Incidental Mutation 'R4437:Bcar1'
| ID |
329580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcar1
|
| Ensembl Gene |
ENSMUSG00000031955 |
| Gene Name |
breast cancer anti-estrogen resistance 1 |
| Synonyms |
Cas, p130Cas, Crkas |
| MMRRC Submission |
041150-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4437 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
112437106-112470441 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112442021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 273
(T273M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166232]
[ENSMUST00000212349]
|
| AlphaFold |
Q61140 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166232
AA Change: T273M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129584
Gene: ENSMUSG00000031955
AA Change: T273M
| 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 |
noncoding transcript
Transcript: ENSMUST00000212147
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212349
AA Change: T273M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Arhgef16 |
A |
G |
4: 154,364,153 (GRCm39) |
|
probably null |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,965,300 (GRCm39) |
V1235A |
possibly damaging |
Het |
| Camsap1 |
G |
A |
2: 25,828,658 (GRCm39) |
T1022I |
possibly damaging |
Het |
| Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,256,387 (GRCm39) |
C1493* |
probably null |
Het |
| Cul9 |
A |
G |
17: 46,813,085 (GRCm39) |
L2378P |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,236 (GRCm39) |
I510V |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,761,824 (GRCm39) |
F163I |
probably damaging |
Het |
| Gm2381 |
A |
T |
7: 42,469,268 (GRCm39) |
H285Q |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,514 (GRCm39) |
Q161R |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igkv1-99 |
T |
G |
6: 68,519,318 (GRCm39) |
S91A |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,655,982 (GRCm39) |
L302P |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,519,972 (GRCm39) |
|
probably null |
Het |
| Myoc |
A |
G |
1: 162,476,681 (GRCm39) |
M462V |
possibly damaging |
Het |
| Nkx2-4 |
T |
C |
2: 146,926,179 (GRCm39) |
T228A |
possibly damaging |
Het |
| Npr1 |
T |
G |
3: 90,363,593 (GRCm39) |
D810A |
probably damaging |
Het |
| Or4a68 |
T |
G |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Or51a24 |
T |
C |
7: 103,734,128 (GRCm39) |
E53G |
possibly damaging |
Het |
| Pde4dip |
G |
A |
3: 97,673,885 (GRCm39) |
L344F |
possibly damaging |
Het |
| Pfas |
A |
G |
11: 68,879,243 (GRCm39) |
L1218P |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,318 (GRCm39) |
E79G |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
| Robo2 |
T |
C |
16: 73,770,132 (GRCm39) |
T531A |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,669,947 (GRCm39) |
I519N |
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 |
|
R4130:Bcar1
|
UTSW |
8 |
112,440,797 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4249:Bcar1
|
UTSW |
8 |
112,447,525 (GRCm39) |
missense |
probably benign |
|
|
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'- GCATTCATCTGTCCCTAGAGC -3'
(R):5'- CATTGGGGATCAGAGGCATG -3'
Sequencing Primer
(F):5'- TCATCTGTCCCTAGAGCAAGTAAGG -3'
(R):5'- CCTTGGCCTTGCTCTGGGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation