Nckap1l^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Nckap1l^m1Btlr
• Name: NCK associated protein 1 like; mutation 1, Bruce Beutler
• MGI ID: MGI:6283866
• Synonyms: hem-haw
• Gene: Nckap1l Location: Chr15:103362221-103407237 bp, + strand Genetic Position: Chr15, 58.96 cM
• Alliance: Nckap1l^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: C to A transversion at base pair 103,471,232 (v38) on chromosome 15, or base pair 17,450 in the GenBank genomic region NC_000081 encoding Nckap1l. The mutation corresponds to residue 1,000 in the mRNA sequence NM_153505.4 (c.1000C>A) within exon 10 of 31 total exons. The mutation results in substitution of tyrosine 315 for a premature stop codon (p.Y315*) in the HEM1 protein. (J:272079)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Nckap1l Mutation: 53 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3502

References

• Original: J:272079 Zhong X, et al., Mutagenetix entry for hem-haw. MGI Direct Data Submission. 2019
• All: 1 reference(s)