Incidental Mutation 'R1885:Brip1'
ID 209470
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 039906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1885 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 85948964-86092019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86029641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 631 (G631V)
Ref Sequence ENSEMBL: ENSMUSP00000043108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044423]
AlphaFold Q5SXJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000044423
AA Change: G631V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: G631V

DomainStartEndE-ValueType
DEXDc 17 520 1.4e-3 SMART
HELICc 701 854 8.2e-41 SMART
Coding Region Coverage
  • 1x: 97.0%
  • 3x: 96.1%
  • 10x: 92.7%
  • 20x: 85.1%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
Aarsd1 T C 11: 101,302,227 (GRCm39) T278A probably benign Het
Acox2 C T 14: 8,248,102 (GRCm38) M393I probably benign Het
Adcy10 A G 1: 165,398,377 (GRCm39) I1491M probably benign Het
Adcy3 T A 12: 4,184,951 (GRCm39) V209E probably damaging Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Ap2b1 T A 11: 83,281,561 (GRCm39) N822K probably damaging Het
Apobec3 A T 15: 79,781,906 (GRCm39) H82L probably damaging Het
Atg9b A T 5: 24,593,252 (GRCm39) W384R probably damaging Het
Atp8a1 A G 5: 67,904,661 (GRCm39) V506A possibly damaging Het
Atxn1 G T 13: 45,721,280 (GRCm39) A205D probably benign Het
B4galnt3 T C 6: 120,200,601 (GRCm39) E223G probably damaging Het
Cacna1i A G 15: 80,243,145 (GRCm39) E434G probably damaging Het
Caprin2 A T 6: 148,779,383 (GRCm39) probably null Het
Cblif G A 19: 11,729,688 (GRCm39) A216T probably benign Het
Ccdc80 A C 16: 44,917,083 (GRCm39) D613A probably benign Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cebpz A T 17: 79,239,545 (GRCm39) D625E probably benign Het
Coq6 C A 12: 84,419,238 (GRCm39) N388K probably damaging Het
Cracd A G 5: 77,004,589 (GRCm39) T317A unknown Het
D430041D05Rik T C 2: 104,060,800 (GRCm39) M1365V probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dap3 A G 3: 88,838,281 (GRCm39) L86P probably damaging Het
Dpysl4 T G 7: 138,676,723 (GRCm39) V391G probably damaging Het
Dyrk4 G T 6: 126,854,144 (GRCm39) Q550K probably benign Het
Epas1 A G 17: 87,112,723 (GRCm39) D107G probably damaging Het
Esrp2 A G 8: 106,858,453 (GRCm39) V636A possibly damaging Het
Etl4 T A 2: 20,748,795 (GRCm39) Y176N probably damaging Het
Etnppl T C 3: 130,423,111 (GRCm39) V264A probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fer T A 17: 64,445,909 (GRCm39) V790D probably damaging Het
Gdpd5 G A 7: 99,109,204 (GRCm39) V575I probably benign Het
Gfus G T 15: 75,798,838 (GRCm39) T123N possibly damaging Het
Gipc3 T C 10: 81,177,181 (GRCm39) I130V probably benign Het
Iqsec3 G A 6: 121,405,326 (GRCm39) probably benign Het
Kdm5d G T Y: 940,781 (GRCm39) probably null Het
Kl A G 5: 150,876,959 (GRCm39) R260G possibly damaging Het
Kras T C 6: 145,177,843 (GRCm39) E143G probably damaging Het
Ksr1 C A 11: 78,911,204 (GRCm39) V11F probably null Het
Ksr1 T C 11: 78,927,347 (GRCm39) T329A probably damaging Het
Marchf6 A G 15: 31,502,952 (GRCm39) V83A probably benign Het
Mettl2 T C 11: 105,022,446 (GRCm39) I212T possibly damaging Het
Mgat3 A G 15: 80,095,820 (GRCm39) I216V probably benign Het
Mkrn3 G A 7: 62,068,486 (GRCm39) A435V probably benign Het
Mlh1 C A 9: 111,087,624 (GRCm39) S24I probably benign Het
Mmel1 G A 4: 154,975,333 (GRCm39) R424Q possibly damaging Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Myh3 A G 11: 66,977,453 (GRCm39) K368E probably benign Het
Myo16 T A 8: 10,372,656 (GRCm39) N118K probably damaging Het
Myo5c A G 9: 75,157,043 (GRCm39) S160G probably damaging Het
Nat1 A T 8: 67,943,653 (GRCm39) I13F probably damaging Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nwd1 T C 8: 73,431,622 (GRCm39) S1207P probably benign Het
Or2y17 T C 11: 49,231,662 (GRCm39) L101P probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or5w22 T C 2: 87,363,168 (GRCm39) S264P probably damaging Het
Paqr8 A T 1: 21,005,704 (GRCm39) H286L probably damaging Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pes1 A G 11: 3,919,482 (GRCm39) K52E probably damaging Het
Ppp1r13l T C 7: 19,111,496 (GRCm39) S774P probably damaging Het
Robo2 T C 16: 73,713,033 (GRCm39) D1283G probably benign Het
Rp1l1 T C 14: 64,265,839 (GRCm39) V475A probably benign Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Skic3 A T 13: 76,261,166 (GRCm39) R112S probably benign Het
Skic3 A G 13: 76,278,354 (GRCm39) Q556R probably benign Het
Slc2a4 C T 11: 69,835,833 (GRCm39) V339I probably benign Het
Slc39a6 G A 18: 24,734,539 (GRCm39) probably null Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Snx33 T C 9: 56,833,121 (GRCm39) H316R probably benign Het
Spata31d1a T G 13: 59,849,821 (GRCm39) D769A probably damaging Het
Stmn2 A T 3: 8,606,964 (GRCm39) E28V probably damaging Het
Syt9 A G 7: 107,035,736 (GRCm39) D251G probably damaging Het
Tjap1 T C 17: 46,573,347 (GRCm39) T37A probably damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Tprg1 A G 16: 25,231,641 (GRCm39) T206A probably benign Het
Ubqlnl A T 7: 103,799,272 (GRCm39) M75K possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r12 C T 5: 109,239,942 (GRCm39) G207E probably damaging Het
Xrn2 T G 2: 146,891,281 (GRCm39) L697* probably null Het
Zfp764 A G 7: 127,004,211 (GRCm39) F307L probably benign Het
Zfp804b T C 5: 6,820,376 (GRCm39) R860G probably damaging Het
Zranb2 A T 3: 157,248,793 (GRCm39) probably null 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
R0661:Brip1 UTSW 11 86,001,189 (GRCm39) missense possibly damaging 0.86
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
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 PCR Primer
(F):5'- ACCCTGTGAGTCTGTTAAGCAG -3'
(R):5'- TGCAACTTGTCTTGACTAGGACC -3'

Sequencing Primer
(F):5'- TGAGTCTGTTAAGCAGCTGAC -3'
(R):5'- TTGACTAGGACCAGAAATTAAATGGC -3'
Posted On 2014-06-30