Incidental Mutation 'R1530:Brca1'
| ID |
166568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| MMRRC Submission |
039569-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1530 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101488764-101551955 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101524695 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 871
(D871G)
|
| 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: D871G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: D871G
| 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 damaging
Transcript: ENSMUST00000191198
AA Change: D55G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139737
Gene: ENSMUSG00000017146
AA Change: D55G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EIN3
|
1 |
146 |
3.5e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
T |
C |
5: 137,569,378 (GRCm38) |
C425R |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,349,830 (GRCm38) |
S20P |
probably damaging |
Het |
| Adgra3 |
G |
A |
5: 49,961,137 (GRCm38) |
T1023I |
probably benign |
Het |
| Angel2 |
T |
A |
1: 190,939,088 (GRCm38) |
V46E |
probably damaging |
Het |
| Ankrd13c |
T |
A |
3: 157,991,721 (GRCm38) |
M321K |
probably damaging |
Het |
| Atad2b |
C |
T |
12: 4,942,018 (GRCm38) |
R206* |
probably null |
Het |
| Atp10b |
T |
A |
11: 43,197,524 (GRCm38) |
F319Y |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,400,104 (GRCm38) |
R272G |
probably damaging |
Het |
| BC027072 |
A |
G |
17: 71,749,478 (GRCm38) |
V1068A |
probably benign |
Het |
| Bpi |
T |
A |
2: 158,261,145 (GRCm38) |
I70N |
probably damaging |
Het |
| Capn3 |
G |
A |
2: 120,482,208 (GRCm38) |
A160T |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 135,246,902 (GRCm38) |
L1451P |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,732,488 (GRCm38) |
M1T |
probably null |
Het |
| Csrnp1 |
G |
C |
9: 119,973,546 (GRCm38) |
Q200E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,819,874 (GRCm38) |
P545S |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,646,543 (GRCm38) |
E107G |
probably benign |
Het |
| Errfi1 |
A |
G |
4: 150,865,386 (GRCm38) |
I49V |
probably benign |
Het |
| Fam160b1 |
T |
A |
19: 57,386,305 (GRCm38) |
I704N |
probably damaging |
Het |
| Fam171b |
T |
C |
2: 83,880,189 (GRCm38) |
L735S |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,092,490 (GRCm38) |
|
probably null |
Het |
| Fbp2 |
G |
C |
13: 62,837,159 (GRCm38) |
P316R |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,682,976 (GRCm38) |
G255V |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,605,308 (GRCm38) |
S193P |
probably benign |
Het |
| Gak |
A |
G |
5: 108,624,193 (GRCm38) |
V86A |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,433,769 (GRCm38) |
I7T |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,327,489 (GRCm38) |
H331R |
probably damaging |
Het |
| Gpr19 |
C |
T |
6: 134,869,998 (GRCm38) |
V241M |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,458,799 (GRCm38) |
A437T |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,444,780 (GRCm38) |
D253G |
probably damaging |
Het |
| Ifna9 |
G |
C |
4: 88,592,172 (GRCm38) |
Q72E |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,312,361 (GRCm38) |
T384A |
probably benign |
Het |
| Ip6k1 |
C |
A |
9: 108,045,562 (GRCm38) |
C221* |
probably null |
Het |
| Kcna1 |
C |
A |
6: 126,642,531 (GRCm38) |
E275D |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,484,232 (GRCm38) |
Q468* |
probably null |
Het |
| Kin |
T |
C |
2: 10,092,339 (GRCm38) |
V333A |
probably damaging |
Het |
| Leprot |
G |
T |
4: 101,656,287 (GRCm38) |
V91L |
probably benign |
Het |
| Mettl21c |
A |
G |
1: 44,017,184 (GRCm38) |
|
probably null |
Het |
| Myom2 |
T |
C |
8: 15,122,384 (GRCm38) |
F1161S |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,248,909 (GRCm38) |
L321P |
probably benign |
Het |
| Nipal2 |
A |
T |
15: 34,625,022 (GRCm38) |
*72K |
probably null |
Het |
| Nol3 |
T |
C |
8: 105,279,226 (GRCm38) |
V84A |
probably benign |
Het |
| Olfr1188 |
A |
T |
2: 88,559,483 (GRCm38) |
I5F |
probably benign |
Het |
| Olfr1388 |
C |
T |
11: 49,443,905 (GRCm38) |
S18L |
probably benign |
Het |
| Olfr901 |
T |
C |
9: 38,430,324 (GRCm38) |
I14T |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,189,010 (GRCm38) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 99,053,973 (GRCm38) |
D802G |
probably damaging |
Het |
| Plac8l1 |
A |
T |
18: 42,178,931 (GRCm38) |
V141E |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,167,192 (GRCm38) |
S275P |
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,243,865 (GRCm38) |
A53T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,661,183 (GRCm38) |
I959K |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,495,562 (GRCm38) |
K1400R |
probably damaging |
Het |
| Sel1l |
A |
G |
12: 91,826,684 (GRCm38) |
S263P |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,109,913 (GRCm38) |
V34I |
probably damaging |
Het |
| Slc17a2 |
A |
G |
13: 23,819,069 (GRCm38) |
D234G |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,015,671 (GRCm38) |
S934T |
probably damaging |
Het |
| St18 |
A |
C |
1: 6,845,569 (GRCm38) |
|
probably null |
Het |
| St3gal4 |
T |
C |
9: 35,052,296 (GRCm38) |
I239V |
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,297,412 (GRCm38) |
T399I |
probably damaging |
Het |
| Syt11 |
T |
C |
3: 88,762,367 (GRCm38) |
K6E |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,487,296 (GRCm38) |
Y121H |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,496,055 (GRCm38) |
Y113C |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,410,688 (GRCm38) |
W406R |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 130,151,282 (GRCm38) |
I563V |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,827,009 (GRCm38) |
|
probably null |
Het |
| Tmub2 |
T |
C |
11: 102,287,486 (GRCm38) |
S72P |
probably benign |
Het |
| Trappc13 |
G |
A |
13: 104,150,143 (GRCm38) |
T202I |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,272,428 (GRCm38) |
E449G |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,912,767 (GRCm38) |
G21V |
unknown |
Het |
| Ttll12 |
G |
A |
15: 83,588,655 (GRCm38) |
R127C |
probably damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,351,152 (GRCm38) |
Y275F |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,329,944 (GRCm38) |
D319G |
probably damaging |
Het |
| Zc3h14 |
T |
G |
12: 98,785,003 (GRCm38) |
C159W |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,777,088 (GRCm38) |
P376L |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 108,948,489 (GRCm38) |
P2057L |
probably 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 |
|
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 |
|
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'- CCCCGCTTCTGTAATGAGATGATGG -3'
(R):5'- CAGTTTGTAGCAAGCGAAAACCCC -3'
Sequencing Primer
(F):5'- TCTATCACACATTGTATCAGCAGC -3'
(R):5'- CATGGCTCTAACAATGCTGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation