Incidental Mutation 'R0336:Brca1'
ID |
34134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
038545-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0336 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101414819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1105
(V1105A)
|
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: V1105A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: V1105A
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000188168
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
Validation Efficiency |
98% (62/63) |
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 |
Abca13 |
A |
G |
11: 9,248,481 (GRCm39) |
I2743V |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,939,913 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,458,998 (GRCm39) |
I427V |
probably benign |
Het |
Arhgef1 |
T |
A |
7: 24,621,382 (GRCm39) |
F510I |
possibly damaging |
Het |
B3glct |
A |
G |
5: 149,670,057 (GRCm39) |
D342G |
probably damaging |
Het |
Bcl2a1c |
G |
T |
9: 114,159,353 (GRCm39) |
V44F |
probably damaging |
Het |
Ccn5 |
C |
A |
2: 163,674,242 (GRCm39) |
A214D |
probably damaging |
Het |
Cep135 |
A |
G |
5: 76,749,349 (GRCm39) |
H272R |
probably benign |
Het |
Coa8 |
T |
C |
12: 111,700,092 (GRCm39) |
|
probably benign |
Het |
Cog1 |
A |
C |
11: 113,553,076 (GRCm39) |
H365P |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,609,627 (GRCm39) |
L293Q |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,894,570 (GRCm39) |
L1493P |
probably damaging |
Het |
Ctsh |
A |
G |
9: 89,957,791 (GRCm39) |
Y290C |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Defb39 |
G |
T |
8: 19,102,985 (GRCm39) |
H37N |
possibly damaging |
Het |
Epha3 |
A |
G |
16: 63,387,011 (GRCm39) |
I875T |
probably damaging |
Het |
Fbrsl1 |
A |
G |
5: 110,595,817 (GRCm39) |
S73P |
probably damaging |
Het |
Fga |
T |
C |
3: 82,938,164 (GRCm39) |
S180P |
probably damaging |
Het |
Fndc1 |
C |
T |
17: 7,983,939 (GRCm39) |
R1329Q |
unknown |
Het |
Fyn |
C |
A |
10: 39,402,897 (GRCm39) |
T223K |
possibly damaging |
Het |
Galnt6 |
A |
T |
15: 100,597,087 (GRCm39) |
S360T |
probably damaging |
Het |
Grsf1 |
C |
A |
5: 88,811,012 (GRCm39) |
V336F |
probably damaging |
Het |
Hip1 |
A |
T |
5: 135,457,467 (GRCm39) |
Y720N |
probably benign |
Het |
Hivep3 |
G |
A |
4: 119,961,044 (GRCm39) |
E1700K |
probably damaging |
Het |
Ifna6 |
T |
C |
4: 88,746,178 (GRCm39) |
S176P |
probably damaging |
Het |
Lilrb4b |
T |
A |
10: 51,357,389 (GRCm39) |
L75Q |
probably benign |
Het |
Lrig3 |
C |
T |
10: 125,802,574 (GRCm39) |
T77I |
probably benign |
Het |
Mpped1 |
C |
T |
15: 83,720,483 (GRCm39) |
P135L |
probably damaging |
Het |
Mss51 |
T |
A |
14: 20,533,254 (GRCm39) |
I406F |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,155,040 (GRCm39) |
N956D |
probably damaging |
Het |
Or4a27 |
T |
C |
2: 88,559,498 (GRCm39) |
I148M |
possibly damaging |
Het |
Podxl2 |
G |
A |
6: 88,826,577 (GRCm39) |
T243I |
probably benign |
Het |
Polr2a |
C |
T |
11: 69,627,719 (GRCm39) |
R1396Q |
possibly damaging |
Het |
Pramel51 |
T |
C |
12: 88,144,961 (GRCm39) |
I122V |
probably benign |
Het |
Pygm |
C |
T |
19: 6,438,788 (GRCm39) |
R205W |
probably damaging |
Het |
Rfx3 |
A |
G |
19: 27,783,662 (GRCm39) |
M428T |
probably benign |
Het |
Ric1 |
A |
T |
19: 29,565,193 (GRCm39) |
T647S |
probably damaging |
Het |
Rictor |
G |
A |
15: 6,806,234 (GRCm39) |
|
probably null |
Het |
Rnf38 |
A |
T |
4: 44,152,350 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,935,892 (GRCm39) |
I41K |
probably damaging |
Het |
St8sia4 |
T |
A |
1: 95,581,283 (GRCm39) |
D153V |
probably benign |
Het |
Stk33 |
T |
C |
7: 108,930,681 (GRCm39) |
N226S |
probably benign |
Het |
Strn3 |
A |
G |
12: 51,708,391 (GRCm39) |
|
probably null |
Het |
Tlr6 |
G |
T |
5: 65,111,289 (GRCm39) |
N539K |
probably benign |
Het |
Tmem129 |
G |
T |
5: 33,812,946 (GRCm39) |
P134Q |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,678,211 (GRCm39) |
I145V |
probably benign |
Het |
Trap1 |
A |
C |
16: 3,862,490 (GRCm39) |
V596G |
probably damaging |
Het |
Tspan2 |
A |
G |
3: 102,642,343 (GRCm39) |
I11V |
probably null |
Het |
Ttc23 |
A |
T |
7: 67,312,231 (GRCm39) |
H46L |
probably benign |
Het |
Txnip |
T |
A |
3: 96,467,295 (GRCm39) |
D292E |
probably benign |
Het |
Vmn1r121 |
T |
A |
7: 20,832,387 (GRCm39) |
I18F |
possibly damaging |
Het |
Vmn1r61 |
G |
A |
7: 5,614,066 (GRCm39) |
H83Y |
probably benign |
Het |
Vmn1r82 |
T |
C |
7: 12,039,248 (GRCm39) |
S174P |
probably benign |
Het |
Vmn2r79 |
A |
C |
7: 86,651,287 (GRCm39) |
T229P |
probably benign |
Het |
Vps13b |
T |
G |
15: 35,455,279 (GRCm39) |
Y729* |
probably null |
Het |
Xdh |
C |
T |
17: 74,229,458 (GRCm39) |
V332M |
possibly damaging |
Het |
Xkr5 |
C |
A |
8: 18,990,652 (GRCm39) |
R205L |
possibly damaging |
Het |
Zc3h4 |
T |
C |
7: 16,169,103 (GRCm39) |
S1071P |
unknown |
Het |
Zc3h6 |
A |
G |
2: 128,857,332 (GRCm39) |
H617R |
possibly damaging |
Het |
Zfp597 |
A |
G |
16: 3,684,243 (GRCm39) |
V171A |
probably benign |
Het |
Zfp709 |
T |
C |
8: 72,644,449 (GRCm39) |
F626S |
probably damaging |
Het |
Zfp944 |
C |
A |
17: 22,558,009 (GRCm39) |
D413Y |
probably damaging |
Het |
Zfp979 |
A |
C |
4: 147,697,592 (GRCm39) |
S372R |
possibly 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 |
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 |
|
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'- TCGATGCATGGGTTACAGGACTAGG -3'
(R):5'- ATCATCAACTGAGATGGCGGTGGG -3'
Sequencing Primer
(F):5'- TTACAGGACTAGGGCTCCTACTG -3'
(R):5'- TCCTTCCCAGGACAACTAGGTAG -3'
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Posted On |
2013-05-09 |