Mutagenetix > Incidental Mutation

Incidental Mutation 'R8370:Eprs1'

646328

Institutional Source

Beutler Lab

Gene Symbol

Eprs1

Ensembl Gene

ENSMUSG00000026615

Gene Name

glutamyl-prolyl-tRNA synthetase 1

Synonyms

3010002K18Rik, 2410081F06Rik, Qprs, Eprs

MMRRC Submission

067809-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8370 (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 A at 185131454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 700 (I700K)

Ref Sequence

ENSEMBL: ENSMUSP00000045841 (fasta)

Gene Model

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

AlphaFold

Q8CGC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000046514
AA Change: I700K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: I700K

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: 99.6%
20x: 98.8%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,696,881 (GRCm39)	V92A	possibly damaging	Het
Armc2	T	A	10: 41,799,833 (GRCm39)	N675I	possibly damaging	Het
Cav1	A	G	6: 17,339,293 (GRCm39)	H126R	possibly damaging	Het
Ccdc202	T	C	14: 96,119,930 (GRCm39)	L229P	probably damaging	Het
Clca4b	A	G	3: 144,631,824 (GRCm39)	F227S	probably damaging	Het
Clec4a4	G	A	6: 122,968,758 (GRCm39)	G41D	probably damaging	Het
Commd1	A	T	11: 22,932,104 (GRCm39)	L51Q	probably damaging	Het
Dhx57	A	T	17: 80,553,192 (GRCm39)	V1245D	probably damaging	Het
Ephb2	A	G	4: 136,383,302 (GRCm39)	I925T	possibly damaging	Het
Fry	C	A	5: 150,319,284 (GRCm39)	T983K	probably damaging	Het
Gm14325	T	C	2: 177,474,385 (GRCm39)	I232M	probably benign	Het
Golgb1	A	G	16: 36,732,679 (GRCm39)	H683R	probably benign	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kif9	C	T	9: 110,317,681 (GRCm39)	R113C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Lama5	T	C	2: 179,843,280 (GRCm39)	E489G	possibly damaging	Het
Lhb	A	G	7: 45,071,066 (GRCm39)	D97G	probably damaging	Het
Lrp1b	T	C	2: 40,888,117 (GRCm39)	D2381G		Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mmp17	A	G	5: 129,682,642 (GRCm39)	D427G	probably damaging	Het
Mrps18b	T	C	17: 36,223,254 (GRCm39)	I131V	probably benign	Het
Nav1	T	A	1: 135,398,882 (GRCm39)	K567*	probably null	Het
Ncam1	T	A	9: 49,468,431 (GRCm39)	R343*	probably null	Het
Nfrkb	T	A	9: 31,316,875 (GRCm39)	N591K	probably damaging	Het
Numb	A	T	12: 83,854,974 (GRCm39)	C117*	probably null	Het
Or5b123	T	A	19: 13,596,661 (GRCm39)	I2N	probably damaging	Het
Or6ae1	A	T	7: 139,742,681 (GRCm39)	Y61N	probably damaging	Het
Pfpl	A	T	19: 12,407,275 (GRCm39)	N509Y	probably damaging	Het
Prss58	C	A	6: 40,872,358 (GRCm39)	G222C	probably damaging	Het
Ptx4	C	A	17: 25,342,314 (GRCm39)	P263Q	possibly damaging	Het
Ribc2	T	G	15: 85,027,489 (GRCm39)	H323Q	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Smchd1	G	A	17: 71,701,908 (GRCm39)	T1028M	probably benign	Het
Spata31d1e	T	C	13: 59,891,766 (GRCm39)	D18G	probably benign	Het
Srebf1	T	C	11: 60,093,022 (GRCm39)	I806V	probably benign	Het
Trim14	A	T	4: 46,523,711 (GRCm39)	L109Q	probably damaging	Het
Wdfy4	A	T	14: 32,815,208 (GRCm39)	H1602Q		Het
Zbtb48	A	G	4: 152,105,744 (GRCm39)		probably null	Het
Zranb3	T	C	1: 127,895,670 (GRCm39)	E726G	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
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
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'- CCCTTTTAGATTAGTACAGGAGGG -3'
(R):5'- CAGCAAAACAGCACTTCTTGTC -3'

Sequencing Primer
(F):5'- ATCATACCCACTCTTAGTTAACTGG -3'
(R):5'- GCAAAACAGCACTTCTTGTCTTCTTC -3'

Posted On

2020-09-02