Incidental Mutation 'R8483:Brca1'
| ID |
657634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| MMRRC Submission |
067927-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101416802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 444
(D444G)
|
| 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: D444G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: D444G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
A |
G |
14: 44,239,285 (GRCm39) |
*148Q |
probably null |
Het |
| Ankrd28 |
A |
T |
14: 31,457,048 (GRCm39) |
|
probably null |
Het |
| Ark2c |
G |
A |
18: 77,556,034 (GRCm39) |
A174V |
probably benign |
Het |
| Aurkc |
T |
A |
7: 6,999,664 (GRCm39) |
L57* |
probably null |
Het |
| Cd200l1 |
T |
A |
16: 45,240,235 (GRCm39) |
I134F |
possibly damaging |
Het |
| Cdhr4 |
T |
C |
9: 107,872,198 (GRCm39) |
V204A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,822,412 (GRCm39) |
D835G |
possibly damaging |
Het |
| Cux1 |
C |
A |
5: 136,303,944 (GRCm39) |
A1328S |
possibly damaging |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,993,898 (GRCm39) |
D186G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,536,253 (GRCm39) |
I3677V |
probably benign |
Het |
| Dnmt3b |
A |
G |
2: 153,516,306 (GRCm39) |
D477G |
probably damaging |
Het |
| Drc1 |
A |
T |
5: 30,507,785 (GRCm39) |
Y269F |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,069,118 (GRCm39) |
H64R |
probably benign |
Het |
| Gcnt3 |
A |
T |
9: 69,941,959 (GRCm39) |
V203E |
probably damaging |
Het |
| Gpam |
A |
C |
19: 55,077,374 (GRCm39) |
V139G |
probably damaging |
Het |
| Gsta3 |
G |
A |
1: 21,333,063 (GRCm39) |
S104N |
probably damaging |
Het |
| Hsd17b13 |
C |
T |
5: 104,125,049 (GRCm39) |
G45R |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,808 (GRCm39) |
M173V |
|
Het |
| Ipo5 |
A |
G |
14: 121,183,560 (GRCm39) |
E1046G |
probably benign |
Het |
| Kank4 |
T |
A |
4: 98,659,615 (GRCm39) |
Q821L |
probably damaging |
Het |
| Kat6b |
G |
T |
14: 21,719,461 (GRCm39) |
S1271I |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,619,370 (GRCm39) |
S176P |
probably benign |
Het |
| Lbhd2 |
G |
A |
12: 111,378,190 (GRCm39) |
D86N |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Lrrc55 |
A |
T |
2: 85,022,295 (GRCm39) |
C299S |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,915 (GRCm39) |
Y76C |
probably benign |
Het |
| Nprl3 |
T |
A |
11: 32,213,083 (GRCm39) |
S44C |
probably damaging |
Het |
| Nucks1 |
A |
G |
1: 131,855,829 (GRCm39) |
H86R |
possibly damaging |
Het |
| Or14j3 |
A |
G |
17: 37,900,866 (GRCm39) |
V126A |
possibly damaging |
Het |
| Or4s2 |
A |
G |
2: 88,473,678 (GRCm39) |
D189G |
probably benign |
Het |
| Or6c219 |
T |
A |
10: 129,780,998 (GRCm39) |
H311L |
probably benign |
Het |
| Ovgp1 |
T |
A |
3: 105,894,311 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
G |
A |
14: 54,606,001 (GRCm39) |
|
probably null |
Het |
| Patj |
C |
A |
4: 98,312,539 (GRCm39) |
H292Q |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,636 (GRCm39) |
N235S |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,590 (GRCm39) |
T579S |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,118,803 (GRCm39) |
I647M |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,982 (GRCm39) |
R110G |
probably benign |
Het |
| Prb1a |
T |
G |
6: 132,185,398 (GRCm39) |
R78S |
unknown |
Het |
| Prmt8 |
A |
C |
6: 127,680,976 (GRCm39) |
|
probably null |
Het |
| Semp2l2a |
T |
A |
8: 13,888,229 (GRCm39) |
|
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,716,985 (GRCm39) |
Y249* |
probably null |
Het |
| Smok2b |
A |
C |
17: 13,453,908 (GRCm39) |
M23L |
probably benign |
Het |
| Sra1 |
A |
G |
18: 36,800,879 (GRCm39) |
I153T |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,660,017 (GRCm39) |
H16Q |
possibly damaging |
Het |
| Tent5c |
T |
A |
3: 100,379,784 (GRCm39) |
H324L |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,732,869 (GRCm39) |
S3073P |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,230,953 (GRCm39) |
I844T |
probably damaging |
Het |
| V1ra8 |
A |
T |
6: 90,179,916 (GRCm39) |
I40F |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,650,530 (GRCm39) |
M81K |
possibly damaging |
Het |
| Vps8 |
T |
C |
16: 21,393,763 (GRCm39) |
I1182T |
probably damaging |
Het |
| Wdr54 |
A |
G |
6: 83,130,591 (GRCm39) |
V181A |
probably benign |
Het |
| Zbed4 |
A |
G |
15: 88,665,990 (GRCm39) |
Y686C |
probably damaging |
Het |
| Zfyve28 |
T |
C |
5: 34,393,480 (GRCm39) |
N62S |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,424 (GRCm39) |
Y216C |
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 |
|
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 |
|
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'- GTCCTTTGAACACCTGCTGAATC -3'
(R):5'- AAATGTTAACTTCTGACAGCGC -3'
Sequencing Primer
(F):5'- CCTCAGGTTGAAGGGATGTAC -3'
(R):5'- AACTTCTGACAGCGCATCTGC -3'
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| Posted On |
2021-01-18 |
Incidental Mutation