Incidental Mutation 'R7246:Brca1'
ID |
563557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
045309-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7246 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 101414204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1310
(T1310I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000191198]
|
AlphaFold |
P48754 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017290
AA Change: T1310I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: T1310I
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (74/76) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,635,902 (GRCm39) |
S318R |
probably damaging |
Het |
Abce1 |
A |
T |
8: 80,429,698 (GRCm39) |
N74K |
probably damaging |
Het |
Akr1b7 |
T |
A |
6: 34,392,404 (GRCm39) |
D72E |
probably benign |
Het |
Amer3 |
T |
A |
1: 34,625,809 (GRCm39) |
I16N |
possibly damaging |
Het |
Atp6v0d1 |
T |
C |
8: 106,257,606 (GRCm39) |
N108D |
probably damaging |
Het |
Avpr1b |
T |
C |
1: 131,528,008 (GRCm39) |
V177A |
probably damaging |
Het |
B020011L13Rik |
A |
T |
1: 117,728,969 (GRCm39) |
K159* |
probably null |
Het |
Bpifb1 |
T |
C |
2: 154,049,012 (GRCm39) |
L172P |
probably damaging |
Het |
C130074G19Rik |
C |
A |
1: 184,615,166 (GRCm39) |
R8L |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,242,811 (GRCm39) |
H268R |
possibly damaging |
Het |
Cdc42ep5 |
A |
G |
7: 4,154,473 (GRCm39) |
V105A |
possibly damaging |
Het |
Cntn4 |
T |
C |
6: 106,483,180 (GRCm39) |
L245P |
probably damaging |
Het |
Crtac1 |
T |
C |
19: 42,276,365 (GRCm39) |
E521G |
probably benign |
Het |
Cts7 |
T |
A |
13: 61,503,394 (GRCm39) |
N190I |
probably damaging |
Het |
Cul7 |
A |
G |
17: 46,972,993 (GRCm39) |
E1368G |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,666,266 (GRCm39) |
M89K |
possibly damaging |
Het |
Dpp10 |
G |
A |
1: 123,262,106 (GRCm39) |
P759S |
probably damaging |
Het |
Etf1 |
A |
G |
18: 35,064,964 (GRCm39) |
S11P |
unknown |
Het |
Exd2 |
G |
T |
12: 80,527,309 (GRCm39) |
L167F |
probably damaging |
Het |
Exoc8 |
T |
A |
8: 125,623,156 (GRCm39) |
R404* |
probably null |
Het |
Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,844,136 (GRCm39) |
|
|
Het |
Gtf3c1 |
T |
A |
7: 125,268,266 (GRCm39) |
|
|
Het |
Id2 |
T |
A |
12: 25,145,820 (GRCm39) |
I64F |
probably damaging |
Het |
Idh3a |
G |
T |
9: 54,499,756 (GRCm39) |
A75S |
probably damaging |
Het |
Ift70a2 |
A |
G |
2: 75,808,023 (GRCm39) |
L163P |
probably damaging |
Het |
Itgb8 |
C |
G |
12: 119,131,785 (GRCm39) |
G620A |
probably damaging |
Het |
Itih5 |
T |
A |
2: 10,191,873 (GRCm39) |
|
probably null |
Het |
Lamtor5 |
A |
T |
3: 107,189,336 (GRCm39) |
D124V |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,930,511 (GRCm39) |
E439G |
probably damaging |
Het |
Meltf |
T |
G |
16: 31,713,680 (GRCm39) |
L641R |
probably damaging |
Het |
Mesd |
G |
T |
7: 83,541,420 (GRCm39) |
|
probably benign |
Het |
Nfia |
C |
T |
4: 97,953,579 (GRCm39) |
P439L |
probably damaging |
Het |
Nptx1 |
A |
T |
11: 119,435,416 (GRCm39) |
|
probably null |
Het |
Or1o3 |
A |
T |
17: 37,573,905 (GRCm39) |
C217S |
probably benign |
Het |
Or2j6 |
T |
A |
7: 139,980,061 (GRCm39) |
R299S |
probably benign |
Het |
Or5t7 |
A |
G |
2: 86,507,633 (GRCm39) |
F15L |
probably benign |
Het |
Or7g29 |
G |
A |
9: 19,286,761 (GRCm39) |
Q139* |
probably null |
Het |
Pdss2 |
T |
A |
10: 43,248,172 (GRCm39) |
H225Q |
probably benign |
Het |
Pik3r5 |
C |
A |
11: 68,383,769 (GRCm39) |
S529R |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,326,590 (GRCm39) |
S175P |
possibly damaging |
Het |
Pom121l12 |
T |
A |
11: 14,549,551 (GRCm39) |
W86R |
probably benign |
Het |
Ppid |
C |
T |
3: 79,498,740 (GRCm39) |
|
probably benign |
Het |
Pramel7 |
T |
A |
2: 87,322,509 (GRCm39) |
D85V |
probably damaging |
Het |
Prune2 |
C |
T |
19: 17,098,732 (GRCm39) |
T1412I |
probably damaging |
Het |
Ptprd |
T |
C |
4: 76,046,913 (GRCm39) |
Y204C |
probably damaging |
Het |
Rasgrp1 |
G |
A |
2: 117,168,835 (GRCm39) |
R48* |
probably null |
Het |
Rbks |
A |
G |
5: 31,805,127 (GRCm39) |
S246P |
possibly damaging |
Het |
Rnf113a2 |
G |
T |
12: 84,464,451 (GRCm39) |
M114I |
possibly damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGCCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
Scara3 |
A |
G |
14: 66,169,093 (GRCm39) |
S175P |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,270,262 (GRCm39) |
L261Q |
probably damaging |
Het |
Sparcl1 |
T |
C |
5: 104,233,023 (GRCm39) |
I593V |
probably benign |
Het |
Suclg1 |
C |
T |
6: 73,253,696 (GRCm39) |
H115Y |
unknown |
Het |
Syde2 |
T |
A |
3: 145,694,510 (GRCm39) |
C253S |
probably benign |
Het |
Tecrl |
A |
T |
5: 83,427,182 (GRCm39) |
I322N |
probably damaging |
Het |
Tesmin |
C |
T |
19: 3,456,965 (GRCm39) |
A428V |
probably damaging |
Het |
Thbd |
T |
A |
2: 148,248,405 (GRCm39) |
T488S |
probably benign |
Het |
Tln2 |
A |
T |
9: 67,170,261 (GRCm39) |
V876E |
probably damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,172,910 (GRCm39) |
I1246K |
unknown |
Het |
Usp47 |
T |
A |
7: 111,715,116 (GRCm39) |
|
|
Het |
Vmn1r192 |
C |
T |
13: 22,371,944 (GRCm39) |
R92Q |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,767,695 (GRCm39) |
T601A |
probably damaging |
Het |
Vmn2r51 |
A |
G |
7: 9,836,428 (GRCm39) |
F118L |
probably benign |
Het |
Vmn2r74 |
T |
A |
7: 85,605,173 (GRCm39) |
I492L |
probably benign |
Het |
Vmn2r93 |
C |
T |
17: 18,546,012 (GRCm39) |
T628I |
possibly damaging |
Het |
Vps13d |
C |
T |
4: 144,882,620 (GRCm39) |
R991K |
|
Het |
Wdr5b |
T |
C |
16: 35,862,306 (GRCm39) |
S142P |
probably damaging |
Het |
Zfp428 |
G |
T |
7: 24,215,069 (GRCm39) |
|
probably null |
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 |
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'- TCTGTGTGGGCTACTTATACAC -3'
(R):5'- GCAGCATGTTCTCTTCACAG -3'
Sequencing Primer
(F):5'- TCCCCTGGAATTGAAGTGAC -3'
(R):5'- AGCATGTTCTCTTCACAGCACAG -3'
|
Posted On |
2019-06-26 |