Incidental Mutation 'R8447:Cars1'
| ID |
654550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cars1
|
| Ensembl Gene |
ENSMUSG00000010755 |
| Gene Name |
cysteinyl-tRNA synthetase 1 |
| Synonyms |
Cars, CA3 |
| MMRRC Submission |
067902-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8447 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
143110967-143153827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143123766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 506
(K506E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010899]
[ENSMUST00000105909]
|
| AlphaFold |
Q9ER72 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010899
AA Change: K506E
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: K506E
| 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 |
possibly damaging
Transcript: ENSMUST00000105909
AA Change: K423E
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: K423E
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
C |
5: 8,957,278 (GRCm39) |
T136P |
probably damaging |
Het |
| Abcc3 |
A |
T |
11: 94,254,886 (GRCm39) |
L639Q |
possibly damaging |
Het |
| Adam10 |
T |
A |
9: 70,655,400 (GRCm39) |
N289K |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,306,289 (GRCm39) |
E1138G |
probably benign |
Het |
| Akr1e1 |
C |
A |
13: 4,648,793 (GRCm39) |
L167F |
probably damaging |
Het |
| Castor1 |
T |
C |
11: 4,170,165 (GRCm39) |
V81A |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,260,902 (GRCm39) |
R65S |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Clec16a |
C |
A |
16: 10,559,487 (GRCm39) |
T920K |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,333,842 (GRCm39) |
E351K |
probably damaging |
Het |
| Diablo |
T |
C |
5: 123,655,829 (GRCm39) |
E163G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,115,757 (GRCm39) |
L1547P |
probably damaging |
Het |
| Dynll2 |
G |
T |
11: 87,874,719 (GRCm39) |
D37E |
probably benign |
Het |
| Eml4 |
A |
T |
17: 83,755,656 (GRCm39) |
Q408L |
probably damaging |
Het |
| F2rl3 |
T |
C |
8: 73,489,963 (GRCm39) |
*397R |
probably null |
Het |
| Fance |
T |
A |
17: 28,545,155 (GRCm39) |
L127Q |
unknown |
Het |
| Fat4 |
T |
C |
3: 39,033,824 (GRCm39) |
V2492A |
possibly damaging |
Het |
| Ggta1 |
C |
T |
2: 35,292,573 (GRCm39) |
D245N |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,166,106 (GRCm39) |
N1049S |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,148,215 (GRCm39) |
V354A |
probably benign |
Het |
| Kank4 |
T |
A |
4: 98,666,729 (GRCm39) |
I573F |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,588,881 (GRCm39) |
V376A |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,481,121 (GRCm39) |
V69A |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,020,825 (GRCm39) |
L250Q |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,444,356 (GRCm39) |
V99D |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,671,688 (GRCm39) |
V904A |
probably benign |
Het |
| Lipe |
G |
T |
7: 25,080,017 (GRCm39) |
N710K |
probably damaging |
Het |
| Med1 |
C |
A |
11: 98,060,240 (GRCm39) |
D230Y |
probably damaging |
Het |
| Mpv17l |
T |
A |
16: 13,758,864 (GRCm39) |
I96K |
probably benign |
Het |
| Obox1 |
A |
T |
7: 15,289,541 (GRCm39) |
Q110L |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,008 (GRCm39) |
V84A |
probably benign |
Het |
| Or4f4b |
T |
A |
2: 111,314,101 (GRCm39) |
Y137N |
probably damaging |
Het |
| Or4k37 |
T |
A |
2: 111,159,307 (GRCm39) |
I181N |
possibly damaging |
Het |
| Or5t16 |
T |
A |
2: 86,818,885 (GRCm39) |
I212F |
probably benign |
Het |
| Or6c76 |
T |
G |
10: 129,612,371 (GRCm39) |
M211R |
possibly damaging |
Het |
| Or9s14 |
C |
A |
1: 92,535,494 (GRCm39) |
|
probably benign |
Het |
| Pah |
T |
C |
10: 87,417,827 (GRCm39) |
|
probably null |
Het |
| Pate1 |
A |
T |
9: 35,597,631 (GRCm39) |
N40K |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,731,423 (GRCm39) |
D182E |
|
Het |
| Prl7a2 |
A |
T |
13: 27,849,941 (GRCm39) |
S44T |
possibly damaging |
Het |
| Pwp2 |
T |
A |
10: 78,007,873 (GRCm39) |
D894V |
probably benign |
Het |
| Ripor2 |
T |
A |
13: 24,907,771 (GRCm39) |
L1014Q |
probably damaging |
Het |
| Rpe |
G |
A |
1: 66,740,188 (GRCm39) |
|
probably null |
Het |
| Sh2d3c |
A |
G |
2: 32,642,671 (GRCm39) |
T706A |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,006,309 (GRCm39) |
F445S |
possibly damaging |
Het |
| Spata20 |
C |
A |
11: 94,373,080 (GRCm39) |
L515F |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,737,437 (GRCm39) |
S1338F |
possibly damaging |
Het |
| Tm9sf2 |
C |
A |
14: 122,377,180 (GRCm39) |
P236Q |
probably damaging |
Het |
| Tmem135 |
T |
C |
7: 88,803,240 (GRCm39) |
Y311C |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,688,023 (GRCm39) |
C1190F |
possibly damaging |
Het |
| Tmem94 |
G |
A |
11: 115,688,696 (GRCm39) |
R1301H |
probably benign |
Het |
| Zp3 |
G |
A |
5: 136,013,244 (GRCm39) |
G192E |
probably damaging |
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 |
|
|
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'- CTGGCAAGAACTGAGCACTC -3'
(R):5'- CCTCTTGACAGGTGAGATCTC -3'
Sequencing Primer
(F):5'- GAACTGAGCACTCACGTTCATG -3'
(R):5'- TGAGATCTCACCCCAGGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation