Incidental Mutation 'R4130:Bcar1'
ID |
315508 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bcar1
|
Ensembl Gene |
ENSMUSG00000031955 |
Gene Name |
breast cancer anti-estrogen resistance 1 |
Synonyms |
Cas, p130Cas, Crkas |
MMRRC Submission |
041636-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4130 (G1)
|
Quality Score |
204 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
112437106-112470441 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112440797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 399
(L399P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166232]
[ENSMUST00000212349]
|
AlphaFold |
Q61140 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166232
AA Change: L399P
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000129584 Gene: ENSMUSG00000031955 AA Change: L399P
Domain | Start | End | E-Value | Type |
SH3
|
6 |
64 |
3e-20 |
SMART |
low complexity region
|
71 |
92 |
N/A |
INTRINSIC |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
353 |
388 |
N/A |
INTRINSIC |
low complexity region
|
430 |
448 |
N/A |
INTRINSIC |
Pfam:Serine_rich
|
458 |
612 |
9e-49 |
PFAM |
Pfam:DUF3513
|
658 |
868 |
2.1e-78 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212349
AA Change: L399P
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.0878 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (29/29) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM, May 2009] PHENOTYPE: Homozygous null embryos exhibit growth retardation and embryonic lethality, following disruption of cardiac myofibrils, increased vasodilation, and systemic congestion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021A07Rik |
T |
C |
10: 21,301,441 (GRCm39) |
|
noncoding transcript |
Het |
A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
Cytl1 |
T |
C |
5: 37,892,985 (GRCm39) |
S32P |
probably damaging |
Het |
Eif4e1b |
C |
T |
13: 54,935,130 (GRCm39) |
T219M |
probably benign |
Het |
F10 |
A |
G |
8: 13,105,584 (GRCm39) |
D383G |
possibly damaging |
Het |
Gm37267 |
T |
G |
1: 180,336,643 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
G |
A |
2: 32,178,178 (GRCm39) |
R29H |
probably benign |
Het |
Gpd1 |
A |
T |
15: 99,617,158 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
G |
A |
15: 91,639,997 (GRCm39) |
R1514Q |
probably benign |
Het |
Map1b |
T |
C |
13: 99,568,188 (GRCm39) |
E1511G |
unknown |
Het |
Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
Or13n4 |
C |
T |
7: 106,422,792 (GRCm39) |
G314S |
probably benign |
Het |
Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
Pramel29 |
T |
A |
4: 143,935,379 (GRCm39) |
I121F |
probably damaging |
Het |
Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,373,832 (GRCm39) |
S4972P |
probably damaging |
Het |
Skap1 |
A |
G |
11: 96,416,871 (GRCm39) |
Y52C |
probably damaging |
Het |
Sphkap |
T |
C |
1: 83,255,619 (GRCm39) |
N710S |
probably damaging |
Het |
Tedc1 |
T |
A |
12: 113,126,828 (GRCm39) |
D363E |
probably benign |
Het |
Vmn2r44 |
T |
A |
7: 8,370,918 (GRCm39) |
Q709H |
probably damaging |
Het |
Wdr5 |
G |
T |
2: 27,410,441 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Bcar1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02220:Bcar1
|
APN |
8 |
112,437,839 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02852:Bcar1
|
APN |
8 |
112,441,979 (GRCm39) |
nonsense |
probably null |
|
R1914:Bcar1
|
UTSW |
8 |
112,442,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R1915:Bcar1
|
UTSW |
8 |
112,442,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R4249:Bcar1
|
UTSW |
8 |
112,447,525 (GRCm39) |
missense |
probably benign |
|
R4437:Bcar1
|
UTSW |
8 |
112,442,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R4794:Bcar1
|
UTSW |
8 |
112,447,552 (GRCm39) |
nonsense |
probably null |
|
R4937:Bcar1
|
UTSW |
8 |
112,447,669 (GRCm39) |
missense |
probably damaging |
0.98 |
R5402:Bcar1
|
UTSW |
8 |
112,440,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R5951:Bcar1
|
UTSW |
8 |
112,440,032 (GRCm39) |
missense |
probably benign |
0.02 |
R6443:Bcar1
|
UTSW |
8 |
112,441,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R7595:Bcar1
|
UTSW |
8 |
112,447,625 (GRCm39) |
missense |
probably benign |
0.01 |
R8313:Bcar1
|
UTSW |
8 |
112,440,270 (GRCm39) |
missense |
probably benign |
0.01 |
R8373:Bcar1
|
UTSW |
8 |
112,442,370 (GRCm39) |
nonsense |
probably null |
|
R9037:Bcar1
|
UTSW |
8 |
112,447,522 (GRCm39) |
missense |
probably benign |
0.10 |
R9205:Bcar1
|
UTSW |
8 |
112,442,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R9602:Bcar1
|
UTSW |
8 |
112,440,498 (GRCm39) |
missense |
probably benign |
0.22 |
RF025:Bcar1
|
UTSW |
8 |
112,440,809 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTTGGCATGCAAGGTG -3'
(R):5'- AAGCCCAAGCCCTTTGATCC -3'
Sequencing Primer
(F):5'- GTGGCATTGCTCACAGCTC -3'
(R):5'- AAGCCCTTTGATCCCACCCG -3'
|
Posted On |
2015-05-14 |