Incidental Mutation 'R0613:Brca1'
ID 54904
Institutional Source Beutler Lab
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Name breast cancer 1, early onset
Synonyms
MMRRC Submission 038802-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0613 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101379590-101442781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101399036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1519 (S1519T)
Ref Sequence ENSEMBL: ENSMUSP00000017290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017290]
AlphaFold P48754
Predicted Effect probably benign
Transcript: ENSMUST00000017290
AA Change: S1519T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: S1519T

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 noncoding transcript
Transcript: ENSMUST00000156843
Meta Mutation Damage Score 0.1320 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd A T 8: 106,427,200 (GRCm39) probably null Het
Adcy9 A G 16: 4,237,403 (GRCm39) S3P probably damaging Het
Adgrl4 T C 3: 151,248,859 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,004 (GRCm39) E700G probably benign Het
Ahctf1 A G 1: 179,596,979 (GRCm39) S56P probably damaging Het
Atp12a T A 14: 56,611,978 (GRCm39) I384N probably damaging Het
Ccl25 T C 8: 4,399,850 (GRCm39) V94A probably benign Het
Cep170 T C 1: 176,602,246 (GRCm39) T287A probably benign Het
Ces1a A G 8: 93,752,209 (GRCm39) S383P probably benign Het
Cntnap3 A T 13: 64,906,228 (GRCm39) F793I probably damaging Het
Ctsm T C 13: 61,687,496 (GRCm39) R89G probably damaging Het
Cyp2j12 T G 4: 95,990,316 (GRCm39) T417P probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Edn2 T A 4: 120,019,061 (GRCm39) probably null Het
Emc1 T A 4: 139,102,383 (GRCm39) probably benign Het
Entrep1 T A 19: 23,963,853 (GRCm39) N239Y probably damaging Het
Fras1 T C 5: 96,848,347 (GRCm39) probably benign Het
Fsip2 A T 2: 82,824,139 (GRCm39) D6624V probably damaging Het
Gpr107 A G 2: 31,068,297 (GRCm39) Y253C probably damaging Het
Gpr108 A G 17: 57,545,174 (GRCm39) probably benign Het
Grik1 A G 16: 87,848,221 (GRCm39) probably null Het
Gtf3c1 G A 7: 125,243,306 (GRCm39) P1766L possibly damaging Het
Gucy2c A T 6: 136,737,721 (GRCm39) N293K probably damaging Het
Hps6 C A 19: 45,992,260 (GRCm39) P66T probably benign Het
Hspa9 A T 18: 35,081,033 (GRCm39) V216E probably damaging Het
Igsf8 T A 1: 172,145,156 (GRCm39) M224K probably benign Het
Igsf9b T C 9: 27,238,216 (GRCm39) V569A probably damaging Het
Itgb4 A T 11: 115,884,168 (GRCm39) I952F probably damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Khdrbs2 A G 1: 32,696,603 (GRCm39) H344R possibly damaging Het
Kmo C A 1: 175,465,458 (GRCm39) R71S probably damaging Het
Lrrc31 A G 3: 30,739,184 (GRCm39) probably benign Het
Map1b T A 13: 99,578,149 (GRCm39) D168V probably damaging Het
Mfsd6 T C 1: 52,697,855 (GRCm39) probably benign Het
Mgst1 G A 6: 138,133,243 (GRCm39) G186D probably damaging Het
Mrc1 C T 2: 14,299,630 (GRCm39) A740V probably damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mtor T C 4: 148,610,503 (GRCm39) Y1605H possibly damaging Het
Ncoa4 T A 14: 31,898,509 (GRCm39) L443Q probably damaging Het
Nelfa G A 5: 34,060,807 (GRCm39) probably benign Het
Nepn T A 10: 52,277,353 (GRCm39) L363Q probably damaging Het
Nfat5 A G 8: 108,092,927 (GRCm39) T630A possibly damaging Het
Nipal4 A T 11: 46,041,211 (GRCm39) V328E probably benign Het
Or11h4b T A 14: 50,918,861 (GRCm39) I77F probably benign Het
Or2y1e T A 11: 49,218,575 (GRCm39) S112R possibly damaging Het
Or4c122 A T 2: 89,079,469 (GRCm39) C178S probably damaging Het
Or4d2b A T 11: 87,780,053 (GRCm39) V223E possibly damaging Het
Or6c76 T A 10: 129,612,131 (GRCm39) M116K probably damaging Het
Or8d2 T A 9: 38,759,909 (GRCm39) C166* probably null Het
Otogl A T 10: 107,652,931 (GRCm39) N1140K probably damaging Het
Ppip5k2 A C 1: 97,680,465 (GRCm39) Y236* probably null Het
Prelid1 C T 13: 55,472,156 (GRCm39) R111* probably null Het
Prpf8 T C 11: 75,394,270 (GRCm39) L1771P probably damaging Het
Ptprb A T 10: 116,138,230 (GRCm39) Y378F possibly damaging Het
Ptprb A G 10: 116,138,283 (GRCm39) T396A possibly damaging Het
Rab3il1 T C 19: 10,005,728 (GRCm39) L174P probably damaging Het
Rab4a T C 8: 124,550,574 (GRCm39) V18A possibly damaging Het
Scn3a T A 2: 65,302,628 (GRCm39) M1273L possibly damaging Het
Sdhc A T 1: 170,957,413 (GRCm39) V156E probably benign Het
Slco3a1 T C 7: 73,996,382 (GRCm39) probably benign Het
Syne3 T C 12: 104,924,371 (GRCm39) T343A probably benign Het
Syt11 A G 3: 88,669,776 (GRCm39) C39R probably damaging Het
Tll2 G T 19: 41,093,429 (GRCm39) D462E probably damaging Het
Tmem132e T A 11: 82,329,164 (GRCm39) V481D probably damaging Het
Tmem161b C T 13: 84,399,439 (GRCm39) L17F probably damaging Het
Vmn2r105 T A 17: 20,428,578 (GRCm39) I833F probably damaging Het
Vstm2a A T 11: 16,213,140 (GRCm39) N175I probably damaging Het
Xpnpep1 G T 19: 52,994,784 (GRCm39) D238E probably damaging Het
Zfp112 G A 7: 23,826,453 (GRCm39) G807D probably benign Het
Zfp518b A T 5: 38,830,946 (GRCm39) V353E probably damaging Het
Zfp69 T C 4: 120,791,544 (GRCm39) E39G probably benign Het
Zfp865 A G 7: 5,032,090 (GRCm39) H25R possibly 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
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
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'- TGCTTTATCAGCACCAGCAGCAG -3'
(R):5'- AGAGCCAACCCTTTACATATAATGCCG -3'

Sequencing Primer
(F):5'- GCAACTTGACCTTGGGGTAT -3'
(R):5'- ctcttaaccactgagccacc -3'
Posted On 2013-07-11