Incidental Mutation 'R0930:Cars1'
| ID |
80761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cars1
|
| Ensembl Gene |
ENSMUSG00000010755 |
| Gene Name |
cysteinyl-tRNA synthetase 1 |
| Synonyms |
Cars, CA3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0930 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
143110967-143153827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143124307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 373
(H373L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010899]
[ENSMUST00000105909]
|
| AlphaFold |
Q9ER72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010899
AA Change: H456L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: H456L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1e
|
124 |
537 |
2.7e-128 |
PFAM |
|
Blast:DALR_2
|
584 |
644 |
2e-13 |
BLAST |
|
coiled coil region
|
728 |
768 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105909
AA Change: H373L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: H373L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1e
|
41 |
454 |
2e-129 |
PFAM |
|
Pfam:tRNA-synt_1g
|
387 |
465 |
1.2e-6 |
PFAM |
|
Blast:DALR_2
|
501 |
561 |
1e-13 |
BLAST |
|
coiled coil region
|
645 |
685 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184553
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]
|
| Allele List at MGI |
All alleles(37) : Targeted, other(2) Gene trapped(35)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
G |
T |
17: 84,990,705 (GRCm39) |
V16L |
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,432,028 (GRCm39) |
|
probably null |
Het |
| Agpat4 |
A |
T |
17: 12,417,723 (GRCm39) |
E88V |
probably damaging |
Het |
| Ahcyl2 |
A |
C |
6: 29,870,627 (GRCm39) |
|
probably null |
Het |
| Ankrd2 |
T |
A |
19: 42,032,292 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
A |
T |
11: 54,885,214 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
G |
2: 158,103,346 (GRCm39) |
I114V |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,652,857 (GRCm39) |
I772N |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,570,860 (GRCm39) |
N1045D |
possibly damaging |
Het |
| Caprin2 |
T |
C |
6: 148,785,009 (GRCm39) |
|
probably null |
Het |
| Ccdc191 |
G |
T |
16: 43,751,618 (GRCm39) |
G316V |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,404,801 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,267,835 (GRCm39) |
M102K |
probably damaging |
Het |
| Dact1 |
A |
G |
12: 71,365,234 (GRCm39) |
R672G |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,905,262 (GRCm39) |
F991L |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,185,645 (GRCm39) |
P1920L |
probably damaging |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Exosc4 |
A |
G |
15: 76,211,734 (GRCm39) |
I14M |
probably benign |
Het |
| Ezr |
G |
A |
17: 7,021,398 (GRCm39) |
R180* |
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,839,555 (GRCm39) |
Y456F |
probably damaging |
Het |
| Fyb1 |
A |
T |
15: 6,668,309 (GRCm39) |
I501F |
probably damaging |
Het |
| Hdac5 |
G |
T |
11: 102,095,472 (GRCm39) |
P383Q |
probably benign |
Het |
| Hmx3 |
A |
T |
7: 131,144,813 (GRCm39) |
H41L |
probably benign |
Het |
| Krt36 |
A |
G |
11: 99,994,225 (GRCm39) |
F284S |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,862 (GRCm39) |
N686D |
probably damaging |
Het |
| Lsamp |
G |
A |
16: 41,709,327 (GRCm39) |
G86S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,196,824 (GRCm39) |
E1819G |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,747,463 (GRCm39) |
I129N |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,384,593 (GRCm39) |
C114S |
probably benign |
Het |
| Nphp4 |
T |
G |
4: 152,622,512 (GRCm39) |
L599R |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,596,667 (GRCm39) |
I301V |
probably benign |
Het |
| Or6b2b |
A |
G |
1: 92,419,127 (GRCm39) |
S117P |
possibly damaging |
Het |
| Os9 |
C |
T |
10: 126,932,924 (GRCm39) |
R547Q |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,466,598 (GRCm39) |
|
probably null |
Het |
| Pgm2 |
A |
T |
5: 64,269,490 (GRCm39) |
I526F |
possibly damaging |
Het |
| Plekho2 |
T |
C |
9: 65,464,105 (GRCm39) |
D248G |
possibly damaging |
Het |
| Rab43 |
A |
T |
6: 87,769,752 (GRCm39) |
Y151* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,264,269 (GRCm39) |
E343G |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,439 (GRCm39) |
D531E |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,704,291 (GRCm39) |
V262E |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,672,178 (GRCm39) |
L1431P |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,729,271 (GRCm39) |
I1102T |
probably benign |
Het |
| Sema3d |
A |
C |
5: 12,513,183 (GRCm39) |
D51A |
possibly damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,787,775 (GRCm39) |
F294I |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,367,171 (GRCm39) |
T453A |
probably benign |
Het |
| Sod1 |
A |
G |
16: 90,022,071 (GRCm39) |
D93G |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,906,040 (GRCm39) |
N1662S |
probably damaging |
Het |
| Stxbp4 |
A |
C |
11: 90,512,526 (GRCm39) |
M1R |
probably null |
Het |
| Tbc1d7 |
A |
T |
13: 43,318,812 (GRCm39) |
Y108* |
probably null |
Het |
| Ticam1 |
A |
T |
17: 56,577,226 (GRCm39) |
V623D |
unknown |
Het |
| Ticam1 |
A |
G |
17: 56,578,687 (GRCm39) |
L136P |
probably damaging |
Het |
| Tjap1 |
A |
C |
17: 46,569,455 (GRCm39) |
W512G |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,549,800 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Wdr45b |
A |
T |
11: 121,221,040 (GRCm39) |
F213I |
probably damaging |
Het |
| Xdh |
A |
C |
17: 74,230,077 (GRCm39) |
W285G |
probably benign |
Het |
| Zfp646 |
C |
T |
7: 127,482,982 (GRCm39) |
Q1500* |
probably null |
Het |
|
| Other mutations in Cars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01155:Cars1
|
APN |
7 |
143,123,586 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02192:Cars1
|
APN |
7 |
143,125,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Cars1
|
APN |
7 |
143,111,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02807:Cars1
|
APN |
7 |
143,123,209 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02860:Cars1
|
APN |
7 |
143,140,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03005:Cars1
|
APN |
7 |
143,112,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Vroom
|
UTSW |
7 |
143,124,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Zoom
|
UTSW |
7 |
143,146,362 (GRCm39) |
nonsense |
probably null |
|
|
BB001:Cars1
|
UTSW |
7 |
143,123,608 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
BB011:Cars1
|
UTSW |
7 |
143,123,608 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
F5493:Cars1
|
UTSW |
7 |
143,123,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Cars1
|
UTSW |
7 |
143,142,219 (GRCm39) |
splice site |
probably benign |
|
|
R0452:Cars1
|
UTSW |
7 |
143,146,362 (GRCm39) |
nonsense |
probably null |
|
|
R0717:Cars1
|
UTSW |
7 |
143,138,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1069:Cars1
|
UTSW |
7 |
143,123,844 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1184:Cars1
|
UTSW |
7 |
143,140,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Cars1
|
UTSW |
7 |
143,122,726 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1755:Cars1
|
UTSW |
7 |
143,123,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Cars1
|
UTSW |
7 |
143,130,385 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2084:Cars1
|
UTSW |
7 |
143,140,919 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2132:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Cars1
|
UTSW |
7 |
143,146,244 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4012:Cars1
|
UTSW |
7 |
143,113,411 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4057:Cars1
|
UTSW |
7 |
143,124,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4082:Cars1
|
UTSW |
7 |
143,123,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Cars1
|
UTSW |
7 |
143,113,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4527:Cars1
|
UTSW |
7 |
143,118,786 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4663:Cars1
|
UTSW |
7 |
143,129,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cars1
|
UTSW |
7 |
143,125,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4820:Cars1
|
UTSW |
7 |
143,124,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Cars1
|
UTSW |
7 |
143,123,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Cars1
|
UTSW |
7 |
143,123,587 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5512:Cars1
|
UTSW |
7 |
143,123,870 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6505:Cars1
|
UTSW |
7 |
143,118,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7125:Cars1
|
UTSW |
7 |
143,138,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7641:Cars1
|
UTSW |
7 |
143,140,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7674:Cars1
|
UTSW |
7 |
143,140,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7812:Cars1
|
UTSW |
7 |
143,123,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Cars1
|
UTSW |
7 |
143,123,608 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8260:Cars1
|
UTSW |
7 |
143,139,446 (GRCm39) |
missense |
probably benign |
|
|
R8447:Cars1
|
UTSW |
7 |
143,123,766 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8905:Cars1
|
UTSW |
7 |
143,140,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Cars1
|
UTSW |
7 |
143,129,654 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9240:Cars1
|
UTSW |
7 |
143,138,533 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9441:Cars1
|
UTSW |
7 |
143,123,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9566:Cars1
|
UTSW |
7 |
143,113,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9603:Cars1
|
UTSW |
7 |
143,112,929 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0021:Cars1
|
UTSW |
7 |
143,130,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGCTTGAACCTAAGCCTGCC -3'
(R):5'- TTCGAGACTCTAGCTCAGCCACAG -3'
Sequencing Primer
(F):5'- CCTAAGCCTGCCTATTAGTGAAGG -3'
(R):5'- GAGGCATAAAGGTCATTTGCTTCAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation