Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02136:Eprs1'

281327

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 #

IGL02136

Quality Score

Status

Chromosome

Chromosomal Location

185095241-185160557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 185117180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 408 (W408G)

Ref Sequence

ENSEMBL: ENSMUSP00000045841 (fasta)

Gene Model

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

AlphaFold

Q8CGC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000046514
AA Change: W408G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: W408G

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,286,301 (GRCm39)	T2511K	probably damaging	Het
Acta2	T	A	19: 34,229,230 (GRCm39)	D53V	probably damaging	Het
Banf1	G	A	19: 5,415,098 (GRCm39)	A71V	probably benign	Het
Cacng5	A	T	11: 107,772,557 (GRCm39)	I97N	probably benign	Het
Clec14a	T	A	12: 58,315,415 (GRCm39)	E69V	probably damaging	Het
Cracr2a	T	C	6: 127,606,893 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,085,149 (GRCm39)	R845G	probably benign	Het
Dzip3	T	C	16: 48,747,945 (GRCm39)	N949S	possibly damaging	Het
Fgf14	G	A	14: 124,217,784 (GRCm39)	P240S	possibly damaging	Het
Fpgt	G	T	3: 154,798,989 (GRCm39)	A2E	probably benign	Het
Galntl5	T	A	5: 25,425,060 (GRCm39)	S392R	probably benign	Het
Gatd1	A	G	7: 140,988,873 (GRCm39)	*221Q	probably null	Het
Gcsam	T	A	16: 45,430,896 (GRCm39)	M1K	probably null	Het
Ksr2	A	G	5: 117,754,959 (GRCm39)	N351S	possibly damaging	Het
Map1a	T	C	2: 121,130,693 (GRCm39)	V503A	probably damaging	Het
Myl12a	T	A	17: 71,303,851 (GRCm39)	K9*	probably null	Het
Ncapg2	A	T	12: 116,424,203 (GRCm39)	M1129L	probably benign	Het
Or11g2	T	C	14: 50,855,708 (GRCm39)	S10P	possibly damaging	Het
Or8k41	T	C	2: 86,313,809 (GRCm39)	I92M	probably damaging	Het
Otof	T	C	5: 30,531,336 (GRCm39)	K1691E	possibly damaging	Het
Pdk4	A	T	6: 5,486,715 (GRCm39)	M353K	probably damaging	Het
Pkhd1	A	T	1: 20,345,839 (GRCm39)	W2730R	probably damaging	Het
Pkn2	T	A	3: 142,559,351 (GRCm39)	K58I	probably damaging	Het
Plk5	T	C	10: 80,199,001 (GRCm39)		probably null	Het
Prkcq	T	C	2: 11,265,479 (GRCm39)	F399L	probably benign	Het
Ptprz1	G	A	6: 22,972,821 (GRCm39)	V244M	probably damaging	Het
Rpusd2	T	C	2: 118,868,659 (GRCm39)	F361L	probably damaging	Het
Rttn	T	A	18: 89,064,252 (GRCm39)	L1168I	possibly damaging	Het
S100a9	T	C	3: 90,600,075 (GRCm39)	H107R	probably benign	Het
Serpinb3a	T	A	1: 106,974,015 (GRCm39)	M299L	probably benign	Het
Slfn8	G	A	11: 82,894,291 (GRCm39)	Q783*	probably null	Het
Smc3	T	C	19: 53,624,147 (GRCm39)	I721T	probably benign	Het
Top2b	C	A	14: 16,407,103 (GRCm38)		probably benign	Het
Uvssa	T	A	5: 33,549,192 (GRCm39)	W351R	probably damaging	Het
Vmn2r107	G	T	17: 20,595,168 (GRCm39)	V574L	probably benign	Het
Wdr3	G	A	3: 100,046,041 (GRCm39)	R931*	probably null	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
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
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

2015-04-16