Incidental Mutation 'R1694:Brca1'
ID 192044
Institutional Source Beutler Lab
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Name breast cancer 1, early onset
Synonyms
MMRRC Submission 039727-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1694 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101379590-101442781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101422925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 74 (E74G)
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: E121G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: E121G

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 damaging
Transcript: ENSMUST00000190862
AA Change: E74G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139599
Gene: ENSMUSG00000017146
AA Change: E74G

DomainStartEndE-ValueType
SCOP:d1jm7a_ 1 56 1e-6 SMART
PDB:1JM7|A 1 63 1e-30 PDB
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik T C 10: 120,614,533 (GRCm39) probably benign Het
4930447C04Rik C T 12: 72,931,992 (GRCm39) probably null Het
Abca16 A G 7: 120,119,307 (GRCm39) H1017R probably damaging Het
Actl11 A G 9: 107,807,207 (GRCm39) Y510C probably damaging Het
Agbl2 A G 2: 90,631,664 (GRCm39) T341A probably damaging Het
Agbl5 A G 5: 31,050,726 (GRCm39) Y458C probably damaging Het
Akap5 C T 12: 76,376,698 (GRCm39) S710L probably damaging Het
Akr1c21 A G 13: 4,625,177 (GRCm39) E36G probably damaging Het
Arhgap44 A G 11: 64,944,023 (GRCm39) S163P probably damaging Het
Armc1 A G 3: 19,189,050 (GRCm39) V205A possibly damaging Het
Asph A G 4: 9,610,869 (GRCm39) L102P probably damaging Het
Brms1l A G 12: 55,888,385 (GRCm39) R58G probably damaging Het
C1qbp G T 11: 70,869,073 (GRCm39) probably null Het
Calcrl A T 2: 84,169,631 (GRCm39) L350H probably damaging Het
Casr A T 16: 36,315,953 (GRCm39) F706I probably damaging Het
Ceacam10 T A 7: 24,480,491 (GRCm39) N87K probably benign Het
Cfap206 G T 4: 34,719,058 (GRCm39) T316K probably damaging Het
Col4a3 A T 1: 82,668,384 (GRCm39) probably null Het
Comtd1 A G 14: 21,897,398 (GRCm39) V183A probably damaging Het
Crygs A T 16: 22,625,425 (GRCm39) probably null Het
Dact1 C A 12: 71,359,551 (GRCm39) T139K probably damaging Het
Dlx6 T C 6: 6,867,173 (GRCm39) W259R probably damaging Het
Dnah9 G T 11: 65,845,650 (GRCm39) S627* probably null Het
Dnajc11 T A 4: 152,063,730 (GRCm39) V442D probably damaging Het
Dnajc21 A T 15: 10,451,649 (GRCm39) S393T probably benign Het
Dpysl3 C A 18: 43,461,439 (GRCm39) C584F possibly damaging Het
Efcab14 A G 4: 115,603,736 (GRCm39) K138R possibly damaging Het
Ephb3 A G 16: 21,040,495 (GRCm39) E577G probably damaging Het
Exoc3 C T 13: 74,338,184 (GRCm39) probably null Het
Fam171a1 A G 2: 3,226,660 (GRCm39) S473G probably benign Het
Fbxl2 A T 9: 113,832,239 (GRCm39) F58L probably damaging Het
Fmo6 T C 1: 162,750,241 (GRCm39) M272V probably benign Het
Gm10000 T C 12: 104,442,859 (GRCm39) probably benign Het
Grik1 T A 16: 87,746,956 (GRCm39) D442V probably damaging Het
Hectd1 A G 12: 51,791,375 (GRCm39) Y2588H probably damaging Het
Insrr A C 3: 87,711,369 (GRCm39) T430P probably benign Het
Lats1 T C 10: 7,577,709 (GRCm39) S278P probably benign Het
Lrch4 A G 5: 137,636,723 (GRCm39) T463A probably benign Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Lyst T G 13: 13,835,746 (GRCm39) F1809L probably damaging Het
Mad2l1bp A G 17: 46,463,770 (GRCm39) Y85H possibly damaging Het
Magoh G T 4: 107,740,362 (GRCm39) R82L probably benign Het
Mdfic2 A C 6: 98,215,100 (GRCm39) S174R probably damaging Het
Mlh1 A G 9: 111,057,543 (GRCm39) V756A probably damaging Het
Mlh3 T C 12: 85,313,915 (GRCm39) E757G probably damaging Het
Mycbp2 T C 14: 103,464,947 (GRCm39) T1339A probably damaging Het
Myh7b A T 2: 155,455,113 (GRCm39) E46V probably damaging Het
Naalad2 T A 9: 18,238,683 (GRCm39) R677S probably damaging Het
Nadsyn1 G A 7: 143,361,749 (GRCm39) T324I probably benign Het
Neo1 A T 9: 58,787,886 (GRCm39) L1389Q probably damaging Het
Nlrp1b A G 11: 71,107,681 (GRCm39) probably null Het
Nup210 A C 6: 91,039,785 (GRCm39) I690S probably benign Het
Or55b3 A T 7: 102,126,547 (GRCm39) S177T probably benign Het
Or5an11 T A 19: 12,246,281 (GRCm39) I229N probably damaging Het
Or9r7 T A 10: 129,962,123 (GRCm39) I268F possibly damaging Het
Otud7a C A 7: 63,383,458 (GRCm39) H316N probably damaging Het
Pcdh15 T C 10: 74,429,995 (GRCm39) S1241P probably damaging Het
Pclo A G 5: 14,570,977 (GRCm39) K121E probably damaging Het
Pcmtd1 A T 1: 7,217,872 (GRCm39) I107L probably benign Het
Pde6c A G 19: 38,168,673 (GRCm39) I755V probably damaging Het
Pes1 CGGAGGAGGAGGAGGAGGAGGAGG CGGAGGAGGAGGAGGAGGAGG 11: 3,927,719 (GRCm39) probably benign Het
Pi4ka A T 16: 17,113,240 (GRCm39) I1532N probably damaging Het
Pla2r1 A G 2: 60,271,428 (GRCm39) probably null Het
Plb1 A G 5: 32,474,621 (GRCm39) N661S probably null Het
Plekhd1 A G 12: 80,769,095 (GRCm39) K452E possibly damaging Het
Prr12 C A 7: 44,678,003 (GRCm39) V2003F unknown Het
Ptger1 G A 8: 84,395,107 (GRCm39) G195R probably benign Het
Ptpn4 T C 1: 119,711,240 (GRCm39) Q67R probably damaging Het
Rgsl1 C T 1: 153,680,422 (GRCm39) R760H probably damaging Het
Rock1 A G 18: 10,136,094 (GRCm39) probably null Het
Rtn1 T C 12: 72,270,298 (GRCm39) Y71C probably damaging Het
Rtp4 T C 16: 23,431,870 (GRCm39) *62Q probably null Het
Scaf4 GGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTG 16: 90,026,745 (GRCm39) probably benign Het
Scimp G T 11: 70,684,618 (GRCm39) P78H probably damaging Het
Scn8a C A 15: 100,853,409 (GRCm39) S132* probably null Het
Set A G 2: 29,959,436 (GRCm39) I124M probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sgce A G 6: 4,689,709 (GRCm39) S375P probably damaging Het
Slc4a1ap G C 5: 31,701,098 (GRCm39) E600Q probably damaging Het
Slit1 A G 19: 41,626,031 (GRCm39) V577A possibly damaging Het
Sqstm1 A G 11: 50,098,307 (GRCm39) V153A probably benign Het
Src A G 2: 157,311,675 (GRCm39) M468V possibly damaging Het
Srrm3 A G 5: 135,902,079 (GRCm39) probably benign Het
Stk11ip C T 1: 75,504,030 (GRCm39) R257W probably damaging Het
Tfrc T A 16: 32,433,443 (GRCm39) D32E probably damaging Het
Tor1aip2 A T 1: 155,941,031 (GRCm39) I446L probably benign Het
Trmt11 T C 10: 30,411,221 (GRCm39) H424R probably benign Het
Urb1 A G 16: 90,563,928 (GRCm39) Y1612H probably benign Het
Vcan A T 13: 89,836,602 (GRCm39) S2981T probably damaging Het
Vdac1 G C 11: 52,265,190 (GRCm39) G21A probably damaging Het
Vmn2r76 A G 7: 85,879,356 (GRCm39) S315P probably benign Het
Xpo1 A G 11: 23,231,399 (GRCm39) T328A probably benign Het
Xrcc5 C T 1: 72,358,255 (GRCm39) L197F possibly damaging Het
Zfhx2 G C 14: 55,311,401 (GRCm39) S431C possibly damaging Het
Zfp410 C T 12: 84,372,494 (GRCm39) P54S probably benign Het
Zfp560 C A 9: 20,259,282 (GRCm39) G527* probably null Het
Zfp775 A G 6: 48,596,389 (GRCm39) T88A possibly damaging Het
Zfp780b T A 7: 27,663,808 (GRCm39) H249L 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
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
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'- CACACCAGATCCCCTGACTTTCTGA -3'
(R):5'- ACGCCACCACCACTAGGCTTTT -3'

Sequencing Primer
(F):5'- ACTTATTAGAACACTTGTCCAGCC -3'
(R):5'- ACCACCACTAGGCTTTTTTTCC -3'
Posted On 2014-05-14