Incidental Mutation 'R1973:Brca1'
ID 221282
Institutional Source Beutler Lab
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Name breast cancer 1, early onset
Synonyms
MMRRC Submission 039986-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1973 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101379590-101442781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101417229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 302 (C302S)
Ref Sequence ENSEMBL: ENSMUSP00000017290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000142086] [ENSMUST00000191198]
AlphaFold P48754
Predicted Effect probably benign
Transcript: ENSMUST00000017290
AA Change: C302S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: C302S

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A C 5: 8,862,746 (GRCm39) I143L probably benign Het
Acp7 T A 7: 28,307,414 (GRCm39) D481V probably damaging Het
AI597479 T A 1: 43,150,286 (GRCm39) I132K probably benign Het
Anxa13 T C 15: 58,228,030 (GRCm39) noncoding transcript Het
Brd8 T A 18: 34,741,066 (GRCm39) D420V probably damaging Het
Cacna1g A T 11: 94,350,603 (GRCm39) V414E possibly damaging Het
Ccdc142 T A 6: 83,079,544 (GRCm39) C294S probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chat C T 14: 32,146,148 (GRCm39) V342I probably benign Het
Chd6 A G 2: 160,808,307 (GRCm39) S1636P probably damaging Het
Clec4a1 A G 6: 122,901,793 (GRCm39) probably null Het
Col6a3 A T 1: 90,731,897 (GRCm39) I1452N probably damaging Het
Dennd2c T C 3: 103,039,014 (GRCm39) V54A probably benign Het
Dnah1 C T 14: 30,987,348 (GRCm39) W3550* probably null Het
Efl1 T C 7: 82,412,085 (GRCm39) S825P probably damaging Het
Entrep2 A T 7: 64,425,516 (GRCm39) I192N possibly damaging Het
Faxc G A 4: 21,993,405 (GRCm39) E350K probably benign Het
Frem2 T A 3: 53,559,653 (GRCm39) Y1618F probably benign Het
Fubp3 A G 2: 31,493,298 (GRCm39) T6A probably benign Het
Gm5814 A T 17: 47,721,474 (GRCm39) M63L probably benign Het
Gpr149 T C 3: 62,438,216 (GRCm39) K647R probably benign Het
Iqgap3 T A 3: 87,991,235 (GRCm39) probably null Het
Kcnh3 T C 15: 99,127,281 (GRCm39) V359A probably damaging Het
Kit G A 5: 75,776,102 (GRCm39) A295T probably damaging Het
Krt77 G T 15: 101,769,679 (GRCm39) A397E probably damaging Het
Mis18bp1 G C 12: 65,195,850 (GRCm39) S638* probably null Het
Neurl4 C T 11: 69,800,118 (GRCm39) P1091S probably benign Het
Nod2 A T 8: 89,379,501 (GRCm39) M8L probably damaging Het
Nos1 A G 5: 118,074,491 (GRCm39) T1046A possibly damaging Het
Nsfl1c G T 2: 151,347,334 (GRCm39) S202I probably damaging Het
Nuak2 A T 1: 132,258,340 (GRCm39) H257L probably damaging Het
Nwd1 T C 8: 73,431,590 (GRCm39) V1195A possibly damaging Het
Or10k2 T C 8: 84,268,421 (GRCm39) V216A probably benign Het
Or2ag12 T C 7: 106,277,426 (GRCm39) D89G probably benign Het
Or52a20 T A 7: 103,365,804 (GRCm39) M1K probably null Het
Or8b40 T A 9: 38,027,863 (GRCm39) M257K possibly damaging Het
Or8g51 A G 9: 38,609,164 (GRCm39) V170A probably damaging Het
Pclo G T 5: 14,726,073 (GRCm39) probably null Het
Pnpla7 A G 2: 24,906,629 (GRCm39) D664G probably damaging Het
Prl8a1 G A 13: 27,760,917 (GRCm39) T105I probably benign Het
Ptger1 C A 8: 84,396,083 (GRCm39) T380K probably benign Het
Ptk7 G A 17: 46,897,733 (GRCm39) Q282* probably null Het
Ptpn18 G T 1: 34,502,190 (GRCm39) D45Y probably damaging Het
Rab11fip3 T C 17: 26,243,365 (GRCm39) D589G probably damaging Het
Rara A G 11: 98,862,496 (GRCm39) N299S possibly damaging Het
Rpl13a T A 7: 44,775,419 (GRCm39) K368* probably null Het
Rslcan18 T C 13: 67,256,087 (GRCm39) probably benign Het
Rtel1 A G 2: 180,993,419 (GRCm39) Y731C probably benign Het
Sec16a A T 2: 26,316,501 (GRCm39) S1666R probably damaging Het
Sis A G 3: 72,828,337 (GRCm39) F1217S probably damaging Het
Slc10a7 T A 8: 79,423,962 (GRCm39) probably null Het
Slc22a7 A G 17: 46,748,016 (GRCm39) V214A probably damaging Het
Slc26a8 T C 17: 28,882,579 (GRCm39) I249V probably benign Het
Slc38a4 T C 15: 96,897,478 (GRCm39) K446E probably benign Het
Sned1 G A 1: 93,192,795 (GRCm39) G361S probably damaging Het
Spef2 T G 15: 9,663,152 (GRCm39) *876C probably null Het
Spink11 A G 18: 44,329,205 (GRCm39) C14R unknown Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tnfaip3 T C 10: 18,880,252 (GRCm39) N605S probably damaging Het
Trpc1 A G 9: 95,605,308 (GRCm39) M283T probably benign Het
Ttn A G 2: 76,544,706 (GRCm39) S32799P probably damaging Het
Ttn A G 2: 76,550,443 (GRCm39) I31613T probably damaging Het
Ugt1a10 A T 1: 87,983,769 (GRCm39) Y189F probably damaging Het
Usp32 G T 11: 84,994,757 (GRCm39) L52I probably benign Het
Usp33 A G 3: 152,065,923 (GRCm39) T68A possibly damaging Het
Vmn1r7 A G 6: 57,002,011 (GRCm39) F83S probably benign Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vps26c T C 16: 94,302,405 (GRCm39) N267S probably damaging Het
Wdr43 A G 17: 71,947,235 (GRCm39) N364D probably benign Het
Zdbf2 C A 1: 63,348,860 (GRCm39) P2413Q unknown 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
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'- TCTCAGGGCACAGACTTTGC -3'
(R):5'- GAGTTTTCTGAGGGCATAAGAAAC -3'

Sequencing Primer
(F):5'- CACAGACTTTGCGGGTGAGTC -3'
(R):5'- GCAGTGATGATTTAAACCCTACTGAG -3'
Posted On 2014-08-25