Incidental Mutation 'R0358:Cars1'
ID |
29942 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cars1
|
Ensembl Gene |
ENSMUSG00000010755 |
Gene Name |
cysteinyl-tRNA synthetase 1 |
Synonyms |
Cars, CA3 |
MMRRC Submission |
038564-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0358 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
143110967-143153827 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 143142219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010899]
[ENSMUST00000105909]
[ENSMUST00000154022]
|
AlphaFold |
Q9ER72 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010899
|
SMART Domains |
Protein: ENSMUSP00000010899 Gene: ENSMUSG00000010755
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 benign
Transcript: ENSMUST00000105909
|
SMART Domains |
Protein: ENSMUSP00000101529 Gene: ENSMUSG00000010755
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: ENSMUST00000134128
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151574
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154022
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.5%
|
Validation Efficiency |
100% (64/64) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
G |
A |
17: 79,935,585 (GRCm39) |
|
probably benign |
Het |
Abca16 |
A |
T |
7: 120,143,939 (GRCm39) |
K1651N |
probably benign |
Het |
Abcb1b |
T |
C |
5: 8,871,423 (GRCm39) |
S326P |
probably benign |
Het |
Ache |
A |
G |
5: 137,288,635 (GRCm39) |
T114A |
probably benign |
Het |
Akap3 |
T |
A |
6: 126,843,775 (GRCm39) |
V798D |
probably damaging |
Het |
Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
Aqp4 |
T |
C |
18: 15,531,302 (GRCm39) |
N153S |
probably benign |
Het |
Arhgap23 |
G |
A |
11: 97,354,414 (GRCm39) |
V265M |
probably damaging |
Het |
Arhgef25 |
A |
T |
10: 127,020,322 (GRCm39) |
M326K |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,334,961 (GRCm39) |
|
probably benign |
Het |
Cep83 |
A |
T |
10: 94,555,593 (GRCm39) |
M96L |
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,231,449 (GRCm39) |
|
probably benign |
Het |
Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
Cul7 |
G |
A |
17: 46,974,670 (GRCm39) |
|
probably null |
Het |
Dhrs2 |
G |
A |
14: 55,473,574 (GRCm39) |
V78M |
probably damaging |
Het |
Dhx38 |
A |
T |
8: 110,279,094 (GRCm39) |
D1051E |
probably benign |
Het |
Eftud2 |
A |
G |
11: 102,755,627 (GRCm39) |
|
probably benign |
Het |
Egln3 |
T |
C |
12: 54,250,082 (GRCm39) |
E89G |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,294,410 (GRCm39) |
|
probably null |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,813,677 (GRCm39) |
N3332I |
possibly damaging |
Het |
Gbp2b |
A |
T |
3: 142,312,550 (GRCm39) |
E311V |
probably damaging |
Het |
Gcnt2 |
G |
T |
13: 41,014,329 (GRCm39) |
A167S |
probably damaging |
Het |
Gm9797 |
A |
T |
10: 11,485,088 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch3 |
A |
G |
4: 133,305,215 (GRCm39) |
|
probably null |
Het |
Gpr22 |
T |
C |
12: 31,759,981 (GRCm39) |
N47S |
probably benign |
Het |
Il18rap |
A |
T |
1: 40,588,202 (GRCm39) |
H600L |
possibly damaging |
Het |
Larp7 |
A |
G |
3: 127,340,737 (GRCm39) |
|
probably null |
Het |
Mep1a |
A |
G |
17: 43,789,841 (GRCm39) |
Y490H |
possibly damaging |
Het |
Mrgprh |
T |
A |
17: 13,096,237 (GRCm39) |
V159D |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Nrbp1 |
T |
A |
5: 31,402,231 (GRCm39) |
I64N |
probably damaging |
Het |
Nup214 |
G |
A |
2: 31,894,312 (GRCm39) |
|
probably null |
Het |
Or10d1b |
A |
G |
9: 39,613,297 (GRCm39) |
I256T |
possibly damaging |
Het |
Or13a21 |
G |
T |
7: 139,998,856 (GRCm39) |
L277M |
probably damaging |
Het |
Or2o1 |
T |
A |
11: 49,051,071 (GRCm39) |
C77S |
probably benign |
Het |
Or4k15b |
A |
T |
14: 50,272,743 (GRCm39) |
L39Q |
probably damaging |
Het |
Pef1 |
A |
G |
4: 130,021,180 (GRCm39) |
T245A |
probably damaging |
Het |
Phrf1 |
A |
G |
7: 140,838,217 (GRCm39) |
|
probably benign |
Het |
Ppig |
A |
G |
2: 69,573,942 (GRCm39) |
|
probably benign |
Het |
Ppp1r8 |
G |
T |
4: 132,562,039 (GRCm39) |
F60L |
probably damaging |
Het |
Psmd11 |
G |
A |
11: 80,353,510 (GRCm39) |
|
probably benign |
Het |
Ptk6 |
G |
T |
2: 180,840,315 (GRCm39) |
H230Q |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,863,226 (GRCm39) |
Y1496C |
probably damaging |
Het |
Rhbdl3 |
G |
T |
11: 80,244,457 (GRCm39) |
W388L |
probably damaging |
Het |
Rnf130 |
T |
A |
11: 49,962,109 (GRCm39) |
M185K |
probably benign |
Het |
S100a13 |
A |
T |
3: 90,423,299 (GRCm39) |
I97F |
probably damaging |
Het |
Slc22a16 |
T |
G |
10: 40,463,488 (GRCm39) |
|
probably null |
Het |
Tcte1 |
A |
T |
17: 45,846,211 (GRCm39) |
T272S |
probably benign |
Het |
Terf1 |
T |
C |
1: 15,876,062 (GRCm39) |
V54A |
possibly damaging |
Het |
Tmem63a |
T |
A |
1: 180,783,988 (GRCm39) |
N189K |
probably benign |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
Trpv4 |
A |
G |
5: 114,768,493 (GRCm39) |
F525S |
probably damaging |
Het |
Ttll7 |
A |
G |
3: 146,649,871 (GRCm39) |
T634A |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,929,918 (GRCm39) |
D47G |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,269,977 (GRCm39) |
N1741K |
possibly damaging |
Het |
Wdr87-ps |
A |
T |
7: 29,231,636 (GRCm39) |
|
noncoding transcript |
Het |
Zfp451 |
T |
A |
1: 33,816,810 (GRCm39) |
H163L |
probably damaging |
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 |
R0452:Cars1
|
UTSW |
7 |
143,146,362 (GRCm39) |
nonsense |
probably null |
|
R0717:Cars1
|
UTSW |
7 |
143,138,492 (GRCm39) |
missense |
probably damaging |
0.98 |
R0930:Cars1
|
UTSW |
7 |
143,124,307 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGGCTGTTAGGACCTTGAACGCTC -3'
(R):5'- AGGTGAACTGAAGATCACAAGCCAC -3'
Sequencing Primer
(F):5'- GGCAGACTTCCCCAAAGTACTG -3'
(R):5'- catgcctttaagcctagcac -3'
|
Posted On |
2013-04-24 |