Incidental Mutation 'R8003:Brca1'
ID 616469
Institutional Source Beutler Lab
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Name breast cancer 1, early onset
Synonyms
MMRRC Submission 046043-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8003 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101379590-101442781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101415303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 944 (G944R)
Ref Sequence ENSEMBL: ENSMUSP00000017290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000142086] [ENSMUST00000191198]
AlphaFold P48754
Predicted Effect probably benign
Transcript: ENSMUST00000017290
AA Change: G944R

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: G944R

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 probably benign
Transcript: ENSMUST00000142086
SMART Domains Protein: ENSMUSP00000139813
Gene: ENSMUSG00000017146

DomainStartEndE-ValueType
RING 24 64 8.6e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191198
SMART Domains Protein: ENSMUSP00000139737
Gene: ENSMUSG00000017146

DomainStartEndE-ValueType
Pfam:EIN3 1 146 3.5e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A G 14: 56,019,092 (GRCm39) V155A probably benign Het
Arfgef2 A G 2: 166,695,208 (GRCm39) Y527C probably damaging Het
C2cd2 A G 16: 97,687,286 (GRCm39) probably null Het
Cass4 T C 2: 172,269,879 (GRCm39) F654L unknown Het
Ccdc178 A T 18: 21,977,944 (GRCm39) probably null Het
Cct4 T C 11: 22,946,040 (GRCm39) probably null Het
Cish T C 9: 107,174,227 (GRCm39) V5A possibly damaging Het
Col5a1 G A 2: 27,848,340 (GRCm39) probably benign Het
Col6a3 G T 1: 90,703,455 (GRCm39) N3037K unknown Het
Csmd2 T A 4: 128,432,980 (GRCm39) C3012* probably null Het
Dclk2 T C 3: 86,700,608 (GRCm39) probably null Het
Dhx38 A T 8: 110,282,772 (GRCm39) D631E probably damaging Het
Eif2ak2 C A 17: 79,183,652 (GRCm39) A66S probably damaging Het
Ephx2 A G 14: 66,361,782 (GRCm39) probably null Het
Fbxw10 T G 11: 62,748,587 (GRCm39) C405G possibly damaging Het
Galnt13 G T 2: 54,950,497 (GRCm39) G393* probably null Het
Gm5591 G T 7: 38,219,183 (GRCm39) H563Q probably damaging Het
Gtf3c5 A G 2: 28,459,373 (GRCm39) I394T probably benign Het
Hectd4 G A 5: 121,477,581 (GRCm39) A2835T possibly damaging Het
Herc2 A G 7: 55,818,652 (GRCm39) D2781G possibly damaging Het
Kmt2b G T 7: 30,268,802 (GRCm39) H2642Q probably damaging Het
Lars1 A T 18: 42,354,684 (GRCm39) D754E probably damaging Het
Lrpprc A C 17: 85,059,745 (GRCm39) S690A probably benign Het
Map3k6 A G 4: 132,976,193 (GRCm39) T805A probably benign Het
Mthfd1l T G 10: 3,934,147 (GRCm39) S160A probably benign Het
Mtmr6 G A 14: 60,519,544 (GRCm39) probably null Het
Mybpc2 A T 7: 44,158,488 (GRCm39) M698K probably damaging Het
Myh8 T A 11: 67,190,586 (GRCm39) L1304M probably damaging Het
Mylip T A 13: 45,557,947 (GRCm39) V117E probably benign Het
Npc1l1 T C 11: 6,165,129 (GRCm39) Q1061R probably benign Het
Or12e13 A G 2: 87,664,081 (GRCm39) R233G probably benign Het
Or5d37 A T 2: 87,923,589 (GRCm39) Y230* probably null Het
Pkd2l2 G A 18: 34,561,232 (GRCm39) M413I probably damaging Het
Plch2 C T 4: 155,138,980 (GRCm39) G19D unknown Het
Pramel17 T C 4: 101,693,130 (GRCm39) K290R probably benign Het
Psg22 A C 7: 18,458,350 (GRCm39) Y347S probably damaging Het
Ptpre C A 7: 135,270,765 (GRCm39) Q314K probably damaging Het
Rgs6 T C 12: 83,032,144 (GRCm39) S54P probably damaging Het
Sbds C A 5: 130,279,726 (GRCm39) V130F possibly damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc24a2 A T 4: 87,094,552 (GRCm39) D322E probably benign Het
Slc45a4 G T 15: 73,457,162 (GRCm39) Y585* probably null Het
Slc7a4 A C 16: 17,392,315 (GRCm39) V373G possibly damaging Het
Sulf1 G A 1: 12,908,825 (GRCm39) V613M probably damaging Het
Syt1 T C 10: 108,472,434 (GRCm39) D150G probably damaging Het
Tnpo3 C A 6: 29,551,900 (GRCm39) V888F probably benign Het
Trim9 T C 12: 70,393,608 (GRCm39) H112R probably benign Het
Vmn2r80 T C 10: 78,984,711 (GRCm39) I21T probably benign Het
Wdr41 C A 13: 95,149,654 (GRCm39) A286E possibly damaging Het
Wnt8b T A 19: 44,500,396 (GRCm39) C328S probably damaging Het
Ybx3 A T 6: 131,345,400 (GRCm39) Y324* probably null Het
Zmynd15 T A 11: 70,351,767 (GRCm39) H124Q 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
R2106:Brca1 UTSW 11 101,415,803 (GRCm39) missense possibly damaging 0.94
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
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'- ACTGTGTGCACTGTACTCTGAAG -3'
(R):5'- CCCTCAAAGGAACTGAGTCC -3'

Sequencing Primer
(F):5'- GTGCACTGTACTCTGAAGAATGTTC -3'
(R):5'- CTGAGTCCAAAGGTGACAGC -3'
Posted On 2020-01-23