Incidental Mutation 'R0109:Brca1'
| ID |
64216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| MMRRC Submission |
038395-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0109 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101488764-101551955 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101531090 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 149
(D149G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000190862]
|
| AlphaFold |
P48754 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017290
AA Change: D149G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: D149G
| 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: ENSMUST00000190862
|
| SMART Domains |
Protein: ENSMUSP00000139599
Gene: ENSMUSG00000017146
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jm7a_
|
1 |
56 |
1e-6 |
SMART |
|
PDB:1JM7|A
|
1 |
63 |
1e-30 |
PDB |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 120,318,762 (GRCm38) |
K1496* |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,634,693 (GRCm38) |
R1335L |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,578,294 (GRCm38) |
S203T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,664,104 (GRCm38) |
T41I |
possibly damaging |
Het |
| Avil |
A |
G |
10: 127,013,644 (GRCm38) |
N603S |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,559,768 (GRCm38) |
|
probably null |
Het |
| Cps1 |
T |
C |
1: 67,229,418 (GRCm38) |
V1435A |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,518,157 (GRCm38) |
I459N |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,182,306 (GRCm38) |
E242G |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,467,670 (GRCm38) |
L94R |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,540,134 (GRCm38) |
V954A |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,111,487 (GRCm38) |
D309V |
probably damaging |
Het |
| Efhd2 |
A |
G |
4: 141,874,567 (GRCm38) |
F101L |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,988,235 (GRCm38) |
M325K |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,710,077 (GRCm38) |
S2077P |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,279,340 (GRCm38) |
E688D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,562,201 (GRCm38) |
V3824A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,259,151 (GRCm38) |
E264G |
probably benign |
Het |
| Mapk15 |
A |
T |
15: 75,996,077 (GRCm38) |
K153* |
probably null |
Het |
| Miox |
G |
A |
15: 89,335,581 (GRCm38) |
V91I |
probably benign |
Het |
| Nfyb |
G |
A |
10: 82,755,002 (GRCm38) |
A65V |
possibly damaging |
Het |
| Olfr1241 |
A |
G |
2: 89,482,803 (GRCm38) |
F111L |
probably benign |
Het |
| Olfr1442 |
C |
A |
19: 12,674,860 (GRCm38) |
F218L |
probably benign |
Het |
| Olfr646 |
T |
C |
7: 104,106,605 (GRCm38) |
S109P |
probably damaging |
Het |
| Parp9 |
T |
C |
16: 35,948,341 (GRCm38) |
I64T |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,998,889 (GRCm38) |
V43A |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,494,825 (GRCm38) |
V643E |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,379,047 (GRCm38) |
M176L |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,324,217 (GRCm38) |
|
probably null |
Het |
| Prdx2 |
G |
A |
8: 84,970,251 (GRCm38) |
G4S |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,313,081 (GRCm38) |
I50V |
possibly damaging |
Het |
| Rtl1 |
G |
A |
12: 109,595,407 (GRCm38) |
|
probably benign |
Het |
| Sgsm3 |
G |
C |
15: 81,009,466 (GRCm38) |
D434H |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 144,410,577 (GRCm38) |
S634P |
possibly damaging |
Het |
| Sik2 |
A |
G |
9: 50,899,475 (GRCm38) |
M447T |
possibly damaging |
Het |
| Sla2 |
A |
G |
2: 156,883,587 (GRCm38) |
|
probably null |
Het |
| Spata16 |
T |
A |
3: 26,913,267 (GRCm38) |
F389I |
probably damaging |
Het |
| Srebf1 |
G |
A |
11: 60,201,804 (GRCm38) |
A793V |
probably benign |
Het |
| Tmed11 |
T |
A |
5: 108,777,412 (GRCm38) |
D178V |
probably damaging |
Het |
| Traf7 |
A |
G |
17: 24,513,926 (GRCm38) |
F110L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,725,564 (GRCm38) |
I30366F |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 104,150,192 (GRCm38) |
V33M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,245,047 (GRCm38) |
Y278C |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,522,120 (GRCm38) |
P252Q |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,310,575 (GRCm38) |
Y184* |
probably null |
Het |
| Vmn2r53 |
C |
T |
7: 12,582,066 (GRCm38) |
A609T |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,572,119 (GRCm38) |
T961A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,519,278 (GRCm38) |
N3272K |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 170,115,462 (GRCm38) |
A539T |
probably benign |
Het |
| Zfp454 |
T |
A |
11: 50,883,775 (GRCm38) |
T24S |
possibly damaging |
Het |
|
| Other mutations in Brca1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Brca1
|
APN |
11 |
101,524,369 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01598:Brca1
|
APN |
11 |
101,524,330 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01744:Brca1
|
APN |
11 |
101,524,176 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL02128:Brca1
|
APN |
11 |
101,530,982 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02377:Brca1
|
APN |
11 |
101,524,323 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02701:Brca1
|
APN |
11 |
101,525,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02732:Brca1
|
APN |
11 |
101,492,219 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02935:Brca1
|
APN |
11 |
101,489,867 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02940:Brca1
|
APN |
11 |
101,489,912 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03198:Brca1
|
APN |
11 |
101,512,711 (GRCm38) |
splice site |
probably benign |
|
|
BB002:Brca1
|
UTSW |
11 |
101,508,146 (GRCm38) |
missense |
probably benign |
0.01 |
|
BB009:Brca1
|
UTSW |
11 |
101,540,017 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
BB012:Brca1
|
UTSW |
11 |
101,508,146 (GRCm38) |
missense |
probably benign |
0.01 |
|
BB019:Brca1
|
UTSW |
11 |
101,540,017 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
PIT4142001:Brca1
|
UTSW |
11 |
101,522,422 (GRCm38) |
unclassified |
probably benign |
|
|
R0048:Brca1
|
UTSW |
11 |
101,524,977 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0048:Brca1
|
UTSW |
11 |
101,524,977 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0109:Brca1
|
UTSW |
11 |
101,531,090 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0144:Brca1
|
UTSW |
11 |
101,526,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0336:Brca1
|
UTSW |
11 |
101,523,993 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0448:Brca1
|
UTSW |
11 |
101,508,221 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0595:Brca1
|
UTSW |
11 |
101,524,887 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0613:Brca1
|
UTSW |
11 |
101,508,210 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0863:Brca1
|
UTSW |
11 |
101,524,770 (GRCm38) |
missense |
probably benign |
0.36 |
|
R0940:Brca1
|
UTSW |
11 |
101,532,143 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0962:Brca1
|
UTSW |
11 |
101,525,366 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1365:Brca1
|
UTSW |
11 |
101,501,996 (GRCm38) |
missense |
probably benign |
|
|
R1391:Brca1
|
UTSW |
11 |
101,526,546 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1467:Brca1
|
UTSW |
11 |
101,531,107 (GRCm38) |
unclassified |
probably benign |
|
|
R1484:Brca1
|
UTSW |
11 |
101,529,812 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1530:Brca1
|
UTSW |
11 |
101,524,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1645:Brca1
|
UTSW |
11 |
101,510,053 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1682:Brca1
|
UTSW |
11 |
101,525,565 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1687:Brca1
|
UTSW |
11 |
101,489,840 (GRCm38) |
missense |
probably benign |
|
|
R1694:Brca1
|
UTSW |
11 |
101,532,099 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1695:Brca1
|
UTSW |
11 |
101,524,455 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1762:Brca1
|
UTSW |
11 |
101,532,018 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1868:Brca1
|
UTSW |
11 |
101,498,013 (GRCm38) |
missense |
probably benign |
|
|
R1973:Brca1
|
UTSW |
11 |
101,526,403 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2034:Brca1
|
UTSW |
11 |
101,489,849 (GRCm38) |
missense |
probably benign |
|
|
R2106:Brca1
|
UTSW |
11 |
101,524,977 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4089:Brca1
|
UTSW |
11 |
101,524,176 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4194:Brca1
|
UTSW |
11 |
101,525,287 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4571:Brca1
|
UTSW |
11 |
101,517,366 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4735:Brca1
|
UTSW |
11 |
101,492,175 (GRCm38) |
splice site |
probably null |
|
|
R4789:Brca1
|
UTSW |
11 |
101,523,932 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4920:Brca1
|
UTSW |
11 |
101,524,959 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4939:Brca1
|
UTSW |
11 |
101,508,050 (GRCm38) |
missense |
probably benign |
|
|
R4997:Brca1
|
UTSW |
11 |
101,524,333 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5458:Brca1
|
UTSW |
11 |
101,517,285 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5778:Brca1
|
UTSW |
11 |
101,525,301 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R6051:Brca1
|
UTSW |
11 |
101,524,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6505:Brca1
|
UTSW |
11 |
101,523,541 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6548:Brca1
|
UTSW |
11 |
101,524,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6971:Brca1
|
UTSW |
11 |
101,534,005 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7091:Brca1
|
UTSW |
11 |
101,526,427 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7246:Brca1
|
UTSW |
11 |
101,523,378 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7417:Brca1
|
UTSW |
11 |
101,524,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7861:Brca1
|
UTSW |
11 |
101,526,422 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7925:Brca1
|
UTSW |
11 |
101,508,146 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7932:Brca1
|
UTSW |
11 |
101,540,017 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8003:Brca1
|
UTSW |
11 |
101,524,477 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8046:Brca1
|
UTSW |
11 |
101,525,470 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8306:Brca1
|
UTSW |
11 |
101,525,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8483:Brca1
|
UTSW |
11 |
101,525,976 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8685:Brca1
|
UTSW |
11 |
101,489,846 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9072:Brca1
|
UTSW |
11 |
101,502,480 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9073:Brca1
|
UTSW |
11 |
101,502,480 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9486:Brca1
|
UTSW |
11 |
101,523,694 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9505:Brca1
|
UTSW |
11 |
101,512,766 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9616:Brca1
|
UTSW |
11 |
101,525,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAGCTTGAGATTGAACACAGAG -3'
(R):5'- TCAGTCAGCATGTAATGCAGTCCAC -3'
Sequencing Primer
(F):5'- GAGCTTGTAGAATTTATCCCAGATCC -3'
(R):5'- GCACTGTGACATTTTCAAGTGAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation