Incidental Mutation 'IGL02456:Brip1'
ID 294184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brip1
Ensembl Gene ENSMUSG00000034329
Gene Name BRCA1 interacting protein C-terminal helicase 1
Synonyms 8030460J03Rik, BACH1, 3110009N10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02456
Quality Score
Status
Chromosome 11
Chromosomal Location 85948964-86092019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85955925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 863 (L863I)
Ref Sequence ENSEMBL: ENSMUSP00000043108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044423]
AlphaFold Q5SXJ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000044423
AA Change: L863I

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: L863I

DomainStartEndE-ValueType
DEXDc 17 520 1.4e-3 SMART
HELICc 701 854 8.2e-41 SMART
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,584 (GRCm39) Y174* probably null Het
Apc C A 18: 34,446,935 (GRCm39) S1243* probably null Het
Atp8b5 A G 4: 43,365,578 (GRCm39) T731A probably benign Het
Bcl2a1c T A 9: 114,159,458 (GRCm39) F79I probably damaging Het
Cbx4 T A 11: 118,972,938 (GRCm39) K146* probably null Het
Ces1a C T 8: 93,766,126 (GRCm39) V163I possibly damaging Het
Ces5a C T 8: 94,255,272 (GRCm39) probably benign Het
Cfhr1 A C 1: 139,484,131 (GRCm39) N128K possibly damaging Het
Clcn3 T C 8: 61,394,391 (GRCm39) D46G probably damaging Het
Cntnap1 T G 11: 101,068,955 (GRCm39) I166S probably benign Het
Cntnap3 A T 13: 64,946,872 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,714,739 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,430 (GRCm39) V626E probably damaging Het
Dele1 T A 18: 38,394,177 (GRCm39) L458Q probably damaging Het
Gcm2 T C 13: 41,256,477 (GRCm39) Y424C probably benign Het
Gm9964 A G 11: 79,187,196 (GRCm39) F84L probably damaging Het
Grn T A 11: 102,326,930 (GRCm39) D509E probably benign Het
Iho1 G T 9: 108,283,820 (GRCm39) T208K probably benign Het
Kdm5c G A X: 151,029,314 (GRCm39) D343N probably damaging Het
Ly75 C T 2: 60,124,125 (GRCm39) M1717I probably benign Het
Map1a C A 2: 121,129,134 (GRCm39) P133T probably damaging Het
Mpp2 C A 11: 101,950,199 (GRCm39) A552S possibly damaging Het
Mtr T C 13: 12,213,980 (GRCm39) I897M probably damaging Het
Npas3 A T 12: 54,095,550 (GRCm39) I337F probably damaging Het
Nup85 T C 11: 115,472,691 (GRCm39) probably benign Het
Or10a49 A G 7: 108,468,257 (GRCm39) Y35H probably benign Het
Or10al2 T A 17: 37,983,340 (GRCm39) M142K possibly damaging Het
Or2t46 T A 11: 58,472,024 (GRCm39) L118H possibly damaging Het
Or51l4 T A 7: 103,404,700 (GRCm39) I31F possibly damaging Het
Or56a5 T C 7: 104,792,966 (GRCm39) N178S probably damaging Het
Pdia4 A T 6: 47,780,429 (GRCm39) D301E probably benign Het
Phf2 C A 13: 48,982,322 (GRCm39) G134C unknown Het
Polr2h T A 16: 20,539,352 (GRCm39) L76H probably damaging Het
Rbm47 G A 5: 66,184,364 (GRCm39) R80C probably damaging Het
Sfmbt1 T C 14: 30,507,837 (GRCm39) S286P probably damaging Het
Slc5a12 T C 2: 110,447,179 (GRCm39) probably benign Het
Tacc2 T C 7: 130,227,991 (GRCm39) S1559P probably benign Het
Tbc1d16 T G 11: 119,101,372 (GRCm39) H46P probably damaging Het
Tbck A G 3: 132,440,475 (GRCm39) probably benign Het
Tmtc4 A T 14: 123,163,374 (GRCm39) probably null Het
Ttc13 T C 8: 125,417,100 (GRCm39) probably null Het
Ttc17 T C 2: 94,193,130 (GRCm39) probably benign Het
Vmn1r121 T A 7: 20,832,438 (GRCm39) M1L possibly damaging Het
Vps13c T C 9: 67,860,258 (GRCm39) S2825P probably damaging Het
Zan A C 5: 137,445,106 (GRCm39) S1718A unknown Het
Zfp39 G T 11: 58,793,626 (GRCm39) Y37* probably null Het
Zfp407 T C 18: 84,576,766 (GRCm39) N1449S probably damaging Het
Zhx2 C A 15: 57,687,035 (GRCm39) D801E 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
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
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
Posted On 2015-04-16