Mutagenetix > Incidental Mutation

Incidental Mutation 'R7043:Eif2s1'

547175

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

045142-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78908846-78933784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78923882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 113 (R113L)

Ref Sequence

ENSEMBL: ENSMUSP00000071214 (fasta)

Gene Model

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

AlphaFold

Q6ZWX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000071230
AA Change: R113L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071214
Gene: ENSMUSG00000021116
AA Change: R113L

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

Meta Mutation Damage Score

0.5984

Coding Region Coverage

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

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,474 (GRCm39)	L1596P	probably damaging	Het
Actr3b	A	G	5: 26,054,936 (GRCm39)	M329V	probably benign	Het
Avpr1a	C	T	10: 122,285,586 (GRCm39)	R293C	probably damaging	Het
Bdp1	A	T	13: 100,215,215 (GRCm39)	C390S	probably benign	Het
C2cd2l	A	T	9: 44,227,848 (GRCm39)	M131K	probably damaging	Het
Ccna2	T	C	3: 36,624,302 (GRCm39)		probably benign	Het
Cd53	T	C	3: 106,670,577 (GRCm39)	D152G	probably damaging	Het
Cdpf1	A	T	15: 85,692,485 (GRCm39)	V66E	probably null	Het
Chd9	G	T	8: 91,760,843 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Dst	A	G	1: 34,296,992 (GRCm39)	T5794A	probably damaging	Het
Eif5	A	G	12: 111,511,030 (GRCm39)	D423G	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
F7	A	T	8: 13,083,997 (GRCm39)	R227S	probably benign	Het
Gm14496	T	G	2: 181,642,120 (GRCm39)	I597S	possibly damaging	Het
Gpr85	T	A	6: 13,835,876 (GRCm39)	N343Y	probably damaging	Het
H2-T23	A	T	17: 36,342,803 (GRCm39)	S112T	probably damaging	Het
Itga9	C	T	9: 118,598,184 (GRCm39)	P573S	probably damaging	Het
Kcnb2	A	T	1: 15,383,150 (GRCm39)	M159L	probably benign	Het
Kmt5b	T	A	19: 3,865,220 (GRCm39)	S738R	possibly damaging	Het
Lrp1b	T	C	2: 40,812,426 (GRCm39)	N2393S	possibly damaging	Het
Mme	T	A	3: 63,252,638 (GRCm39)	Y427*	probably null	Het
Naip1	A	G	13: 100,563,422 (GRCm39)	V581A	probably damaging	Het
Ndel1	A	G	11: 68,713,450 (GRCm39)	L329P	possibly damaging	Het
Nthl1	T	G	17: 24,857,644 (GRCm39)	V281G	probably benign	Het
Or52ab2	C	A	7: 102,970,292 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,347,130 (GRCm39)	H1197Q	probably benign	Het
Phf8-ps	T	C	17: 33,284,306 (GRCm39)	D832G	possibly damaging	Het
Plec	G	A	15: 76,093,328 (GRCm39)		probably benign	Het
Prpf6	A	T	2: 181,291,297 (GRCm39)	H704L	probably benign	Het
Recql5	C	T	11: 115,821,502 (GRCm39)		probably null	Het
Rimbp3	G	A	16: 17,028,972 (GRCm39)	V799M	probably damaging	Het
Sema3f	C	T	9: 107,568,599 (GRCm39)	A169T	possibly damaging	Het
Serpinb9f	T	C	13: 33,509,970 (GRCm39)	I54T	possibly damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc35g3	T	C	11: 69,652,476 (GRCm39)	D12G	probably benign	Het
Sptbn1	A	G	11: 30,053,323 (GRCm39)	V2252A	probably benign	Het
Stab2	T	C	10: 86,706,110 (GRCm39)	N1750S	probably damaging	Het
Supt5	C	A	7: 28,019,435 (GRCm39)	R543L	probably benign	Het
Syne1	T	C	10: 5,022,193 (GRCm39)	E7806G	possibly damaging	Het
Syt12	T	A	19: 4,501,049 (GRCm39)	M334L	probably benign	Het
Tk1	A	G	11: 117,706,779 (GRCm39)	*234R	probably null	Het
Trp73	T	G	4: 154,151,464 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,727,477 (GRCm39)		probably benign	Het
Vmn2r11	T	C	5: 109,200,098 (GRCm39)	I452V	probably benign	Het
Wwox	G	T	8: 115,406,578 (GRCm39)	V190L	probably damaging	Het
Wwp2	A	G	8: 108,184,532 (GRCm39)	H80R	probably benign	Het
Zc3h3	A	G	15: 75,681,485 (GRCm39)	I532T	probably damaging	Het
Zfp280d	A	G	9: 72,226,539 (GRCm39)	K328E	probably damaging	Het
Zfp365	A	G	10: 67,745,656 (GRCm39)	S41P	probably 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
R7358:Eif2s1	UTSW	12	78,927,969 (GRCm39)	missense	probably damaging	1.00
R8516:Eif2s1	UTSW	12	78,927,936 (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'- ACTTGAGTTGACTATTGTGAAGGAG -3'
(R):5'- GATGCCAGGCAATCAATCTG -3'

Sequencing Primer
(F):5'- ACTATTGTGAAGGAGTGACTGTTTC -3'
(R):5'- CAGGCAATCAATCTGTGTGC -3'

Posted On

2019-05-13