Incidental Mutation 'R2106:Brca1'
ID 230995
Institutional Source Beutler Lab
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Name breast cancer 1, early onset
Synonyms
MMRRC Submission 040110-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2106 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101379590-101442781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101415803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 777 (V777A)
Ref Sequence ENSEMBL: ENSMUSP00000017290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000142086] [ENSMUST00000191198]
AlphaFold P48754
Predicted Effect possibly damaging
Transcript: ENSMUST00000017290
AA Change: V777A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: V777A

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
SMART Domains Protein: ENSMUSP00000139737
Gene: ENSMUSG00000017146

DomainStartEndE-ValueType
Pfam:EIN3 1 146 3.5e-18 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T C 2: 26,992,837 (GRCm39) F650S probably benign Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akr1c13 T A 13: 4,248,593 (GRCm39) V266E probably damaging Het
Ankrd61 A T 5: 143,828,564 (GRCm39) L95Q probably damaging Het
Atp11a A G 8: 12,885,228 (GRCm39) T22A probably benign Het
Ccdc40 G T 11: 119,155,123 (GRCm39) R1121L probably damaging Het
Cdhr4 A C 9: 107,874,693 (GRCm39) S588R possibly damaging Het
Cfap69 T C 5: 5,645,979 (GRCm39) N517D probably benign Het
Chrm2 T C 6: 36,500,382 (GRCm39) Y80H probably damaging Het
Cimip2a A G 2: 25,110,663 (GRCm39) Y157C probably damaging Het
Csgalnact2 G T 6: 118,086,090 (GRCm39) Y534* probably null Het
Defb35 A G 8: 22,430,809 (GRCm39) E61G unknown Het
Dhx15 A T 5: 52,327,428 (GRCm39) D95E probably benign Het
Dhx57 A G 17: 80,582,792 (GRCm39) V271A probably damaging Het
Dlg1 T C 16: 31,631,574 (GRCm39) S444P probably damaging Het
Edem1 T A 6: 108,825,686 (GRCm39) N406K probably damaging Het
Eif4g3 A T 4: 137,810,230 (GRCm39) probably benign Het
Epb41 A G 4: 131,717,152 (GRCm39) I56T probably damaging Het
Epg5 T A 18: 78,034,578 (GRCm39) Y1442* probably null Het
Fat2 T C 11: 55,147,390 (GRCm39) T3951A probably benign Het
Fryl A G 5: 73,255,674 (GRCm39) S786P probably damaging Het
Fyb2 A G 4: 104,802,769 (GRCm39) T224A probably benign Het
Ginm1 A T 10: 7,651,090 (GRCm39) F105L probably damaging Het
Heatr1 T C 13: 12,426,939 (GRCm39) V688A probably benign Het
Hnmt T G 2: 23,909,130 (GRCm39) Q94H probably benign Het
Ice1 A G 13: 70,753,741 (GRCm39) Y782H probably benign Het
Immt T C 6: 71,848,499 (GRCm39) V418A possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Krt84 T C 15: 101,439,301 (GRCm39) N248D probably damaging Het
Lig1 C A 7: 13,039,863 (GRCm39) R692S probably damaging Het
Lvrn G T 18: 47,011,356 (GRCm39) A438S probably damaging Het
Mast4 C T 13: 102,887,054 (GRCm39) V1204I probably damaging Het
Med21 G T 6: 146,550,710 (GRCm39) D74Y probably damaging Het
Nat8 T C 6: 85,807,506 (GRCm39) D209G probably benign Het
Nipal1 C A 5: 72,820,902 (GRCm39) F132L probably damaging Het
Npr2 A T 4: 43,644,329 (GRCm39) I613F probably damaging Het
Nrcam A G 12: 44,617,073 (GRCm39) T706A probably benign Het
Or5w1b A G 2: 87,475,895 (GRCm39) S191P probably damaging Het
Or8w1 T C 2: 87,465,503 (GRCm39) E196G probably benign Het
Pam A G 1: 97,759,215 (GRCm39) V823A probably damaging Het
Pdik1l A T 4: 134,011,565 (GRCm39) Y93N probably damaging Het
Perm1 T C 4: 156,303,336 (GRCm39) W627R probably damaging Het
Pofut1 G A 2: 153,101,713 (GRCm39) probably null Het
Prmt5 T C 14: 54,745,374 (GRCm39) I598V probably benign Het
Rab11fip5 T C 6: 85,351,369 (GRCm39) I48V probably damaging Het
Rad51d T A 11: 82,770,134 (GRCm39) K261N probably damaging Het
Rapgef6 T G 11: 54,559,512 (GRCm39) I1050S probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr3 T C 2: 112,468,474 (GRCm39) E4688G probably damaging Het
Siva1 G T 12: 112,613,440 (GRCm39) R96L probably damaging Het
Slc13a4 T C 6: 35,264,799 (GRCm39) N140S probably damaging Het
Slc26a5 T A 5: 22,028,542 (GRCm39) D342V probably damaging Het
Slfn9 A G 11: 82,878,506 (GRCm39) S208P possibly damaging Het
Sspo C A 6: 48,443,250 (GRCm39) T1899N possibly damaging Het
Sytl1 T C 4: 132,984,774 (GRCm39) D200G probably benign Het
Tas2r118 T C 6: 23,969,569 (GRCm39) N164S probably benign Het
Tbc1d17 A G 7: 44,497,692 (GRCm39) probably null Het
Tex14 T C 11: 87,377,076 (GRCm39) M140T possibly damaging Het
Tm6sf2 T C 8: 70,532,396 (GRCm39) F352S probably benign Het
Tmem88 A G 11: 69,288,685 (GRCm39) L78P probably benign Het
Trafd1 A G 5: 121,511,274 (GRCm39) S515P probably benign Het
Trpm6 A T 19: 18,790,714 (GRCm39) E583V possibly damaging Het
Ttc23l A G 15: 10,547,342 (GRCm39) C91R probably damaging Het
Ubap1l T C 9: 65,281,089 (GRCm39) S256P probably benign Het
Vmn1r26 T G 6: 57,985,710 (GRCm39) S160R possibly damaging Het
Vmn2r97 A G 17: 19,168,100 (GRCm39) S785G probably damaging Het
Wdr27 T G 17: 15,141,116 (GRCm39) R278S probably benign Het
Wdr7 T C 18: 63,911,109 (GRCm39) S834P probably damaging Het
Zdhhc12 C T 2: 29,981,814 (GRCm39) C116Y probably damaging Het
Zfp946 T C 17: 22,672,466 (GRCm39) F22L probably benign Het
Zfp948 G T 17: 21,807,953 (GRCm39) E382* probably null Het
Zfp956 T A 6: 47,941,359 (GRCm39) *573K probably null Het
Zim1 T G 7: 6,681,073 (GRCm39) T197P probably benign Het
Other mutations in Brca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Brca1 APN 11 101,415,195 (GRCm39) missense possibly damaging 0.71
IGL01598:Brca1 APN 11 101,415,156 (GRCm39) missense probably benign 0.04
IGL01744:Brca1 APN 11 101,415,002 (GRCm39) missense possibly damaging 0.73
IGL02128:Brca1 APN 11 101,421,808 (GRCm39) unclassified probably benign
IGL02377:Brca1 APN 11 101,415,149 (GRCm39) missense probably benign 0.01
IGL02701:Brca1 APN 11 101,416,061 (GRCm39) missense probably damaging 1.00
IGL02732:Brca1 APN 11 101,383,045 (GRCm39) missense probably benign 0.07
IGL02935:Brca1 APN 11 101,380,693 (GRCm39) missense probably benign 0.00
IGL02940:Brca1 APN 11 101,380,738 (GRCm39) missense probably benign 0.00
IGL03198:Brca1 APN 11 101,403,537 (GRCm39) splice site probably benign
BB002:Brca1 UTSW 11 101,398,972 (GRCm39) missense probably benign 0.01
BB009:Brca1 UTSW 11 101,430,843 (GRCm39) missense possibly damaging 0.85
BB012:Brca1 UTSW 11 101,398,972 (GRCm39) missense probably benign 0.01
BB019:Brca1 UTSW 11 101,430,843 (GRCm39) missense possibly damaging 0.85
PIT4142001:Brca1 UTSW 11 101,413,248 (GRCm39) unclassified probably benign
R0048:Brca1 UTSW 11 101,415,803 (GRCm39) missense possibly damaging 0.94
R0048:Brca1 UTSW 11 101,415,803 (GRCm39) missense possibly damaging 0.94
R0109:Brca1 UTSW 11 101,421,916 (GRCm39) missense possibly damaging 0.85
R0109:Brca1 UTSW 11 101,421,916 (GRCm39) missense possibly damaging 0.85
R0144:Brca1 UTSW 11 101,416,947 (GRCm39) missense probably damaging 1.00
R0336:Brca1 UTSW 11 101,414,819 (GRCm39) missense probably benign 0.04
R0448:Brca1 UTSW 11 101,399,047 (GRCm39) missense possibly damaging 0.93
R0595:Brca1 UTSW 11 101,415,713 (GRCm39) missense probably benign 0.27
R0613:Brca1 UTSW 11 101,399,036 (GRCm39) missense probably benign 0.18
R0863:Brca1 UTSW 11 101,415,596 (GRCm39) missense probably benign 0.36
R0940:Brca1 UTSW 11 101,422,969 (GRCm39) missense possibly damaging 0.73
R0962:Brca1 UTSW 11 101,416,192 (GRCm39) missense possibly damaging 0.46
R1365:Brca1 UTSW 11 101,392,822 (GRCm39) missense probably benign
R1391:Brca1 UTSW 11 101,417,372 (GRCm39) missense possibly damaging 0.53
R1467:Brca1 UTSW 11 101,421,933 (GRCm39) unclassified probably benign
R1484:Brca1 UTSW 11 101,420,638 (GRCm39) missense possibly damaging 0.86
R1530:Brca1 UTSW 11 101,415,521 (GRCm39) missense probably damaging 1.00
R1645:Brca1 UTSW 11 101,400,879 (GRCm39) missense probably benign 0.00
R1682:Brca1 UTSW 11 101,416,391 (GRCm39) missense probably damaging 0.98
R1687:Brca1 UTSW 11 101,380,666 (GRCm39) missense probably benign
R1694:Brca1 UTSW 11 101,422,925 (GRCm39) missense probably damaging 0.98
R1695:Brca1 UTSW 11 101,415,281 (GRCm39) missense probably damaging 0.97
R1762:Brca1 UTSW 11 101,422,844 (GRCm39) critical splice donor site probably null
R1868:Brca1 UTSW 11 101,388,839 (GRCm39) missense probably benign
R1973:Brca1 UTSW 11 101,417,229 (GRCm39) missense probably benign 0.22
R2034:Brca1 UTSW 11 101,380,675 (GRCm39) missense probably benign
R4089:Brca1 UTSW 11 101,415,002 (GRCm39) missense possibly damaging 0.73
R4194:Brca1 UTSW 11 101,416,113 (GRCm39) missense probably benign 0.02
R4571:Brca1 UTSW 11 101,408,192 (GRCm39) missense probably benign 0.00
R4735:Brca1 UTSW 11 101,383,001 (GRCm39) splice site probably null
R4789:Brca1 UTSW 11 101,414,758 (GRCm39) missense probably benign 0.00
R4920:Brca1 UTSW 11 101,415,785 (GRCm39) missense probably damaging 1.00
R4939:Brca1 UTSW 11 101,398,876 (GRCm39) missense probably benign
R4997:Brca1 UTSW 11 101,415,159 (GRCm39) missense probably damaging 0.96
R5458:Brca1 UTSW 11 101,408,111 (GRCm39) missense possibly damaging 0.53
R5778:Brca1 UTSW 11 101,416,127 (GRCm39) missense possibly damaging 0.47
R6051:Brca1 UTSW 11 101,415,072 (GRCm39) missense probably damaging 1.00
R6505:Brca1 UTSW 11 101,414,367 (GRCm39) missense probably benign 0.03
R6548:Brca1 UTSW 11 101,415,591 (GRCm39) missense probably damaging 1.00
R6971:Brca1 UTSW 11 101,424,831 (GRCm39) missense probably benign 0.18
R7091:Brca1 UTSW 11 101,417,253 (GRCm39) missense probably benign 0.00
R7246:Brca1 UTSW 11 101,414,204 (GRCm39) missense probably benign 0.00
R7417:Brca1 UTSW 11 101,415,807 (GRCm39) missense probably damaging 1.00
R7861:Brca1 UTSW 11 101,417,248 (GRCm39) missense possibly damaging 0.87
R7925:Brca1 UTSW 11 101,398,972 (GRCm39) missense probably benign 0.01
R7932:Brca1 UTSW 11 101,430,843 (GRCm39) missense possibly damaging 0.85
R8003:Brca1 UTSW 11 101,415,303 (GRCm39) missense probably benign 0.22
R8046:Brca1 UTSW 11 101,416,296 (GRCm39) missense probably benign 0.03
R8306:Brca1 UTSW 11 101,416,463 (GRCm39) missense probably damaging 1.00
R8483:Brca1 UTSW 11 101,416,802 (GRCm39) missense probably damaging 0.99
R8685:Brca1 UTSW 11 101,380,672 (GRCm39) missense probably benign 0.19
R9072:Brca1 UTSW 11 101,393,306 (GRCm39) critical splice donor site probably null
R9073:Brca1 UTSW 11 101,393,306 (GRCm39) critical splice donor site probably null
R9486:Brca1 UTSW 11 101,414,520 (GRCm39) missense probably benign 0.00
R9505:Brca1 UTSW 11 101,403,592 (GRCm39) missense probably benign 0.00
R9616:Brca1 UTSW 11 101,416,683 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGAGTATCAAGTTCACTGTCTTC -3'
(R):5'- TCTCAAGGGCCTGTCAATCC -3'

Sequencing Primer
(F):5'- CATTTCTACTTTCTCCTGACTGAGG -3'
(R):5'- TGTCAATCCCAGCCCTCAGAG -3'
Posted On 2014-09-18