Incidental Mutation 'R6505:Brca1'
ID |
523781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
044637-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6505 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 101414367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1256
(M1256L)
|
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: M1256L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: M1256L
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 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (84/84) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
A |
T |
17: 9,220,772 (GRCm39) |
I424L |
probably benign |
Het |
2610028H24Rik |
C |
T |
10: 76,285,115 (GRCm39) |
A8V |
probably benign |
Het |
Ago1 |
G |
A |
4: 126,357,628 (GRCm39) |
P16S |
probably benign |
Het |
Ak5 |
C |
T |
3: 152,187,306 (GRCm39) |
E394K |
probably benign |
Het |
Aldh7a1 |
T |
C |
18: 56,660,068 (GRCm39) |
Y498C |
probably damaging |
Het |
Alox12 |
T |
A |
11: 70,141,030 (GRCm39) |
D335V |
probably damaging |
Het |
Alx4 |
A |
T |
2: 93,498,904 (GRCm39) |
Y212F |
probably damaging |
Het |
Asb16 |
A |
G |
11: 102,167,303 (GRCm39) |
E223G |
probably damaging |
Het |
Atg9b |
C |
T |
5: 24,595,575 (GRCm39) |
V235M |
probably damaging |
Het |
BB014433 |
A |
G |
8: 15,092,304 (GRCm39) |
V183A |
probably benign |
Het |
Bst1 |
A |
G |
5: 43,977,932 (GRCm39) |
I94V |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,599 (GRCm39) |
L206P |
probably benign |
Het |
Cabs1 |
T |
A |
5: 88,128,522 (GRCm39) |
M391K |
possibly damaging |
Het |
Cars1 |
C |
T |
7: 143,118,744 (GRCm39) |
R599Q |
probably damaging |
Het |
Ccdc190 |
T |
A |
1: 169,760,592 (GRCm39) |
Y73* |
probably null |
Het |
Cd177 |
A |
C |
7: 24,443,671 (GRCm39) |
L809W |
probably benign |
Het |
Cemip |
C |
A |
7: 83,600,805 (GRCm39) |
G939* |
probably null |
Het |
Clca3b |
T |
A |
3: 144,531,020 (GRCm39) |
I777F |
probably benign |
Het |
Cma2 |
T |
C |
14: 56,211,236 (GRCm39) |
I176T |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,554,887 (GRCm39) |
T2064S |
probably damaging |
Het |
Csf1r |
A |
G |
18: 61,262,805 (GRCm39) |
N860S |
probably damaging |
Het |
Dab1 |
T |
A |
4: 104,369,461 (GRCm39) |
C3S |
probably benign |
Het |
Dennd4b |
A |
G |
3: 90,174,918 (GRCm39) |
E50G |
probably damaging |
Het |
Dis3l |
A |
T |
9: 64,214,795 (GRCm39) |
S925T |
probably benign |
Het |
Disp1 |
T |
C |
1: 182,868,076 (GRCm39) |
N1448S |
probably benign |
Het |
Dpp10 |
T |
C |
1: 123,264,580 (GRCm39) |
I747M |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Ephx4 |
A |
T |
5: 107,551,522 (GRCm39) |
K36* |
probably null |
Het |
Fam135a |
C |
T |
1: 24,053,953 (GRCm39) |
V1195I |
probably damaging |
Het |
Fap |
A |
T |
2: 62,376,947 (GRCm39) |
Y234* |
probably null |
Het |
Fem1c |
A |
T |
18: 46,638,942 (GRCm39) |
N353K |
possibly damaging |
Het |
Furin |
C |
A |
7: 80,043,365 (GRCm39) |
R282L |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm5930 |
A |
G |
14: 44,568,828 (GRCm39) |
*265Q |
probably null |
Het |
Hcrtr1 |
T |
A |
4: 130,031,379 (GRCm39) |
T15S |
probably benign |
Het |
Ifnar1 |
C |
T |
16: 91,296,425 (GRCm39) |
Q309* |
probably null |
Het |
Il18r1 |
A |
T |
1: 40,528,867 (GRCm39) |
I304L |
probably benign |
Het |
Ino80 |
A |
T |
2: 119,281,922 (GRCm39) |
Y185N |
probably damaging |
Het |
Itgb2 |
G |
A |
10: 77,395,507 (GRCm39) |
C536Y |
probably damaging |
Het |
Ivns1abp |
T |
C |
1: 151,236,744 (GRCm39) |
M435T |
probably benign |
Het |
Kcnh4 |
T |
C |
11: 100,647,911 (GRCm39) |
N151D |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,628,405 (GRCm39) |
M1499T |
probably benign |
Het |
Lamb1 |
A |
T |
12: 31,373,461 (GRCm39) |
T1397S |
possibly damaging |
Het |
Leng1 |
G |
A |
7: 3,664,211 (GRCm39) |
R239* |
probably null |
Het |
Map2k4 |
A |
T |
11: 65,584,355 (GRCm39) |
N309K |
possibly damaging |
Het |
Mcm3 |
A |
G |
1: 20,873,768 (GRCm39) |
F784S |
probably damaging |
Het |
Mrgpra9 |
T |
A |
7: 46,884,884 (GRCm39) |
N260I |
probably benign |
Het |
Mrnip |
C |
A |
11: 50,090,679 (GRCm39) |
T281N |
possibly damaging |
Het |
Myo9b |
A |
G |
8: 71,808,501 (GRCm39) |
T1715A |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,269,184 (GRCm39) |
I406T |
possibly damaging |
Het |
Neto1 |
A |
G |
18: 86,516,699 (GRCm39) |
T339A |
possibly damaging |
Het |
Ntn1 |
T |
C |
11: 68,104,025 (GRCm39) |
D541G |
probably damaging |
Het |
Nuak2 |
C |
A |
1: 132,244,132 (GRCm39) |
H55Q |
probably damaging |
Het |
Nufip2 |
A |
G |
11: 77,582,439 (GRCm39) |
T118A |
probably benign |
Het |
Or11i1 |
T |
G |
3: 106,729,638 (GRCm39) |
N79T |
possibly damaging |
Het |
Or12e7 |
T |
A |
2: 87,288,271 (GRCm39) |
V254E |
probably damaging |
Het |
Or51af1 |
T |
A |
7: 103,141,858 (GRCm39) |
T76S |
probably damaging |
Het |
Or52e19 |
C |
A |
7: 102,959,000 (GRCm39) |
A24D |
probably benign |
Het |
Or5d16 |
A |
T |
2: 87,773,518 (GRCm39) |
Y151* |
probably null |
Het |
Or5p59 |
T |
C |
7: 107,702,774 (GRCm39) |
V86A |
probably benign |
Het |
Or6d13 |
C |
T |
6: 116,517,561 (GRCm39) |
T49M |
probably benign |
Het |
Or7a40 |
A |
T |
16: 16,491,784 (GRCm39) |
D20E |
probably benign |
Het |
Or7g29 |
T |
C |
9: 19,286,237 (GRCm39) |
*313W |
probably null |
Het |
Pcdhb5 |
T |
A |
18: 37,453,933 (GRCm39) |
H104Q |
probably benign |
Het |
Phf11a |
T |
C |
14: 59,514,986 (GRCm39) |
R232G |
probably damaging |
Het |
Pik3r5 |
C |
T |
11: 68,383,615 (GRCm39) |
T478I |
probably benign |
Het |
Prkacb |
T |
A |
3: 146,438,401 (GRCm39) |
E380V |
probably damaging |
Het |
Prl7c1 |
G |
T |
13: 27,957,776 (GRCm39) |
D221E |
probably damaging |
Het |
Prr11 |
T |
A |
11: 86,996,950 (GRCm39) |
K5* |
probably null |
Het |
Prrc2b |
G |
A |
2: 32,112,332 (GRCm39) |
G1932D |
probably damaging |
Het |
Rexo1 |
A |
T |
10: 80,378,845 (GRCm39) |
Y1064N |
possibly damaging |
Het |
Rnf182 |
C |
T |
13: 43,822,147 (GRCm39) |
Q233* |
probably null |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Sash1 |
C |
G |
10: 8,605,291 (GRCm39) |
G1033A |
probably benign |
Het |
Sncaip |
C |
A |
18: 53,039,609 (GRCm39) |
S189* |
probably null |
Het |
Sorl1 |
T |
C |
9: 41,982,530 (GRCm39) |
Y350C |
probably damaging |
Het |
Speg |
T |
C |
1: 75,383,328 (GRCm39) |
V1141A |
possibly damaging |
Het |
Speg |
C |
A |
1: 75,406,167 (GRCm39) |
D3091E |
possibly damaging |
Het |
Sucnr1 |
A |
T |
3: 59,994,144 (GRCm39) |
D224V |
probably benign |
Het |
Tg |
G |
A |
15: 66,631,407 (GRCm39) |
A559T |
probably damaging |
Het |
Tmem132d |
A |
G |
5: 127,861,502 (GRCm39) |
I873T |
probably benign |
Het |
Tmem229a |
C |
T |
6: 24,954,920 (GRCm39) |
C278Y |
probably damaging |
Het |
Togaram1 |
T |
C |
12: 65,013,364 (GRCm39) |
I205T |
possibly damaging |
Het |
Usp19 |
T |
A |
9: 108,374,082 (GRCm39) |
L713Q |
probably damaging |
Het |
Vsig10 |
A |
G |
5: 117,489,824 (GRCm39) |
D530G |
possibly damaging |
Het |
Zfp106 |
A |
G |
2: 120,364,983 (GRCm39) |
S475P |
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 |
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 |
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'- ATCCTCTTCTAGGCAAGTTGC -3'
(R):5'- AAGAGAGCGACTCCACTGAG -3'
Sequencing Primer
(F):5'- GCAAGTTGCCATTTCCTCG -3'
(R):5'- CACTGAGGATGAAGATCTTCCCTG -3'
|
Posted On |
2018-06-22 |