Incidental Mutation 'IGL02377:Brca1'
ID291153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Namebreast cancer 1, early onset
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02377
Quality Score
Status
Chromosome11
Chromosomal Location101488764-101551955 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101524323 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 134 (M134T)
Ref Sequence ENSEMBL: ENSMUSP00000139737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000142086] [ENSMUST00000191198]
Predicted Effect probably benign
Transcript: ENSMUST00000017290
AA Change: M995T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: M995T

DomainStartEndE-ValueType
RING 24 64 1.82e-7 SMART
Pfam:BRCT_assoc 342 503 2.6e-69 PFAM
low complexity region 1173 1185 N/A INTRINSIC
Blast:BRCT 1343 1406 2e-16 BLAST
low complexity region 1555 1575 N/A INTRINSIC
BRCT 1587 1669 3.87e-11 SMART
BRCT 1700 1787 3.42e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131460
Predicted Effect probably benign
Transcript: ENSMUST00000142086
SMART Domains Protein: ENSMUSP00000139813
Gene: ENSMUSG00000017146

DomainStartEndE-ValueType
RING 24 64 8.6e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188168
Predicted Effect probably benign
Transcript: ENSMUST00000191198
AA Change: M134T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000139737
Gene: ENSMUSG00000017146
AA Change: M134T

DomainStartEndE-ValueType
Pfam:EIN3 1 146 3.5e-18 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 nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578C19Rik T A X: 18,447,691 I131F possibly damaging Het
4931423N10Rik T C 2: 23,212,655 probably benign Het
Aatk A T 11: 120,046,863 probably benign Het
Abca15 T C 7: 120,365,910 probably benign Het
App T C 16: 85,082,831 Q138R probably benign Het
Asah2 T A 19: 32,009,414 I529F probably benign Het
Atp8b3 A G 10: 80,520,294 S1195P probably benign Het
Cacna1s T C 1: 136,068,994 L111P probably damaging Het
Capns2 A T 8: 92,901,587 N35Y probably benign Het
Ccne1 A G 7: 38,098,990 probably null Het
Csf1r G T 18: 61,124,468 probably benign Het
Dlg3 A T X: 100,773,401 Y326F possibly damaging Het
Dnah8 T C 17: 30,794,796 V3837A probably damaging Het
Dock10 A G 1: 80,584,994 probably null Het
Emg1 A G 6: 124,704,657 V208A probably benign Het
Eml6 T A 11: 29,777,282 D1280V probably damaging Het
Ep400 T C 5: 110,720,825 D911G unknown Het
Fam171a1 T C 2: 3,223,586 probably null Het
Fcgbp T C 7: 28,106,970 V2121A possibly damaging Het
Fggy G A 4: 95,623,477 probably benign Het
Fignl1 G T 11: 11,802,845 T70K possibly damaging Het
Fndc3b T C 3: 27,620,652 E47G probably damaging Het
Frmd4a A G 2: 4,534,574 K189E possibly damaging Het
Hpse T A 5: 100,691,333 Y383F probably damaging Het
Ip6k2 T C 9: 108,804,599 L197P probably damaging Het
Klf1 A C 8: 84,904,932 H375P probably damaging Het
Krtap6-5 T A 16: 89,047,846 probably benign Het
Lacc1 A T 14: 77,029,615 S403T probably damaging Het
Lama3 A G 18: 12,556,750 I2850V possibly damaging Het
Lats2 C T 14: 57,691,595 R941Q probably damaging Het
Lgals3bp A T 11: 118,393,464 Y430N probably benign Het
Lrig3 A T 10: 126,014,874 H1103L probably benign Het
Lrrc40 G A 3: 158,036,728 M1I probably null Het
Maats1 G T 16: 38,332,819 probably benign Het
Magee2 A T X: 104,856,793 V84D possibly damaging Het
Msantd2 G A 9: 37,523,306 V281I possibly damaging Het
Mycbpap A G 11: 94,503,250 V340A probably damaging Het
Myh6 A T 14: 54,944,318 M1842K probably benign Het
Mylk4 T C 13: 32,722,147 D145G possibly damaging Het
Nfkbid C T 7: 30,425,264 Q160* probably null Het
Olfr1133 T A 2: 87,645,286 Y279F probably damaging Het
Olfr1389 A T 11: 49,431,032 K185N probably damaging Het
Olfr1497 T G 19: 13,795,329 Q94P possibly damaging Het
Olfr251 A T 9: 38,378,246 T122S probably damaging Het
Olfr745 T A 14: 50,642,518 probably null Het
Olfr859 C T 9: 19,809,047 S243F probably damaging Het
Pdgfrb A C 18: 61,080,332 Q916P probably damaging Het
Pex14 T C 4: 148,966,286 Q174R probably benign Het
Pogz T C 3: 94,879,010 S970P probably damaging Het
Rabggta A G 14: 55,718,495 V165A possibly damaging Het
Rdh10 G A 1: 16,106,214 W66* probably null Het
Ripor2 T A 13: 24,695,566 probably benign Het
Slc35g1 T A 19: 38,403,230 M320K possibly damaging Het
Slc9a7 A G X: 20,202,724 Y197H probably damaging Het
Smn1 T C 13: 100,135,684 probably benign Het
Spam1 G A 6: 24,796,697 G216S probably damaging Het
Spata31 A T 13: 64,920,380 N114I probably damaging Het
Sptbn1 A T 11: 30,119,491 V1615D possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc2 T A X: 41,825,478 Q1005H possibly damaging Het
Thra G A 11: 98,761,916 R189Q probably damaging Het
Trappc11 A T 8: 47,530,650 probably null Het
Vps13d G T 4: 145,156,364 H886Q probably damaging Het
Zfp157 G A 5: 138,447,597 W71* probably null Het
Other mutations in Brca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Brca1 APN 11 101524369 missense possibly damaging 0.71
IGL01598:Brca1 APN 11 101524330 missense probably benign 0.04
IGL01744:Brca1 APN 11 101524176 missense possibly damaging 0.73
IGL02128:Brca1 APN 11 101530982 unclassified probably benign
IGL02701:Brca1 APN 11 101525235 missense probably damaging 1.00
IGL02732:Brca1 APN 11 101492219 missense probably benign 0.07
IGL02935:Brca1 APN 11 101489867 missense probably benign 0.00
IGL02940:Brca1 APN 11 101489912 missense probably benign 0.00
IGL03198:Brca1 APN 11 101512711 splice site probably benign
PIT4142001:Brca1 UTSW 11 101522422 unclassified probably benign
R0048:Brca1 UTSW 11 101524977 missense possibly damaging 0.94
R0048:Brca1 UTSW 11 101524977 missense possibly damaging 0.94
R0109:Brca1 UTSW 11 101531090 missense possibly damaging 0.85
R0109:Brca1 UTSW 11 101531090 missense possibly damaging 0.85
R0144:Brca1 UTSW 11 101526121 missense probably damaging 1.00
R0336:Brca1 UTSW 11 101523993 missense probably benign 0.04
R0448:Brca1 UTSW 11 101508221 missense possibly damaging 0.93
R0595:Brca1 UTSW 11 101524887 missense probably benign 0.27
R0613:Brca1 UTSW 11 101508210 missense probably benign 0.18
R0863:Brca1 UTSW 11 101524770 missense probably benign 0.36
R0940:Brca1 UTSW 11 101532143 missense possibly damaging 0.73
R0962:Brca1 UTSW 11 101525366 missense possibly damaging 0.46
R1365:Brca1 UTSW 11 101501996 missense probably benign
R1391:Brca1 UTSW 11 101526546 missense possibly damaging 0.53
R1467:Brca1 UTSW 11 101531107 unclassified probably benign
R1484:Brca1 UTSW 11 101529812 missense possibly damaging 0.86
R1530:Brca1 UTSW 11 101524695 missense probably damaging 1.00
R1645:Brca1 UTSW 11 101510053 missense probably benign 0.00
R1682:Brca1 UTSW 11 101525565 missense probably damaging 0.98
R1687:Brca1 UTSW 11 101489840 missense probably benign
R1694:Brca1 UTSW 11 101532099 missense probably damaging 0.98
R1695:Brca1 UTSW 11 101524455 missense probably damaging 0.97
R1762:Brca1 UTSW 11 101532018 critical splice donor site probably null
R1868:Brca1 UTSW 11 101498013 missense probably benign
R1973:Brca1 UTSW 11 101526403 missense probably benign 0.22
R2034:Brca1 UTSW 11 101489849 missense probably benign
R2106:Brca1 UTSW 11 101524977 missense possibly damaging 0.94
R4089:Brca1 UTSW 11 101524176 missense possibly damaging 0.73
R4194:Brca1 UTSW 11 101525287 missense probably benign 0.02
R4571:Brca1 UTSW 11 101517366 missense probably benign 0.00
R4735:Brca1 UTSW 11 101492175 splice site probably null
R4789:Brca1 UTSW 11 101523932 missense probably benign 0.00
R4920:Brca1 UTSW 11 101524959 missense probably damaging 1.00
R4939:Brca1 UTSW 11 101508050 missense probably benign
R4997:Brca1 UTSW 11 101524333 missense probably damaging 0.96
R5458:Brca1 UTSW 11 101517285 missense possibly damaging 0.53
R5778:Brca1 UTSW 11 101525301 missense possibly damaging 0.47
R6051:Brca1 UTSW 11 101524246 missense probably damaging 1.00
R6505:Brca1 UTSW 11 101523541 missense probably benign 0.03
R6548:Brca1 UTSW 11 101524765 missense probably damaging 1.00
R6971:Brca1 UTSW 11 101534005 missense probably benign 0.18
R7091:Brca1 UTSW 11 101526427 missense probably benign 0.00
Posted On2015-04-16