Incidental Mutation 'R4518:Brip1'
ID 334084
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 041762-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4518 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 85948964-86092019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85968704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 827 (A827V)
Ref Sequence ENSEMBL: ENSMUSP00000043108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044423]
AlphaFold Q5SXJ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000044423
AA Change: A827V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: A827V

DomainStartEndE-ValueType
DEXDc 17 520 1.4e-3 SMART
HELICc 701 854 8.2e-41 SMART
Meta Mutation Damage Score 0.5108 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (60/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082J24Rik T A 5: 30,311,006 (GRCm39) probably null Het
Abr A G 11: 76,363,344 (GRCm39) S167P possibly damaging Het
Adamtsl2 T C 2: 26,985,559 (GRCm39) L481P probably benign Het
Atp8b3 C T 10: 80,359,681 (GRCm39) M984I probably benign Het
Carns1 T G 19: 4,220,069 (GRCm39) T389P probably benign Het
Ccdc88a T C 11: 29,432,651 (GRCm39) I1219T probably benign Het
Cckar T C 5: 53,857,264 (GRCm39) N311S probably damaging Het
Cenpc1 A G 5: 86,195,446 (GRCm39) S108P possibly damaging Het
Chpf G T 1: 75,451,689 (GRCm39) S588R probably damaging Het
Clca3a2 T A 3: 144,514,466 (GRCm39) T414S probably damaging Het
Cntrl A G 2: 35,038,986 (GRCm39) E1092G probably damaging Het
Crb2 C A 2: 37,680,401 (GRCm39) T443K probably damaging Het
Crppa G A 12: 36,523,179 (GRCm39) V203I possibly damaging Het
Cwf19l1 A G 19: 44,121,473 (GRCm39) V25A probably damaging Het
Cyb561d1 T C 3: 108,106,887 (GRCm39) I111V possibly damaging Het
Dbn1 A T 13: 55,624,042 (GRCm39) I350N possibly damaging Het
Dnajb4 T C 3: 151,890,813 (GRCm39) I329V probably benign Het
Dnmt1 G T 9: 20,823,274 (GRCm39) D1055E probably benign Het
Fam168a C T 7: 100,483,247 (GRCm39) A176V probably damaging Het
Farp2 A G 1: 93,548,363 (GRCm39) E1016G probably benign Het
Fibcd1 A T 2: 31,707,207 (GRCm39) V350E probably damaging Het
Galnt3 C A 2: 65,923,954 (GRCm39) R438L probably damaging Het
Golga4 T A 9: 118,388,076 (GRCm39) S1733T probably benign Het
Golgb1 G A 16: 36,749,625 (GRCm39) E3076K probably damaging Het
Grm7 A G 6: 110,891,507 (GRCm39) probably null Het
Hcn2 T C 10: 79,560,536 (GRCm39) V289A probably benign Het
Hipk1 G T 3: 103,657,688 (GRCm39) H799N probably damaging Het
Klf14 A G 6: 30,934,867 (GRCm39) S256P possibly damaging Het
Muc6 T A 7: 141,230,489 (GRCm39) T1214S probably benign Het
Nlrp2 T A 7: 5,328,055 (GRCm39) D666V possibly damaging Het
Ntng1 A G 3: 109,842,329 (GRCm39) I148T probably damaging Het
Or4k35 T C 2: 111,100,263 (GRCm39) M150V probably benign Het
Or7d9 A G 9: 20,197,546 (GRCm39) I184V probably benign Het
Or7g27 T A 9: 19,250,556 (GRCm39) S267T possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pacs2 A G 12: 113,024,289 (GRCm39) D360G probably benign Het
Parp8 C A 13: 117,032,209 (GRCm39) L321F possibly damaging Het
Pdss2 T A 10: 43,248,146 (GRCm39) S217T probably damaging Het
Plekhn1 T C 4: 156,309,988 (GRCm39) S109G probably damaging Het
Prlr C A 15: 10,329,085 (GRCm39) T520K possibly damaging Het
Prokr2 T A 2: 132,216,012 (GRCm39) probably null Het
Rab3gap2 G A 1: 184,999,265 (GRCm39) V991I probably benign Het
Reln T C 5: 22,106,741 (GRCm39) I3210V probably benign Het
Rims2 T C 15: 39,300,922 (GRCm39) Y218H probably damaging Het
Slc41a1 T C 1: 131,766,863 (GRCm39) V127A probably damaging Het
St8sia6 T A 2: 13,797,562 (GRCm39) probably null Het
Tlr6 A G 5: 65,112,247 (GRCm39) F220S possibly damaging Het
Trmt1l C T 1: 151,324,094 (GRCm39) Q314* probably null Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vnn3 G A 10: 23,743,124 (GRCm39) V445M possibly damaging Het
Ypel1 A T 16: 16,913,905 (GRCm39) F173I possibly damaging Het
Zfhx4 T C 3: 5,477,578 (GRCm39) C3398R probably damaging Het
Zfyve16 T C 13: 92,657,820 (GRCm39) E697G 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
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
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'- GATGTCTCAGTTGGCAAAGTG -3'
(R):5'- GCTGAAACACTCACACGTGC -3'

Sequencing Primer
(F):5'- GTGCTTGCCACAGTTTTCAAC -3'
(R):5'- CGTGCAAAACAAGATACCCTAAATC -3'
Posted On 2015-08-18