Incidental Mutation 'R1871:Qars1'
ID 210750
Institutional Source Beutler Lab
Gene Symbol Qars1
Ensembl Gene ENSMUSG00000032604
Gene Name glutaminyl-tRNA synthetase 1
Synonyms 1200016L19Rik, Qars, 1110018N24Rik
MMRRC Submission 039893-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1871 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108385204-108393140 bp(+) (GRCm39)
Type of Mutation splice site (2942 bp from exon)
DNA Base Change (assembly) T to G at 108391315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006838] [ENSMUST00000006851] [ENSMUST00000112155] [ENSMUST00000134939] [ENSMUST00000193258] [ENSMUST00000192819] [ENSMUST00000192932] [ENSMUST00000194045] [ENSMUST00000207947] [ENSMUST00000208162] [ENSMUST00000208214] [ENSMUST00000207810] [ENSMUST00000208581] [ENSMUST00000207790] [ENSMUST00000208177] [ENSMUST00000207862] [ENSMUST00000194385] [ENSMUST00000195563] [ENSMUST00000193348] [ENSMUST00000195513]
AlphaFold Q8BML9
Predicted Effect probably damaging
Transcript: ENSMUST00000006838
AA Change: C556G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: C556G

DomainStartEndE-ValueType
Pfam:tRNA_synt_1c_R1 4 162 1.2e-54 PFAM
Pfam:tRNA_synt_1c_R2 165 256 6.5e-31 PFAM
Pfam:tRNA-synt_1c 263 563 4.5e-119 PFAM
Pfam:tRNA-synt_1c_C 565 752 6.9e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000006851
SMART Domains Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
low complexity region 419 443 N/A INTRINSIC
low complexity region 457 478 N/A INTRINSIC
Pfam:DUF3504 597 761 1.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112155
SMART Domains Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
low complexity region 419 443 N/A INTRINSIC
low complexity region 457 478 N/A INTRINSIC
Pfam:DUF3504 600 760 2.3e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131005
Predicted Effect possibly damaging
Transcript: ENSMUST00000134939
AA Change: C532G

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: C532G

DomainStartEndE-ValueType
Pfam:tRNA_synt_1c_R1 1 163 1.1e-55 PFAM
Pfam:tRNA_synt_1c_R2 164 256 6.9e-31 PFAM
Pfam:tRNA-synt_1c 263 563 2.5e-115 PFAM
Pfam:tRNA-synt_1c_C 565 720 5.7e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141201
Predicted Effect probably null
Transcript: ENSMUST00000141903
SMART Domains Protein: ENSMUSP00000121146
Gene: ENSMUSG00000032604

DomainStartEndE-ValueType
Pfam:tRNA-synt_1c 2 148 2.1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193258
SMART Domains Protein: ENSMUSP00000141267
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 9e-3 SMART
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
low complexity region 419 443 N/A INTRINSIC
low complexity region 457 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192819
SMART Domains Protein: ENSMUSP00000142027
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 1e-3 SMART
low complexity region 85 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192932
SMART Domains Protein: ENSMUSP00000141215
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 3e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000194045
AA Change: C18G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194743
Predicted Effect probably benign
Transcript: ENSMUST00000207180
Predicted Effect probably benign
Transcript: ENSMUST00000207947
Predicted Effect probably benign
Transcript: ENSMUST00000208162
Predicted Effect probably benign
Transcript: ENSMUST00000208214
Predicted Effect probably benign
Transcript: ENSMUST00000208506
Predicted Effect probably null
Transcript: ENSMUST00000207810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207062
Predicted Effect probably null
Transcript: ENSMUST00000208581
Predicted Effect probably benign
Transcript: ENSMUST00000207790
Predicted Effect probably benign
Transcript: ENSMUST00000207734
Predicted Effect probably benign
Transcript: ENSMUST00000208177
Predicted Effect probably benign
Transcript: ENSMUST00000208962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207126
Predicted Effect probably benign
Transcript: ENSMUST00000208074
Predicted Effect probably null
Transcript: ENSMUST00000207862
Predicted Effect probably null
Transcript: ENSMUST00000207713
Predicted Effect probably benign
Transcript: ENSMUST00000194385
SMART Domains Protein: ENSMUSP00000142211
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1cy5a_ 9 45 8e-3 SMART
low complexity region 79 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195563
SMART Domains Protein: ENSMUSP00000141716
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 9e-3 SMART
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193348
SMART Domains Protein: ENSMUSP00000141691
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 1e-3 SMART
low complexity region 80 96 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195513
SMART Domains Protein: ENSMUSP00000142025
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 3e-4 SMART
Meta Mutation Damage Score 0.7973 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency 97% (87/90)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A G 10: 115,415,699 (GRCm39) probably null Het
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abce1 G A 8: 80,411,897 (GRCm39) Q588* probably null Het
Acads A T 5: 115,255,701 (GRCm39) C45S probably damaging Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Ano4 T A 10: 88,828,889 (GRCm39) I517F probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Blk A T 14: 63,613,364 (GRCm39) S381R possibly damaging Het
Capn15 C A 17: 26,183,203 (GRCm39) W426L probably damaging Het
Chd6 T C 2: 160,832,176 (GRCm39) T999A probably damaging Het
Clca3a2 A G 3: 144,503,398 (GRCm39) Y851H probably benign Het
Crp T A 1: 172,526,172 (GRCm39) W86R possibly damaging Het
Ctnnal1 G A 4: 56,812,534 (GRCm39) L705F probably benign Het
Cyp2c66 A G 19: 39,151,858 (GRCm39) D191G possibly damaging Het
Cyp4f37 A G 17: 32,853,639 (GRCm39) D441G probably damaging Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Eef1g A T 19: 8,955,330 (GRCm39) D393V possibly damaging Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Ephx2 A T 14: 66,322,183 (GRCm39) I538N probably damaging Het
Fat4 T A 3: 39,035,221 (GRCm39) S2958T possibly damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Gm10287 G T 3: 148,930,373 (GRCm39) noncoding transcript Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Gmcl1 T C 6: 86,674,498 (GRCm39) D460G probably benign Het
Gpr158 A G 2: 21,820,426 (GRCm39) D641G probably damaging Het
Heph C A X: 95,542,690 (GRCm39) S561Y probably benign Het
Hgfac A G 5: 35,200,257 (GRCm39) *90W probably null Het
Hp1bp3 C G 4: 137,949,497 (GRCm39) P65R probably damaging Het
Ighv6-4 T A 12: 114,370,221 (GRCm39) Y58F probably benign Het
Jrk T C 15: 74,578,412 (GRCm39) D291G possibly damaging Het
Kdm4d A G 9: 14,375,679 (GRCm39) Y60H probably damaging Het
Khdrbs3 T C 15: 68,921,291 (GRCm39) Y203H probably damaging Het
Klhl6 A T 16: 19,775,793 (GRCm39) V255D possibly damaging Het
Krt9 C T 11: 100,081,614 (GRCm39) R305H probably damaging Het
Lama2 T G 10: 26,860,490 (GRCm39) N2999T probably damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lipa A T 19: 34,488,328 (GRCm39) L106Q probably damaging Het
Llph A T 10: 120,067,141 (GRCm39) N86I probably damaging Het
Lyst T A 13: 13,826,297 (GRCm39) N1601K probably benign Het
Mc1r T A 8: 124,134,275 (GRCm39) S9R probably benign Het
Mfsd14a A G 3: 116,434,969 (GRCm39) I249T probably benign Het
Mtfp1 G A 11: 4,044,012 (GRCm39) R73C probably benign Het
Myo1a A G 10: 127,555,540 (GRCm39) Q877R probably benign Het
Nalcn A C 14: 123,831,965 (GRCm39) V103G possibly damaging Het
Ndst3 A T 3: 123,355,673 (GRCm39) F119I probably damaging Het
Or8k16 A G 2: 85,520,655 (GRCm39) N294S probably damaging Het
Patl1 T C 19: 11,902,596 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,430,408 (GRCm39) probably null Het
Pcdhb22 A C 18: 37,652,200 (GRCm39) T223P probably damaging Het
Pcdhga1 T A 18: 37,973,143 (GRCm39) N907K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Plpp6 T C 19: 28,941,684 (GRCm39) F95S probably damaging Het
Polr2b T A 5: 77,474,374 (GRCm39) probably benign Het
Ranbp2 A G 10: 58,328,383 (GRCm39) I2800V probably damaging Het
Rnf213 T C 11: 119,340,955 (GRCm39) V3532A probably benign Het
Rubcnl T C 14: 75,279,849 (GRCm39) S411P possibly damaging Het
Scn1a C A 2: 66,148,369 (GRCm39) G1059W probably damaging Het
Sgms1 C T 19: 32,137,282 (GRCm39) V95I probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc29a4 T C 5: 142,707,243 (GRCm39) *529R probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Sorl1 G A 9: 41,881,021 (GRCm39) Q2167* probably null Het
Stkld1 A G 2: 26,827,985 (GRCm39) probably benign Het
Taar8b T C 10: 23,967,900 (GRCm39) Y98C probably damaging Het
Tecta G A 9: 42,248,472 (GRCm39) L1977F probably damaging Het
Tecta G C 9: 42,248,636 (GRCm39) T1917R probably damaging Het
Topaz1 T A 9: 122,628,544 (GRCm39) S1544T probably benign Het
Tpx2 T C 2: 152,735,523 (GRCm39) I717T probably damaging Het
Tyk2 A T 9: 21,032,737 (GRCm39) V342E probably damaging Het
Ube4a A T 9: 44,856,235 (GRCm39) probably null Het
Unc80 A T 1: 66,549,876 (GRCm39) R711S possibly damaging Het
Ush2a C A 1: 188,558,665 (GRCm39) D3631E probably benign Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wif1 A G 10: 120,920,824 (GRCm39) I215M probably benign Het
Wnk1 T C 6: 119,928,050 (GRCm39) T1134A probably damaging Het
Xxylt1 A G 16: 30,776,235 (GRCm39) V367A probably damaging Het
Zfp735 A T 11: 73,601,412 (GRCm39) K119* probably null Het
Other mutations in Qars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01570:Qars1 APN 9 108,388,738 (GRCm39) missense probably damaging 1.00
IGL02336:Qars1 APN 9 108,392,185 (GRCm39) nonsense probably null
IGL02393:Qars1 APN 9 108,391,528 (GRCm39) missense probably benign 0.00
IGL03102:Qars1 APN 9 108,386,118 (GRCm39) missense probably benign 0.35
R0576:Qars1 UTSW 9 108,392,161 (GRCm39) intron probably benign
R1777:Qars1 UTSW 9 108,385,400 (GRCm39) critical splice donor site probably null
R1824:Qars1 UTSW 9 108,391,809 (GRCm39) missense probably damaging 1.00
R1897:Qars1 UTSW 9 108,391,282 (GRCm39) nonsense probably null
R1952:Qars1 UTSW 9 108,390,380 (GRCm39) missense probably benign 0.35
R1981:Qars1 UTSW 9 108,392,227 (GRCm39) missense probably damaging 1.00
R2172:Qars1 UTSW 9 108,386,399 (GRCm39) missense probably damaging 1.00
R2698:Qars1 UTSW 9 108,385,642 (GRCm39) missense possibly damaging 0.65
R4381:Qars1 UTSW 9 108,387,382 (GRCm39) unclassified probably benign
R4608:Qars1 UTSW 9 108,386,625 (GRCm39) splice site probably null
R4677:Qars1 UTSW 9 108,386,889 (GRCm39) unclassified probably benign
R4974:Qars1 UTSW 9 108,386,130 (GRCm39) missense probably damaging 1.00
R5234:Qars1 UTSW 9 108,391,364 (GRCm39) missense probably damaging 1.00
R5548:Qars1 UTSW 9 108,390,117 (GRCm39) missense possibly damaging 0.72
R5817:Qars1 UTSW 9 108,387,441 (GRCm39) unclassified probably benign
R6029:Qars1 UTSW 9 108,390,889 (GRCm39) missense probably damaging 1.00
R6110:Qars1 UTSW 9 108,385,297 (GRCm39) missense probably benign 0.02
R6889:Qars1 UTSW 9 108,390,382 (GRCm39) missense probably damaging 0.98
R7034:Qars1 UTSW 9 108,391,976 (GRCm39) missense probably damaging 1.00
R7036:Qars1 UTSW 9 108,391,976 (GRCm39) missense probably damaging 1.00
R7136:Qars1 UTSW 9 108,389,971 (GRCm39) missense probably damaging 1.00
R7178:Qars1 UTSW 9 108,392,322 (GRCm39) missense possibly damaging 0.50
R7192:Qars1 UTSW 9 108,388,760 (GRCm39) missense probably damaging 1.00
R7235:Qars1 UTSW 9 108,387,331 (GRCm39) missense probably damaging 1.00
R7813:Qars1 UTSW 9 108,386,670 (GRCm39) missense probably damaging 1.00
R8248:Qars1 UTSW 9 108,386,651 (GRCm39) missense probably benign 0.00
R8558:Qars1 UTSW 9 108,392,422 (GRCm39) missense probably benign
R9126:Qars1 UTSW 9 108,386,399 (GRCm39) missense probably damaging 1.00
R9245:Qars1 UTSW 9 108,386,132 (GRCm39) nonsense probably null
R9632:Qars1 UTSW 9 108,391,582 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGTTTTCCACCAGAGGCTATC -3'
(R):5'- GGTGGAAACCCTTGGTCTCATC -3'

Sequencing Primer
(F):5'- GAGGCTATCAACAACTTCTGTGC -3'
(R):5'- CTCATCAGCTGGGAAATTTGGCAC -3'
Posted On 2014-06-30