Incidental Mutation 'R6920:Brip1'
ID 539594
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 045040-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6920 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 85948964-86092019 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 86039362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 391 (Q391*)
Ref Sequence ENSEMBL: ENSMUSP00000043108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044423]
AlphaFold Q5SXJ3
Predicted Effect probably null
Transcript: ENSMUST00000044423
AA Change: Q391*
SMART Domains Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: Q391*

DomainStartEndE-ValueType
DEXDc 17 520 1.4e-3 SMART
HELICc 701 854 8.2e-41 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,773,811 (GRCm39) Y1000F probably damaging Het
1700018B08Rik A G 8: 122,262,160 (GRCm39) probably null Het
Aadat T C 8: 60,982,467 (GRCm39) F245L probably damaging Het
Adcy10 T G 1: 165,403,227 (GRCm39) L1575W probably damaging Het
Anks4b A T 7: 119,782,231 (GRCm39) T421S probably damaging Het
Anpep A T 7: 79,475,097 (GRCm39) I155N probably damaging Het
Arnt T C 3: 95,397,932 (GRCm39) F572L probably damaging Het
Brpf3 C A 17: 29,042,970 (GRCm39) H1004N probably benign Het
Cand2 T A 6: 115,768,250 (GRCm39) V465D possibly damaging Het
Card10 G T 15: 78,686,609 (GRCm39) Y69* probably null Het
Catsperd A T 17: 56,962,175 (GRCm39) K450* probably null Het
Ccdc137 T C 11: 120,351,009 (GRCm39) L137P probably damaging Het
Cic T C 7: 24,990,107 (GRCm39) S1905P probably damaging Het
Csmd3 C T 15: 47,507,601 (GRCm39) G2971S probably damaging Het
Dmxl2 A G 9: 54,379,496 (GRCm39) Y183H probably damaging Het
Drosha T C 15: 12,834,396 (GRCm39) Y167H unknown Het
E330034G19Rik A G 14: 24,358,310 (GRCm39) K214R unknown Het
Fam180a T G 6: 35,290,765 (GRCm39) I73L possibly damaging Het
Fbxo28 G T 1: 182,168,986 (GRCm39) H51N probably benign Het
Gm12728 T G 4: 105,647,533 (GRCm39) probably null Het
Gm973 T C 1: 59,591,620 (GRCm39) C335R possibly damaging Het
Gpx8 A G 13: 113,179,770 (GRCm39) V177A probably damaging Het
Hdlbp A G 1: 93,340,083 (GRCm39) probably null Het
Htt T G 5: 35,034,444 (GRCm39) Y1972D probably null Het
Igkv6-14 T C 6: 70,412,116 (GRCm39) Y56C possibly damaging Het
Kcnma1 A G 14: 23,576,602 (GRCm39) probably null Het
Klc1 T C 12: 111,754,019 (GRCm39) S105P probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lamc3 A G 2: 31,798,701 (GRCm39) D469G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Mboat4 G A 8: 34,591,865 (GRCm39) R434H probably benign Het
Mttp T C 3: 137,821,043 (GRCm39) K270E possibly damaging Het
Muc5ac G A 7: 141,347,035 (GRCm39) C337Y possibly damaging Het
Nars1 A G 18: 64,634,471 (GRCm39) V484A probably damaging Het
Noxa1 G T 2: 24,981,844 (GRCm39) probably null Het
Or14c45 A G 7: 86,176,522 (GRCm39) T186A probably benign Het
Or7g18 T A 9: 18,786,821 (GRCm39) L63H probably damaging Het
Osbpl7 G A 11: 96,941,584 (GRCm39) G36S probably damaging Het
P4htm C T 9: 108,460,812 (GRCm39) G220D probably benign Het
Pcdhga7 A G 18: 37,848,199 (GRCm39) I69V probably benign Het
Pla2g4e C T 2: 120,015,795 (GRCm39) E250K possibly damaging Het
Plcd4 A G 1: 74,604,994 (GRCm39) probably benign Het
Ppfia3 C A 7: 45,008,231 (GRCm39) G213V possibly damaging Het
Ppp1r1a A G 15: 103,441,513 (GRCm39) S67P probably damaging Het
Prss43 T C 9: 110,657,680 (GRCm39) F193S probably benign Het
Rfx1 A G 8: 84,822,117 (GRCm39) Y872C probably damaging Het
Rhot1 T A 11: 80,132,921 (GRCm39) N218K probably benign Het
Sall1 A G 8: 89,757,021 (GRCm39) F1028L probably damaging Het
Siglec1 G A 2: 130,919,997 (GRCm39) Q845* probably null Het
Slc38a9 C T 13: 112,838,060 (GRCm39) T275I possibly damaging Het
Slc39a4 A T 15: 76,497,470 (GRCm39) S481T probably damaging Het
Ssr1 A T 13: 38,169,998 (GRCm39) N191K probably damaging Het
Tenm4 A T 7: 96,544,757 (GRCm39) S2258C probably damaging Het
Tm7sf3 T G 6: 146,507,645 (GRCm39) R472S possibly damaging Het
Tmprss11a G A 5: 86,576,494 (GRCm39) T119M probably benign Het
Traip C T 9: 107,838,240 (GRCm39) R142* probably null Het
Utrn T C 10: 12,626,214 (GRCm39) N100D probably damaging Het
Vmn1r74 T C 7: 11,581,575 (GRCm39) S292P probably benign Het
Vmn2r71 A T 7: 85,273,108 (GRCm39) I641F probably damaging Het
Vmn2r9 T A 5: 108,996,912 (GRCm39) Y119F possibly damaging Het
Vmn2r98 A G 17: 19,285,510 (GRCm39) N110S probably damaging Het
Vwce A G 19: 10,642,057 (GRCm39) T928A probably benign Het
Zfp608 T A 18: 55,121,337 (GRCm39) K83N probably damaging Het
Zfp808 A G 13: 62,320,982 (GRCm39) H737R probably benign Het
Zswim4 T C 8: 84,940,714 (GRCm39) N795S probably benign 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
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
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'- ATAGCACACATCTCGTAGGGG -3'
(R):5'- CCATTGGTGCCTTGATCCAAAG -3'

Sequencing Primer
(F):5'- ACATCTCGTAGGGGCTCGTG -3'
(R):5'- CACATTTTCATTGAGAGATTGGCTGC -3'
Posted On 2018-11-06