Incidental Mutation 'R0940:Brca1'
| ID |
81440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| MMRRC Submission |
039079-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0940 (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 101422969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 106
(S106R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000190862]
|
| AlphaFold |
P48754 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017290
AA Change: S106R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: S106R
| 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 |
possibly damaging
Transcript: ENSMUST00000190862
AA Change: S59R
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139599
Gene: ENSMUSG00000017146
AA Change: S59R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jm7a_
|
1 |
56 |
1e-6 |
SMART |
|
PDB:1JM7|A
|
1 |
63 |
1e-30 |
PDB |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
100% (68/68) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
| 2610021A01Rik |
T |
G |
7: 41,275,858 (GRCm39) |
I520M |
probably damaging |
Het |
| Ackr4 |
A |
G |
9: 103,976,831 (GRCm39) |
F39L |
probably damaging |
Het |
| Adgre5 |
C |
T |
8: 84,460,126 (GRCm39) |
S92N |
probably damaging |
Het |
| Adrb2 |
T |
C |
18: 62,312,762 (GRCm39) |
D21G |
probably benign |
Het |
| Akr1c6 |
G |
A |
13: 4,486,372 (GRCm39) |
E60K |
probably benign |
Het |
| Bcl7c |
T |
A |
7: 127,306,503 (GRCm39) |
N96I |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,764,717 (GRCm39) |
T138S |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,300,564 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,022,217 (GRCm39) |
M3939K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,681,626 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
T |
G |
18: 20,183,116 (GRCm39) |
T101P |
probably damaging |
Het |
| Dynlt1b |
T |
C |
17: 6,697,649 (GRCm39) |
|
probably benign |
Het |
| E330013P04Rik |
A |
G |
19: 60,150,354 (GRCm39) |
|
noncoding transcript |
Het |
| Fggy |
A |
G |
4: 95,585,238 (GRCm39) |
E39G |
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,572,797 (GRCm39) |
V952A |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,753,795 (GRCm39) |
C116S |
probably benign |
Het |
| Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
| Gmps |
A |
G |
3: 63,883,743 (GRCm39) |
|
probably benign |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Hnrnpm |
G |
A |
17: 33,868,976 (GRCm39) |
R523C |
probably damaging |
Het |
| Inpp5a |
T |
C |
7: 139,105,654 (GRCm39) |
Y202H |
probably damaging |
Het |
| Kank3 |
C |
T |
17: 34,036,450 (GRCm39) |
S106F |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,305,658 (GRCm39) |
D253G |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,613,284 (GRCm39) |
I803F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,500,129 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,133,689 (GRCm39) |
N243Y |
probably damaging |
Het |
| Myorg |
A |
G |
4: 41,497,996 (GRCm39) |
Y545H |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,679,110 (GRCm39) |
M759I |
probably benign |
Het |
| Nipal4 |
A |
G |
11: 46,041,139 (GRCm39) |
I352T |
possibly damaging |
Het |
| Nomo1 |
A |
G |
7: 45,683,329 (GRCm39) |
E25G |
possibly damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,020 (GRCm39) |
S255P |
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,903,065 (GRCm39) |
I151T |
probably benign |
Het |
| Or14j7 |
A |
G |
17: 38,234,591 (GRCm39) |
I45V |
probably damaging |
Het |
| Or1e32 |
T |
C |
11: 73,705,050 (GRCm39) |
N286S |
probably damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,419 (GRCm39) |
I146L |
probably benign |
Het |
| Or5p66 |
T |
C |
7: 107,886,264 (GRCm39) |
D23G |
probably benign |
Het |
| Pabpn1l |
A |
G |
8: 123,349,183 (GRCm39) |
V78A |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,568,203 (GRCm39) |
I327N |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,834,768 (GRCm39) |
|
probably benign |
Het |
| Pkm |
C |
T |
9: 59,575,818 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,482,863 (GRCm39) |
V1519I |
probably benign |
Het |
| Ppp2cb |
T |
C |
8: 34,105,689 (GRCm39) |
|
probably null |
Het |
| Prickle2 |
A |
G |
6: 92,387,984 (GRCm39) |
Y473H |
probably benign |
Het |
| Prpf3 |
A |
G |
3: 95,751,535 (GRCm39) |
W389R |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,765,264 (GRCm39) |
E544K |
possibly damaging |
Het |
| Relb |
A |
T |
7: 19,345,767 (GRCm39) |
D395E |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,307,389 (GRCm39) |
N683S |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,964,596 (GRCm39) |
C102R |
probably benign |
Het |
| Sel1l3 |
C |
T |
5: 53,301,379 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,878,887 (GRCm39) |
T458A |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,629,340 (GRCm39) |
M931K |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,249,539 (GRCm39) |
V795A |
probably benign |
Het |
| Tgm3 |
A |
G |
2: 129,854,326 (GRCm39) |
S2G |
probably benign |
Het |
| Tpbpa |
T |
C |
13: 61,087,867 (GRCm39) |
T75A |
probably damaging |
Het |
| Trub1 |
A |
G |
19: 57,473,495 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,328,604 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
A |
G |
5: 87,475,065 (GRCm39) |
V393A |
possibly damaging |
Het |
| Vav3 |
T |
A |
3: 109,470,151 (GRCm39) |
M532K |
possibly damaging |
Het |
| Zfp616 |
A |
T |
11: 73,975,850 (GRCm39) |
K706N |
probably damaging |
Het |
| Zkscan1 |
T |
C |
5: 138,091,432 (GRCm39) |
F55S |
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 |
|
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 |
|
|
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'- TGTTGATCACACCAGATCCCCTGAC -3'
(R):5'- ACGTaggcaagcatgatggcag -3'
Sequencing Primer
(F):5'- ACTTATTAGAACACTTGTCCAGCC -3'
(R):5'- aaattccagactaaagaaggctatac -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation