Incidental Mutation 'R5778:Brca1'
ID 446836
Institutional Source Beutler Lab
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Name breast cancer 1, early onset
Synonyms
MMRRC Submission 043376-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5778 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101379590-101442781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101416127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 669 (A669V)
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: A669V

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: A669V

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 A G 8: 124,618,864 (GRCm39) S340P probably benign Het
Anpep T C 7: 79,486,139 (GRCm39) T528A probably benign Het
Apob T A 12: 8,065,074 (GRCm39) D4014E probably benign Het
Atp23 A G 10: 126,735,451 (GRCm39) C78R probably damaging Het
Atp8b3 A G 10: 80,356,007 (GRCm39) F1235S probably benign Het
B3gnt3 T C 8: 72,145,582 (GRCm39) D262G probably benign Het
Bltp1 A T 3: 37,012,863 (GRCm39) I1848F probably damaging Het
Caprin2 A T 6: 148,770,820 (GRCm39) S391R probably benign Het
Cdh15 G A 8: 123,583,326 (GRCm39) R43Q possibly damaging Het
Celsr1 A T 15: 85,917,156 (GRCm39) N272K probably damaging Het
Cryzl2 T G 1: 157,298,357 (GRCm39) S249A probably benign Het
Dsg1b A T 18: 20,542,279 (GRCm39) T929S possibly damaging Het
Dusp16 G T 6: 134,695,277 (GRCm39) T518N probably benign Het
Eno2 A T 6: 124,743,261 (GRCm39) H158Q probably damaging Het
Ep400 T C 5: 110,867,450 (GRCm39) D954G unknown Het
Erg28 T C 12: 85,866,254 (GRCm39) T75A possibly damaging Het
Fam135b T A 15: 71,350,881 (GRCm39) T332S probably damaging Het
Fam221b A G 4: 43,660,683 (GRCm39) F357L probably damaging Het
Fcgr2b C T 1: 170,790,957 (GRCm39) G279R probably damaging Het
Fryl A T 5: 73,230,121 (GRCm39) L1679M probably damaging Het
Galm T A 17: 80,435,146 (GRCm39) M1K probably null Het
Gsg1 A T 6: 135,221,348 (GRCm39) I17N possibly damaging Het
Hif3a A T 7: 16,785,909 (GRCm39) I129N probably damaging Het
Ighv1-11 A T 12: 114,576,051 (GRCm39) W55R probably damaging Het
Ighv1-20 C A 12: 114,687,497 (GRCm39) K82N probably benign Het
Igsf21 C T 4: 139,764,832 (GRCm39) E148K probably benign Het
Il22b C A 10: 118,130,768 (GRCm39) E43* probably null Het
Klhdc7b A T 15: 89,271,523 (GRCm39) R802W probably damaging Het
Krt8 T C 15: 101,912,374 (GRCm39) I101V probably damaging Het
Lrrc7 A G 3: 157,876,380 (GRCm39) L570P probably damaging Het
Map4k1 C G 7: 28,693,646 (GRCm39) N412K probably benign Het
Metrnl A T 11: 121,605,564 (GRCm39) I118F possibly damaging Het
Mmp12 T A 9: 7,350,106 (GRCm39) D202E probably damaging Het
Mpp2 A T 11: 101,955,269 (GRCm39) S119T probably benign Het
Ncoa6 T C 2: 155,248,688 (GRCm39) T1539A probably benign Het
Nlrc5 A G 8: 95,206,154 (GRCm39) T715A possibly damaging Het
Nsd1 T A 13: 55,454,792 (GRCm39) N1963K probably damaging Het
Nsd3 T C 8: 26,149,834 (GRCm39) Y340H probably damaging Het
Nwd1 T A 8: 73,419,745 (GRCm39) S977T probably damaging Het
Or5d39 T A 2: 87,979,961 (GRCm39) Y134F probably damaging Het
Or7d10 G T 9: 19,832,337 (GRCm39) M277I probably benign Het
Pcdh8 T C 14: 80,008,197 (GRCm39) E122G probably damaging Het
Pcmtd2 A C 2: 181,496,991 (GRCm39) T323P probably benign Het
Pign C A 1: 105,519,447 (GRCm39) G492C probably damaging Het
Plppr3 A G 10: 79,702,337 (GRCm39) V245A possibly damaging Het
Prl7a2 C T 13: 27,844,983 (GRCm39) W134* probably null Het
Prom1 A T 5: 44,164,389 (GRCm39) N722K probably benign Het
Rasal2 A T 1: 156,988,860 (GRCm39) N663K probably damaging Het
Rgl1 G T 1: 152,428,172 (GRCm39) H315Q probably benign Het
Smpdl3a C A 10: 57,677,097 (GRCm39) A65E probably damaging Het
Spdye4b G A 5: 143,188,142 (GRCm39) D212N probably damaging Het
Tafa3 T A 3: 104,679,505 (GRCm39) K126N probably damaging Het
Tanc1 G T 2: 59,529,691 (GRCm39) probably null Het
Trio A G 15: 27,856,250 (GRCm39) V706A probably benign Het
Tshz1 T A 18: 84,033,805 (GRCm39) Q201L probably damaging Het
Ubqln1 C T 13: 58,331,131 (GRCm39) M365I probably benign Het
Usp42 A T 5: 143,705,331 (GRCm39) Y383N probably damaging Het
Vmn1r189 A G 13: 22,286,552 (GRCm39) I95T probably damaging Het
Vmn2r49 A T 7: 9,710,274 (GRCm39) S819R probably damaging 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
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'- CCGAGTTCTTTGGCACTGTC -3'
(R):5'- GGAGGAAGTCTTCTATCAGGTG -3'

Sequencing Primer
(F):5'- GCACTGTCAGACATTTGGC -3'
(R):5'- AGGTGTGCTCTTCCACTTGAAC -3'
Posted On 2016-12-15