Incidental Mutation 'R6971:Brca1'
ID 542263
Institutional Source Beutler Lab
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Name breast cancer 1, early onset
Synonyms
MMRRC Submission 045081-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6971 (G1)
Quality Score 182.009
Status Validated
Chromosome 11
Chromosomal Location 101379590-101442781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101424831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 32 (F32L)
Ref Sequence ENSEMBL: ENSMUSP00000139599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000142086] [ENSMUST00000190862]
AlphaFold P48754
Predicted Effect probably benign
Transcript: ENSMUST00000017290
AA Change: F79L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: F79L

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: ENSMUST00000190862
AA Change: F32L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139599
Gene: ENSMUSG00000017146
AA Change: F32L

DomainStartEndE-ValueType
SCOP:d1jm7a_ 1 56 1e-6 SMART
PDB:1JM7|A 1 63 1e-30 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.1%
Validation Efficiency 96% (47/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,000,903 (GRCm39) T32S possibly damaging Het
2210408I21Rik A G 13: 77,341,306 (GRCm39) S52G possibly damaging Het
Aadacl4 G A 4: 144,349,303 (GRCm39) V187M probably damaging Het
Adprhl1 T A 8: 13,273,476 (GRCm39) Q1094L probably benign Het
Amigo1 C T 3: 108,095,452 (GRCm39) S317L probably benign Het
C1qtnf7 T A 5: 43,766,392 (GRCm39) probably null Het
Ccdc88c A T 12: 100,920,486 (GRCm39) D378E probably damaging Het
Ccdc97 G T 7: 25,414,384 (GRCm39) Y123* probably null Het
Cdk10 T A 8: 123,954,413 (GRCm39) M46K probably damaging Het
Dsc3 A G 18: 20,099,275 (GRCm39) probably null Het
Ephx3 T A 17: 32,407,177 (GRCm39) N254Y possibly damaging Het
Fnip2 G A 3: 79,388,428 (GRCm39) R768* probably null Het
Glra1 A T 11: 55,427,325 (GRCm39) Y3* probably null Het
Gltpd2 A G 11: 70,411,290 (GRCm39) T194A probably damaging Het
Hectd1 A T 12: 51,795,526 (GRCm39) L2301* probably null Het
Hmcn1 T A 1: 150,868,802 (GRCm39) M1L probably benign Het
Hmcn2 G A 2: 31,322,333 (GRCm39) E4133K probably benign Het
Hps3 A T 3: 20,065,699 (GRCm39) L714I probably damaging Het
Igfbpl1 A G 4: 45,816,333 (GRCm39) V164A possibly damaging Het
Ip6k2 T C 9: 108,674,510 (GRCm39) probably benign Het
Itgb8 A T 12: 119,154,366 (GRCm39) Y224N probably damaging Het
Kcnt2 T C 1: 140,440,646 (GRCm39) L624S probably benign Het
Mdga2 A G 12: 66,597,335 (GRCm39) Y720H probably damaging Het
Mier2 G A 10: 79,378,263 (GRCm39) H385Y possibly damaging Het
Msl2 T C 9: 100,978,042 (GRCm39) F139L probably benign Het
Nuggc T C 14: 65,846,305 (GRCm39) V72A probably benign Het
Or9k2b A T 10: 130,016,638 (GRCm39) V37E possibly damaging Het
Pde2a T A 7: 101,159,520 (GRCm39) Y783* probably null Het
Pfkfb2 A G 1: 130,628,533 (GRCm39) Y358H probably damaging Het
Pou2f1 A G 1: 165,759,258 (GRCm39) S23P probably damaging Het
Prrc2a T C 17: 35,378,477 (GRCm39) probably null Het
Prss36 T C 7: 127,544,410 (GRCm39) T92A probably benign Het
Rnft2 A G 5: 118,332,635 (GRCm39) probably benign Het
Sbno2 A G 10: 79,895,868 (GRCm39) V971A possibly damaging Het
Sec63 A G 10: 42,659,438 (GRCm39) E42G probably damaging Het
Setdb2 A T 14: 59,653,189 (GRCm39) L371Q probably damaging Het
Shprh A T 10: 11,042,437 (GRCm39) I807F probably damaging Het
Slc3a2 T C 19: 8,686,974 (GRCm39) probably null Het
Srbd1 T C 17: 86,406,718 (GRCm39) I556V possibly damaging Het
Stim2 T A 5: 54,275,641 (GRCm39) C605* probably null Het
Tecrl T C 5: 83,502,649 (GRCm39) T67A possibly damaging Het
Ttc33 C A 15: 5,241,523 (GRCm39) A116E probably damaging Het
Ttn G A 2: 76,772,393 (GRCm39) T2503I possibly damaging Het
Ubp1 T C 9: 113,801,831 (GRCm39) I468T probably damaging Het
Urgcp A T 11: 5,668,115 (GRCm39) H74Q probably benign Het
Vcan A G 13: 89,826,252 (GRCm39) I2224T probably damaging Het
Vmn1r8 T A 6: 57,013,400 (GRCm39) N150K probably damaging Het
Vmn2r3 A G 3: 64,166,668 (GRCm39) M821T probably damaging Het
Zfp777 C A 6: 48,001,625 (GRCm39) A866S 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
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
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'- CGGGCCTCCCAATAAATAAGTGC -3'
(R):5'- TGACGTCTCTGGTAGGACTG -3'

Sequencing Primer
(F):5'- GCCTCCCAATAAATAAGTGCAATAAG -3'
(R):5'- GTCGGAAAGCTACAATCC -3'
Posted On 2018-11-28