Mutagenetix > Incidental Mutation

Incidental Mutation 'R3902:Eprs1'

309218

Institutional Source

Beutler Lab

Gene Symbol

Eprs1

Ensembl Gene

ENSMUSG00000026615

Gene Name

glutamyl-prolyl-tRNA synthetase 1

Synonyms

3010002K18Rik, 2410081F06Rik, Qprs, Eprs

MMRRC Submission

040811-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3902 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

185095241-185160557 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 185111939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045841 (fasta)

Gene Model

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

AlphaFold

Q8CGC7

Predicted Effect

probably null
Transcript: ENSMUST00000046514

SMART Domains

Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atmin	A	G	8: 117,683,036 (GRCm39)	N232S	probably benign	Het
Brat1	A	C	5: 140,703,751 (GRCm39)	D668A	possibly damaging	Het
Eif2b3	C	T	4: 116,879,404 (GRCm39)	R15W	probably damaging	Het
F5	A	G	1: 164,003,798 (GRCm39)	T198A	probably benign	Het
Fbxl20	T	A	11: 97,987,861 (GRCm39)	T61S	probably benign	Het
Fry	A	G	5: 150,269,392 (GRCm39)	E211G	probably damaging	Het
Gatd1	A	G	7: 140,989,014 (GRCm39)	L215P	probably damaging	Het
Gys2	A	G	6: 142,418,526 (GRCm39)	M1T	probably null	Het
Hacd4	A	C	4: 88,355,738 (GRCm39)	I49R	probably damaging	Het
Jph3	G	T	8: 122,480,158 (GRCm39)	D279Y	possibly damaging	Het
Klhl26	T	C	8: 70,905,016 (GRCm39)	D217G	probably damaging	Het
Kmt2e	A	G	5: 23,706,640 (GRCm39)	N1401S	probably benign	Het
Mettl21a	C	T	1: 64,647,240 (GRCm39)	V106I	probably benign	Het
Mpdz	A	G	4: 81,225,353 (GRCm39)	V1427A	probably damaging	Het
Mug2	A	T	6: 122,052,526 (GRCm39)	D1024V	probably damaging	Het
Myl7	T	A	11: 5,848,430 (GRCm39)	K38M	probably damaging	Het
Myl7	T	G	11: 5,848,431 (GRCm39)	K38Q	probably damaging	Het
Myom2	T	C	8: 15,154,165 (GRCm39)	V701A	probably benign	Het
Nipbl	A	G	15: 8,379,730 (GRCm39)	S1021P	possibly damaging	Het
Optc	A	G	1: 133,825,701 (GRCm39)	M275T	probably benign	Het
Pclo	A	T	5: 14,762,536 (GRCm39)	T385S	probably benign	Het
Pdgfra	T	A	5: 75,353,169 (GRCm39)	N986K	probably benign	Het
Pira1	G	A	7: 3,740,276 (GRCm39)	T315I	probably damaging	Het
Plekhn1	T	A	4: 156,310,126 (GRCm39)	I63F	possibly damaging	Het
Pogk	C	T	1: 166,231,193 (GRCm39)	V45I	probably damaging	Het
Rassf1	A	G	9: 107,432,039 (GRCm39)	Y21C	probably damaging	Het
Slc12a1	A	T	2: 125,030,113 (GRCm39)	I562F	probably damaging	Het
Slc16a6	A	G	11: 109,349,387 (GRCm39)	S141P	probably damaging	Het
Sntn	T	C	14: 13,679,084 (GRCm38)	L86P	probably damaging	Het
Styx-ps	A	G	X: 67,865,253 (GRCm39)	M101V	probably benign	Het
Taar4	T	A	10: 23,836,913 (GRCm39)	N174K	probably damaging	Het
Trav12-3	G	T	14: 53,859,486 (GRCm39)	C44F	probably damaging	Het
Triml2	A	G	8: 43,643,397 (GRCm39)	R240G	probably benign	Het
Vmn1r3	A	G	4: 3,185,241 (GRCm39)	M22T	probably benign	Het
Vmn2r7	C	A	3: 64,626,937 (GRCm39)	Q26H	possibly damaging	Het
Vmn2r72	T	C	7: 85,398,943 (GRCm39)	D470G	possibly damaging	Het
Xpo6	A	G	7: 125,719,581 (GRCm39)	Y602H	probably damaging	Het
Zfp287	T	C	11: 62,603,028 (GRCm39)	T241A	probably benign	Het
Zfp386	A	G	12: 116,023,775 (GRCm39)	K498E	probably damaging	Het
Zzef1	T	C	11: 72,799,326 (GRCm39)	L2392P	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTTGGAAGATGTTGCAATGC -3'
(R):5'- AGATACAGCTCTGAGAAGCTGC -3'

Sequencing Primer
(F):5'- CAATGCTGCATATTAAACCAGATCAG -3'
(R):5'- TCCTAACACTTACGAGGCTGAGG -3'

Posted On

2015-04-17