Incidental Mutation 'R4571:Brca1'
| ID |
342152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| MMRRC Submission |
041795-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4571 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101408192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1377
(R1377L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
|
| AlphaFold |
P48754 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017290
AA Change: R1377L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: R1377L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,920,884 (GRCm39) |
C1497S |
probably damaging |
Het |
| Acoxl |
G |
T |
2: 127,719,727 (GRCm39) |
G163W |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,969 (GRCm39) |
N214I |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,307,734 (GRCm39) |
K254E |
probably benign |
Het |
| Arl4d |
T |
A |
11: 101,557,969 (GRCm39) |
V165E |
possibly damaging |
Het |
| Btf3 |
A |
G |
13: 98,449,792 (GRCm39) |
F65L |
probably benign |
Het |
| C2 |
T |
C |
17: 35,082,635 (GRCm39) |
N495D |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,607,341 (GRCm39) |
T1188A |
probably benign |
Het |
| Chd7 |
C |
A |
4: 8,866,217 (GRCm39) |
D796E |
probably benign |
Het |
| Clasp2 |
G |
T |
9: 113,676,789 (GRCm39) |
L173F |
probably damaging |
Het |
| Clec4g |
A |
T |
8: 3,768,766 (GRCm39) |
|
probably null |
Het |
| Col9a3 |
T |
C |
2: 180,258,159 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,373,888 (GRCm39) |
|
probably null |
Het |
| Ddx11 |
T |
C |
17: 66,437,768 (GRCm39) |
C165R |
probably benign |
Het |
| Dnah7c |
A |
C |
1: 46,572,376 (GRCm39) |
M950L |
probably damaging |
Het |
| Dusp23 |
A |
C |
1: 172,460,181 (GRCm39) |
|
probably null |
Het |
| Ebag9 |
A |
T |
15: 44,500,158 (GRCm39) |
|
probably null |
Het |
| Edn3 |
G |
A |
2: 174,623,697 (GRCm39) |
A211T |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,129,558 (GRCm39) |
T190I |
possibly damaging |
Het |
| Fam76a |
T |
C |
4: 132,648,208 (GRCm39) |
H3R |
possibly damaging |
Het |
| Gabbr1 |
G |
T |
17: 37,365,128 (GRCm39) |
E138* |
probably null |
Het |
| Galc |
T |
C |
12: 98,188,876 (GRCm39) |
T412A |
probably benign |
Het |
| Gimap3 |
T |
C |
6: 48,742,654 (GRCm39) |
D92G |
possibly damaging |
Het |
| Gin1 |
T |
C |
1: 97,712,801 (GRCm39) |
Y285H |
probably damaging |
Het |
| Gm4868 |
A |
G |
5: 125,925,782 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7052 |
T |
A |
17: 22,259,405 (GRCm39) |
|
probably benign |
Het |
| Gpcpd1 |
T |
A |
2: 132,392,270 (GRCm39) |
E226D |
probably benign |
Het |
| Hoxb4 |
T |
C |
11: 96,209,992 (GRCm39) |
S133P |
possibly damaging |
Het |
| Hrg |
C |
T |
16: 22,779,972 (GRCm39) |
|
probably benign |
Het |
| Insrr |
A |
G |
3: 87,708,194 (GRCm39) |
K212R |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,387,655 (GRCm39) |
D411G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,902,461 (GRCm39) |
F172L |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 927,110 (GRCm39) |
F616S |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,361,295 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,125,030 (GRCm39) |
Q496H |
probably damaging |
Het |
| Map3k9 |
C |
A |
12: 81,780,865 (GRCm39) |
A432S |
probably benign |
Het |
| Nop2 |
T |
G |
6: 125,117,844 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
A |
6: 96,141,862 (GRCm39) |
N394I |
probably damaging |
Het |
| Or10ag53 |
C |
A |
2: 87,082,802 (GRCm39) |
Q174K |
possibly damaging |
Het |
| Or2h2 |
T |
C |
17: 37,396,471 (GRCm39) |
I195M |
probably damaging |
Het |
| Or5m11b |
A |
T |
2: 85,806,175 (GRCm39) |
E196V |
probably damaging |
Het |
| Or6k2 |
A |
T |
1: 173,986,494 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Pan2 |
A |
G |
10: 128,144,512 (GRCm39) |
T187A |
probably benign |
Het |
| Pcmtd2 |
A |
G |
2: 181,484,217 (GRCm39) |
E9G |
possibly damaging |
Het |
| Pik3cb |
T |
A |
9: 98,972,310 (GRCm39) |
I283F |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,683,633 (GRCm39) |
T40I |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,493,296 (GRCm39) |
V1857A |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,110,127 (GRCm39) |
S334G |
probably damaging |
Het |
| Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
| Rpl5-ps2 |
G |
T |
2: 154,546,156 (GRCm39) |
|
noncoding transcript |
Het |
| Slc6a18 |
A |
T |
13: 73,814,489 (GRCm39) |
N468K |
possibly damaging |
Het |
| Slco4a1 |
A |
T |
2: 180,106,171 (GRCm39) |
T118S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,738,688 (GRCm39) |
N3520K |
possibly damaging |
Het |
| Tapbp |
C |
A |
17: 34,145,427 (GRCm39) |
D415E |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,576,501 (GRCm39) |
T31A |
probably benign |
Het |
| Trpv6 |
C |
T |
6: 41,598,678 (GRCm39) |
R649H |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,688 (GRCm39) |
Y214C |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,254,525 (GRCm39) |
I59N |
probably damaging |
Het |
| Wnt9a |
T |
C |
11: 59,222,163 (GRCm39) |
C354R |
probably damaging |
Het |
| Zcchc2 |
A |
G |
1: 105,958,987 (GRCm39) |
T1153A |
possibly damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,627 (GRCm39) |
R294G |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
Het |
| Zfp62 |
A |
C |
11: 49,106,568 (GRCm39) |
S220R |
probably damaging |
Het |
| Zfp62 |
G |
T |
11: 49,106,569 (GRCm39) |
S220I |
probably damaging |
Het |
| Zp3r |
A |
G |
1: 130,505,757 (GRCm39) |
S423P |
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 |
|
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'- TCACTCTTCGAAGGAAACAGAGG -3'
(R):5'- TTGGATTAAAGGGTATTCAGCCAG -3'
Sequencing Primer
(F):5'- CTTCGAAGGAAACAGAGGGTCGAG -3'
(R):5'- TAAAGGGTATTCAGCCAGAACTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation