Incidental Mutation 'R1755:Cars1'
| ID |
194779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cars1
|
| Ensembl Gene |
ENSMUSG00000010755 |
| Gene Name |
cysteinyl-tRNA synthetase 1 |
| Synonyms |
Cars, CA3 |
| MMRRC Submission |
039787-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1755 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
143110967-143153827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143123194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 474
(V474A)
|
| 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: V557A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: V557A
| 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: V474A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: V474A
| 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 |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
G |
A |
8: 88,315,585 (GRCm39) |
R225H |
possibly damaging |
Het |
| 9330159F19Rik |
A |
T |
10: 29,098,290 (GRCm39) |
H199L |
possibly damaging |
Het |
| Acaca |
AC |
A |
11: 84,167,390 (GRCm39) |
|
probably null |
Het |
| Adam23 |
G |
A |
1: 63,582,329 (GRCm39) |
V326M |
probably damaging |
Het |
| Aldh1a2 |
T |
A |
9: 71,169,023 (GRCm39) |
Y168* |
probably null |
Het |
| Ano6 |
A |
G |
15: 95,870,451 (GRCm39) |
K869E |
possibly damaging |
Het |
| Aplp2 |
G |
A |
9: 31,088,400 (GRCm39) |
A106V |
probably damaging |
Het |
| Arhgdib |
T |
A |
6: 136,906,612 (GRCm39) |
K30* |
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,650,638 (GRCm39) |
T83A |
possibly damaging |
Het |
| Card9 |
T |
C |
2: 26,249,546 (GRCm39) |
E5G |
probably damaging |
Het |
| Cd300ld2 |
A |
G |
11: 114,904,601 (GRCm39) |
F89L |
probably benign |
Het |
| Celf2 |
T |
A |
2: 6,889,769 (GRCm39) |
M1L |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,451,205 (GRCm39) |
D2174G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cox6b2 |
A |
G |
7: 4,754,937 (GRCm39) |
F74S |
probably damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
| Ddx3y |
A |
G |
Y: 1,279,543 (GRCm39) |
I107T |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,326,782 (GRCm39) |
Y1997F |
probably damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,189,649 (GRCm39) |
L620P |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,364,460 (GRCm39) |
I683N |
probably damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Gmip |
A |
G |
8: 70,266,774 (GRCm39) |
I296M |
probably damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,094,639 (GRCm39) |
S202P |
probably damaging |
Het |
| Ifi208 |
C |
A |
1: 173,505,476 (GRCm39) |
D75E |
possibly damaging |
Het |
| Il24 |
T |
C |
1: 130,811,680 (GRCm39) |
N132S |
possibly damaging |
Het |
| Katnal2 |
A |
G |
18: 77,099,763 (GRCm39) |
C124R |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,867,270 (GRCm39) |
L791Q |
probably damaging |
Het |
| Kcns3 |
T |
A |
12: 11,141,445 (GRCm39) |
D418V |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,906,089 (GRCm39) |
V618A |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,927,154 (GRCm39) |
V1179E |
possibly damaging |
Het |
| Lpp |
A |
G |
16: 24,663,874 (GRCm39) |
I259V |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 130,986,087 (GRCm39) |
|
probably null |
Het |
| Marchf7 |
T |
C |
2: 60,065,265 (GRCm39) |
S514P |
probably benign |
Het |
| Nr4a2 |
T |
A |
2: 56,999,104 (GRCm39) |
L381F |
probably damaging |
Het |
| Nt5dc3 |
A |
G |
10: 86,660,115 (GRCm39) |
D328G |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,568,445 (GRCm39) |
K144E |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,746,845 (GRCm39) |
M735K |
possibly damaging |
Het |
| Olfml2b |
G |
A |
1: 170,509,346 (GRCm39) |
V565M |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,255,819 (GRCm39) |
V108A |
probably damaging |
Het |
| Orc3 |
G |
A |
4: 34,575,114 (GRCm39) |
A590V |
possibly damaging |
Het |
| Picalm |
T |
C |
7: 89,809,757 (GRCm39) |
S78P |
possibly damaging |
Het |
| Por |
T |
A |
5: 135,758,339 (GRCm39) |
Y105* |
probably null |
Het |
| Ppara |
A |
G |
15: 85,682,180 (GRCm39) |
K292R |
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,577,380 (GRCm39) |
F3S |
probably damaging |
Het |
| Prss59 |
T |
G |
6: 40,903,096 (GRCm39) |
Y92S |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,440,558 (GRCm39) |
I844N |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,027,441 (GRCm39) |
Y519H |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,332,060 (GRCm39) |
V1261A |
probably benign |
Het |
| Slc2a2 |
T |
A |
3: 28,767,811 (GRCm39) |
|
probably null |
Het |
| Slc5a7 |
T |
C |
17: 54,600,006 (GRCm39) |
M136V |
probably benign |
Het |
| Smc4 |
C |
A |
3: 68,941,441 (GRCm39) |
A1232E |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,802,287 (GRCm39) |
C270* |
probably null |
Het |
| Sparcl1 |
C |
T |
5: 104,240,690 (GRCm39) |
E245K |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,879,850 (GRCm39) |
H1162R |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,851,010 (GRCm39) |
D105G |
probably benign |
Het |
| Tmem62 |
T |
C |
2: 120,814,958 (GRCm39) |
|
probably null |
Het |
| Triobp |
G |
A |
15: 78,850,679 (GRCm39) |
A278T |
probably benign |
Het |
| Ufd1 |
T |
G |
16: 18,642,003 (GRCm39) |
C151W |
probably damaging |
Het |
| Upk1b |
T |
G |
16: 38,600,402 (GRCm39) |
M193L |
probably benign |
Het |
| Usp15 |
A |
G |
10: 122,968,949 (GRCm39) |
M334T |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,645,631 (GRCm39) |
S541P |
probably benign |
Het |
| Vmn1r61 |
A |
T |
7: 5,614,302 (GRCm39) |
L4* |
probably null |
Het |
| Vmn2r96 |
G |
A |
17: 18,802,915 (GRCm39) |
G83D |
possibly damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,248,110 (GRCm39) |
D387G |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,365,656 (GRCm39) |
N250K |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,811,043 (GRCm39) |
V667A |
probably benign |
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 |
|
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 |
|
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'- AGCTACCCAGGACAGGCTATGATG -3'
(R):5'- AGGGAAGACCATGTTCACATGCAG -3'
Sequencing Primer
(F):5'- CAGGACAGGCTATGATGGAGAG -3'
(R):5'- CACGTTTCTGTCCCAAGGAATAAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation