Incidental Mutation 'IGL02929:Brcc3'
ID363997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brcc3
Ensembl Gene ENSMUSG00000031201
Gene NameBRCA1/BRCA2-containing complex, subunit 3
SynonymsC6.1A
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.043) question?
Stock #IGL02929
Quality Score
Status
ChromosomeX
Chromosomal Location75416628-75454001 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75435499 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 117 (V117A)
Ref Sequence ENSEMBL: ENSMUSP00000114057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033544] [ENSMUST00000114074] [ENSMUST00000118428] [ENSMUST00000133781] [ENSMUST00000152228]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033544
AA Change: V117A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033544
Gene: ENSMUSG00000031201
AA Change: V117A

DomainStartEndE-ValueType
JAB_MPN 11 178 3.77e-41 SMART
coiled coil region 258 291 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114074
AA Change: V117A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109708
Gene: ENSMUSG00000031201
AA Change: V117A

DomainStartEndE-ValueType
JAB_MPN 11 178 3.77e-41 SMART
coiled coil region 258 291 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118428
AA Change: V117A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114057
Gene: ENSMUSG00000031201
AA Change: V117A

DomainStartEndE-ValueType
JAB_MPN 11 178 3.77e-41 SMART
coiled coil region 214 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124321
Predicted Effect possibly damaging
Transcript: ENSMUST00000133781
AA Change: V93A

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123031
Gene: ENSMUSG00000031201
AA Change: V93A

DomainStartEndE-ValueType
JAB_MPN 11 154 2.97e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151938
Predicted Effect probably benign
Transcript: ENSMUST00000152228
SMART Domains Protein: ENSMUSP00000127772
Gene: ENSMUSG00000031201

DomainStartEndE-ValueType
Pfam:JAB 3 50 3.1e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,082 M75K possibly damaging Het
A330070K13Rik A G 5: 130,384,411 probably null Het
Abcb5 T C 12: 118,944,939 Y90C probably damaging Het
Accs T C 2: 93,844,221 D112G probably damaging Het
Adam32 C A 8: 24,872,643 V13L possibly damaging Het
Adgrb3 A G 1: 25,553,824 V294A probably benign Het
Aes T A 10: 81,564,838 probably null Het
Agt G T 8: 124,557,090 A430E probably benign Het
Agxt2 T C 15: 10,388,293 probably benign Het
Atp2a1 A T 7: 126,456,944 I235N probably damaging Het
Atp8b1 T C 18: 64,561,662 I516M possibly damaging Het
Atrx T C X: 105,879,906 probably null Het
Casp8ap2 T C 4: 32,624,105 probably benign Het
Ceacam3 T A 7: 17,158,190 V286D probably damaging Het
Cpb1 T C 3: 20,275,466 D32G probably benign Het
Cpsf1 C A 15: 76,602,127 probably null Het
Dock2 A T 11: 34,268,048 V1174E probably damaging Het
Dqx1 A G 6: 83,060,484 probably benign Het
Ercc1 T C 7: 19,355,363 probably null Het
Fn1 A G 1: 71,595,662 probably null Het
Ice1 A G 13: 70,596,203 L2087P probably damaging Het
Ift122 A G 6: 115,902,877 D612G probably damaging Het
Igkv6-25 A G 6: 70,215,945 Y112C probably damaging Het
Kit C A 5: 75,640,769 P572Q probably damaging Het
Kras A G 6: 145,232,089 probably benign Het
Ltv1 T C 10: 13,192,226 K6R possibly damaging Het
Man1a C T 10: 53,925,435 V443I probably benign Het
Mat2b A C 11: 40,684,713 D154E probably benign Het
Mtrf1 A G 14: 79,402,833 K143E probably benign Het
Myh13 A C 11: 67,367,165 I95L probably damaging Het
Myo7b A T 18: 31,994,925 D571E probably benign Het
Nek10 T A 14: 14,821,119 D28E possibly damaging Het
Npm2 T A 14: 70,652,238 probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Plcb2 G A 2: 118,713,234 probably benign Het
Ppp1r3a A G 6: 14,719,811 M368T probably benign Het
Rnf123 G T 9: 108,069,076 T300K probably benign Het
Sbspon A G 1: 15,883,845 probably benign Het
Slc52a2 G A 15: 76,540,576 C338Y probably benign Het
Tdrd6 T A 17: 43,629,713 Q148L possibly damaging Het
Trpc3 T A 3: 36,638,474 K790* probably null Het
Ushbp1 C T 8: 71,394,476 A171T probably damaging Het
Usp32 T C 11: 84,988,372 T1504A probably benign Het
Wdr78 C T 4: 103,059,991 W552* probably null Het
Other mutations in Brcc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Brcc3 APN X 75422783 missense possibly damaging 0.82
IGL02634:Brcc3 APN X 75436098 unclassified probably benign
R0448:Brcc3 UTSW X 75450041 nonsense probably null
X0066:Brcc3 UTSW X 75436175 missense probably benign 0.28
Posted On2015-12-18