Mutagenetix > Incidental Mutation

Incidental Mutation 'R8516:Eif2s1'

656167

Institutional Source

Beutler Lab

Gene Symbol

Eif2s1

Ensembl Gene

ENSMUSG00000021116

Gene Name

eukaryotic translation initiation factor 2, subunit 1 alpha

Synonyms

0910001O23Rik, Eif2a, eIF2alpha, 2410026C18Rik

MMRRC Submission

067848-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8516 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

78908846-78933784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78927936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 204 (G204D)

Ref Sequence

ENSEMBL: ENSMUSP00000071214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071230]

AlphaFold

Q6ZWX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000071230
AA Change: G204D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071214
Gene: ENSMUSG00000021116
AA Change: G204D

Domain	Start	End	E-Value	Type
S1	15	88	1.72e-12	SMART
Pfam:EIF_2_alpha	130	244	1e-40	PFAM
coiled coil region	284	310	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knocked-in point mutation die within hours of birth and exhibit hypoglycemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373 (GRCm39)	S22T	probably benign	Het
Acte1	T	A	7: 143,451,011 (GRCm39)	I342N	probably damaging	Het
Actr8	G	T	14: 29,712,856 (GRCm39)	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,260,780 (GRCm39)	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,763,559 (GRCm39)	Y884*	probably null	Het
Arhgap28	T	C	17: 68,180,068 (GRCm39)	R306G	probably benign	Het
Atp8a2	A	C	14: 59,928,921 (GRCm39)	I1044M	probably benign	Het
Bahd1	A	G	2: 118,747,452 (GRCm39)	Y357C	probably benign	Het
Btd	A	T	14: 31,388,824 (GRCm39)	T182S	probably damaging	Het
Casc3	C	T	11: 98,713,607 (GRCm39)	R280C	probably damaging	Het
Cisd2	T	C	3: 135,116,774 (GRCm39)	T106A	probably damaging	Het
Cldn15	G	T	5: 137,003,550 (GRCm39)	C184F	probably damaging	Het
Clk4	G	A	11: 51,166,088 (GRCm39)	R198Q	probably damaging	Het
Coprs	G	T	8: 13,935,065 (GRCm39)	F163L	probably damaging	Het
Csmd3	G	A	15: 47,492,761 (GRCm39)	R2216*	probably null	Het
Defb7	A	T	8: 19,547,623 (GRCm39)	I43F	possibly damaging	Het
Dpp8	C	A	9: 64,985,291 (GRCm39)	T783K	probably damaging	Het
Elavl4	T	C	4: 110,108,576 (GRCm39)	N56S	probably damaging	Het
Emilin1	G	A	5: 31,074,515 (GRCm39)	R252H	probably damaging	Het
Exd1	A	T	2: 119,350,554 (GRCm39)	L569Q	probably damaging	Het
Gpn2	C	T	4: 133,312,142 (GRCm39)	R125C	probably damaging	Het
Gria2	T	C	3: 80,614,294 (GRCm39)	E582G	probably benign	Het
Hadha	A	T	5: 30,331,582 (GRCm39)	V458E	probably damaging	Het
Hap1	T	C	11: 100,246,893 (GRCm39)	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,487,073 (GRCm39)	H3356L	possibly damaging	Het
Herc2	G	A	7: 55,856,318 (GRCm39)	V3919I	probably benign	Het
Lgr6	G	T	1: 135,003,021 (GRCm39)	N76K	probably damaging	Het
Or52w1	A	G	7: 105,017,976 (GRCm39)	I148V	probably benign	Het
P4ha3	A	G	7: 99,963,869 (GRCm39)	M462V	probably damaging	Het
Pde3b	A	T	7: 114,126,084 (GRCm39)	M773L	probably benign	Het
Peak1	T	C	9: 56,167,284 (GRCm39)	S215G	probably damaging	Het
Pgm5	T	A	19: 24,793,074 (GRCm39)	M331L	probably benign	Het
Piwil2	A	G	14: 70,658,188 (GRCm39)	V213A	probably benign	Het
Plch2	T	C	4: 155,070,764 (GRCm39)	H1205R	probably benign	Het
Pop4	A	T	7: 37,966,826 (GRCm39)	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,583,529 (GRCm39)	I212N	probably damaging	Het
Prom1	T	C	5: 44,164,441 (GRCm39)	K714R	probably benign	Het
Psip1	C	T	4: 83,384,952 (GRCm39)	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,481 (GRCm39)	*1259Q	probably null	Het
Scn1a	C	T	2: 66,156,478 (GRCm39)	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,051,262 (GRCm39)	E222G	probably null	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spem2	T	C	11: 69,707,721 (GRCm39)	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,246,515 (GRCm39)	V13E	probably damaging	Het
Trim2	C	T	3: 84,115,627 (GRCm39)	A102T	probably damaging	Het
Trim30b	A	G	7: 104,006,611 (GRCm39)	S82P	probably benign	Het
Uba6	A	C	5: 86,275,607 (GRCm39)	S760R	possibly damaging	Het
Upf2	T	C	2: 6,023,782 (GRCm39)	F711L	unknown	Het
Utrn	T	A	10: 12,362,254 (GRCm39)	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,412,109 (GRCm39)	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,794,875 (GRCm39)	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,599,984 (GRCm39)	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,670,761 (GRCm39)	C256S	probably damaging	Het
Xrn1	T	A	9: 95,930,444 (GRCm39)	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,013,632 (GRCm39)	S411C	probably damaging	Het
Zfp112	G	A	7: 23,823,389 (GRCm39)	G63E	probably benign	Het
Zfp786	A	T	6: 47,797,477 (GRCm39)	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,493,419 (GRCm39)	Y75F	possibly damaging	Het

Other mutations in Eif2s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Eif2s1	APN	12	78,913,420 (GRCm39)	missense	possibly damaging	0.92
IGL00736:Eif2s1	APN	12	78,931,611 (GRCm39)	unclassified	probably benign
IGL02072:Eif2s1	APN	12	78,926,788 (GRCm39)	missense	probably benign	0.04
IGL02312:Eif2s1	APN	12	78,926,790 (GRCm39)	missense	probably damaging	1.00
IGL03379:Eif2s1	APN	12	78,913,354 (GRCm39)	missense	probably benign	0.00
Sistine	UTSW	12	78,930,126 (GRCm39)	missense	possibly damaging	0.71
R0669:Eif2s1	UTSW	12	78,928,012 (GRCm39)	splice site	probably benign
R1426:Eif2s1	UTSW	12	78,927,942 (GRCm39)	missense	probably benign	0.01
R1644:Eif2s1	UTSW	12	78,913,295 (GRCm39)	splice site	probably null
R1998:Eif2s1	UTSW	12	78,913,508 (GRCm39)	missense	possibly damaging	0.90
R2069:Eif2s1	UTSW	12	78,923,959 (GRCm39)	missense	probably benign	0.03
R3885:Eif2s1	UTSW	12	78,927,999 (GRCm39)	missense	probably damaging	1.00
R4704:Eif2s1	UTSW	12	78,923,944 (GRCm39)	missense	probably benign	0.31
R4964:Eif2s1	UTSW	12	78,926,785 (GRCm39)	missense	probably benign
R5908:Eif2s1	UTSW	12	78,926,817 (GRCm39)	missense	probably damaging	0.99
R6473:Eif2s1	UTSW	12	78,927,999 (GRCm39)	missense	probably damaging	1.00
R6601:Eif2s1	UTSW	12	78,930,126 (GRCm39)	missense	possibly damaging	0.71
R7043:Eif2s1	UTSW	12	78,923,882 (GRCm39)	missense	probably damaging	0.99
R7358:Eif2s1	UTSW	12	78,927,969 (GRCm39)	missense	probably damaging	1.00
R8875:Eif2s1	UTSW	12	78,913,461 (GRCm39)	missense	probably damaging	1.00
R9236:Eif2s1	UTSW	12	78,921,343 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CAGGTATTCTAAAAGATCTGCTGGG -3'
(R):5'- TTTTCTACCCAACATGACCAGC -3'

Sequencing Primer
(F):5'- TCAGTACTGACAGGATGGCTC -3'
(R):5'- CAACATGACCAGCCAAAAGGGG -3'

Posted On

2020-10-20