Incidental Mutation 'IGL01155:Cars1'
| ID |
51699 |
| 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 # |
IGL01155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
143110967-143153827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143123586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 455
(Y455F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010899]
[ENSMUST00000105909]
|
| AlphaFold |
Q9ER72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010899
AA Change: Y538F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: Y538F
| 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
AA Change: Y455F
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: Y455F
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208575
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,708,740 (GRCm39) |
I409N |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,219,684 (GRCm39) |
D29G |
probably damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,885,365 (GRCm39) |
T322K |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,269,207 (GRCm39) |
|
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,915,895 (GRCm39) |
T282A |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,971,553 (GRCm39) |
T985A |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,066,518 (GRCm39) |
F349L |
probably damaging |
Het |
| Bves |
T |
A |
10: 45,229,955 (GRCm39) |
I253K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,321,088 (GRCm39) |
V15F |
probably damaging |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Fat1 |
G |
A |
8: 45,476,986 (GRCm39) |
A2011T |
probably damaging |
Het |
| Fyb2 |
C |
T |
4: 104,856,583 (GRCm39) |
T533I |
probably benign |
Het |
| Gm1043 |
T |
C |
5: 37,344,433 (GRCm39) |
L182P |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,752,201 (GRCm39) |
V1295E |
possibly damaging |
Het |
| Il12b |
T |
A |
11: 44,294,915 (GRCm39) |
S18T |
probably benign |
Het |
| Iqcg |
A |
G |
16: 32,861,245 (GRCm39) |
V157A |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,744,207 (GRCm39) |
M937K |
probably benign |
Het |
| Large1 |
T |
C |
8: 73,858,617 (GRCm39) |
S84G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,660,947 (GRCm39) |
T54A |
probably benign |
Het |
| Mfn1 |
A |
G |
3: 32,596,985 (GRCm39) |
M148V |
probably damaging |
Het |
| Mobp |
C |
A |
9: 119,997,300 (GRCm39) |
T73K |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,607,019 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,360,680 (GRCm39) |
|
probably benign |
Het |
| Mzt2 |
A |
C |
16: 15,680,274 (GRCm39) |
S104A |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,622,155 (GRCm39) |
K27N |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,083,991 (GRCm39) |
I1267N |
probably damaging |
Het |
| Or10j5 |
T |
A |
1: 172,784,491 (GRCm39) |
I43N |
probably benign |
Het |
| Rara |
A |
G |
11: 98,859,010 (GRCm39) |
E153G |
possibly damaging |
Het |
| Scn2a |
T |
G |
2: 65,548,092 (GRCm39) |
S66A |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,291,426 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
A |
G |
14: 70,436,790 (GRCm39) |
V136A |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,114,214 (GRCm39) |
H143Q |
probably benign |
Het |
| Susd2 |
G |
A |
10: 75,476,726 (GRCm39) |
T99I |
possibly damaging |
Het |
| T |
C |
T |
17: 8,660,577 (GRCm39) |
|
probably null |
Het |
| Tac2 |
G |
A |
10: 127,562,003 (GRCm39) |
|
probably null |
Het |
| Tfap4 |
G |
T |
16: 4,365,223 (GRCm39) |
P180T |
probably damaging |
Het |
| Trap1 |
G |
A |
16: 3,861,842 (GRCm39) |
Q641* |
probably null |
Het |
| Unc119 |
A |
G |
11: 78,239,435 (GRCm39) |
N252S |
probably damaging |
Het |
|
| Other mutations in Cars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation