Incidental Mutation 'IGL02860:Cars1'
ID 362121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cars1
Ensembl Gene ENSMUSG00000010755
Gene Name cysteinyl-tRNA synthetase 1
Synonyms Cars, CA3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02860
Quality Score
Status
Chromosome 7
Chromosomal Location 143110967-143153827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143140158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 99 (D99E)
Ref Sequence ENSEMBL: ENSMUSP00000101529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010899] [ENSMUST00000105909] [ENSMUST00000154022]
AlphaFold Q9ER72
Predicted Effect probably damaging
Transcript: ENSMUST00000010899
AA Change: D182E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: D182E

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 damaging
Transcript: ENSMUST00000105909
AA Change: D99E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: D99E

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: ENSMUST00000134128
Predicted Effect probably damaging
Transcript: ENSMUST00000154022
AA Change: D35E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A T 9: 90,073,915 (GRCm39) M832L probably benign Het
Ccdc112 A G 18: 46,420,509 (GRCm39) F414L probably benign Het
Chst15 C T 7: 131,870,831 (GRCm39) V235I probably benign Het
Dysf G T 6: 84,167,880 (GRCm39) probably null Het
Elavl2 T C 4: 91,149,190 (GRCm39) D174G probably damaging Het
Gapdhs T A 7: 30,429,308 (GRCm39) probably null Het
Gnb1l G A 16: 18,371,285 (GRCm39) G259R probably damaging Het
Ighv9-2 T G 12: 114,072,857 (GRCm39) I39L possibly damaging Het
Kntc1 T A 5: 123,907,936 (GRCm39) N474K possibly damaging Het
Lrrc8c T C 5: 105,727,481 (GRCm39) probably benign Het
Lyn C T 4: 3,745,594 (GRCm39) A131V possibly damaging Het
Mindy2 T C 9: 70,563,826 (GRCm39) E168G probably damaging Het
Morc2a T C 11: 3,611,821 (GRCm39) probably benign Het
Naip6 T C 13: 100,436,984 (GRCm39) Q513R possibly damaging Het
Nell1 A T 7: 50,498,233 (GRCm39) I597F probably damaging Het
Nudt12 T A 17: 59,317,430 (GRCm39) R72S probably benign Het
Pan2 C T 10: 128,146,604 (GRCm39) R414* probably null Het
Rb1 T C 14: 73,443,452 (GRCm39) R768G probably damaging Het
Rps6ka2 A G 17: 7,550,255 (GRCm39) E440G possibly damaging Het
Serpinb3a C T 1: 106,977,183 (GRCm39) probably benign Het
Stx8 C A 11: 67,875,391 (GRCm39) T72K probably damaging Het
Tecrl A G 5: 83,502,844 (GRCm39) F2L probably benign Het
Tmem263 C T 10: 84,950,416 (GRCm39) T69I probably damaging Het
Ttc39b T C 4: 83,181,983 (GRCm39) N49D probably benign Het
Ttn A G 2: 76,547,359 (GRCm39) L32229P probably damaging Het
Zfp358 T C 8: 3,546,074 (GRCm39) F219L 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
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
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
Posted On 2015-12-18