Incidental Mutation 'R1682:Brca1'
ID |
189265 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
039718-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1682 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101416391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 581
(I581T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000191198]
|
AlphaFold |
P48754 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017290
AA Change: I581T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: I581T
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,283,043 (GRCm39) |
D2203G |
probably benign |
Het |
Acin1 |
A |
G |
14: 54,901,175 (GRCm39) |
S629P |
probably damaging |
Het |
Agbl2 |
T |
A |
2: 90,614,434 (GRCm39) |
I22N |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,599,343 (GRCm39) |
E796G |
probably damaging |
Het |
Ankrd13d |
A |
G |
19: 4,332,961 (GRCm39) |
L13P |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,557,143 (GRCm39) |
S364P |
possibly damaging |
Het |
Ap2a1 |
T |
C |
7: 44,565,362 (GRCm39) |
T126A |
probably benign |
Het |
Apob |
A |
G |
12: 8,062,365 (GRCm39) |
I3616V |
probably benign |
Het |
Arl5a |
A |
T |
2: 52,306,214 (GRCm39) |
N39K |
probably benign |
Het |
Baiap2 |
G |
A |
11: 119,888,366 (GRCm39) |
R334H |
probably damaging |
Het |
Bbox1 |
T |
A |
2: 110,122,893 (GRCm39) |
N132I |
possibly damaging |
Het |
Bcl11b |
A |
G |
12: 107,882,908 (GRCm39) |
L469P |
probably damaging |
Het |
Cacng2 |
T |
C |
15: 78,002,997 (GRCm39) |
Y32C |
probably damaging |
Het |
Capn9 |
G |
T |
8: 125,338,304 (GRCm39) |
|
probably null |
Het |
Cdh18 |
A |
G |
15: 23,400,671 (GRCm39) |
T290A |
probably benign |
Het |
Cdk5rap2 |
C |
T |
4: 70,220,387 (GRCm39) |
V593I |
possibly damaging |
Het |
Cep128 |
G |
C |
12: 91,197,596 (GRCm39) |
D91E |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,245,217 (GRCm39) |
M1080V |
probably benign |
Het |
Coq8b |
T |
A |
7: 26,939,549 (GRCm39) |
M193K |
probably benign |
Het |
Csn1s2b |
A |
G |
5: 87,970,162 (GRCm39) |
Y131C |
probably damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,066,539 (GRCm39) |
S779P |
probably damaging |
Het |
Dgat1 |
C |
T |
15: 76,387,219 (GRCm39) |
C356Y |
probably benign |
Het |
Dipk1c |
A |
T |
18: 84,754,988 (GRCm39) |
I155F |
possibly damaging |
Het |
Dnah12 |
A |
T |
14: 26,500,840 (GRCm39) |
T1543S |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,851,040 (GRCm39) |
S821G |
probably damaging |
Het |
Dock4 |
G |
A |
12: 40,775,779 (GRCm39) |
C574Y |
probably damaging |
Het |
Dr1 |
T |
C |
5: 108,417,604 (GRCm39) |
I50T |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,778,780 (GRCm39) |
|
probably null |
Het |
Eln |
C |
A |
5: 134,732,636 (GRCm39) |
*861L |
probably null |
Het |
Eml6 |
T |
A |
11: 29,709,065 (GRCm39) |
H24L |
probably benign |
Het |
Eps8l3 |
A |
C |
3: 107,798,622 (GRCm39) |
T503P |
possibly damaging |
Het |
Fgf1 |
C |
A |
18: 38,974,985 (GRCm39) |
D155Y |
possibly damaging |
Het |
Fkbp15 |
A |
T |
4: 62,242,431 (GRCm39) |
M507K |
probably damaging |
Het |
Flnb |
A |
T |
14: 7,913,121 (GRCm38) |
R1463S |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,793,732 (GRCm39) |
T1018I |
probably benign |
Het |
Gm10803 |
T |
A |
2: 93,394,533 (GRCm39) |
C102S |
probably damaging |
Het |
Gpatch1 |
C |
A |
7: 35,002,812 (GRCm39) |
V233L |
possibly damaging |
Het |
Gramd1a |
T |
C |
7: 30,842,325 (GRCm39) |
|
probably null |
Het |
Gsk3a |
T |
C |
7: 24,935,133 (GRCm39) |
T106A |
possibly damaging |
Het |
Hap1 |
A |
G |
11: 100,240,302 (GRCm39) |
V136A |
possibly damaging |
Het |
Helq |
A |
T |
5: 100,940,679 (GRCm39) |
S307T |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,738,148 (GRCm39) |
S264T |
possibly damaging |
Het |
Htr4 |
A |
G |
18: 62,561,137 (GRCm39) |
M133V |
possibly damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Jakmip2 |
A |
G |
18: 43,714,896 (GRCm39) |
|
probably null |
Het |
Ldhd |
T |
A |
8: 112,354,745 (GRCm39) |
S358C |
possibly damaging |
Het |
Lrp1 |
A |
T |
10: 127,410,201 (GRCm39) |
V1515E |
probably damaging |
Het |
Ltbp3 |
A |
G |
19: 5,801,782 (GRCm39) |
D700G |
probably benign |
Het |
Magel2 |
T |
G |
7: 62,029,983 (GRCm39) |
S962R |
unknown |
Het |
Map2 |
A |
C |
1: 66,454,781 (GRCm39) |
|
probably null |
Het |
Map3k1 |
T |
A |
13: 111,893,684 (GRCm39) |
E704V |
probably damaging |
Het |
Mrpl39 |
A |
T |
16: 84,527,347 (GRCm39) |
V180D |
probably damaging |
Het |
Myef2 |
T |
C |
2: 124,939,978 (GRCm39) |
M383V |
probably damaging |
Het |
Myh3 |
A |
G |
11: 66,979,891 (GRCm39) |
Y610C |
probably damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,778 (GRCm39) |
L89P |
probably damaging |
Het |
Or51h1 |
T |
C |
7: 102,308,904 (GRCm39) |
V292A |
probably damaging |
Het |
Or8g54 |
T |
A |
9: 39,706,954 (GRCm39) |
Y94* |
probably null |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Pabpc1 |
T |
A |
15: 36,605,785 (GRCm39) |
N135I |
possibly damaging |
Het |
Pcsk6 |
T |
A |
7: 65,559,976 (GRCm39) |
H100Q |
probably damaging |
Het |
Pdss1 |
A |
G |
2: 22,805,531 (GRCm39) |
K270E |
probably damaging |
Het |
Pigx |
A |
T |
16: 31,906,268 (GRCm39) |
S18T |
possibly damaging |
Het |
Plbd2 |
T |
A |
5: 120,623,849 (GRCm39) |
T558S |
probably damaging |
Het |
Plppr1 |
A |
T |
4: 49,325,617 (GRCm39) |
|
probably null |
Het |
Plppr2 |
T |
A |
9: 21,855,717 (GRCm39) |
V230E |
possibly damaging |
Het |
Pola2 |
A |
G |
19: 6,003,091 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
A |
G |
9: 101,089,505 (GRCm39) |
S273P |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,494,853 (GRCm39) |
E741G |
probably benign |
Het |
Prom2 |
C |
A |
2: 127,382,082 (GRCm39) |
V111L |
possibly damaging |
Het |
Rapgef4 |
A |
G |
2: 72,056,912 (GRCm39) |
D557G |
possibly damaging |
Het |
Rgs10 |
T |
C |
7: 127,975,694 (GRCm39) |
T158A |
probably benign |
Het |
Rnf123 |
A |
C |
9: 107,954,597 (GRCm39) |
Y40D |
probably benign |
Het |
Rnf14 |
A |
G |
18: 38,441,242 (GRCm39) |
T211A |
probably benign |
Het |
Rp1l1 |
T |
A |
14: 64,266,417 (GRCm39) |
S668T |
probably damaging |
Het |
Sema6d |
T |
A |
2: 124,507,069 (GRCm39) |
L946Q |
probably benign |
Het |
Sgcd |
T |
G |
11: 47,085,869 (GRCm39) |
K94Q |
probably benign |
Het |
Skor2 |
A |
T |
18: 76,947,211 (GRCm39) |
D311V |
unknown |
Het |
Slc34a1 |
A |
T |
13: 23,996,623 (GRCm39) |
I43F |
probably damaging |
Het |
Spdye4c |
C |
A |
2: 128,434,542 (GRCm39) |
P40T |
probably damaging |
Het |
Srp72 |
C |
A |
5: 77,135,717 (GRCm39) |
Q216K |
possibly damaging |
Het |
Tmem62 |
C |
T |
2: 120,837,538 (GRCm39) |
T485I |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,681,056 (GRCm39) |
V432L |
probably damaging |
Het |
Trio |
T |
C |
15: 27,744,232 (GRCm39) |
|
probably null |
Het |
Uggt2 |
A |
T |
14: 119,292,055 (GRCm39) |
D581E |
probably benign |
Het |
Unc5d |
T |
A |
8: 29,249,109 (GRCm39) |
S319C |
probably damaging |
Het |
Vmn1r211 |
T |
C |
13: 23,035,813 (GRCm39) |
I285V |
probably damaging |
Het |
Vmn2r68 |
A |
G |
7: 84,882,574 (GRCm39) |
Y393H |
possibly damaging |
Het |
Vmn2r99 |
A |
C |
17: 19,598,207 (GRCm39) |
N77T |
probably 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 |
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 |
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'- TTCTCTTCTGGGAAAGCATCGCTG -3'
(R):5'- ACCTAATGGAGCCAAATGAGCAAGC -3'
Sequencing Primer
(F):5'- AAAGCATCGCTGGCACG -3'
(R):5'- GCAGTGAGTACTACCAGTAACTGTC -3'
|
Posted On |
2014-05-14 |