Incidental Mutation 'R8306:Brca1'
ID |
641093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
067792-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8306 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 101416463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 557
(Q557P)
|
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: Q557P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: Q557P
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
Aarsd1 |
C |
A |
11: 101,302,194 (GRCm39) |
V158F |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,434,409 (GRCm39) |
C22* |
probably null |
Het |
Adam1b |
T |
C |
5: 121,641,212 (GRCm39) |
|
probably benign |
Het |
Ambn |
G |
A |
5: 88,607,281 (GRCm39) |
E50K |
possibly damaging |
Het |
Ash1l |
A |
G |
3: 88,873,259 (GRCm39) |
D14G |
probably benign |
Het |
Asphd1 |
C |
T |
7: 126,547,784 (GRCm39) |
R173H |
probably damaging |
Het |
Atr |
A |
T |
9: 95,802,423 (GRCm39) |
T1772S |
|
Het |
Best3 |
T |
C |
10: 116,838,515 (GRCm39) |
L191P |
probably damaging |
Het |
Bola1 |
A |
T |
3: 96,104,517 (GRCm39) |
S26T |
probably benign |
Het |
Borcs6 |
T |
C |
11: 68,950,646 (GRCm39) |
L8P |
probably benign |
Het |
Brca2 |
G |
A |
5: 150,460,128 (GRCm39) |
E468K |
possibly damaging |
Het |
Capza2 |
T |
A |
6: 17,637,131 (GRCm39) |
L4Q |
probably benign |
Het |
Cc2d2b |
T |
A |
19: 40,804,228 (GRCm39) |
Y918* |
probably null |
Het |
Ccdc163 |
T |
C |
4: 116,567,472 (GRCm39) |
L67P |
probably damaging |
Het |
Ccdc172 |
C |
A |
19: 58,525,022 (GRCm39) |
Q160K |
probably damaging |
Het |
Ccp110 |
T |
A |
7: 118,321,903 (GRCm39) |
D519E |
probably benign |
Het |
Cd300ld2 |
T |
C |
11: 114,904,648 (GRCm39) |
Q73R |
probably benign |
Het |
Cfap46 |
T |
A |
7: 139,236,496 (GRCm39) |
D608V |
|
Het |
Cfap69 |
T |
G |
5: 5,654,287 (GRCm39) |
Y549S |
probably benign |
Het |
Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
Clu |
A |
C |
14: 66,217,211 (GRCm39) |
Q348P |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,473,649 (GRCm39) |
N1153K |
probably benign |
Het |
Col2a1 |
T |
C |
15: 97,888,849 (GRCm39) |
|
probably null |
Het |
Col6a6 |
A |
T |
9: 105,661,272 (GRCm39) |
I279N |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,402,259 (GRCm39) |
D1153G |
possibly damaging |
Het |
Dpyd |
A |
G |
3: 119,205,822 (GRCm39) |
K888E |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,287,656 (GRCm39) |
I1208T |
possibly damaging |
Het |
Epha1 |
T |
C |
6: 42,335,722 (GRCm39) |
I972V |
probably damaging |
Het |
Fam13c |
C |
T |
10: 70,388,983 (GRCm39) |
T503I |
probably benign |
Het |
Fbxo43 |
T |
A |
15: 36,162,013 (GRCm39) |
Q398L |
probably benign |
Het |
Fbxo44 |
A |
G |
4: 148,243,089 (GRCm39) |
I57T |
probably benign |
Het |
Flnc |
T |
C |
6: 29,449,369 (GRCm39) |
I1422T |
probably benign |
Het |
Flrt2 |
T |
C |
12: 95,746,076 (GRCm39) |
L138P |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,338,840 (GRCm39) |
K378E |
possibly damaging |
Het |
Ganc |
T |
A |
2: 120,252,560 (GRCm39) |
D128E |
probably benign |
Het |
Gm19965 |
T |
C |
1: 116,749,515 (GRCm39) |
S399P |
|
Het |
H2-Q1 |
A |
T |
17: 35,539,997 (GRCm39) |
K89* |
probably null |
Het |
H2-Q2 |
A |
T |
17: 35,561,301 (GRCm39) |
|
probably benign |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Homer2 |
T |
A |
7: 81,274,014 (GRCm39) |
S125C |
possibly damaging |
Het |
Hormad2 |
T |
C |
11: 4,358,714 (GRCm39) |
K231R |
probably benign |
Het |
Kif17 |
A |
C |
4: 138,005,220 (GRCm39) |
K262Q |
probably damaging |
Het |
Kif20a |
G |
A |
18: 34,761,444 (GRCm39) |
S279N |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,741,450 (GRCm39) |
N441D |
probably damaging |
Het |
Lta4h |
G |
T |
10: 93,318,126 (GRCm39) |
L515F |
possibly damaging |
Het |
Mavs |
T |
C |
2: 131,088,470 (GRCm39) |
S425P |
probably benign |
Het |
Mcat |
A |
C |
15: 83,439,592 (GRCm39) |
D99E |
probably damaging |
Het |
Nav2 |
C |
A |
7: 49,195,765 (GRCm39) |
T1047K |
probably benign |
Het |
Neb |
T |
A |
2: 52,099,657 (GRCm39) |
Y4731F |
probably damaging |
Het |
Nectin4 |
G |
C |
1: 171,211,325 (GRCm39) |
R283P |
probably null |
Het |
Notch3 |
G |
A |
17: 32,377,086 (GRCm39) |
T273I |
probably damaging |
Het |
Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
Or5i1 |
A |
T |
2: 87,613,830 (GRCm39) |
*317C |
probably null |
Het |
Or6b2b |
T |
G |
1: 92,419,247 (GRCm39) |
I77L |
possibly damaging |
Het |
Or6z7 |
T |
A |
7: 6,483,868 (GRCm39) |
I96F |
possibly damaging |
Het |
Pcdha12 |
A |
T |
18: 37,155,638 (GRCm39) |
T786S |
probably benign |
Het |
Pde9a |
A |
G |
17: 31,692,186 (GRCm39) |
K520E |
probably benign |
Het |
Piezo2 |
A |
C |
18: 63,208,801 (GRCm39) |
L1404R |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,792,416 (GRCm39) |
S1321G |
probably benign |
Het |
Rtkn |
T |
C |
6: 83,128,897 (GRCm39) |
V464A |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,147 (GRCm39) |
F193S |
probably damaging |
Het |
Samd4 |
G |
A |
14: 47,122,374 (GRCm39) |
V33I |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,350,357 (GRCm39) |
L839P |
probably damaging |
Het |
Slc6a17 |
C |
A |
3: 107,380,985 (GRCm39) |
V507L |
probably benign |
Het |
Stradb |
C |
A |
1: 59,030,356 (GRCm39) |
N203K |
unknown |
Het |
Tenm2 |
T |
C |
11: 35,960,196 (GRCm39) |
T1044A |
possibly damaging |
Het |
Tmem245 |
A |
C |
4: 56,886,037 (GRCm39) |
W860G |
probably damaging |
Het |
Tpst2 |
G |
A |
5: 112,455,803 (GRCm39) |
R114H |
probably damaging |
Het |
Trappc10 |
C |
T |
10: 78,036,460 (GRCm39) |
D920N |
possibly damaging |
Het |
Vmn1r59 |
T |
A |
7: 5,456,966 (GRCm39) |
I265L |
probably benign |
Het |
Zbtb20 |
A |
C |
16: 43,439,100 (GRCm39) |
D667A |
probably damaging |
Het |
Zbtb4 |
T |
A |
11: 69,668,309 (GRCm39) |
I344N |
probably damaging |
Het |
Zdbf2 |
T |
A |
1: 63,343,234 (GRCm39) |
C538S |
possibly damaging |
Het |
Zmym6 |
A |
T |
4: 127,016,355 (GRCm39) |
H712L |
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 |
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'- AGCTCAGCACAAGTAGGTGG -3'
(R):5'- CGTAAGAGAAGTACATCCCTTCAAC -3'
Sequencing Primer
(F):5'- CTACTGATTGGTTCAAGTGGAAGAGC -3'
(R):5'- TTCAACCTGAGGACTTCATCAAG -3'
|
Posted On |
2020-07-28 |