Incidental Mutation 'R9486:Brca1'
| ID |
716604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101414520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1205
(C1205S)
|
| 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: C1205S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: C1205S
| 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,546,942 (GRCm39) |
F396L |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,240,621 (GRCm39) |
I828T |
possibly damaging |
Het |
| Ace3 |
A |
T |
11: 105,896,219 (GRCm39) |
T722S |
probably benign |
Het |
| Acot2 |
A |
G |
12: 84,039,426 (GRCm39) |
T312A |
probably benign |
Het |
| Adra2a |
A |
G |
19: 54,035,963 (GRCm39) |
I440V |
probably damaging |
Het |
| Arhgap22 |
T |
A |
14: 33,073,303 (GRCm39) |
M4K |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
| Bcl2 |
T |
A |
1: 106,471,109 (GRCm39) |
Y199F |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,811,396 (GRCm39) |
V2743A |
unknown |
Het |
| Crybg1 |
A |
G |
10: 43,880,145 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,808 (GRCm39) |
H502L |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,796,050 (GRCm39) |
Y109* |
probably null |
Het |
| Cyp4a29 |
T |
C |
4: 115,106,916 (GRCm39) |
M191T |
probably damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,735,916 (GRCm39) |
R955G |
possibly damaging |
Het |
| Dcaf4 |
G |
T |
12: 83,582,726 (GRCm39) |
A274S |
probably damaging |
Het |
| Dlx1 |
A |
G |
2: 71,362,828 (GRCm39) |
H245R |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,508,494 (GRCm39) |
N1891D |
possibly damaging |
Het |
| Dock10 |
A |
T |
1: 80,479,452 (GRCm39) |
V2167D |
unknown |
Het |
| Epyc |
A |
G |
10: 97,511,697 (GRCm39) |
Q230R |
probably benign |
Het |
| Etnk1 |
G |
A |
6: 143,130,310 (GRCm39) |
R143H |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,826,479 (GRCm39) |
D203G |
probably benign |
Het |
| Fmo2 |
T |
C |
1: 162,708,292 (GRCm39) |
E281G |
probably damaging |
Het |
| Gm2042 |
T |
A |
12: 87,925,963 (GRCm39) |
Y304N |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,852,466 (GRCm39) |
D1551G |
probably damaging |
Het |
| Hgd |
A |
T |
16: 37,413,811 (GRCm39) |
D91V |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,797,891 (GRCm39) |
F276L |
probably benign |
Het |
| Ifitm10 |
C |
T |
7: 141,909,812 (GRCm39) |
V95M |
probably damaging |
Het |
| Ints3 |
G |
A |
3: 90,313,579 (GRCm39) |
R350* |
probably null |
Het |
| Kdm4c |
T |
A |
4: 74,252,966 (GRCm39) |
I511K |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,492,348 (GRCm39) |
S264P |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,624,899 (GRCm39) |
T365A |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,878,648 (GRCm39) |
T304S |
possibly damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,455,164 (GRCm39) |
Y962F |
probably benign |
Het |
| Map3k4 |
C |
T |
17: 12,489,860 (GRCm39) |
A524T |
probably damaging |
Het |
| Mfsd8 |
C |
T |
3: 40,789,627 (GRCm39) |
R140H |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,451,256 (GRCm39) |
I331V |
possibly damaging |
Het |
| Mpdz |
T |
A |
4: 81,254,043 (GRCm39) |
I1030F |
probably damaging |
Het |
| Mtx1 |
A |
T |
3: 89,120,163 (GRCm39) |
C62S |
|
Het |
| Muc20 |
A |
T |
16: 32,615,248 (GRCm39) |
V43E |
possibly damaging |
Het |
| Naa25 |
A |
G |
5: 121,577,958 (GRCm39) |
E955G |
probably damaging |
Het |
| Nelfcd |
A |
G |
2: 174,268,635 (GRCm39) |
Y562C |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,918,272 (GRCm39) |
T207A |
|
Het |
| Or1ad1 |
T |
A |
11: 50,875,691 (GRCm39) |
H54Q |
possibly damaging |
Het |
| Or4a39 |
C |
T |
2: 89,236,959 (GRCm39) |
V155M |
possibly damaging |
Het |
| Or4k5 |
T |
A |
14: 50,385,672 (GRCm39) |
I220L |
probably benign |
Het |
| Osbpl11 |
A |
T |
16: 33,006,283 (GRCm39) |
N37I |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,797,956 (GRCm39) |
S1032P |
possibly damaging |
Het |
| Pde6b |
T |
A |
5: 108,551,241 (GRCm39) |
I175N |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,824,184 (GRCm39) |
M735L |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,138,722 (GRCm39) |
V324A |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,155,494 (GRCm39) |
C462* |
probably null |
Het |
| Rasal3 |
T |
C |
17: 32,617,910 (GRCm39) |
N221S |
probably benign |
Het |
| Reep1 |
A |
T |
6: 71,684,969 (GRCm39) |
I6F |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,621 (GRCm39) |
F457L |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,777,965 (GRCm39) |
N2184S |
probably benign |
Het |
| Scn11a |
T |
G |
9: 119,624,774 (GRCm39) |
H516P |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,404,139 (GRCm39) |
|
probably null |
Het |
| Slc17a7 |
A |
G |
7: 44,821,606 (GRCm39) |
N381S |
possibly damaging |
Het |
| Slc38a3 |
C |
T |
9: 107,536,322 (GRCm39) |
V25M |
probably benign |
Het |
| Spag1 |
T |
G |
15: 36,181,954 (GRCm39) |
D37E |
probably damaging |
Het |
| Spib |
G |
T |
7: 44,178,815 (GRCm39) |
D114E |
possibly damaging |
Het |
| Tpx2 |
A |
T |
2: 152,726,933 (GRCm39) |
Y400F |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,532,014 (GRCm39) |
I362T |
possibly damaging |
Het |
| Usp17ld |
C |
T |
7: 102,899,381 (GRCm39) |
G517E |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,404 (GRCm39) |
M191K |
probably damaging |
Het |
| Wdr6 |
G |
A |
9: 108,453,182 (GRCm39) |
R234C |
probably damaging |
Het |
| Zdhhc22 |
C |
T |
12: 87,030,398 (GRCm39) |
M183I |
probably benign |
Het |
| Zfp1007 |
C |
A |
5: 109,824,062 (GRCm39) |
G463* |
probably null |
Het |
| Zfp949 |
C |
A |
9: 88,452,182 (GRCm39) |
T584N |
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 |
|
|
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 |
|
|
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'- CATTTGCAGTTGACCCTTGGG -3'
(R):5'- GCTGTCTTTAACGGAAGCATCC -3'
Sequencing Primer
(F):5'- TTGACCCTTGGGCAGCACTG -3'
(R):5'- TCTTTAACGGAAGCATCCTGAGAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation