Incidental Mutation 'R9616:Brca1'
ID 724604
Institutional Source Beutler Lab
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Name breast cancer 1, early onset
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9616 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101379590-101442781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101416683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 484 (E484K)
Ref Sequence ENSEMBL: ENSMUSP00000017290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000142086] [ENSMUST00000191198]
AlphaFold P48754
Predicted Effect probably damaging
Transcript: ENSMUST00000017290
AA Change: E484K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: E484K

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: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110040M04Rik T A 1: 151,080,480 (GRCm39) D189E probably benign Het
Abca13 A T 11: 9,240,501 (GRCm39) H788L probably benign Het
Abcb1b A G 5: 8,862,779 (GRCm39) I154V probably benign Het
Acsm4 A G 7: 119,293,872 (GRCm39) N81S probably benign Het
Adamts5 G A 16: 85,659,674 (GRCm39) H873Y probably benign Het
Aox4 C T 1: 58,268,020 (GRCm39) T200I possibly damaging Het
Arhgap33 A G 7: 30,229,367 (GRCm39) V336A probably damaging Het
Capn13 T A 17: 73,672,964 (GRCm39) D113V probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,892,078 (GRCm39) E274K Het
Cfh A T 1: 140,030,254 (GRCm39) I891K probably damaging Het
Cgn A G 3: 94,670,332 (GRCm39) S1041P probably damaging Het
Cldn18 T C 9: 99,580,915 (GRCm39) D111G probably benign Het
Cnp G A 11: 100,467,261 (GRCm39) R68Q probably benign Het
Cntn4 T A 6: 106,674,525 (GRCm39) C1008* probably null Het
Cntnap5a T C 1: 116,029,323 (GRCm39) I259T probably benign Het
Cubn A G 2: 13,319,529 (GRCm39) I2897T probably benign Het
Cyp2c39 T A 19: 39,501,648 (GRCm39) L67Q probably damaging Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddc C T 11: 11,772,288 (GRCm39) W349* probably null Het
Dennd3 A G 15: 73,440,563 (GRCm39) E1198G probably benign Het
Dnah1 T C 14: 31,026,400 (GRCm39) D826G probably null Het
Dpp4 T C 2: 62,217,429 (GRCm39) Y56C probably damaging Het
Etv6 A G 6: 134,243,295 (GRCm39) D350G possibly damaging Het
Fat1 C A 8: 45,406,075 (GRCm39) P942Q probably damaging Het
Fbxl5 A G 5: 43,916,159 (GRCm39) F418L probably benign Het
Fbxo11 T A 17: 88,316,098 (GRCm39) H368L Het
Fhl2 G T 1: 43,167,546 (GRCm39) H182Q probably damaging Het
Gabpa T A 16: 84,649,461 (GRCm39) C223S probably damaging Het
Gigyf2 T C 1: 87,356,326 (GRCm39) I803T unknown Het
Greb1 A T 12: 16,790,038 (GRCm39) N3K probably damaging Het
Hmcn1 T G 1: 150,684,473 (GRCm39) S366R probably benign Het
Il17b A G 18: 61,825,363 (GRCm39) Q133R probably benign Het
Inha T A 1: 75,486,211 (GRCm39) S169T probably benign Het
Itsn1 G A 16: 91,650,055 (GRCm39) R243H probably benign Het
Kcnu1 G GA 8: 26,403,675 (GRCm39) probably null Het
Kdm1b A G 13: 47,234,030 (GRCm39) E788G probably damaging Het
Kdm2a A T 19: 4,370,308 (GRCm39) I1059N probably damaging Het
Klk1b9 G T 7: 43,628,795 (GRCm39) G100C probably benign Het
Knl1 T C 2: 118,899,994 (GRCm39) V565A probably benign Het
Knl1 A T 2: 118,907,425 (GRCm39) N1650Y probably damaging Het
Lpp T C 16: 24,580,719 (GRCm39) V270A probably benign Het
Lrrc15 A G 16: 30,092,517 (GRCm39) L274P probably damaging Het
Mertk C T 2: 128,643,255 (GRCm39) L885F probably benign Het
Mpst T A 15: 78,294,361 (GRCm39) L31* probably null Het
Ms4a10 T C 19: 10,944,440 (GRCm39) T115A possibly damaging Het
Myof A G 19: 37,923,263 (GRCm39) I1330T possibly damaging Het
Ncam2 T C 16: 81,240,142 (GRCm39) I201T probably damaging Het
Nefh T A 11: 4,889,443 (GRCm39) K1059* probably null Het
Nek1 T C 8: 61,473,107 (GRCm39) Y168H probably damaging Het
Nek11 T A 9: 105,082,011 (GRCm39) T531S probably damaging Het
Nelfa G A 5: 34,059,127 (GRCm39) P243S possibly damaging Het
Niban1 T C 1: 151,512,193 (GRCm39) Y32H probably damaging Het
Notum G T 11: 120,550,974 (GRCm39) T64K Het
Or13c7d T A 4: 43,770,193 (GRCm39) K273* probably null Het
Or52b2 A C 7: 104,986,520 (GRCm39) Y134* probably null Het
Or9i16 A G 19: 13,864,861 (GRCm39) S238P probably damaging Het
Otof A G 5: 30,539,708 (GRCm39) I1035T possibly damaging Het
Otud3 A G 4: 138,624,925 (GRCm39) Y259H probably benign Het
Per1 G T 11: 68,993,554 (GRCm39) C368F probably damaging Het
Pitrm1 G T 13: 6,605,602 (GRCm39) R183L probably damaging Het
Prl3a1 C T 13: 27,459,118 (GRCm39) A119V Het
Pycard C T 7: 127,592,776 (GRCm39) G17E probably benign Het
Rnf13 A G 3: 57,740,430 (GRCm39) D249G possibly damaging Het
Sdhaf2 T C 19: 10,494,689 (GRCm39) Y33C probably damaging Het
Sdk2 A G 11: 113,691,061 (GRCm39) V1838A probably benign Het
Sgo2b C T 8: 64,380,274 (GRCm39) V853I probably benign Het
Slc1a4 T C 11: 20,282,403 (GRCm39) T24A probably benign Het
Slc8a1 T C 17: 81,955,407 (GRCm39) T544A probably benign Het
Sntg2 T C 12: 30,326,732 (GRCm39) N143S probably benign Het
Sphkap T C 1: 83,254,989 (GRCm39) E920G probably damaging Het
Srgap2 T A 1: 131,252,828 (GRCm39) H132L Het
Srgap3 A T 6: 112,748,524 (GRCm39) V376D probably damaging Het
Stxbp5l T C 16: 37,036,314 (GRCm39) K434E probably damaging Het
Tab2 A T 10: 7,795,005 (GRCm39) N492K possibly damaging Het
Tbc1d32 T C 10: 56,037,246 (GRCm39) Q666R possibly damaging Het
Tekt4 T C 17: 25,692,782 (GRCm39) probably null Het
Tnni3k G A 3: 154,667,724 (GRCm39) Q230* probably null Het
Trp53bp1 A C 2: 121,066,657 (GRCm39) S690A probably benign Het
Trpa1 C A 1: 14,989,077 (GRCm39) probably benign Het
Trpm1 T G 7: 63,858,132 (GRCm39) V324G probably damaging Het
Usp29 A G 7: 6,966,179 (GRCm39) E674G possibly damaging Het
Vmn2r59 T C 7: 41,661,299 (GRCm39) R839G probably damaging Het
Vmn2r6 A G 3: 64,445,724 (GRCm39) L667P probably damaging Het
Vmn2r91 T A 17: 18,356,305 (GRCm39) F657L possibly damaging Het
Vps13d A G 4: 144,824,701 (GRCm39) V2923A Het
Xylb T A 9: 119,201,022 (GRCm39) L220Q probably damaging Het
Zbtb10 C T 3: 9,316,473 (GRCm39) T95M probably benign Het
Zfp263 C T 16: 3,567,482 (GRCm39) P599L probably damaging Het
Zfp532 A G 18: 65,789,639 (GRCm39) E1026G probably benign Het
Zfp78 A G 7: 6,382,078 (GRCm39) N376S 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
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
Predicted Primers PCR Primer
(F):5'- TGGTAGTACTCACTGCTTGC -3'
(R):5'- GCACGAGTCAAATGCTGAAGC -3'

Sequencing Primer
(F):5'- GCTCATTTGGCTCCATTAGGTCAG -3'
(R):5'- GGGGTTTTAGTTCTTCAAGGAAAAC -3'
Posted On 2022-09-12