Mutagenetix > Incidental Mutation

Incidental Mutation 'R9586:Eprs1'

722783

Institutional Source

Beutler Lab

Gene Symbol

Eprs1

Ensembl Gene

ENSMUSG00000026615

Gene Name

glutamyl-prolyl-tRNA synthetase 1

Synonyms

3010002K18Rik, 2410081F06Rik, Qprs, Eprs

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9586 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

185095241-185160557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 185139746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 945 (L945P)

Ref Sequence

ENSEMBL: ENSMUSP00000045841 (fasta)

Gene Model

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

AlphaFold

Q8CGC7

Predicted Effect

SMART Domains

Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: L945P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl6ip5	C	T	6: 97,206,572 (GRCm39)	A84V	possibly damaging	Het
Cep170	G	A	1: 176,563,463 (GRCm39)	P716L	possibly damaging	Het
Chrm3	A	T	13: 9,927,480 (GRCm39)	C519S	probably damaging	Het
Dnase1l3	A	T	14: 7,967,796 (GRCm38)	V299D	possibly damaging	Het
Dync1h1	T	C	12: 110,582,975 (GRCm39)	L386P	probably damaging	Het
Elmo3	A	G	8: 106,034,760 (GRCm39)	Y382C	probably damaging	Het
Fstl4	A	T	11: 53,077,729 (GRCm39)	I829L	probably benign	Het
Gm36210	T	A	7: 4,909,324 (GRCm39)	R45*	probably null	Het
Homer2	C	T	7: 81,260,113 (GRCm39)	R318Q	probably benign	Het
Ice2	G	A	9: 69,314,478 (GRCm39)	E76K	probably damaging	Het
Ifi203	T	A	1: 173,754,623 (GRCm39)	R703*	probably null	Het
Insyn2a	T	C	7: 134,520,180 (GRCm39)	T117A	probably damaging	Het
Lonp1	G	A	17: 56,924,839 (GRCm39)	R523C	probably damaging	Het
Myh10	G	A	11: 68,703,820 (GRCm39)	V1881I	possibly damaging	Het
Nfe2	T	C	15: 103,157,244 (GRCm39)	D249G	probably damaging	Het
Nvl	A	T	1: 180,932,635 (GRCm39)		probably null	Het
Oog3	A	T	4: 143,884,966 (GRCm39)	C323*	probably null	Het
Ovgp1	A	G	3: 105,881,138 (GRCm39)	R3G	probably damaging	Het
Pex1	A	G	5: 3,676,047 (GRCm39)	I838M	probably damaging	Het
Rps6kc1	C	A	1: 190,514,774 (GRCm39)	M1006I	probably benign	Het
Rpusd1	A	G	17: 25,947,292 (GRCm39)	T37A	probably damaging	Het
Sema6d	C	A	2: 124,496,096 (GRCm39)	R47S	probably damaging	Het
Serpini2	G	A	3: 75,166,891 (GRCm39)	T122I	probably benign	Het
Slc10a7	A	G	8: 79,456,266 (GRCm39)	I289M	probably damaging	Het
Slc25a37	G	T	14: 69,482,421 (GRCm39)	N293K	probably benign	Het
Sspo	G	A	6: 48,458,039 (GRCm39)	A3281T	probably benign	Het
Stard13	A	T	5: 150,985,832 (GRCm39)	N559K	possibly damaging	Het
Tmem87b	T	A	2: 128,660,260 (GRCm39)	M1K	probably null	Het
Vmn1r199	C	T	13: 22,567,716 (GRCm39)	R337C	probably benign	Het
Vmn1r55	T	A	7: 5,149,770 (GRCm39)	N218Y	probably benign	Het
Vmn2r41	T	G	7: 8,141,742 (GRCm39)	Q574P		Het
Vmn2r45	T	C	7: 8,486,050 (GRCm39)	N413D	probably benign	Het
Wdr33	T	C	18: 31,966,669 (GRCm39)	S170P	probably damaging	Het
Zfp385a	A	T	15: 103,241,580 (GRCm39)	I20N	probably damaging	Het
Zfp493	A	G	13: 67,932,017 (GRCm39)	S39G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGCCATGTGTATCTAGTGACTGC -3'
(R):5'- AAACACGTCTCAGCACCTGG -3'

Sequencing Primer
(F):5'- GTCAAGACAGTGCATAGATCATCTG -3'
(R):5'- CAGCACCTGGTCTGTTTCTTAGG -3'

Posted On

2022-08-09