Incidental Mutation 'R2106:Brca1'
ID |
230995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
040110-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2106 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101415803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 777
(V777A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000191198]
|
AlphaFold |
P48754 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017290
AA Change: V777A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: V777A
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl2 |
T |
C |
2: 26,992,837 (GRCm39) |
F650S |
probably benign |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
Ankrd61 |
A |
T |
5: 143,828,564 (GRCm39) |
L95Q |
probably damaging |
Het |
Atp11a |
A |
G |
8: 12,885,228 (GRCm39) |
T22A |
probably benign |
Het |
Ccdc40 |
G |
T |
11: 119,155,123 (GRCm39) |
R1121L |
probably damaging |
Het |
Cdhr4 |
A |
C |
9: 107,874,693 (GRCm39) |
S588R |
possibly damaging |
Het |
Cfap69 |
T |
C |
5: 5,645,979 (GRCm39) |
N517D |
probably benign |
Het |
Chrm2 |
T |
C |
6: 36,500,382 (GRCm39) |
Y80H |
probably damaging |
Het |
Cimip2a |
A |
G |
2: 25,110,663 (GRCm39) |
Y157C |
probably damaging |
Het |
Csgalnact2 |
G |
T |
6: 118,086,090 (GRCm39) |
Y534* |
probably null |
Het |
Defb35 |
A |
G |
8: 22,430,809 (GRCm39) |
E61G |
unknown |
Het |
Dhx15 |
A |
T |
5: 52,327,428 (GRCm39) |
D95E |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,582,792 (GRCm39) |
V271A |
probably damaging |
Het |
Dlg1 |
T |
C |
16: 31,631,574 (GRCm39) |
S444P |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,825,686 (GRCm39) |
N406K |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,810,230 (GRCm39) |
|
probably benign |
Het |
Epb41 |
A |
G |
4: 131,717,152 (GRCm39) |
I56T |
probably damaging |
Het |
Epg5 |
T |
A |
18: 78,034,578 (GRCm39) |
Y1442* |
probably null |
Het |
Fat2 |
T |
C |
11: 55,147,390 (GRCm39) |
T3951A |
probably benign |
Het |
Fryl |
A |
G |
5: 73,255,674 (GRCm39) |
S786P |
probably damaging |
Het |
Fyb2 |
A |
G |
4: 104,802,769 (GRCm39) |
T224A |
probably benign |
Het |
Ginm1 |
A |
T |
10: 7,651,090 (GRCm39) |
F105L |
probably damaging |
Het |
Heatr1 |
T |
C |
13: 12,426,939 (GRCm39) |
V688A |
probably benign |
Het |
Hnmt |
T |
G |
2: 23,909,130 (GRCm39) |
Q94H |
probably benign |
Het |
Ice1 |
A |
G |
13: 70,753,741 (GRCm39) |
Y782H |
probably benign |
Het |
Immt |
T |
C |
6: 71,848,499 (GRCm39) |
V418A |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
Krt84 |
T |
C |
15: 101,439,301 (GRCm39) |
N248D |
probably damaging |
Het |
Lig1 |
C |
A |
7: 13,039,863 (GRCm39) |
R692S |
probably damaging |
Het |
Lvrn |
G |
T |
18: 47,011,356 (GRCm39) |
A438S |
probably damaging |
Het |
Mast4 |
C |
T |
13: 102,887,054 (GRCm39) |
V1204I |
probably damaging |
Het |
Med21 |
G |
T |
6: 146,550,710 (GRCm39) |
D74Y |
probably damaging |
Het |
Nat8 |
T |
C |
6: 85,807,506 (GRCm39) |
D209G |
probably benign |
Het |
Nipal1 |
C |
A |
5: 72,820,902 (GRCm39) |
F132L |
probably damaging |
Het |
Npr2 |
A |
T |
4: 43,644,329 (GRCm39) |
I613F |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,617,073 (GRCm39) |
T706A |
probably benign |
Het |
Or5w1b |
A |
G |
2: 87,475,895 (GRCm39) |
S191P |
probably damaging |
Het |
Or8w1 |
T |
C |
2: 87,465,503 (GRCm39) |
E196G |
probably benign |
Het |
Pam |
A |
G |
1: 97,759,215 (GRCm39) |
V823A |
probably damaging |
Het |
Pdik1l |
A |
T |
4: 134,011,565 (GRCm39) |
Y93N |
probably damaging |
Het |
Perm1 |
T |
C |
4: 156,303,336 (GRCm39) |
W627R |
probably damaging |
Het |
Pofut1 |
G |
A |
2: 153,101,713 (GRCm39) |
|
probably null |
Het |
Prmt5 |
T |
C |
14: 54,745,374 (GRCm39) |
I598V |
probably benign |
Het |
Rab11fip5 |
T |
C |
6: 85,351,369 (GRCm39) |
I48V |
probably damaging |
Het |
Rad51d |
T |
A |
11: 82,770,134 (GRCm39) |
K261N |
probably damaging |
Het |
Rapgef6 |
T |
G |
11: 54,559,512 (GRCm39) |
I1050S |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,468,474 (GRCm39) |
E4688G |
probably damaging |
Het |
Siva1 |
G |
T |
12: 112,613,440 (GRCm39) |
R96L |
probably damaging |
Het |
Slc13a4 |
T |
C |
6: 35,264,799 (GRCm39) |
N140S |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,028,542 (GRCm39) |
D342V |
probably damaging |
Het |
Slfn9 |
A |
G |
11: 82,878,506 (GRCm39) |
S208P |
possibly damaging |
Het |
Sspo |
C |
A |
6: 48,443,250 (GRCm39) |
T1899N |
possibly damaging |
Het |
Sytl1 |
T |
C |
4: 132,984,774 (GRCm39) |
D200G |
probably benign |
Het |
Tas2r118 |
T |
C |
6: 23,969,569 (GRCm39) |
N164S |
probably benign |
Het |
Tbc1d17 |
A |
G |
7: 44,497,692 (GRCm39) |
|
probably null |
Het |
Tex14 |
T |
C |
11: 87,377,076 (GRCm39) |
M140T |
possibly damaging |
Het |
Tm6sf2 |
T |
C |
8: 70,532,396 (GRCm39) |
F352S |
probably benign |
Het |
Tmem88 |
A |
G |
11: 69,288,685 (GRCm39) |
L78P |
probably benign |
Het |
Trafd1 |
A |
G |
5: 121,511,274 (GRCm39) |
S515P |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,790,714 (GRCm39) |
E583V |
possibly damaging |
Het |
Ttc23l |
A |
G |
15: 10,547,342 (GRCm39) |
C91R |
probably damaging |
Het |
Ubap1l |
T |
C |
9: 65,281,089 (GRCm39) |
S256P |
probably benign |
Het |
Vmn1r26 |
T |
G |
6: 57,985,710 (GRCm39) |
S160R |
possibly damaging |
Het |
Vmn2r97 |
A |
G |
17: 19,168,100 (GRCm39) |
S785G |
probably damaging |
Het |
Wdr27 |
T |
G |
17: 15,141,116 (GRCm39) |
R278S |
probably benign |
Het |
Wdr7 |
T |
C |
18: 63,911,109 (GRCm39) |
S834P |
probably damaging |
Het |
Zdhhc12 |
C |
T |
2: 29,981,814 (GRCm39) |
C116Y |
probably damaging |
Het |
Zfp946 |
T |
C |
17: 22,672,466 (GRCm39) |
F22L |
probably benign |
Het |
Zfp948 |
G |
T |
17: 21,807,953 (GRCm39) |
E382* |
probably null |
Het |
Zfp956 |
T |
A |
6: 47,941,359 (GRCm39) |
*573K |
probably null |
Het |
Zim1 |
T |
G |
7: 6,681,073 (GRCm39) |
T197P |
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 |
|
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'- ACTGAGTATCAAGTTCACTGTCTTC -3'
(R):5'- TCTCAAGGGCCTGTCAATCC -3'
Sequencing Primer
(F):5'- CATTTCTACTTTCTCCTGACTGAGG -3'
(R):5'- TGTCAATCCCAGCCCTCAGAG -3'
|
Posted On |
2014-09-18 |