Incidental Mutation 'R4939:Brca1'
| ID |
382942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| MMRRC Submission |
042538-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4939 (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 101398876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1572
(V1572A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
|
| AlphaFold |
P48754 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017290
AA Change: V1572A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: V1572A
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,161,962 (GRCm39) |
Y365F |
possibly damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,049,288 (GRCm39) |
M585V |
probably benign |
Het |
| C1ql4 |
A |
T |
15: 98,985,521 (GRCm39) |
M30K |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,502 (GRCm39) |
|
probably null |
Het |
| Cdk6 |
A |
T |
5: 3,394,377 (GRCm39) |
D4V |
probably null |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Clic4 |
T |
C |
4: 134,950,852 (GRCm39) |
E113G |
probably benign |
Het |
| Creld1 |
C |
A |
6: 113,465,140 (GRCm39) |
H122Q |
probably benign |
Het |
| Cyp4a29 |
G |
A |
4: 115,104,873 (GRCm39) |
|
probably null |
Het |
| Dnaaf3 |
A |
T |
7: 4,530,144 (GRCm39) |
S246R |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,613,481 (GRCm39) |
T3925S |
probably damaging |
Het |
| Dnajc21 |
T |
A |
15: 10,449,683 (GRCm39) |
D446V |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,099,764 (GRCm39) |
Y629F |
probably damaging |
Het |
| Duxf4 |
T |
C |
10: 58,071,425 (GRCm39) |
N263S |
probably benign |
Het |
| E2f8 |
A |
T |
7: 48,521,886 (GRCm39) |
N405K |
probably benign |
Het |
| Flg |
A |
G |
3: 93,187,154 (GRCm39) |
N202S |
probably benign |
Het |
| Glyatl3 |
A |
G |
17: 41,220,914 (GRCm39) |
|
probably null |
Het |
| Gm38999 |
A |
G |
7: 43,077,885 (GRCm39) |
T63A |
possibly damaging |
Het |
| Grap |
A |
G |
11: 61,551,124 (GRCm39) |
Y52C |
probably damaging |
Het |
| Haus2 |
T |
A |
2: 120,449,517 (GRCm39) |
I187K |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,069,689 (GRCm39) |
E1686G |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,856,484 (GRCm39) |
D3944G |
probably damaging |
Het |
| Hexd |
A |
T |
11: 121,098,542 (GRCm39) |
M9L |
probably benign |
Het |
| Hoxa3 |
T |
C |
6: 52,147,656 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,235,342 (GRCm39) |
I126F |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,417,519 (GRCm39) |
C123* |
probably null |
Het |
| Jmjd1c |
T |
A |
10: 67,081,916 (GRCm39) |
N2346K |
possibly damaging |
Het |
| Kctd9 |
A |
G |
14: 67,967,135 (GRCm39) |
Y37C |
probably damaging |
Het |
| Kmt5b |
A |
C |
19: 3,865,245 (GRCm39) |
S747R |
possibly damaging |
Het |
| Krt26 |
T |
C |
11: 99,225,522 (GRCm39) |
M320V |
probably benign |
Het |
| Lama1 |
T |
G |
17: 68,044,470 (GRCm39) |
V123G |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,002,582 (GRCm39) |
D1103G |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,590,635 (GRCm39) |
K71I |
possibly damaging |
Het |
| Llgl1 |
A |
T |
11: 60,600,805 (GRCm39) |
|
probably null |
Het |
| Mcoln2 |
A |
T |
3: 145,897,996 (GRCm39) |
H39L |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,046,426 (GRCm39) |
D308G |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,057,371 (GRCm39) |
T315S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,975,165 (GRCm39) |
|
probably null |
Het |
| Nlrp9b |
G |
T |
7: 19,758,421 (GRCm39) |
V553F |
probably damaging |
Het |
| Nubpl |
A |
G |
12: 52,227,878 (GRCm39) |
N129S |
probably damaging |
Het |
| Nup214 |
C |
A |
2: 31,873,171 (GRCm39) |
T255K |
probably benign |
Het |
| Or10j3 |
T |
C |
1: 173,031,030 (GRCm39) |
Y36H |
possibly damaging |
Het |
| Or2t46 |
G |
T |
11: 58,472,037 (GRCm39) |
M122I |
probably damaging |
Het |
| Or2y17 |
A |
G |
11: 49,231,376 (GRCm39) |
T6A |
probably benign |
Het |
| Or4d1 |
G |
T |
11: 87,804,950 (GRCm39) |
P261T |
probably damaging |
Het |
| Or52z14 |
T |
C |
7: 103,253,458 (GRCm39) |
V199A |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,219 (GRCm39) |
N95K |
probably benign |
Het |
| Orc3 |
G |
A |
4: 34,593,126 (GRCm39) |
Q256* |
probably null |
Het |
| Pbrm1 |
A |
G |
14: 30,783,580 (GRCm39) |
M566V |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,569,363 (GRCm39) |
I357V |
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,704,484 (GRCm39) |
I484T |
possibly damaging |
Het |
| Plvap |
A |
G |
8: 71,964,083 (GRCm39) |
V93A |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,142,697 (GRCm39) |
Y1586C |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,255,817 (GRCm39) |
L196Q |
possibly damaging |
Het |
| Ptpn13 |
T |
G |
5: 103,665,335 (GRCm39) |
|
probably null |
Het |
| Ranbp17 |
T |
C |
11: 33,169,223 (GRCm39) |
N997S |
probably benign |
Het |
| Rpap2 |
G |
T |
5: 107,751,491 (GRCm39) |
|
probably null |
Het |
| Rrm1 |
T |
C |
7: 102,116,131 (GRCm39) |
V683A |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,460,021 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
A |
G |
19: 47,266,843 (GRCm39) |
Y277H |
probably damaging |
Het |
| Shank1 |
C |
T |
7: 43,975,586 (GRCm39) |
P477S |
unknown |
Het |
| Shtn1 |
T |
C |
19: 59,010,633 (GRCm39) |
E278G |
probably benign |
Het |
| Skap2 |
T |
A |
6: 51,899,303 (GRCm39) |
I109F |
possibly damaging |
Het |
| Slc28a3 |
A |
C |
13: 58,706,395 (GRCm39) |
I615M |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,526,788 (GRCm39) |
L780P |
probably damaging |
Het |
| Slc5a4b |
T |
C |
10: 75,917,301 (GRCm39) |
E245G |
probably benign |
Het |
| Slfn8 |
C |
T |
11: 82,894,111 (GRCm39) |
A843T |
probably benign |
Het |
| Sncaip |
A |
T |
18: 53,040,335 (GRCm39) |
Q843L |
possibly damaging |
Het |
| Spidr |
T |
A |
16: 15,958,610 (GRCm39) |
K51* |
probably null |
Het |
| Spopfm2 |
A |
T |
3: 94,083,540 (GRCm39) |
Y90* |
probably null |
Het |
| Tas2r123 |
T |
C |
6: 132,824,808 (GRCm39) |
V235A |
probably benign |
Het |
| Tgfbr3 |
T |
C |
5: 107,278,335 (GRCm39) |
D757G |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 127,873,139 (GRCm39) |
V490D |
probably damaging |
Het |
| Top2a |
T |
A |
11: 98,900,918 (GRCm39) |
H557L |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,254 (GRCm39) |
I328T |
probably benign |
Het |
| Trappc11 |
G |
A |
8: 47,972,700 (GRCm39) |
A291V |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,835 (GRCm39) |
Y432C |
probably damaging |
Het |
| Utp11 |
T |
G |
4: 124,577,043 (GRCm39) |
R109S |
possibly damaging |
Het |
| Vmn1r159 |
T |
G |
7: 22,542,316 (GRCm39) |
T239P |
probably damaging |
Het |
| Vwce |
A |
T |
19: 10,622,414 (GRCm39) |
N239Y |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,802,457 (GRCm39) |
|
probably null |
Het |
| Zfand6 |
A |
C |
7: 84,265,030 (GRCm39) |
*224G |
probably null |
Het |
| Zfp408 |
A |
T |
2: 91,475,450 (GRCm39) |
I668N |
probably damaging |
Het |
| Zfp647 |
TGCACG |
TGCACGCACG |
15: 76,795,244 (GRCm39) |
|
probably null |
Het |
| Zfp946 |
T |
C |
17: 22,674,418 (GRCm39) |
F391L |
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 |
|
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 |
|
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'- CCTACAGGTTATCCATTGCCACTAC -3'
(R):5'- GCCACTTAAGTTGAGTTTGTCTTCC -3'
Sequencing Primer
(F):5'- AGGTTATCCATTGCCACTACTTATAC -3'
(R):5'- TTGCAGAAGGAACCCCATACCTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation