Incidental Mutation 'R0661:Brip1'
ID 61848
Institutional Source Beutler Lab
Gene Symbol Brip1
Ensembl Gene ENSMUSG00000034329
Gene Name BRCA1 interacting protein C-terminal helicase 1
Synonyms 8030460J03Rik, BACH1, 3110009N10Rik
MMRRC Submission 038846-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0661 (G1)
Quality Score 113
Status Not validated
Chromosome 11
Chromosomal Location 85948964-86092019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86001189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 749 (I749N)
Ref Sequence ENSEMBL: ENSMUSP00000043108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044423]
AlphaFold Q5SXJ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000044423
AA Change: I749N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: I749N

DomainStartEndE-ValueType
DEXDc 17 520 1.4e-3 SMART
HELICc 701 854 8.2e-41 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype 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

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b T A 3: 20,370,163 (GRCm39) T148S possibly damaging Het
Anks3 A G 16: 4,766,198 (GRCm39) F124L probably damaging Het
Ar T A X: 97,194,171 (GRCm39) Y262N probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
C1ra T A 6: 124,499,336 (GRCm39) H507Q probably benign Het
Cdk9 G A 2: 32,599,832 (GRCm39) T135I probably damaging Het
Col1a1 A G 11: 94,840,215 (GRCm39) T1088A unknown Het
Cpne2 T C 8: 95,282,667 (GRCm39) I283T possibly damaging Het
Dcaf17 T C 2: 70,918,779 (GRCm39) L451P probably damaging Het
Dhx57 C T 17: 80,576,293 (GRCm39) C599Y probably damaging Het
Drd1 T A 13: 54,207,057 (GRCm39) N379Y possibly damaging Het
Fsip2 A G 2: 82,816,513 (GRCm39) D4082G possibly damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Heyl G T 4: 123,139,824 (GRCm39) V128F probably damaging Het
Hoxd12 A G 2: 74,506,236 (GRCm39) E216G probably damaging Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Invs G A 4: 48,421,861 (GRCm39) R831H probably benign Het
Lrrk2 T C 15: 91,671,219 (GRCm39) V2000A probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Or11g27 A G 14: 50,771,552 (GRCm39) T228A probably benign Het
Or5an9 T C 19: 12,187,068 (GRCm39) L46P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh18 A C 3: 49,707,767 (GRCm39) S902R possibly damaging Het
Prdm15 A T 16: 97,630,882 (GRCm39) V190E probably benign Het
Ranbp2 T G 10: 58,314,555 (GRCm39) S1758R probably benign Het
Rimbp2 A G 5: 128,863,774 (GRCm39) V738A probably benign Het
Rtl5 T C X: 101,114,056 (GRCm39) H138R possibly damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slf1 A G 13: 77,231,715 (GRCm39) W555R probably benign Het
Spx A G 6: 142,359,565 (GRCm39) S5G possibly damaging Het
Tcp1 T C 17: 13,142,200 (GRCm39) V398A probably benign Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tsbp1 A T 17: 34,678,887 (GRCm39) I217F possibly damaging Het
Ufsp2 T A 8: 46,432,270 (GRCm39) M1K probably null Het
Usf1 G A 1: 171,245,067 (GRCm39) R196Q probably damaging Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Yme1l1 T A 2: 23,081,054 (GRCm39) M442K probably damaging Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Other mutations in Brip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Brip1 APN 11 86,039,227 (GRCm39) missense possibly damaging 0.53
IGL01098:Brip1 APN 11 85,999,688 (GRCm39) missense possibly damaging 0.71
IGL01503:Brip1 APN 11 85,952,703 (GRCm39) missense probably benign 0.33
IGL01602:Brip1 APN 11 85,952,830 (GRCm39) missense possibly damaging 0.53
IGL01605:Brip1 APN 11 85,952,830 (GRCm39) missense possibly damaging 0.53
IGL01940:Brip1 APN 11 85,955,792 (GRCm39) missense probably benign 0.00
IGL02019:Brip1 APN 11 86,088,775 (GRCm39) missense possibly damaging 0.73
IGL02212:Brip1 APN 11 86,029,841 (GRCm39) missense possibly damaging 0.86
IGL02456:Brip1 APN 11 85,955,925 (GRCm39) missense possibly damaging 0.71
IGL02727:Brip1 APN 11 86,043,562 (GRCm39) missense probably benign 0.02
IGL02983:Brip1 APN 11 86,029,950 (GRCm39) missense probably benign 0.03
IGL03022:Brip1 APN 11 85,968,776 (GRCm39) missense probably damaging 0.98
IGL03116:Brip1 APN 11 85,955,735 (GRCm39) nonsense probably null
IGL03143:Brip1 APN 11 85,952,653 (GRCm39) missense possibly damaging 0.53
blip UTSW 11 85,965,124 (GRCm39) missense possibly damaging 0.85
Microwave UTSW 11 86,043,532 (GRCm39) missense possibly damaging 0.93
radar UTSW 11 86,043,495 (GRCm39) nonsense probably null
P0018:Brip1 UTSW 11 85,999,694 (GRCm39) missense possibly damaging 0.51
R0011:Brip1 UTSW 11 86,077,824 (GRCm39) missense possibly damaging 0.72
R0011:Brip1 UTSW 11 86,077,824 (GRCm39) missense possibly damaging 0.72
R0446:Brip1 UTSW 11 86,048,427 (GRCm39) missense probably damaging 0.98
R0498:Brip1 UTSW 11 86,088,745 (GRCm39) missense possibly damaging 0.96
R0599:Brip1 UTSW 11 86,043,563 (GRCm39) missense probably benign
R0653:Brip1 UTSW 11 86,043,484 (GRCm39) missense possibly damaging 0.85
R0671:Brip1 UTSW 11 86,043,493 (GRCm39) missense possibly damaging 0.93
R0718:Brip1 UTSW 11 86,034,131 (GRCm39) missense possibly damaging 0.96
R0750:Brip1 UTSW 11 85,952,325 (GRCm39) missense possibly damaging 0.53
R0834:Brip1 UTSW 11 86,083,653 (GRCm39) missense probably benign
R1128:Brip1 UTSW 11 85,955,763 (GRCm39) missense possibly damaging 0.86
R1726:Brip1 UTSW 11 85,955,740 (GRCm39) missense probably benign 0.17
R1813:Brip1 UTSW 11 86,077,906 (GRCm39) missense possibly damaging 0.53
R1885:Brip1 UTSW 11 86,029,641 (GRCm39) missense probably damaging 1.00
R1886:Brip1 UTSW 11 86,029,641 (GRCm39) missense probably damaging 1.00
R2093:Brip1 UTSW 11 86,029,971 (GRCm39) missense possibly damaging 0.53
R2206:Brip1 UTSW 11 85,952,703 (GRCm39) missense probably benign 0.33
R2207:Brip1 UTSW 11 85,952,703 (GRCm39) missense probably benign 0.33
R3404:Brip1 UTSW 11 86,034,089 (GRCm39) missense possibly damaging 0.96
R3421:Brip1 UTSW 11 86,043,495 (GRCm39) nonsense probably null
R3876:Brip1 UTSW 11 86,043,616 (GRCm39) missense probably damaging 0.98
R4018:Brip1 UTSW 11 86,029,677 (GRCm39) missense possibly damaging 0.86
R4092:Brip1 UTSW 11 86,039,347 (GRCm39) missense possibly damaging 0.92
R4384:Brip1 UTSW 11 86,039,255 (GRCm39) missense possibly damaging 0.70
R4394:Brip1 UTSW 11 85,965,124 (GRCm39) missense possibly damaging 0.85
R4518:Brip1 UTSW 11 85,968,704 (GRCm39) missense possibly damaging 0.92
R4522:Brip1 UTSW 11 86,080,627 (GRCm39) missense possibly damaging 0.49
R4840:Brip1 UTSW 11 86,037,009 (GRCm39) missense possibly damaging 0.86
R5025:Brip1 UTSW 11 85,955,806 (GRCm39) missense probably benign 0.04
R5176:Brip1 UTSW 11 85,968,710 (GRCm39) missense probably damaging 0.98
R5213:Brip1 UTSW 11 86,034,147 (GRCm39) missense possibly damaging 0.73
R5470:Brip1 UTSW 11 86,039,368 (GRCm39) missense possibly damaging 0.71
R5525:Brip1 UTSW 11 86,001,273 (GRCm39) missense possibly damaging 0.85
R6057:Brip1 UTSW 11 85,955,865 (GRCm39) missense possibly damaging 0.73
R6819:Brip1 UTSW 11 86,001,267 (GRCm39) missense possibly damaging 0.51
R6908:Brip1 UTSW 11 85,968,710 (GRCm39) missense probably damaging 0.98
R6920:Brip1 UTSW 11 86,039,362 (GRCm39) nonsense probably null
R7053:Brip1 UTSW 11 86,083,791 (GRCm39) missense possibly damaging 0.53
R7235:Brip1 UTSW 11 86,029,701 (GRCm39) missense possibly damaging 0.53
R7253:Brip1 UTSW 11 86,034,104 (GRCm39) missense possibly damaging 0.96
R7347:Brip1 UTSW 11 86,029,929 (GRCm39) missense probably benign 0.34
R7476:Brip1 UTSW 11 86,048,634 (GRCm39) missense probably benign 0.33
R7580:Brip1 UTSW 11 86,048,427 (GRCm39) missense probably damaging 0.98
R7639:Brip1 UTSW 11 86,043,648 (GRCm39) splice site probably null
R7771:Brip1 UTSW 11 85,952,850 (GRCm39) missense probably benign 0.02
R8125:Brip1 UTSW 11 86,077,817 (GRCm39) missense possibly damaging 0.73
R8236:Brip1 UTSW 11 86,029,938 (GRCm39) missense probably damaging 0.98
R8509:Brip1 UTSW 11 86,088,774 (GRCm39) nonsense probably null
R8815:Brip1 UTSW 11 86,080,598 (GRCm39) missense probably benign 0.17
R8877:Brip1 UTSW 11 86,043,532 (GRCm39) missense possibly damaging 0.93
R8938:Brip1 UTSW 11 86,039,227 (GRCm39) missense possibly damaging 0.53
R9038:Brip1 UTSW 11 86,080,599 (GRCm39) missense probably benign 0.01
R9104:Brip1 UTSW 11 86,077,897 (GRCm39) missense possibly damaging 0.86
R9466:Brip1 UTSW 11 86,048,584 (GRCm39) missense possibly damaging 0.71
R9645:Brip1 UTSW 11 85,952,512 (GRCm39) missense probably benign 0.18
R9703:Brip1 UTSW 11 85,952,830 (GRCm39) missense possibly damaging 0.53
R9774:Brip1 UTSW 11 86,077,838 (GRCm39) missense possibly damaging 0.73
X0060:Brip1 UTSW 11 86,043,445 (GRCm39) missense possibly damaging 0.71
X0062:Brip1 UTSW 11 86,034,182 (GRCm39) missense possibly damaging 0.53
Predicted Primers
Posted On 2013-07-30