Incidental Mutation 'R0613:Brca1'
ID |
54904 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
038802-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0613 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101399036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1519
(S1519T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
|
AlphaFold |
P48754 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017290
AA Change: S1519T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: S1519T
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 |
noncoding transcript
Transcript: ENSMUST00000156843
|
Meta Mutation Damage Score |
0.1320 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
Validation Efficiency |
100% (72/72) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acd |
A |
T |
8: 106,427,200 (GRCm39) |
|
probably null |
Het |
Adcy9 |
A |
G |
16: 4,237,403 (GRCm39) |
S3P |
probably damaging |
Het |
Adgrl4 |
T |
C |
3: 151,248,859 (GRCm39) |
|
probably benign |
Het |
Aff3 |
T |
C |
1: 38,249,004 (GRCm39) |
E700G |
probably benign |
Het |
Ahctf1 |
A |
G |
1: 179,596,979 (GRCm39) |
S56P |
probably damaging |
Het |
Atp12a |
T |
A |
14: 56,611,978 (GRCm39) |
I384N |
probably damaging |
Het |
Ccl25 |
T |
C |
8: 4,399,850 (GRCm39) |
V94A |
probably benign |
Het |
Cep170 |
T |
C |
1: 176,602,246 (GRCm39) |
T287A |
probably benign |
Het |
Ces1a |
A |
G |
8: 93,752,209 (GRCm39) |
S383P |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,906,228 (GRCm39) |
F793I |
probably damaging |
Het |
Ctsm |
T |
C |
13: 61,687,496 (GRCm39) |
R89G |
probably damaging |
Het |
Cyp2j12 |
T |
G |
4: 95,990,316 (GRCm39) |
T417P |
probably damaging |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Edn2 |
T |
A |
4: 120,019,061 (GRCm39) |
|
probably null |
Het |
Emc1 |
T |
A |
4: 139,102,383 (GRCm39) |
|
probably benign |
Het |
Entrep1 |
T |
A |
19: 23,963,853 (GRCm39) |
N239Y |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,848,347 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,824,139 (GRCm39) |
D6624V |
probably damaging |
Het |
Gpr107 |
A |
G |
2: 31,068,297 (GRCm39) |
Y253C |
probably damaging |
Het |
Gpr108 |
A |
G |
17: 57,545,174 (GRCm39) |
|
probably benign |
Het |
Grik1 |
A |
G |
16: 87,848,221 (GRCm39) |
|
probably null |
Het |
Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
Gucy2c |
A |
T |
6: 136,737,721 (GRCm39) |
N293K |
probably damaging |
Het |
Hps6 |
C |
A |
19: 45,992,260 (GRCm39) |
P66T |
probably benign |
Het |
Hspa9 |
A |
T |
18: 35,081,033 (GRCm39) |
V216E |
probably damaging |
Het |
Igsf8 |
T |
A |
1: 172,145,156 (GRCm39) |
M224K |
probably benign |
Het |
Igsf9b |
T |
C |
9: 27,238,216 (GRCm39) |
V569A |
probably damaging |
Het |
Itgb4 |
A |
T |
11: 115,884,168 (GRCm39) |
I952F |
probably damaging |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Khdrbs2 |
A |
G |
1: 32,696,603 (GRCm39) |
H344R |
possibly damaging |
Het |
Kmo |
C |
A |
1: 175,465,458 (GRCm39) |
R71S |
probably damaging |
Het |
Lrrc31 |
A |
G |
3: 30,739,184 (GRCm39) |
|
probably benign |
Het |
Map1b |
T |
A |
13: 99,578,149 (GRCm39) |
D168V |
probably damaging |
Het |
Mfsd6 |
T |
C |
1: 52,697,855 (GRCm39) |
|
probably benign |
Het |
Mgst1 |
G |
A |
6: 138,133,243 (GRCm39) |
G186D |
probably damaging |
Het |
Mrc1 |
C |
T |
2: 14,299,630 (GRCm39) |
A740V |
probably damaging |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Mtor |
T |
C |
4: 148,610,503 (GRCm39) |
Y1605H |
possibly damaging |
Het |
Ncoa4 |
T |
A |
14: 31,898,509 (GRCm39) |
L443Q |
probably damaging |
Het |
Nelfa |
G |
A |
5: 34,060,807 (GRCm39) |
|
probably benign |
Het |
Nepn |
T |
A |
10: 52,277,353 (GRCm39) |
L363Q |
probably damaging |
Het |
Nfat5 |
A |
G |
8: 108,092,927 (GRCm39) |
T630A |
possibly damaging |
Het |
Nipal4 |
A |
T |
11: 46,041,211 (GRCm39) |
V328E |
probably benign |
Het |
Or11h4b |
T |
A |
14: 50,918,861 (GRCm39) |
I77F |
probably benign |
Het |
Or2y1e |
T |
A |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
Or4c122 |
A |
T |
2: 89,079,469 (GRCm39) |
C178S |
probably damaging |
Het |
Or4d2b |
A |
T |
11: 87,780,053 (GRCm39) |
V223E |
possibly damaging |
Het |
Or6c76 |
T |
A |
10: 129,612,131 (GRCm39) |
M116K |
probably damaging |
Het |
Or8d2 |
T |
A |
9: 38,759,909 (GRCm39) |
C166* |
probably null |
Het |
Otogl |
A |
T |
10: 107,652,931 (GRCm39) |
N1140K |
probably damaging |
Het |
Ppip5k2 |
A |
C |
1: 97,680,465 (GRCm39) |
Y236* |
probably null |
Het |
Prelid1 |
C |
T |
13: 55,472,156 (GRCm39) |
R111* |
probably null |
Het |
Prpf8 |
T |
C |
11: 75,394,270 (GRCm39) |
L1771P |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,138,230 (GRCm39) |
Y378F |
possibly damaging |
Het |
Ptprb |
A |
G |
10: 116,138,283 (GRCm39) |
T396A |
possibly damaging |
Het |
Rab3il1 |
T |
C |
19: 10,005,728 (GRCm39) |
L174P |
probably damaging |
Het |
Rab4a |
T |
C |
8: 124,550,574 (GRCm39) |
V18A |
possibly damaging |
Het |
Scn3a |
T |
A |
2: 65,302,628 (GRCm39) |
M1273L |
possibly damaging |
Het |
Sdhc |
A |
T |
1: 170,957,413 (GRCm39) |
V156E |
probably benign |
Het |
Slco3a1 |
T |
C |
7: 73,996,382 (GRCm39) |
|
probably benign |
Het |
Syne3 |
T |
C |
12: 104,924,371 (GRCm39) |
T343A |
probably benign |
Het |
Syt11 |
A |
G |
3: 88,669,776 (GRCm39) |
C39R |
probably damaging |
Het |
Tll2 |
G |
T |
19: 41,093,429 (GRCm39) |
D462E |
probably damaging |
Het |
Tmem132e |
T |
A |
11: 82,329,164 (GRCm39) |
V481D |
probably damaging |
Het |
Tmem161b |
C |
T |
13: 84,399,439 (GRCm39) |
L17F |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,428,578 (GRCm39) |
I833F |
probably damaging |
Het |
Vstm2a |
A |
T |
11: 16,213,140 (GRCm39) |
N175I |
probably damaging |
Het |
Xpnpep1 |
G |
T |
19: 52,994,784 (GRCm39) |
D238E |
probably damaging |
Het |
Zfp112 |
G |
A |
7: 23,826,453 (GRCm39) |
G807D |
probably benign |
Het |
Zfp518b |
A |
T |
5: 38,830,946 (GRCm39) |
V353E |
probably damaging |
Het |
Zfp69 |
T |
C |
4: 120,791,544 (GRCm39) |
E39G |
probably benign |
Het |
Zfp865 |
A |
G |
7: 5,032,090 (GRCm39) |
H25R |
possibly damaging |
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 |
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'- TGCTTTATCAGCACCAGCAGCAG -3'
(R):5'- AGAGCCAACCCTTTACATATAATGCCG -3'
Sequencing Primer
(F):5'- GCAACTTGACCTTGGGGTAT -3'
(R):5'- ctcttaaccactgagccacc -3'
|
Posted On |
2013-07-11 |