Incidental Mutation 'R1484:Brca1'
ID |
163336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
039537-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1484 (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 101420638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 190
(V190E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000190862]
[ENSMUST00000191198]
|
AlphaFold |
P48754 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017290
AA Change: V190E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: V190E
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 |
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: ENSMUST00000190862
|
SMART Domains |
Protein: ENSMUSP00000139599 Gene: ENSMUSG00000017146
Domain | Start | End | E-Value | Type |
SCOP:d1jm7a_
|
1 |
56 |
1e-6 |
SMART |
PDB:1JM7|A
|
1 |
63 |
1e-30 |
PDB |
|
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
97% (85/88) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930584F24Rik |
A |
T |
5: 26,684,776 (GRCm39) |
|
noncoding transcript |
Het |
Acvr1 |
A |
T |
2: 58,369,901 (GRCm39) |
V36E |
probably damaging |
Het |
Aldh4a1 |
A |
G |
4: 139,370,758 (GRCm39) |
I414V |
probably benign |
Het |
Alox5 |
C |
T |
6: 116,431,128 (GRCm39) |
C100Y |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,216,068 (GRCm39) |
D348E |
probably damaging |
Het |
Arhgap30 |
G |
A |
1: 171,230,839 (GRCm39) |
V199M |
probably damaging |
Het |
Arl13b |
T |
A |
16: 62,626,999 (GRCm39) |
Q234L |
probably benign |
Het |
Atxn1 |
C |
A |
13: 45,711,052 (GRCm39) |
E627* |
probably null |
Het |
Bend3 |
T |
C |
10: 43,386,197 (GRCm39) |
F197L |
probably benign |
Het |
Brpf1 |
T |
C |
6: 113,292,096 (GRCm39) |
W381R |
probably damaging |
Het |
Brwd1 |
A |
C |
16: 95,829,491 (GRCm39) |
|
probably null |
Het |
C1s2 |
T |
C |
6: 124,602,604 (GRCm39) |
I530V |
possibly damaging |
Het |
C2cd3 |
C |
T |
7: 100,089,397 (GRCm39) |
R1638W |
probably damaging |
Het |
Capns1 |
T |
A |
7: 29,893,511 (GRCm39) |
|
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cep126 |
G |
A |
9: 8,100,554 (GRCm39) |
T660I |
possibly damaging |
Het |
Cep295 |
A |
C |
9: 15,246,080 (GRCm39) |
I744R |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,250,725 (GRCm39) |
E668G |
probably benign |
Het |
Chek2 |
A |
G |
5: 110,996,553 (GRCm39) |
T172A |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,890,501 (GRCm39) |
|
probably null |
Het |
Coq3 |
G |
A |
4: 21,900,291 (GRCm39) |
V173I |
probably benign |
Het |
Cyp4x1 |
A |
T |
4: 114,970,098 (GRCm39) |
I343N |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,176,703 (GRCm39) |
D774E |
probably benign |
Het |
Dnai3 |
T |
C |
3: 145,802,996 (GRCm39) |
D65G |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Esrra |
T |
C |
19: 6,890,197 (GRCm39) |
Y209C |
probably damaging |
Het |
Gpr149 |
A |
T |
3: 62,502,592 (GRCm39) |
D421E |
probably benign |
Het |
Gpr15 |
T |
C |
16: 58,538,937 (GRCm39) |
N51D |
probably damaging |
Het |
Gpr156 |
T |
C |
16: 37,812,558 (GRCm39) |
V298A |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,236,507 (GRCm39) |
G350D |
probably damaging |
Het |
Ifih1 |
A |
T |
2: 62,440,902 (GRCm39) |
N421K |
probably benign |
Het |
Ilvbl |
C |
A |
10: 78,412,564 (GRCm39) |
T95K |
probably damaging |
Het |
Itgb4 |
T |
A |
11: 115,890,625 (GRCm39) |
D1104E |
probably benign |
Het |
Katnip |
C |
A |
7: 125,415,743 (GRCm39) |
|
probably benign |
Het |
Lipf |
A |
T |
19: 33,942,180 (GRCm39) |
M37L |
probably benign |
Het |
Lyst |
T |
A |
13: 13,852,775 (GRCm39) |
N2258K |
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,099,758 (GRCm39) |
Y86C |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,367,629 (GRCm39) |
|
probably null |
Het |
Myo16 |
G |
A |
8: 10,610,145 (GRCm39) |
R1162H |
probably damaging |
Het |
Myo5c |
A |
T |
9: 75,208,092 (GRCm39) |
N1609Y |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,240,098 (GRCm39) |
F155L |
probably damaging |
Het |
Nek4 |
A |
T |
14: 30,704,290 (GRCm39) |
M602L |
possibly damaging |
Het |
Nek9 |
A |
G |
12: 85,348,622 (GRCm39) |
S971P |
probably damaging |
Het |
Nfya |
A |
T |
17: 48,700,570 (GRCm39) |
|
probably benign |
Het |
Nrxn3 |
A |
T |
12: 89,221,547 (GRCm39) |
N442I |
probably damaging |
Het |
Nup42 |
A |
C |
5: 24,383,075 (GRCm39) |
K200N |
probably benign |
Het |
Or1e26 |
T |
A |
11: 73,480,187 (GRCm39) |
I126L |
possibly damaging |
Het |
Or4c111 |
G |
A |
2: 88,843,713 (GRCm39) |
R232* |
probably null |
Het |
Or7g32 |
G |
A |
9: 19,389,423 (GRCm39) |
T38I |
probably damaging |
Het |
Pcdh15 |
T |
A |
10: 74,126,833 (GRCm39) |
I304N |
probably damaging |
Het |
Pigo |
G |
C |
4: 43,024,779 (GRCm39) |
P107A |
probably damaging |
Het |
Plce1 |
C |
T |
19: 38,693,783 (GRCm39) |
Q769* |
probably null |
Het |
Plin2 |
C |
T |
4: 86,575,481 (GRCm39) |
R356H |
probably benign |
Het |
Ppp1r9a |
G |
T |
6: 5,113,712 (GRCm39) |
E739* |
probably null |
Het |
Ppp3cc |
G |
T |
14: 70,478,397 (GRCm39) |
N268K |
probably damaging |
Het |
Prkag3 |
T |
A |
1: 74,779,919 (GRCm39) |
D472V |
probably damaging |
Het |
Ptch2 |
A |
T |
4: 116,968,046 (GRCm39) |
D846V |
probably damaging |
Het |
Rhob |
A |
T |
12: 8,549,388 (GRCm39) |
M82K |
probably damaging |
Het |
Rps6kc1 |
T |
A |
1: 190,531,672 (GRCm39) |
R777W |
possibly damaging |
Het |
Sap130 |
T |
A |
18: 31,844,380 (GRCm39) |
V850E |
probably damaging |
Het |
Sema3a |
T |
G |
5: 13,523,407 (GRCm39) |
N125K |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,460,431 (GRCm39) |
D64G |
probably damaging |
Het |
Sgo2b |
T |
A |
8: 64,384,507 (GRCm39) |
D163V |
possibly damaging |
Het |
Slc15a1 |
A |
T |
14: 121,728,651 (GRCm39) |
Y31* |
probably null |
Het |
Smchd1 |
A |
T |
17: 71,685,252 (GRCm39) |
M1392K |
probably benign |
Het |
Sobp |
T |
A |
10: 43,036,827 (GRCm39) |
N37I |
probably damaging |
Het |
Spock3 |
G |
T |
8: 63,673,739 (GRCm39) |
C142F |
probably damaging |
Het |
Stx6 |
A |
C |
1: 155,053,650 (GRCm39) |
S86R |
probably benign |
Het |
Sult2a4 |
C |
A |
7: 13,643,726 (GRCm39) |
M280I |
probably benign |
Het |
Synm |
A |
T |
7: 67,386,080 (GRCm39) |
D527E |
probably damaging |
Het |
Tax1bp1 |
C |
T |
6: 52,710,305 (GRCm39) |
R195W |
probably damaging |
Het |
Themis2 |
A |
T |
4: 132,519,796 (GRCm39) |
N76K |
possibly damaging |
Het |
Tmem8b |
A |
G |
4: 43,690,234 (GRCm39) |
T890A |
probably benign |
Het |
Traf7 |
T |
A |
17: 24,730,785 (GRCm39) |
H366L |
possibly damaging |
Het |
Trim30c |
A |
T |
7: 104,032,459 (GRCm39) |
V289D |
probably benign |
Het |
Tsr1 |
T |
A |
11: 74,792,914 (GRCm39) |
D407E |
probably damaging |
Het |
Ubap2 |
G |
T |
4: 41,235,593 (GRCm39) |
A33E |
probably damaging |
Het |
Unc13d |
C |
A |
11: 115,964,701 (GRCm39) |
R255L |
possibly damaging |
Het |
Ush2a |
G |
T |
1: 188,542,534 (GRCm39) |
G3367* |
probably null |
Het |
Vmn1r229 |
T |
C |
17: 21,034,791 (GRCm39) |
L12P |
probably damaging |
Het |
Vmn2r27 |
C |
A |
6: 124,177,474 (GRCm39) |
G510V |
probably damaging |
Het |
Vps4b |
T |
C |
1: 106,707,712 (GRCm39) |
E257G |
probably damaging |
Het |
Vps72 |
T |
C |
3: 95,026,462 (GRCm39) |
S136P |
probably damaging |
Het |
Wdr36 |
T |
C |
18: 32,976,938 (GRCm39) |
I181T |
possibly damaging |
Het |
Wfikkn1 |
C |
T |
17: 26,096,765 (GRCm39) |
A520T |
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 |
|
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'- TCAGAGAACAACGATCTGGCAGAAAC -3'
(R):5'- GCCTGTGCTTTCGGCCACT -3'
Sequencing Primer
(F):5'- agagatggctcagtggttaag -3'
(R):5'- ATGTGTCTGTACCTGCTACATAG -3'
|
Posted On |
2014-03-28 |