Incidental Mutation 'R1687:Brca1'
ID |
189443 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
039720-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1687 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101380666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 1789
(C1789Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
|
AlphaFold |
P48754 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017290
AA Change: C1789Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: C1789Y
Domain | Start | End | E-Value | Type |
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,184,714 (GRCm39) |
F931I |
probably benign |
Het |
Alox15 |
T |
A |
11: 70,240,744 (GRCm39) |
H212L |
probably benign |
Het |
Arhgap42 |
A |
T |
9: 9,035,538 (GRCm39) |
V268D |
probably benign |
Het |
Armc9 |
A |
G |
1: 86,084,677 (GRCm39) |
M1V |
probably null |
Het |
Cacng4 |
A |
G |
11: 107,627,585 (GRCm39) |
V138A |
probably benign |
Het |
Camsap1 |
A |
G |
2: 25,829,627 (GRCm39) |
F699S |
probably damaging |
Het |
Ccm2 |
A |
G |
11: 6,535,118 (GRCm39) |
R67G |
probably damaging |
Het |
Cdk16 |
G |
A |
X: 20,562,898 (GRCm39) |
|
probably null |
Het |
Cep85 |
T |
C |
4: 133,875,324 (GRCm39) |
H546R |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,768,502 (GRCm39) |
D207G |
probably damaging |
Het |
Cldn9 |
G |
T |
17: 23,902,050 (GRCm39) |
R192S |
probably benign |
Het |
Crybb3 |
A |
G |
5: 113,227,633 (GRCm39) |
S63P |
probably damaging |
Het |
Cux1 |
A |
G |
5: 136,341,523 (GRCm39) |
L615P |
probably damaging |
Het |
Dctn3 |
A |
G |
4: 41,715,407 (GRCm39) |
Y154H |
probably damaging |
Het |
Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,645,009 (GRCm39) |
|
probably null |
Het |
Eif1ad2 |
A |
G |
12: 87,786,488 (GRCm39) |
D133G |
unknown |
Het |
Eml6 |
G |
A |
11: 29,783,187 (GRCm39) |
H565Y |
probably damaging |
Het |
Ephb6 |
T |
C |
6: 41,594,300 (GRCm39) |
V610A |
probably benign |
Het |
Fam234a |
T |
C |
17: 26,434,282 (GRCm39) |
Y333C |
probably damaging |
Het |
Fbln1 |
G |
A |
15: 85,111,307 (GRCm39) |
V154I |
probably benign |
Het |
Frem2 |
A |
T |
3: 53,561,373 (GRCm39) |
W1045R |
probably benign |
Het |
Fubp1 |
A |
G |
3: 151,933,838 (GRCm39) |
|
probably benign |
Het |
Gja3 |
T |
A |
14: 57,274,333 (GRCm39) |
N13I |
probably damaging |
Het |
Gpr20 |
C |
A |
15: 73,567,751 (GRCm39) |
V213L |
probably benign |
Het |
Grk5 |
T |
C |
19: 61,065,221 (GRCm39) |
I295T |
probably damaging |
Het |
Gucy1b1 |
A |
G |
3: 81,945,349 (GRCm39) |
F430L |
probably damaging |
Het |
Gzmk |
T |
A |
13: 113,310,462 (GRCm39) |
I119L |
probably benign |
Het |
Hadh |
T |
C |
3: 131,038,898 (GRCm39) |
I153V |
probably benign |
Het |
Hsfy2 |
T |
C |
1: 56,676,012 (GRCm39) |
Y175C |
probably damaging |
Het |
Hspa5 |
T |
C |
2: 34,665,836 (GRCm39) |
I560T |
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,038,945 (GRCm39) |
V863A |
probably damaging |
Het |
Il22ra2 |
A |
G |
10: 19,508,620 (GRCm39) |
D216G |
probably benign |
Het |
Klc2 |
G |
A |
19: 5,161,682 (GRCm39) |
P303S |
probably damaging |
Het |
Lama5 |
C |
T |
2: 179,835,859 (GRCm39) |
V1192I |
probably benign |
Het |
Mon2 |
A |
G |
10: 122,862,029 (GRCm39) |
S772P |
probably damaging |
Het |
Mphosph8 |
T |
A |
14: 56,909,935 (GRCm39) |
L96Q |
probably damaging |
Het |
Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
Nckap1 |
A |
G |
2: 80,350,929 (GRCm39) |
I726T |
probably damaging |
Het |
Ndnf |
A |
T |
6: 65,680,407 (GRCm39) |
T229S |
probably benign |
Het |
Npas3 |
A |
T |
12: 54,095,658 (GRCm39) |
|
probably null |
Het |
Nrap |
C |
T |
19: 56,343,961 (GRCm39) |
E729K |
probably damaging |
Het |
Nsun2 |
T |
A |
13: 69,775,716 (GRCm39) |
F387I |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Pabpc1l |
C |
T |
2: 163,886,226 (GRCm39) |
T452M |
probably benign |
Het |
Pcdh10 |
T |
C |
3: 45,334,450 (GRCm39) |
Y255H |
probably damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,529,087 (GRCm39) |
Y72N |
probably damaging |
Het |
Pglyrp1 |
A |
T |
7: 18,618,629 (GRCm39) |
|
probably benign |
Het |
Pkp2 |
T |
C |
16: 16,086,573 (GRCm39) |
|
probably null |
Het |
Ppard |
A |
G |
17: 28,516,154 (GRCm39) |
Y126C |
probably damaging |
Het |
Prkcq |
T |
C |
2: 11,295,344 (GRCm39) |
Y598H |
probably damaging |
Het |
Rhobtb1 |
A |
G |
10: 69,106,109 (GRCm39) |
T287A |
probably damaging |
Het |
Sema4b |
T |
C |
7: 79,869,010 (GRCm39) |
Y361H |
probably damaging |
Het |
Slfn9 |
A |
T |
11: 82,872,983 (GRCm39) |
I640N |
probably damaging |
Het |
Smurf2 |
C |
A |
11: 106,726,896 (GRCm39) |
|
probably null |
Het |
Spag5 |
T |
C |
11: 78,195,755 (GRCm39) |
V354A |
probably benign |
Het |
Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
St6galnac5 |
C |
A |
3: 152,686,887 (GRCm39) |
L22F |
probably benign |
Het |
Sugp2 |
T |
C |
8: 70,695,284 (GRCm39) |
S86P |
probably damaging |
Het |
Tnk1 |
T |
C |
11: 69,747,299 (GRCm39) |
I111V |
possibly damaging |
Het |
Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
Trim36 |
G |
T |
18: 46,321,724 (GRCm39) |
H108N |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,701,251 (GRCm39) |
|
probably benign |
Het |
Usp28 |
T |
A |
9: 48,935,317 (GRCm39) |
S89R |
probably benign |
Het |
Vmn2r121 |
T |
C |
X: 123,042,488 (GRCm39) |
D223G |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,590,026 (GRCm39) |
Y630F |
probably benign |
Het |
Washc2 |
T |
A |
6: 116,233,673 (GRCm39) |
S900T |
probably benign |
Het |
Wdr72 |
A |
G |
9: 74,117,481 (GRCm39) |
N731S |
probably benign |
Het |
Xrra1 |
T |
A |
7: 99,525,451 (GRCm39) |
F123L |
probably damaging |
Het |
Zfp648 |
A |
G |
1: 154,079,988 (GRCm39) |
D49G |
probably benign |
Het |
|
Other mutations in Brca1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTCTCTCCAAGAACGATATGCAAC -3'
(R):5'- TCTGAGTACCTGCTTAGCCCTAAGAAC -3'
Sequencing Primer
(F):5'- GCAACAGATTAGCATCTTGCTC -3'
(R):5'- CTGCTTAGCCCTAAGAACTTATATAC -3'
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Posted On |
2014-05-14 |