|Institutional Source||Beutler Lab|
|Gene Name||BRCA1 interacting protein C-terminal helicase 1|
|Synonyms||8030460J03Rik, 3110009N10Rik, BACH1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4384 (G1)|
|Chromosomal Location||86058138-86201193 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 86148429 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 426 (D426E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043108 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044423]|
|Predicted Effect||possibly damaging
AA Change: D426E
PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: D426E
|Meta Mutation Damage Score||0.0593|
|Coding Region Coverage||
|Validation Efficiency||97% (56/58)|
FUNCTION: This gene encodes a member of the DEAH subfamily of DEAD box helicases. A similar protein in humans is both a DNA-dependent ATPase and a 5-prime-to-3-prime DNA helicase, and plays a role in the repair of DNA double stranded breaks through interaction with the breast cancer-associated tumor suppressor BRCA1. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Brip1||
(F):5'- ACCGAGTCATCTCTTCAGCATC -3'
(R):5'- GCACAAGCAATATTGGCCTATATTG -3'
(F):5'- ACATGTCTTTAAAGCCGGGC -3'
(R):5'- CTGAAAGGACAAGTTGTCAT -3'