Incidental Mutation 'R0595:Brca1'
ID |
55078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
038785-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0595 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101415713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 807
(V807A)
|
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: V807A
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: V807A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131460
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142086
|
SMART Domains |
Protein: ENSMUSP00000139813 Gene: ENSMUSG00000017146
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:EIN3
|
1 |
146 |
3.5e-18 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
A |
5: 8,790,417 (GRCm39) |
D1093E |
probably damaging |
Het |
Aldh2 |
G |
T |
5: 121,711,563 (GRCm39) |
A276D |
probably damaging |
Het |
Aldh2 |
C |
T |
5: 121,711,564 (GRCm39) |
A276T |
probably damaging |
Het |
Aldh7a1 |
C |
T |
18: 56,679,965 (GRCm39) |
|
probably benign |
Het |
Ano1 |
C |
T |
7: 144,143,890 (GRCm39) |
R964H |
possibly damaging |
Het |
Apob |
G |
A |
12: 8,058,369 (GRCm39) |
V2251I |
probably benign |
Het |
Atp6v1e1 |
A |
G |
6: 120,778,091 (GRCm39) |
V148A |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,408,111 (GRCm39) |
H73Q |
probably benign |
Het |
Cacna1b |
C |
T |
2: 24,540,001 (GRCm39) |
|
probably benign |
Het |
Cadps2 |
A |
T |
6: 23,321,703 (GRCm39) |
|
probably null |
Het |
Cep152 |
T |
C |
2: 125,436,983 (GRCm39) |
Q519R |
probably damaging |
Het |
Cep295 |
A |
C |
9: 15,243,487 (GRCm39) |
Y1608* |
probably null |
Het |
Cfap54 |
T |
C |
10: 92,720,598 (GRCm39) |
I2619V |
unknown |
Het |
Dnajb9 |
A |
G |
12: 44,255,067 (GRCm39) |
V7A |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,851,408 (GRCm39) |
K1358R |
unknown |
Het |
Fbxw7 |
C |
A |
3: 84,884,674 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
C |
2: 82,777,296 (GRCm39) |
Y108H |
probably damaging |
Het |
Ggt6 |
T |
A |
11: 72,328,493 (GRCm39) |
L331Q |
probably damaging |
Het |
Ifitm1 |
T |
A |
7: 140,548,242 (GRCm39) |
I25N |
possibly damaging |
Het |
Krt75 |
C |
T |
15: 101,476,789 (GRCm39) |
E367K |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,206,950 (GRCm39) |
Y487C |
probably damaging |
Het |
Map3k6 |
G |
T |
4: 132,968,574 (GRCm39) |
G59W |
probably damaging |
Het |
Mme |
A |
G |
3: 63,235,602 (GRCm39) |
T129A |
probably benign |
Het |
Mmp10 |
G |
A |
9: 7,508,199 (GRCm39) |
E442K |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,235,672 (GRCm39) |
S646P |
probably benign |
Het |
Nbea |
A |
T |
3: 55,535,917 (GRCm39) |
I2889N |
probably benign |
Het |
Nlrp4d |
T |
A |
7: 10,114,972 (GRCm39) |
K581N |
probably benign |
Het |
Nr3c2 |
C |
T |
8: 77,636,233 (GRCm39) |
P445S |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,810,868 (GRCm39) |
N289K |
probably damaging |
Het |
Pck1 |
T |
A |
2: 172,998,822 (GRCm39) |
V360E |
probably damaging |
Het |
Plekha7 |
T |
C |
7: 115,744,203 (GRCm39) |
D766G |
probably damaging |
Het |
Prag1 |
A |
G |
8: 36,614,156 (GRCm39) |
N1236S |
probably damaging |
Het |
Prkdc |
A |
C |
16: 15,625,952 (GRCm39) |
Q3326P |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,073,189 (GRCm39) |
M57T |
probably damaging |
Het |
Rb1 |
A |
T |
14: 73,511,120 (GRCm39) |
F330I |
probably damaging |
Het |
Rufy4 |
A |
G |
1: 74,180,089 (GRCm39) |
E448G |
possibly damaging |
Het |
Scn10a |
T |
A |
9: 119,495,129 (GRCm39) |
M371L |
probably benign |
Het |
Sgta |
T |
C |
10: 80,884,742 (GRCm39) |
D189G |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,864,091 (GRCm39) |
H413R |
probably benign |
Het |
Stau2 |
T |
C |
1: 16,510,674 (GRCm39) |
T95A |
probably damaging |
Het |
Supt4a |
C |
T |
11: 87,633,982 (GRCm39) |
|
probably null |
Het |
Tanc2 |
A |
G |
11: 105,605,003 (GRCm39) |
|
probably null |
Het |
Tap2 |
T |
A |
17: 34,431,328 (GRCm39) |
V422D |
probably damaging |
Het |
Tas2r138 |
A |
G |
6: 40,589,799 (GRCm39) |
L149P |
probably damaging |
Het |
Tex15 |
T |
C |
8: 34,062,645 (GRCm39) |
S692P |
probably damaging |
Het |
Tgm2 |
C |
T |
2: 157,984,962 (GRCm39) |
R48H |
probably damaging |
Het |
Ticrr |
T |
A |
7: 79,345,311 (GRCm39) |
F1725L |
possibly damaging |
Het |
Tnpo2 |
T |
A |
8: 85,778,670 (GRCm39) |
C672* |
probably null |
Het |
Xkr9 |
A |
G |
1: 13,771,008 (GRCm39) |
I175V |
probably benign |
Het |
Zfp428 |
T |
A |
7: 24,214,803 (GRCm39) |
S140T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGTGAGCACAGTCCTTTTGGGG -3'
(R):5'- ACGCCAAATGTCTGACAGTGCC -3'
Sequencing Primer
(F):5'- CCTTTTGGGGACTTCTAGGTTTTG -3'
(R):5'- TGTCTGACAGTGCCAAAGAAC -3'
|
Posted On |
2013-07-11 |