Incidental Mutation 'IGL01744:Brca1'
ID 152979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brca1
Ensembl Gene ENSMUSG00000017146
Gene Name breast cancer 1, early onset
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01744
Quality Score
Status
Chromosome 11
Chromosomal Location 101379590-101442781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101415002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1044 (N1044S)
Ref Sequence ENSEMBL: ENSMUSP00000017290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000142086] [ENSMUST00000191198]
AlphaFold P48754
Predicted Effect possibly damaging
Transcript: ENSMUST00000017290
AA Change: N1044S

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: N1044S

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
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T C 7: 12,284,459 (GRCm39) I102T possibly damaging Het
4933412E24Rik C A 15: 59,887,424 (GRCm39) A339S possibly damaging Het
Ackr2 A G 9: 121,738,185 (GRCm39) T187A probably benign Het
Adam28 A G 14: 68,844,956 (GRCm39) V777A probably benign Het
Add3 T A 19: 53,227,861 (GRCm39) D515E probably damaging Het
Aire C A 10: 77,872,557 (GRCm39) E354* probably null Het
AW551984 T C 9: 39,502,568 (GRCm39) K670R probably benign Het
Bahcc1 T C 11: 120,162,563 (GRCm39) V287A probably benign Het
Bub1b T A 2: 118,467,230 (GRCm39) I851N probably damaging Het
Ceacam11 A T 7: 17,707,323 (GRCm39) I36F possibly damaging Het
Copa A G 1: 171,940,756 (GRCm39) E714G probably benign Het
Cth A T 3: 157,630,572 (GRCm39) N32K probably benign Het
Cyp2a5 T A 7: 26,540,434 (GRCm39) M349K probably damaging Het
D130052B06Rik A G 11: 33,573,966 (GRCm39) S188G unknown Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Flt1 T C 5: 147,508,271 (GRCm39) N1161S probably benign Het
Hip1 T C 5: 135,573,917 (GRCm39) probably benign Het
Mapk11 A G 15: 89,031,046 (GRCm39) probably benign Het
Mtif2 A G 11: 29,494,417 (GRCm39) probably benign Het
Myo1f C A 17: 33,802,654 (GRCm39) probably benign Het
Nipsnap1 G A 11: 4,839,912 (GRCm39) R211H probably damaging Het
Or52ab4 A G 7: 102,987,435 (GRCm39) H58R probably damaging Het
Or6c35 T C 10: 129,169,326 (GRCm39) I192T probably benign Het
Pcdh1 A T 18: 38,336,302 (GRCm39) I111N probably damaging Het
Piezo2 T A 18: 63,175,859 (GRCm39) I1841F probably damaging Het
Pirb G T 7: 3,720,175 (GRCm39) Y399* probably null Het
Ppp1r36 A T 12: 76,486,006 (GRCm39) N388I possibly damaging Het
Prr16 A G 18: 51,436,061 (GRCm39) D180G possibly damaging Het
Prss39 A G 1: 34,541,280 (GRCm39) probably null Het
Spopfm2 T A 3: 94,083,544 (GRCm39) K89M probably damaging Het
Trank1 T A 9: 111,178,431 (GRCm39) V373D probably damaging Het
Ubn1 A G 16: 4,889,923 (GRCm39) E186G probably damaging Het
Zmym2 T C 14: 57,184,029 (GRCm39) V997A 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
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
R9616:Brca1 UTSW 11 101,416,683 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04