Incidental Mutation 'R9200:Cars1'
ID |
698174 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cars1
|
Ensembl Gene |
ENSMUSG00000010755 |
Gene Name |
cysteinyl-tRNA synthetase 1 |
Synonyms |
Cars, CA3 |
MMRRC Submission |
068957-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9200 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
143110967-143153827 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 143129654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010899]
[ENSMUST00000105909]
|
AlphaFold |
Q9ER72 |
Predicted Effect |
probably null
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (71/72) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
C |
A |
7: 119,179,839 (GRCm39) |
Y352* |
probably null |
Het |
Adh7 |
C |
T |
3: 137,927,567 (GRCm39) |
R38C |
probably benign |
Het |
Ankrd2 |
A |
T |
19: 42,028,871 (GRCm39) |
T145S |
|
Het |
Anpep |
T |
C |
7: 79,490,870 (GRCm39) |
N241D |
probably benign |
Het |
Apaf1 |
G |
A |
10: 90,845,102 (GRCm39) |
L990F |
probably benign |
Het |
Arsi |
A |
G |
18: 61,049,836 (GRCm39) |
T240A |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,521,787 (GRCm39) |
E434G |
possibly damaging |
Het |
Atp2c2 |
A |
T |
8: 120,474,999 (GRCm39) |
K535* |
probably null |
Het |
B3galt4 |
A |
G |
17: 34,170,384 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
C |
G |
16: 95,839,154 (GRCm39) |
C839S |
probably benign |
Het |
Catsperd |
T |
A |
17: 56,935,229 (GRCm39) |
V14D |
unknown |
Het |
Ccdc150 |
A |
C |
1: 54,299,197 (GRCm39) |
T58P |
probably damaging |
Het |
Cdhr17 |
T |
C |
5: 17,006,659 (GRCm39) |
|
probably null |
Het |
Cdon |
A |
G |
9: 35,414,617 (GRCm39) |
D1164G |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cic |
A |
C |
7: 24,971,940 (GRCm39) |
D557A |
probably damaging |
Het |
Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
Dach1 |
G |
T |
14: 98,065,743 (GRCm39) |
R695S |
probably damaging |
Het |
Ddc |
T |
C |
11: 11,765,388 (GRCm39) |
N428S |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,004,497 (GRCm39) |
T3822I |
probably benign |
Het |
Dnmt1 |
T |
A |
9: 20,819,896 (GRCm39) |
M1535L |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,617,051 (GRCm39) |
|
probably null |
Het |
Emilin2 |
A |
G |
17: 71,581,229 (GRCm39) |
I499T |
possibly damaging |
Het |
Etl4 |
A |
G |
2: 20,786,702 (GRCm39) |
D766G |
probably damaging |
Het |
Fes |
T |
C |
7: 80,032,140 (GRCm39) |
Q414R |
probably benign |
Het |
Fhod1 |
A |
G |
8: 106,058,072 (GRCm39) |
V844A |
probably benign |
Het |
Fshr |
A |
T |
17: 89,354,103 (GRCm39) |
V85E |
probably benign |
Het |
Gc |
T |
C |
5: 89,593,236 (GRCm39) |
N61S |
probably benign |
Het |
Hapstr1 |
T |
C |
16: 8,673,898 (GRCm39) |
L275P |
possibly damaging |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,104,997 (GRCm39) |
I1059N |
possibly damaging |
Het |
Itpr3 |
T |
A |
17: 27,326,636 (GRCm39) |
V1426E |
probably damaging |
Het |
Jag1 |
T |
A |
2: 136,929,044 (GRCm39) |
Y804F |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,605,297 (GRCm39) |
T1084A |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,760,791 (GRCm39) |
D4952G |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,953,860 (GRCm39) |
T714A |
probably damaging |
Het |
Nab1 |
T |
A |
1: 52,529,525 (GRCm39) |
H124L |
possibly damaging |
Het |
Nacc2 |
A |
G |
2: 25,980,118 (GRCm39) |
F106S |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,320,425 (GRCm39) |
I2006T |
probably damaging |
Het |
Nkpd1 |
C |
A |
7: 19,257,683 (GRCm39) |
H487Q |
probably benign |
Het |
Nop2 |
G |
A |
6: 125,117,843 (GRCm39) |
|
probably null |
Het |
Or10ag54 |
T |
A |
2: 87,100,055 (GRCm39) |
M310K |
probably benign |
Het |
Or5b124 |
A |
G |
19: 13,610,595 (GRCm39) |
N40S |
probably damaging |
Het |
Otud6b |
A |
T |
4: 14,811,712 (GRCm39) |
Y310* |
probably null |
Het |
Phyh |
A |
T |
2: 4,932,247 (GRCm39) |
Y111F |
probably benign |
Het |
Pon3 |
A |
G |
6: 5,240,863 (GRCm39) |
L106P |
probably benign |
Het |
Ppp6r3 |
T |
C |
19: 3,519,748 (GRCm39) |
D615G |
probably damaging |
Het |
Pramel23 |
G |
A |
4: 143,423,856 (GRCm39) |
P311L |
possibly damaging |
Het |
Prdm10 |
G |
A |
9: 31,268,438 (GRCm39) |
V796I |
probably damaging |
Het |
Prkdc |
G |
T |
16: 15,523,153 (GRCm39) |
V1192F |
probably damaging |
Het |
R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
Rab39 |
T |
C |
9: 53,597,665 (GRCm39) |
N200S |
probably benign |
Het |
Rcc2 |
A |
G |
4: 140,445,664 (GRCm39) |
I441V |
probably benign |
Het |
Rxra |
G |
A |
2: 27,627,496 (GRCm39) |
V72I |
possibly damaging |
Het |
Ryr1 |
T |
G |
7: 28,794,524 (GRCm39) |
Q1252P |
probably benign |
Het |
Sectm1a |
T |
C |
11: 120,960,473 (GRCm39) |
Y114C |
probably damaging |
Het |
Smim1 |
T |
C |
4: 154,108,276 (GRCm39) |
|
probably null |
Het |
Smpd2 |
C |
T |
10: 41,363,561 (GRCm39) |
D301N |
probably benign |
Het |
Smyd3 |
T |
C |
1: 179,232,963 (GRCm39) |
D139G |
probably benign |
Het |
Sox13 |
C |
T |
1: 133,313,743 (GRCm39) |
C399Y |
probably damaging |
Het |
Tars3 |
A |
G |
7: 65,302,013 (GRCm39) |
E179G |
probably benign |
Het |
Tas2r138 |
A |
G |
6: 40,589,494 (GRCm39) |
F251L |
probably damaging |
Het |
Tesk1 |
A |
G |
4: 43,447,307 (GRCm39) |
E565G |
probably damaging |
Het |
Tm2d1 |
A |
T |
4: 98,246,200 (GRCm39) |
F201I |
possibly damaging |
Het |
Tom1l2 |
C |
A |
11: 60,120,942 (GRCm39) |
D501Y |
probably benign |
Het |
Trim39 |
G |
T |
17: 36,579,667 (GRCm39) |
T96K |
probably benign |
Het |
Ubash3a |
A |
G |
17: 31,436,971 (GRCm39) |
H196R |
probably damaging |
Het |
Unc13b |
A |
G |
4: 43,257,352 (GRCm39) |
E1206G |
possibly damaging |
Het |
Usp17lc |
A |
T |
7: 103,068,105 (GRCm39) |
T467S |
probably benign |
Het |
Vmn1r128 |
T |
C |
7: 21,083,316 (GRCm39) |
S7P |
possibly damaging |
Het |
Vmn1r185 |
T |
A |
7: 26,311,073 (GRCm39) |
H144L |
possibly damaging |
Het |
Wfdc6b |
A |
T |
2: 164,455,708 (GRCm39) |
R12S |
possibly damaging |
Het |
Zmynd8 |
A |
T |
2: 165,682,005 (GRCm39) |
D175E |
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 |
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 |
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'- CCAGTTAAATGCTTGTGACAACGG -3'
(R):5'- GGGCAGTTCCAACAGTCATG -3'
Sequencing Primer
(F):5'- TGCTTGTGACAACGGCATAC -3'
(R):5'- CCAACAGTCATGTGCTTTTCAAGG -3'
|
Posted On |
2022-02-07 |