Incidental Mutation 'IGL02192:Cars1'
| ID |
283915 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02192
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
143110967-143153827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143125325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 388
(S388G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010899]
[ENSMUST00000105909]
|
| AlphaFold |
Q9ER72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010899
AA Change: S388G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: S388G
| 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: S305G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: S305G
| 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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,597,825 (GRCm39) |
M545K |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
| Anxa13 |
A |
T |
15: 58,220,628 (GRCm39) |
|
noncoding transcript |
Het |
| Ap2b1 |
C |
T |
11: 83,237,592 (GRCm39) |
T552I |
possibly damaging |
Het |
| Cdh18 |
A |
T |
15: 23,460,402 (GRCm39) |
D544V |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,145,279 (GRCm39) |
R377G |
possibly damaging |
Het |
| Col14a1 |
A |
G |
15: 55,225,798 (GRCm39) |
T154A |
unknown |
Het |
| Col9a1 |
C |
T |
1: 24,261,068 (GRCm39) |
P311S |
probably damaging |
Het |
| Cpsf3 |
G |
T |
12: 21,360,194 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
G |
T |
12: 21,360,197 (GRCm39) |
|
probably null |
Het |
| Dock8 |
T |
C |
19: 25,055,569 (GRCm39) |
|
probably null |
Het |
| Eml6 |
A |
G |
11: 29,755,743 (GRCm39) |
I837T |
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,657,028 (GRCm39) |
T792A |
probably damaging |
Het |
| Exph5 |
A |
T |
9: 53,287,625 (GRCm39) |
R1569* |
probably null |
Het |
| F13b |
A |
T |
1: 139,445,071 (GRCm39) |
T574S |
probably damaging |
Het |
| Fam184b |
G |
T |
5: 45,695,062 (GRCm39) |
D727E |
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,580,633 (GRCm39) |
L524P |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,189,415 (GRCm39) |
L619P |
probably damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,754 (GRCm39) |
I66V |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,712 (GRCm39) |
D426G |
possibly damaging |
Het |
| Gm3371 |
A |
T |
14: 44,641,235 (GRCm39) |
|
probably benign |
Het |
| Hnf1a |
A |
T |
5: 115,098,177 (GRCm39) |
S142T |
probably damaging |
Het |
| Itgb3 |
A |
G |
11: 104,534,765 (GRCm39) |
I541V |
probably benign |
Het |
| Itgbl1 |
G |
T |
14: 124,081,338 (GRCm39) |
C239F |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Larp1b |
G |
T |
3: 40,921,929 (GRCm39) |
S116I |
probably benign |
Het |
| Lmtk3 |
A |
G |
7: 45,443,933 (GRCm39) |
|
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,137,513 (GRCm39) |
I235V |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,879,887 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,053,285 (GRCm39) |
D1819N |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,717 (GRCm39) |
T2254A |
possibly damaging |
Het |
| Nbr1 |
T |
A |
11: 101,460,417 (GRCm39) |
S444T |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,101,301 (GRCm39) |
D1956E |
probably damaging |
Het |
| Ndufaf5 |
T |
C |
2: 140,030,663 (GRCm39) |
V183A |
probably benign |
Het |
| Nfasc |
G |
A |
1: 132,498,219 (GRCm39) |
T1155M |
probably damaging |
Het |
| Nol12 |
A |
G |
15: 78,821,374 (GRCm39) |
E78G |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,133,998 (GRCm39) |
H265L |
probably benign |
Het |
| Or10j2 |
T |
A |
1: 173,098,417 (GRCm39) |
L225H |
probably damaging |
Het |
| Or8k16 |
G |
A |
2: 85,520,472 (GRCm39) |
G233D |
possibly damaging |
Het |
| Pop1 |
A |
G |
15: 34,529,217 (GRCm39) |
E749G |
probably benign |
Het |
| Ppil3 |
T |
C |
1: 58,477,547 (GRCm39) |
I66V |
probably damaging |
Het |
| Prl4a1 |
C |
A |
13: 28,202,554 (GRCm39) |
T43K |
possibly damaging |
Het |
| Prop1 |
A |
G |
11: 50,844,113 (GRCm39) |
|
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,761,010 (GRCm39) |
I218N |
probably damaging |
Het |
| Rbm22 |
T |
A |
18: 60,697,484 (GRCm39) |
M63K |
possibly damaging |
Het |
| Rictor |
T |
C |
15: 6,815,895 (GRCm39) |
S1056P |
probably benign |
Het |
| Rps6kb2 |
T |
C |
19: 4,207,587 (GRCm39) |
T388A |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,613,129 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
A |
T |
1: 85,635,722 (GRCm39) |
D509V |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,829,861 (GRCm39) |
|
probably null |
Het |
| Sspo |
C |
A |
6: 48,436,502 (GRCm39) |
T1254K |
possibly damaging |
Het |
| Stk19 |
A |
G |
17: 35,051,134 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,262 (GRCm39) |
I311F |
probably damaging |
Het |
| Themis2 |
C |
A |
4: 132,510,658 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
C |
19: 41,074,702 (GRCm39) |
Y937C |
possibly damaging |
Het |
| Trim34a |
T |
A |
7: 103,896,939 (GRCm39) |
M1K |
probably null |
Het |
| Usp50 |
G |
A |
2: 126,619,958 (GRCm39) |
T118I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,875,428 (GRCm39) |
S1693F |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,282,852 (GRCm39) |
I467N |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation