Incidental Mutation 'R4527:Cars1'
ID 334485
Institutional Source Beutler Lab
Gene Symbol Cars1
Ensembl Gene ENSMUSG00000010755
Gene Name cysteinyl-tRNA synthetase 1
Synonyms Cars, CA3
MMRRC Submission 041768-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4527 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 143110967-143153827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143118786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 668 (M668K)
Ref Sequence ENSEMBL: ENSMUSP00000010899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010899] [ENSMUST00000105909]
AlphaFold Q9ER72
Predicted Effect probably benign
Transcript: ENSMUST00000010899
AA Change: M668K

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: M668K

DomainStartEndE-ValueType
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: M585K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: M585K

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000208575
Meta Mutation Damage Score 0.2333 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 A G 5: 137,682,798 (GRCm39) V15A unknown Het
Asb3 A G 11: 31,008,933 (GRCm39) D278G probably benign Het
Atrn T C 2: 130,815,424 (GRCm39) I780T probably benign Het
Car2 C T 3: 14,963,065 (GRCm39) P200L probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cer1 A G 4: 82,802,906 (GRCm39) F139L possibly damaging Het
Crhr2 T A 6: 55,109,838 (GRCm39) probably benign Het
Dnah7c G A 1: 46,572,091 (GRCm39) E855K probably benign Het
Espn C T 4: 152,220,106 (GRCm39) R339Q probably damaging Het
Flt3 T A 5: 147,293,163 (GRCm39) E481V probably benign Het
Gorab T G 1: 163,224,705 (GRCm39) K32T possibly damaging Het
Mak16 G A 8: 31,656,205 (GRCm39) Q93* probably null Het
Muc4 T C 16: 32,576,217 (GRCm39) probably benign Het
Neb A T 2: 52,083,249 (GRCm39) I5409N probably benign Het
Olfm4 C T 14: 80,258,664 (GRCm39) S304F probably benign Het
Pask A G 1: 93,248,224 (GRCm39) F1026L probably benign Het
Rab11a A G 9: 64,632,850 (GRCm39) S19P probably benign Het
Rab11fip3 T C 17: 26,255,631 (GRCm39) D541G probably damaging Het
Rnf10 T C 5: 115,398,210 (GRCm39) S108G probably damaging Het
Rps4l-ps C T 7: 114,526,403 (GRCm39) noncoding transcript Het
Shank1 A T 7: 44,004,014 (GRCm39) H1902L possibly damaging Het
Slc8a3 T C 12: 81,362,627 (GRCm39) Y64C probably damaging Het
Sorbs3 A C 14: 70,445,066 (GRCm39) I4S probably damaging Het
St18 A G 1: 6,925,647 (GRCm39) N935S probably damaging Het
Taf4b T C 18: 14,954,499 (GRCm39) V525A probably damaging Het
Timm10b A G 7: 105,332,013 (GRCm39) N828S probably benign Het
Ttyh1 A T 7: 4,122,763 (GRCm39) D4V probably damaging Het
Usp34 T A 11: 23,371,257 (GRCm39) L53Q possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r70 A T 7: 85,208,787 (GRCm39) N563K probably damaging Het
Xrcc5 C A 1: 72,351,659 (GRCm39) N76K probably damaging Het
Zscan25 T C 5: 145,220,268 (GRCm39) V21A probably damaging Het
Other mutations in Cars1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGCTGCCCTGAAAGTCCTG -3'
(R):5'- TTCAGGCTGTCCAAGAAGGG -3'

Sequencing Primer
(F):5'- CTGCCCTGAAAGTCCTGAGGAATAG -3'
(R):5'- AGATAGGGCCTGGCTGCAC -3'
Posted On 2015-08-18