Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01062:Eprs1'

50170

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 #

IGL01062

Quality Score

Status

Chromosome

Chromosomal Location

185095241-185160557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 185111812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 274 (E274G)

Ref Sequence

ENSEMBL: ENSMUSP00000045841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046514] [ENSMUST00000191900] [ENSMUST00000195824]

AlphaFold

Q8CGC7

Predicted Effect

probably benign
Transcript: ENSMUST00000046514
AA Change: E274G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: E274G

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably benign
Transcript: ENSMUST00000191900

SMART Domains

Protein: ENSMUSP00000141467
Gene: ENSMUSG00000026615

Domain	Start	End	E-Value	Type
Pfam:GST_C	66	131	1.7e-4	PFAM
Pfam:GST_C_3	70	131	8.9e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193788

Predicted Effect

probably benign
Transcript: ENSMUST00000195824

SMART Domains

Protein: ENSMUSP00000141550
Gene: ENSMUSG00000026615

Domain	Start	End	E-Value	Type
Pfam:GST_C	33	96	8.4e-5	PFAM
Pfam:GST_C_3	35	96	3.9e-11	PFAM

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Amer3	A	G	1: 34,625,820 (GRCm39)	K20E	probably damaging	Het
Arhgap31	A	G	16: 38,421,818 (GRCm39)	L1416P	probably damaging	Het
Avpr1a	G	A	10: 122,285,434 (GRCm39)	C242Y	probably damaging	Het
Bclaf3	T	C	X: 158,336,415 (GRCm39)	Y281H	probably benign	Het
Cdc14a	T	A	3: 116,068,361 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cntn4	T	C	6: 106,595,239 (GRCm39)		probably benign	Het
Cyp3a44	T	A	5: 145,731,149 (GRCm39)	D217V	possibly damaging	Het
Ercc6l2	G	T	13: 63,995,268 (GRCm39)	Q354H	probably null	Het
Glb1l	A	T	1: 75,177,882 (GRCm39)	I392N	probably damaging	Het
Gm3173	T	C	14: 15,728,472 (GRCm39)		probably null	Het
Hadh	C	T	3: 131,034,640 (GRCm39)	V219M	probably damaging	Het
Hspb9	A	G	11: 100,604,761 (GRCm39)	H29R	possibly damaging	Het
Iqgap3	G	T	3: 88,017,429 (GRCm39)	V240L	probably benign	Het
Jmjd1c	T	C	10: 67,062,494 (GRCm39)	S1616P	probably damaging	Het
Knl1	A	G	2: 118,907,461 (GRCm39)	I1662V	probably benign	Het
Maco1	A	T	4: 134,560,608 (GRCm39)	V125E	probably damaging	Het
Mapre3	A	G	5: 31,022,240 (GRCm39)	I236V	probably benign	Het
Med17	T	C	9: 15,190,917 (GRCm39)	E58G	probably benign	Het
Myh6	T	C	14: 55,189,749 (GRCm39)	E1099G	probably damaging	Het
Myt1	T	A	2: 181,439,522 (GRCm39)	V348D	probably damaging	Het
Nat10	A	T	2: 103,573,393 (GRCm39)	I368N	probably damaging	Het
Nol6	T	C	4: 41,118,205 (GRCm39)	I811V	probably benign	Het
Oas1d	C	A	5: 121,057,127 (GRCm39)	Y244*	probably null	Het
Or6e1	A	T	14: 54,520,181 (GRCm39)	M57K	probably damaging	Het
Osbpl1a	A	G	18: 13,038,132 (GRCm39)	V273A	probably benign	Het
Pigw	T	C	11: 84,768,769 (GRCm39)	R187G	probably benign	Het
Plekhg5	G	A	4: 152,192,953 (GRCm39)	D603N	probably damaging	Het
Ptprk	T	C	10: 28,456,414 (GRCm39)	V1058A	probably damaging	Het
Robo4	G	A	9: 37,317,296 (GRCm39)	S537N	probably benign	Het
Rptn	T	A	3: 93,304,489 (GRCm39)	F607L	probably benign	Het
Sall1	A	G	8: 89,759,972 (GRCm39)	V44A	probably damaging	Het
Sh3bp4	C	A	1: 89,071,682 (GRCm39)	Q177K	probably benign	Het
Skic3	T	A	13: 76,303,581 (GRCm39)	L1225*	probably null	Het
Spmip6	T	A	4: 41,511,433 (GRCm39)	E93D	probably damaging	Het
Srrt	C	A	5: 137,294,569 (GRCm39)	G779V	probably damaging	Het
Tamalin	A	G	15: 101,126,777 (GRCm39)		probably benign	Het
Tex21	T	C	12: 76,245,718 (GRCm39)	D526G	probably benign	Het
Vmn1r10	A	G	6: 57,090,821 (GRCm39)	S138G	possibly damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zfp454	T	C	11: 50,765,033 (GRCm39)	E22G	probably benign	Het
Zzef1	T	A	11: 72,765,795 (GRCm39)	C1441S	probably benign	Het

Other mutations in Eprs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
IGL02989:Eprs1	APN	1	185,150,563 (GRCm39)	missense	probably benign	0.31
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

2013-06-21