Incidental Mutation 'IGL02989:Eprs1'
ID 406861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eprs1
Ensembl Gene ENSMUSG00000026615
Gene Name glutamyl-prolyl-tRNA synthetase 1
Synonyms 3010002K18Rik, 2410081F06Rik, Qprs, Eprs
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02989
Quality Score
Status
Chromosome 1
Chromosomal Location 185095241-185160557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 185150563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 1355 (F1355C)
Ref Sequence ENSEMBL: ENSMUSP00000045841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046514]
AlphaFold Q8CGC7
Predicted Effect probably benign
Transcript: ENSMUST00000046514
AA Change: F1355C

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: F1355C

DomainStartEndE-ValueType
Pfam:GST_C_3 71 156 2.1e-15 PFAM
Pfam:GST_C 72 157 2.9e-7 PFAM
Pfam:tRNA-synt_1c 197 502 8.8e-127 PFAM
Pfam:tRNA-synt_1c_C 504 681 4.4e-42 PFAM
WHEP-TRS 753 815 1.26e-25 SMART
WHEP-TRS 826 888 1.47e-26 SMART
WHEP-TRS 904 966 3.76e-24 SMART
low complexity region 984 1011 N/A INTRINSIC
Pfam:tRNA-synt_2b 1107 1287 3.1e-17 PFAM
Pfam:HGTP_anticodon 1303 1404 1.7e-19 PFAM
ProRS-C_1 1430 1512 5.27e-28 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit normal body weight, life span and glucose metabolism. Mice homozygous for a phospho-deficient allele exhibit decrease body weight, enhanced lipolysis, altered glucose metabolism and increased energy expenditure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 T A 19: 20,617,422 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,670,748 (GRCm39) D44G probably damaging Het
Arhgap35 A T 7: 16,231,580 (GRCm39) *1500R probably null Het
Arid1b A G 17: 5,385,322 (GRCm39) Y1413C probably damaging Het
Atf6 A G 1: 170,616,252 (GRCm39) probably benign Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Cat A G 2: 103,303,318 (GRCm39) F153S probably damaging Het
Ccdc187 G A 2: 26,166,443 (GRCm39) R712W possibly damaging Het
Clpb T C 7: 101,428,427 (GRCm39) S396P probably damaging Het
Cntnap5a A G 1: 116,339,813 (GRCm39) probably benign Het
Dap3 G A 3: 88,837,878 (GRCm39) probably benign Het
Dnah6 T A 6: 73,046,403 (GRCm39) D3195V probably damaging Het
Faim2 A G 15: 99,418,243 (GRCm39) probably benign Het
Fancg A G 4: 43,007,121 (GRCm39) probably benign Het
Fbxo42 T A 4: 140,926,845 (GRCm39) I375N probably damaging Het
Gabrr3 A T 16: 59,268,371 (GRCm39) D328V probably damaging Het
Gm5849 T A 3: 90,685,107 (GRCm39) D26V probably damaging Het
Gm6563 T C 19: 23,653,234 (GRCm39) L8P possibly damaging Het
Gpld1 A G 13: 25,174,019 (GRCm39) N815D possibly damaging Het
Hrob A G 11: 102,146,125 (GRCm39) I134V probably benign Het
Idh2 T A 7: 79,748,856 (GRCm39) I142F probably damaging Het
Kcnh7 A C 2: 62,552,269 (GRCm39) N907K probably benign Het
Mcm3ap A G 10: 76,306,894 (GRCm39) T336A possibly damaging Het
Or4c15 A T 2: 88,760,048 (GRCm39) S204T possibly damaging Het
Or52i2 T C 7: 102,319,651 (GRCm39) S175P possibly damaging Het
Or5b3 C A 19: 13,388,850 (GRCm39) Q306K probably benign Het
Pilrb1 C A 5: 137,855,492 (GRCm39) R133L possibly damaging Het
Pitpnm3 C A 11: 72,011,012 (GRCm39) probably benign Het
Prkdc C T 16: 15,617,880 (GRCm39) T3237I possibly damaging Het
Pspc1 A G 14: 57,009,153 (GRCm39) probably benign Het
Rasgrp4 G A 7: 28,847,831 (GRCm39) E414K probably damaging Het
Rgs12 T A 5: 35,122,463 (GRCm39) L82Q probably damaging Het
Sh3gl3 T C 7: 81,923,087 (GRCm39) V117A probably benign Het
Shisa5 G A 9: 108,885,062 (GRCm39) A112T probably damaging Het
Tasor2 A T 13: 3,634,820 (GRCm39) H662Q probably benign Het
Tedc1 A G 12: 113,126,941 (GRCm39) E401G probably benign Het
Tsc22d1 T C 14: 76,656,341 (GRCm39) M940T probably benign Het
Vmn1r129 A T 7: 21,094,663 (GRCm39) V185E probably damaging Het
Zfp982 C A 4: 147,597,052 (GRCm39) D136E possibly damaging Het
Other mutations in Eprs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00528:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00532:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00543:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00553:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00574:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00583:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00946:Eprs1 APN 1 185,139,898 (GRCm39) missense probably benign 0.02
IGL01062:Eprs1 APN 1 185,111,812 (GRCm39) missense probably benign 0.19
IGL01477:Eprs1 APN 1 185,143,572 (GRCm39) splice site probably benign
IGL01608:Eprs1 APN 1 185,117,311 (GRCm39) unclassified probably benign
IGL01767:Eprs1 APN 1 185,117,112 (GRCm39) missense probably damaging 0.98
IGL02136:Eprs1 APN 1 185,117,180 (GRCm39) missense probably damaging 1.00
IGL02302:Eprs1 APN 1 185,119,321 (GRCm39) splice site probably benign
IGL02528:Eprs1 APN 1 185,145,686 (GRCm39) missense probably damaging 1.00
IGL02631:Eprs1 APN 1 185,160,095 (GRCm39) missense probably damaging 1.00
IGL03004:Eprs1 APN 1 185,114,030 (GRCm39) missense probably damaging 1.00
R0003:Eprs1 UTSW 1 185,146,588 (GRCm39) missense probably damaging 1.00
R0003:Eprs1 UTSW 1 185,146,588 (GRCm39) missense probably damaging 1.00
R0179:Eprs1 UTSW 1 185,145,744 (GRCm39) missense probably benign
R0783:Eprs1 UTSW 1 185,130,655 (GRCm39) missense probably damaging 1.00
R1319:Eprs1 UTSW 1 185,117,159 (GRCm39) missense probably damaging 1.00
R1335:Eprs1 UTSW 1 185,119,286 (GRCm39) missense probably damaging 1.00
R1514:Eprs1 UTSW 1 185,114,031 (GRCm39) missense probably damaging 0.99
R1590:Eprs1 UTSW 1 185,133,707 (GRCm39) missense probably damaging 1.00
R1688:Eprs1 UTSW 1 185,117,093 (GRCm39) missense probably damaging 0.99
R1725:Eprs1 UTSW 1 185,139,189 (GRCm39) missense probably damaging 1.00
R2182:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R2228:Eprs1 UTSW 1 185,099,734 (GRCm39) missense probably damaging 1.00
R2336:Eprs1 UTSW 1 185,143,571 (GRCm39) splice site probably benign
R2338:Eprs1 UTSW 1 185,148,005 (GRCm39) missense probably damaging 1.00
R2439:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R2914:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R3001:Eprs1 UTSW 1 185,156,588 (GRCm39) critical splice donor site probably null
R3002:Eprs1 UTSW 1 185,156,588 (GRCm39) critical splice donor site probably null
R3003:Eprs1 UTSW 1 185,156,588 (GRCm39) critical splice donor site probably null
R3547:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R3775:Eprs1 UTSW 1 185,105,205 (GRCm39) missense probably damaging 1.00
R3878:Eprs1 UTSW 1 185,148,150 (GRCm39) critical splice donor site probably null
R3902:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R3913:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R4579:Eprs1 UTSW 1 185,133,804 (GRCm39) missense probably damaging 1.00
R4664:Eprs1 UTSW 1 185,105,273 (GRCm39) intron probably benign
R4680:Eprs1 UTSW 1 185,118,475 (GRCm39) missense possibly damaging 0.87
R4712:Eprs1 UTSW 1 185,160,305 (GRCm39) missense probably benign 0.00
R4749:Eprs1 UTSW 1 185,128,327 (GRCm39) missense probably damaging 0.97
R4995:Eprs1 UTSW 1 185,142,336 (GRCm39) intron probably benign
R5154:Eprs1 UTSW 1 185,145,662 (GRCm39) missense probably damaging 1.00
R5640:Eprs1 UTSW 1 185,106,381 (GRCm39) missense probably benign 0.34
R5662:Eprs1 UTSW 1 185,126,622 (GRCm39) missense possibly damaging 0.72
R6037:Eprs1 UTSW 1 185,128,306 (GRCm39) missense probably damaging 1.00
R6037:Eprs1 UTSW 1 185,128,306 (GRCm39) missense probably damaging 1.00
R6151:Eprs1 UTSW 1 185,139,951 (GRCm39) critical splice donor site probably null
R6387:Eprs1 UTSW 1 185,119,281 (GRCm39) missense possibly damaging 0.94
R6647:Eprs1 UTSW 1 185,146,621 (GRCm39) missense probably damaging 1.00
R6701:Eprs1 UTSW 1 185,103,087 (GRCm39) missense probably damaging 0.99
R6997:Eprs1 UTSW 1 185,128,360 (GRCm39) missense possibly damaging 0.50
R7295:Eprs1 UTSW 1 185,150,407 (GRCm39) critical splice acceptor site probably null
R7305:Eprs1 UTSW 1 185,111,898 (GRCm39) missense probably damaging 1.00
R7729:Eprs1 UTSW 1 185,145,366 (GRCm39) missense probably damaging 1.00
R7732:Eprs1 UTSW 1 185,105,136 (GRCm39) missense probably benign 0.01
R7733:Eprs1 UTSW 1 185,129,358 (GRCm39) missense probably benign
R7826:Eprs1 UTSW 1 185,139,165 (GRCm39) missense probably damaging 0.96
R7988:Eprs1 UTSW 1 185,150,545 (GRCm39) missense probably damaging 1.00
R8071:Eprs1 UTSW 1 185,126,653 (GRCm39) missense possibly damaging 0.67
R8157:Eprs1 UTSW 1 185,130,591 (GRCm39) missense probably benign 0.21
R8209:Eprs1 UTSW 1 185,139,812 (GRCm39) missense possibly damaging 0.71
R8370:Eprs1 UTSW 1 185,131,454 (GRCm39) missense probably damaging 0.98
R8493:Eprs1 UTSW 1 185,139,371 (GRCm39) nonsense probably null
R8556:Eprs1 UTSW 1 185,152,485 (GRCm39) critical splice donor site probably null
R8877:Eprs1 UTSW 1 185,148,071 (GRCm39) nonsense probably null
R9096:Eprs1 UTSW 1 185,139,303 (GRCm39) missense probably benign 0.03
R9097:Eprs1 UTSW 1 185,139,303 (GRCm39) missense probably benign 0.03
R9112:Eprs1 UTSW 1 185,129,273 (GRCm39) missense probably damaging 1.00
R9189:Eprs1 UTSW 1 185,106,334 (GRCm39) missense possibly damaging 0.89
R9489:Eprs1 UTSW 1 185,139,896 (GRCm39) missense probably benign 0.00
R9489:Eprs1 UTSW 1 185,139,895 (GRCm39) missense probably benign 0.20
R9518:Eprs1 UTSW 1 185,111,763 (GRCm39) missense probably benign 0.00
R9586:Eprs1 UTSW 1 185,139,746 (GRCm39) missense
Posted On 2016-08-02