Incidental Mutation 'IGL02212:Brip1'
ID285532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brip1
Ensembl Gene ENSMUSG00000034329
Gene NameBRCA1 interacting protein C-terminal helicase 1
Synonyms8030460J03Rik, 3110009N10Rik, BACH1
Accession Numbers

Ncbi RefSeq: NM_178309.2; MGI:2442836

Is this an essential gene? Possibly essential (E-score: 0.737) question?
Stock #IGL02212
Quality Score
Status
Chromosome11
Chromosomal Location86058138-86201193 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86139015 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 601 (V601E)
Ref Sequence ENSEMBL: ENSMUSP00000043108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044423]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044423
AA Change: V601E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: V601E

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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,248,889 D1079V probably damaging Het
Adam18 T C 8: 24,637,179 H467R probably benign Het
Ambra1 T G 2: 91,917,361 D1056E probably damaging Het
Aoah A C 13: 21,002,901 N456T probably benign Het
Batf2 T A 19: 6,171,961 F267Y probably damaging Het
Bbs7 C T 3: 36,594,409 V397I probably benign Het
Bbs9 T A 9: 22,812,512 D824E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Bub1 A G 2: 127,805,351 F773L probably damaging Het
Cadps A T 14: 12,522,345 D606E possibly damaging Het
Cenps T G 4: 149,128,846 D54A probably damaging Het
Cep170 T A 1: 176,735,936 N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,749 V1340A possibly damaging Het
D630003M21Rik A T 2: 158,210,171 S667T probably benign Het
Dgkb A G 12: 38,139,414 Y272C probably damaging Het
Dlx3 A G 11: 95,120,641 D107G probably benign Het
Drd3 A T 16: 43,762,312 N56I probably benign Het
Elavl4 T A 4: 110,206,412 I331F probably damaging Het
Fam167a T G 14: 63,462,629 S213A probably damaging Het
Fasn A T 11: 120,807,903 I2489N probably damaging Het
Fbxo43 T C 15: 36,151,811 K587E probably damaging Het
Fscn2 A G 11: 120,362,055 D116G probably damaging Het
Galm T C 17: 80,150,117 V194A probably benign Het
Gm14851 C T 8: 21,095,260 probably benign Het
Gpr180 T A 14: 118,160,176 F361I probably damaging Het
Gpx2 A T 12: 76,792,908 C105* probably null Het
Gsdmc2 A T 15: 63,828,062 probably benign Het
Hes2 T G 4: 152,160,525 S150R probably damaging Het
Ighv1-56 C T 12: 115,242,797 probably benign Het
Inhbb A T 1: 119,417,983 V192D probably benign Het
Itgal A T 7: 127,300,980 M137L probably benign Het
Jak2 A G 19: 29,287,982 N470D probably benign Het
Jph1 T C 1: 17,091,757 E227G probably damaging Het
Kcnj6 A T 16: 94,832,487 I237N probably damaging Het
Kctd8 G T 5: 69,340,688 P205Q probably benign Het
Klhdc1 A T 12: 69,250,766 N37I probably damaging Het
Lrp2 T A 2: 69,451,264 H3921L probably benign Het
Lrp8os2 T C 4: 107,807,048 probably benign Het
Man2a2 A C 7: 80,362,308 D700E probably benign Het
Mast1 A T 8: 84,921,397 L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 D299G probably damaging Het
Mptx2 T A 1: 173,274,681 D147V possibly damaging Het
Mrpl9 T A 3: 94,443,817 probably null Het
Mup21 T G 4: 62,148,592 E137A probably damaging Het
Mutyh T A 4: 116,815,606 V52D probably damaging Het
Nalcn T A 14: 123,515,330 S340C probably damaging Het
Neb A G 2: 52,308,311 Y474H probably damaging Het
Nol8 A G 13: 49,662,150 E560G possibly damaging Het
Ntn4 A G 10: 93,644,849 D145G possibly damaging Het
Nup93 G A 8: 94,311,662 probably null Het
Olfr133 C A 17: 38,148,855 T89K probably benign Het
Olfr1384 A T 11: 49,513,910 I91F probably damaging Het
Olfr346 A G 2: 36,688,182 Y60C probably damaging Het
Olfr691 C T 7: 105,337,143 C191Y probably damaging Het
Pcdhb8 T A 18: 37,356,412 V40E possibly damaging Het
Peg3 C T 7: 6,711,416 R269H probably benign Het
Piwil1 T A 5: 128,750,270 F648I possibly damaging Het
Psd4 A T 2: 24,405,314 K827* probably null Het
Retsat T A 6: 72,601,710 L135* probably null Het
Rtp3 A G 9: 110,987,321 probably benign Het
Samd14 A G 11: 95,023,350 Y305C probably damaging Het
Satb1 T A 17: 51,775,291 Q445L possibly damaging Het
Shbg A G 11: 69,617,209 L110P probably damaging Het
Slc17a6 T A 7: 51,667,470 I413N possibly damaging Het
Slu7 A T 11: 43,440,642 Q201L probably benign Het
Spg11 T C 2: 122,108,157 T439A probably benign Het
Sstr5 A T 17: 25,491,673 L194Q possibly damaging Het
Tjp2 A T 19: 24,138,786 L13Q probably damaging Het
Tnk2 G A 16: 32,680,142 V758I probably damaging Het
Ttll8 C A 15: 88,917,247 V413L probably benign Het
Wiz T C 17: 32,368,135 D67G probably damaging Het
Other mutations in Brip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Brip1 APN 11 86148401 missense possibly damaging 0.53
IGL01098:Brip1 APN 11 86108862 missense possibly damaging 0.71
IGL01503:Brip1 APN 11 86061877 missense probably benign 0.33
IGL01602:Brip1 APN 11 86062004 missense possibly damaging 0.53
IGL01605:Brip1 APN 11 86062004 missense possibly damaging 0.53
IGL01940:Brip1 APN 11 86064966 missense probably benign 0.00
IGL02019:Brip1 APN 11 86197949 missense possibly damaging 0.73
IGL02456:Brip1 APN 11 86065099 missense possibly damaging 0.71
IGL02727:Brip1 APN 11 86152736 missense probably benign 0.02
IGL02983:Brip1 APN 11 86139124 missense probably benign 0.03
IGL03022:Brip1 APN 11 86077950 missense probably damaging 0.98
IGL03116:Brip1 APN 11 86064909 nonsense probably null
IGL03143:Brip1 APN 11 86061827 missense possibly damaging 0.53
P0018:Brip1 UTSW 11 86108868 missense possibly damaging 0.51
R0011:Brip1 UTSW 11 86186998 missense possibly damaging 0.72
R0011:Brip1 UTSW 11 86186998 missense possibly damaging 0.72
R0446:Brip1 UTSW 11 86157601 missense probably damaging 0.98
R0498:Brip1 UTSW 11 86197919 missense possibly damaging 0.96
R0599:Brip1 UTSW 11 86152737 missense probably benign
R0653:Brip1 UTSW 11 86152658 missense possibly damaging 0.85
R0661:Brip1 UTSW 11 86110363 missense possibly damaging 0.86
R0671:Brip1 UTSW 11 86152667 missense possibly damaging 0.93
R0718:Brip1 UTSW 11 86143305 missense possibly damaging 0.96
R0750:Brip1 UTSW 11 86061499 missense possibly damaging 0.53
R0834:Brip1 UTSW 11 86192827 missense probably benign
R1128:Brip1 UTSW 11 86064937 missense possibly damaging 0.86
R1726:Brip1 UTSW 11 86064914 missense probably benign 0.17
R1813:Brip1 UTSW 11 86187080 missense possibly damaging 0.53
R1885:Brip1 UTSW 11 86138815 missense probably damaging 1.00
R1886:Brip1 UTSW 11 86138815 missense probably damaging 1.00
R2093:Brip1 UTSW 11 86139145 missense possibly damaging 0.53
R2206:Brip1 UTSW 11 86061877 missense probably benign 0.33
R2207:Brip1 UTSW 11 86061877 missense probably benign 0.33
R3404:Brip1 UTSW 11 86143263 missense possibly damaging 0.96
R3421:Brip1 UTSW 11 86152669 nonsense probably null
R3876:Brip1 UTSW 11 86152790 missense probably damaging 0.98
R4018:Brip1 UTSW 11 86138851 missense possibly damaging 0.86
R4092:Brip1 UTSW 11 86148521 missense possibly damaging 0.92
R4384:Brip1 UTSW 11 86148429 missense possibly damaging 0.70
R4394:Brip1 UTSW 11 86074298 missense possibly damaging 0.85
R4518:Brip1 UTSW 11 86077878 missense possibly damaging 0.92
R4522:Brip1 UTSW 11 86189801 missense possibly damaging 0.49
R4840:Brip1 UTSW 11 86146183 missense possibly damaging 0.86
R5025:Brip1 UTSW 11 86064980 missense probably benign 0.04
R5176:Brip1 UTSW 11 86077884 missense probably damaging 0.98
R5213:Brip1 UTSW 11 86143321 missense possibly damaging 0.73
R5470:Brip1 UTSW 11 86148542 missense possibly damaging 0.71
R5525:Brip1 UTSW 11 86110447 missense possibly damaging 0.85
R6057:Brip1 UTSW 11 86065039 missense possibly damaging 0.73
R6819:Brip1 UTSW 11 86110441 missense possibly damaging 0.51
R6908:Brip1 UTSW 11 86077884 missense probably damaging 0.98
R6920:Brip1 UTSW 11 86148536 nonsense probably null
R7053:Brip1 UTSW 11 86192965 missense possibly damaging 0.53
R7235:Brip1 UTSW 11 86138875 missense possibly damaging 0.53
R7253:Brip1 UTSW 11 86143278 missense possibly damaging 0.96
X0060:Brip1 UTSW 11 86152619 missense possibly damaging 0.71
X0062:Brip1 UTSW 11 86143356 missense possibly damaging 0.53
Posted On2015-04-16