Incidental Mutation 'R8373:Bcar1'
| ID |
646543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcar1
|
| Ensembl Gene |
ENSMUSG00000031955 |
| Gene Name |
breast cancer anti-estrogen resistance 1 |
| Synonyms |
Cas, p130Cas, Crkas |
| MMRRC Submission |
067741-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
112437106-112470441 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 112442370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 228
(Y228*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166232]
[ENSMUST00000212349]
|
| AlphaFold |
Q61140 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000166232
AA Change: Y228*
|
| SMART Domains |
Protein: ENSMUSP00000129584
Gene: ENSMUSG00000031955
AA Change: Y228*
| 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 |
probably null
Transcript: ENSMUST00000212349
AA Change: Y228*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
C |
10: 14,343,078 (GRCm39) |
T290A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,291,094 (GRCm39) |
Q685* |
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,823,816 (GRCm39) |
M150T |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,203,731 (GRCm39) |
Y65C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,409,152 (GRCm39) |
V222A |
probably benign |
Het |
| Cct2 |
T |
C |
10: 116,896,729 (GRCm39) |
D158G |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,491,997 (GRCm39) |
C426S |
possibly damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,671 (GRCm39) |
L297M |
possibly damaging |
Het |
| Dpp10 |
A |
G |
1: 123,781,958 (GRCm39) |
S74P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,716 (GRCm39) |
Y98H |
possibly damaging |
Het |
| Epn3 |
T |
G |
11: 94,383,762 (GRCm39) |
D296A |
probably damaging |
Het |
| Eri2 |
A |
C |
7: 119,371,820 (GRCm39) |
I252S |
probably benign |
Het |
| Gp9 |
C |
T |
6: 87,755,994 (GRCm39) |
T3I |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,432 (GRCm39) |
V55E |
|
Het |
| Kif3c |
G |
T |
12: 3,416,089 (GRCm39) |
V37L |
probably benign |
Het |
| Lct |
A |
T |
1: 128,231,577 (GRCm39) |
N757K |
probably damaging |
Het |
| Lhx8 |
A |
C |
3: 154,030,295 (GRCm39) |
N112K |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,025,872 (GRCm39) |
S373R |
possibly damaging |
Het |
| Mettl4 |
G |
A |
17: 95,041,077 (GRCm39) |
T359I |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,444,096 (GRCm39) |
S109P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,954,032 (GRCm39) |
V840A |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,898,893 (GRCm39) |
L571Q |
probably damaging |
Het |
| Or13a18 |
A |
T |
7: 140,190,208 (GRCm39) |
Y35F |
possibly damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,280 (GRCm39) |
F103S |
probably damaging |
Het |
| Phgdh |
G |
A |
3: 98,228,561 (GRCm39) |
T204I |
probably damaging |
Het |
| Pla2g4d |
C |
T |
2: 120,107,980 (GRCm39) |
V310M |
probably null |
Het |
| Prss3b |
T |
G |
6: 41,008,622 (GRCm39) |
T231P |
possibly damaging |
Het |
| Psmd12 |
C |
T |
11: 107,388,450 (GRCm39) |
P421L |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,688,982 (GRCm39) |
Y432H |
probably damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
| Rilpl2 |
C |
A |
5: 124,616,097 (GRCm39) |
A18S |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,512,815 (GRCm39) |
R88G |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,660,059 (GRCm39) |
K85E |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,773,488 (GRCm39) |
S49R |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 128,880,091 (GRCm39) |
I612F |
|
Het |
| Wdr48 |
A |
G |
9: 119,734,560 (GRCm39) |
T160A |
probably damaging |
Het |
| Zfp704 |
G |
A |
3: 9,674,502 (GRCm39) |
T93M |
unknown |
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 |
|
|
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 |
|
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'- TAGGCTGAGAAAATGCAGCTCC -3'
(R):5'- GCATTTCACTGCAGAAAAGGAG -3'
Sequencing Primer
(F):5'- CTGAGAAAATGCAGCTCCCAGAG -3'
(R):5'- TTCACTGCAGAAAAGGAGCTCCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation