Incidental Mutation 'R4082:Cars1'
| ID |
368346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cars1
|
| Ensembl Gene |
ENSMUSG00000010755 |
| Gene Name |
cysteinyl-tRNA synthetase 1 |
| Synonyms |
Cars, CA3 |
| MMRRC Submission |
041624-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4082 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143110967-143153827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 143123234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 461
(E461K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010899]
[ENSMUST00000105909]
|
| AlphaFold |
Q9ER72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010899
AA Change: E544K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: E544K
| 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: E461K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: E461K
| 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
|
| Meta Mutation Damage Score |
0.3609 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
G |
19: 24,043,366 (GRCm39) |
|
noncoding transcript |
Het |
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
| Abca12 |
G |
T |
1: 71,306,622 (GRCm39) |
T2028K |
possibly damaging |
Het |
| Abt1 |
T |
C |
13: 23,606,316 (GRCm39) |
T213A |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,014,117 (GRCm39) |
Y173S |
probably damaging |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Akr1d1 |
G |
A |
6: 37,534,424 (GRCm39) |
V193M |
probably damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,943,290 (GRCm39) |
L800P |
probably damaging |
Het |
| Ccl22 |
A |
G |
8: 95,473,536 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cdc123 |
G |
A |
2: 5,815,566 (GRCm39) |
|
probably benign |
Het |
| Cldn11 |
A |
T |
3: 31,217,278 (GRCm39) |
I149F |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,300,429 (GRCm39) |
Y986H |
unknown |
Het |
| Col6a3 |
G |
A |
1: 90,749,605 (GRCm39) |
L410F |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,761,282 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,433,374 (GRCm39) |
|
probably benign |
Het |
| Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,350,991 (GRCm39) |
I321T |
possibly damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,797 (GRCm39) |
|
probably null |
Het |
| Fasl |
C |
T |
1: 161,609,420 (GRCm39) |
V189M |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,394,643 (GRCm39) |
|
probably null |
Het |
| Flg2 |
A |
C |
3: 93,110,828 (GRCm39) |
E952A |
unknown |
Het |
| Gpd1l |
A |
T |
9: 114,746,146 (GRCm39) |
L90Q |
probably damaging |
Het |
| Grik4 |
G |
T |
9: 42,509,180 (GRCm39) |
F414L |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klhl3 |
C |
T |
13: 58,166,611 (GRCm39) |
G407S |
probably null |
Het |
| Lmbr1 |
T |
C |
5: 29,463,753 (GRCm39) |
E157G |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
| Mrpl20 |
A |
T |
4: 155,892,970 (GRCm39) |
D67V |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,378,022 (GRCm39) |
T1346A |
possibly damaging |
Het |
| Naip5 |
A |
T |
13: 100,382,338 (GRCm39) |
C124S |
probably damaging |
Het |
| Or10ag2 |
T |
A |
2: 87,248,801 (GRCm39) |
Y134* |
probably null |
Het |
| Or13n4 |
T |
C |
7: 106,423,245 (GRCm39) |
T163A |
possibly damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,830 (GRCm39) |
V290D |
probably damaging |
Het |
| Osbp |
A |
G |
19: 11,956,030 (GRCm39) |
D385G |
probably benign |
Het |
| Paip1 |
G |
A |
13: 119,593,540 (GRCm39) |
D460N |
probably damaging |
Het |
| Pde3b |
T |
C |
7: 114,093,823 (GRCm39) |
S356P |
probably benign |
Het |
| Pms2 |
A |
G |
5: 143,867,837 (GRCm39) |
M814V |
probably damaging |
Het |
| Polg |
C |
A |
7: 79,114,576 (GRCm39) |
K128N |
probably damaging |
Het |
| Polk |
G |
T |
13: 96,620,181 (GRCm39) |
T694K |
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,417,491 (GRCm39) |
K342R |
unknown |
Het |
| Pou5f2 |
T |
C |
13: 78,174,024 (GRCm39) |
L322P |
probably damaging |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,705,382 (GRCm39) |
D183G |
probably damaging |
Het |
| Pygb |
G |
A |
2: 150,668,391 (GRCm39) |
|
probably null |
Het |
| Ralgds |
C |
T |
2: 28,442,283 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,130,927 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Rspo2 |
A |
C |
15: 42,885,933 (GRCm39) |
V241G |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,759,469 (GRCm39) |
|
probably benign |
Het |
| Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Sufu |
A |
G |
19: 46,413,541 (GRCm39) |
M141V |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,057,635 (GRCm39) |
V831D |
possibly damaging |
Het |
| Tc2n |
T |
C |
12: 101,617,414 (GRCm39) |
E335G |
possibly damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmcc1 |
T |
A |
6: 116,020,441 (GRCm39) |
H118L |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vmn1r209 |
A |
C |
13: 22,989,785 (GRCm39) |
L302V |
probably null |
Het |
| Vmn2r117 |
C |
T |
17: 23,679,080 (GRCm39) |
V715I |
probably benign |
Het |
| Vopp1 |
A |
T |
6: 57,766,964 (GRCm39) |
Y37* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,863,973 (GRCm39) |
T528A |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,302,662 (GRCm39) |
D1774G |
probably benign |
Het |
| Zfp955b |
T |
A |
17: 33,521,129 (GRCm39) |
D199E |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,734,475 (GRCm39) |
S525G |
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 |
|
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'- GAGAGATCTTCAGCCAGCCATC -3'
(R):5'- ACCATTTCATTCTGACTCAGGC -3'
Sequencing Primer
(F):5'- TTCAGCCAGCCATCCCAGAAC -3'
(R):5'- GCATTGTGCTGACAGATC -3'
|
| Posted On |
2016-01-29 |
Incidental Mutation