Incidental Mutation 'R7861:Brca1'
ID |
607534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
045914-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7861 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101417248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 295
(N295K)
|
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: N295K
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: N295K
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
T |
A |
5: 103,797,360 (GRCm39) |
I50F |
possibly damaging |
Het |
Abcc3 |
T |
C |
11: 94,248,075 (GRCm39) |
D1175G |
probably null |
Het |
Accs |
C |
A |
2: 93,666,077 (GRCm39) |
*503L |
probably null |
Het |
Adgra2 |
A |
G |
8: 27,604,485 (GRCm39) |
E520G |
probably damaging |
Het |
Aldh7a1 |
C |
A |
18: 56,681,525 (GRCm39) |
C215F |
probably benign |
Het |
Apbb1ip |
A |
C |
2: 22,706,990 (GRCm39) |
D9A |
unknown |
Het |
Atad2 |
G |
A |
15: 57,989,176 (GRCm39) |
A228V |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,438,107 (GRCm39) |
S430P |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,700,573 (GRCm39) |
D6G |
unknown |
Het |
Caly |
C |
A |
7: 139,661,301 (GRCm39) |
|
probably benign |
Het |
Ces1h |
A |
G |
8: 94,084,053 (GRCm39) |
Y386H |
unknown |
Het |
Col14a1 |
A |
G |
15: 55,308,012 (GRCm39) |
D1044G |
unknown |
Het |
Csf2rb |
A |
G |
15: 78,233,357 (GRCm39) |
D888G |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
Dhrs7b |
T |
A |
11: 60,746,568 (GRCm39) |
L219Q |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
Dnah14 |
C |
T |
1: 181,444,324 (GRCm39) |
P545S |
probably damaging |
Het |
Dnajc24 |
A |
T |
2: 105,832,380 (GRCm39) |
M1K |
probably null |
Het |
Dusp12 |
C |
T |
1: 170,702,095 (GRCm39) |
W301* |
probably null |
Het |
Dyrk1a |
G |
T |
16: 94,492,575 (GRCm39) |
G603* |
probably null |
Het |
Eif4g1 |
T |
A |
16: 20,498,452 (GRCm39) |
V403E |
probably benign |
Het |
Epn3 |
T |
C |
11: 94,387,100 (GRCm39) |
E90G |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,810,721 (GRCm39) |
S1303G |
probably benign |
Het |
Evpl |
A |
T |
11: 116,118,895 (GRCm39) |
Y627N |
probably damaging |
Het |
Fbxw25 |
A |
T |
9: 109,493,625 (GRCm39) |
L22* |
probably null |
Het |
Fcamr |
T |
A |
1: 130,742,375 (GRCm39) |
N587K |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,939,193 (GRCm39) |
N946S |
probably benign |
Het |
Fndc3b |
A |
T |
3: 27,523,148 (GRCm39) |
I477N |
possibly damaging |
Het |
Grifin |
C |
T |
5: 140,550,280 (GRCm39) |
A54T |
probably benign |
Het |
Gtf2b |
A |
G |
3: 142,487,105 (GRCm39) |
I180M |
probably damaging |
Het |
Invs |
A |
T |
4: 48,397,559 (GRCm39) |
D378V |
possibly damaging |
Het |
Itgb6 |
T |
C |
2: 60,458,788 (GRCm39) |
E378G |
probably damaging |
Het |
Khdc1a |
T |
C |
1: 21,420,623 (GRCm39) |
I81T |
possibly damaging |
Het |
Kif20b |
T |
A |
19: 34,917,322 (GRCm39) |
D617E |
probably damaging |
Het |
Kifc3 |
T |
A |
8: 95,834,165 (GRCm39) |
|
probably null |
Het |
Kirrel3 |
C |
T |
9: 34,931,419 (GRCm39) |
H403Y |
possibly damaging |
Het |
Klf15 |
G |
A |
6: 90,443,820 (GRCm39) |
V132I |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,730,031 (GRCm39) |
S3429P |
unknown |
Het |
Lama1 |
T |
G |
17: 68,116,216 (GRCm39) |
L2361R |
|
Het |
Lrp1b |
T |
C |
2: 40,587,570 (GRCm39) |
D3895G |
|
Het |
Mcoln3 |
A |
C |
3: 145,830,546 (GRCm39) |
E92A |
possibly damaging |
Het |
Myo3b |
T |
C |
2: 69,939,032 (GRCm39) |
M135T |
probably damaging |
Het |
Mysm1 |
A |
G |
4: 94,835,204 (GRCm39) |
*820Q |
probably null |
Het |
Ncoa7 |
A |
G |
10: 30,567,056 (GRCm39) |
S541P |
probably benign |
Het |
Nup54 |
T |
C |
5: 92,578,952 (GRCm39) |
T33A |
unknown |
Het |
Or10al2 |
C |
A |
17: 37,983,408 (GRCm39) |
Q165K |
possibly damaging |
Het |
Or13a17 |
T |
G |
7: 140,271,484 (GRCm39) |
I222S |
probably damaging |
Het |
Or1s2 |
T |
C |
19: 13,758,810 (GRCm39) |
V276A |
possibly damaging |
Het |
Or4k42 |
T |
A |
2: 111,320,369 (GRCm39) |
I45F |
probably damaging |
Het |
Or51a5 |
T |
A |
7: 102,771,899 (GRCm39) |
I27F |
probably benign |
Het |
Otud6b |
A |
G |
4: 14,826,414 (GRCm39) |
C18R |
probably benign |
Het |
Pde4d |
A |
G |
13: 110,071,858 (GRCm39) |
E284G |
probably damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Pidd1 |
C |
A |
7: 141,020,055 (GRCm39) |
W598L |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,847,543 (GRCm39) |
C49S |
probably damaging |
Het |
Pramel11 |
T |
C |
4: 143,624,288 (GRCm39) |
M70V |
possibly damaging |
Het |
Prdx1 |
T |
G |
4: 116,550,935 (GRCm39) |
D135E |
probably benign |
Het |
Rab15 |
T |
A |
12: 76,849,903 (GRCm39) |
Y88F |
probably damaging |
Het |
Rem2 |
C |
A |
14: 54,715,256 (GRCm39) |
H144Q |
probably damaging |
Het |
Sel1l3 |
T |
C |
5: 53,301,406 (GRCm39) |
D737G |
probably damaging |
Het |
Srd5a3 |
C |
T |
5: 76,295,666 (GRCm39) |
Q119* |
probably null |
Het |
Suclg2 |
G |
T |
6: 95,571,703 (GRCm39) |
Q120K |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,227,161 (GRCm39) |
M1282K |
probably benign |
Het |
Tbc1d5 |
T |
A |
17: 51,063,720 (GRCm39) |
Q620L |
probably damaging |
Het |
Tdrd3 |
G |
T |
14: 87,709,590 (GRCm39) |
A91S |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,087,435 (GRCm39) |
F1184Y |
probably benign |
Het |
Trim28 |
T |
A |
7: 12,762,339 (GRCm39) |
V321E |
possibly damaging |
Het |
Trim5 |
C |
A |
7: 103,915,675 (GRCm39) |
|
probably null |
Het |
Ugt2b37 |
A |
T |
5: 87,390,299 (GRCm39) |
Y382* |
probably null |
Het |
Usp40 |
C |
T |
1: 87,909,852 (GRCm39) |
G534D |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,728,112 (GRCm39) |
H823Q |
probably benign |
Het |
Vmn2r12 |
T |
A |
5: 109,235,829 (GRCm39) |
M508L |
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,449,351 (GRCm39) |
I296F |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,632,668 (GRCm39) |
S2563G |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,220,912 (GRCm39) |
F207L |
|
Het |
Zan |
A |
G |
5: 137,405,295 (GRCm39) |
S3777P |
unknown |
Het |
Zfp277 |
T |
C |
12: 40,365,880 (GRCm39) |
N530D |
possibly damaging |
Het |
Zfp365 |
G |
A |
10: 67,745,749 (GRCm39) |
R10W |
probably damaging |
Het |
Zfp384 |
A |
T |
6: 125,013,288 (GRCm39) |
H452L |
probably damaging |
Het |
Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
Zfyve28 |
A |
T |
5: 34,374,487 (GRCm39) |
L509Q |
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 |
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'- TCTCAGGGCACAGACTTTGC -3'
(R):5'- GAGTTTTCTGAGGGCATAAGAAAC -3'
Sequencing Primer
(F):5'- CACAGACTTTGCGGGTGAGTC -3'
(R):5'- TTCTGAGGGCATAAGAAACATTGAAC -3'
|
Posted On |
2019-12-20 |