Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Eif2s2'

390688

Institutional Source

Beutler Lab

Gene Symbol

Eif2s2

Ensembl Gene

ENSMUSG00000074656

Gene Name

eukaryotic translation initiation factor 2 subunit 2 beta

Synonyms

D2Ertd303e, EIF2B, 2810026E11Rik, EIF2, 38kDa

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154713330-154734826 bp(-) (GRCm39)

Type of Mutation

splice site (20 bp from exon)

DNA Base Change (assembly)

A to C at 154734590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099173] [ENSMUST00000137333] [ENSMUST00000161172] [ENSMUST00000166171]

AlphaFold

Q99L45

Predicted Effect

probably null
Transcript: ENSMUST00000099173

SMART Domains

Protein: ENSMUSP00000096777
Gene: ENSMUSG00000074656

Domain	Start	End	E-Value	Type
low complexity region	40	55	N/A	INTRINSIC
low complexity region	79	87	N/A	INTRINSIC
low complexity region	123	132	N/A	INTRINSIC
eIF2B_5	197	306	1.93e-68	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135524

Predicted Effect

probably benign
Transcript: ENSMUST00000137333

SMART Domains

Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	70	2.53e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147136

Predicted Effect

probably benign
Transcript: ENSMUST00000161172

SMART Domains

Protein: ENSMUSP00000125248
Gene: ENSMUSG00000074656

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	74	82	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000166171

SMART Domains

Protein: ENSMUSP00000128257
Gene: ENSMUSG00000074656

Domain	Start	End	E-Value	Type
low complexity region	40	55	N/A	INTRINSIC
low complexity region	79	87	N/A	INTRINSIC
low complexity region	123	132	N/A	INTRINSIC
eIF2B_5	197	306	1.93e-68	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethallity prior to E8.5. Mice heterozygous for a gene trap allele exhibit reduced incidence of testicular germ cell tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,837,315 (GRCm39)	Y257H	probably damaging	Het
Adam28	C	T	14: 68,855,164 (GRCm39)	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 26,991,732 (GRCm39)	E627K	probably damaging	Het
Atad5	T	A	11: 79,985,502 (GRCm39)	S196R	probably benign	Het
Bcam	T	A	7: 19,490,785 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,962,320 (GRCm39)	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,804,471 (GRCm39)	I190V	probably benign	Het
Ccdc8	T	C	7: 16,728,970 (GRCm39)	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,540,529 (GRCm39)	R68G	probably damaging	Het
Dock3	T	C	9: 106,815,105 (GRCm39)	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007 (GRCm39)	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,700,318 (GRCm39)	V271L	possibly damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Fndc7	A	G	3: 108,788,663 (GRCm39)	S193P	probably damaging	Het
Fzr1	G	A	10: 81,207,253 (GRCm39)		probably benign	Het
Gm17472	T	C	6: 42,957,938 (GRCm39)	I69T	probably damaging	Het
Gmppa	C	A	1: 75,416,015 (GRCm39)	Y137*	probably null	Het
Gpr45	A	G	1: 43,071,809 (GRCm39)	I151V	probably benign	Het
H1f0	G	A	15: 78,912,973 (GRCm39)	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,491,063 (GRCm39)	V114I	probably benign	Het
Impa2	C	A	18: 67,439,797 (GRCm39)	P98Q	probably damaging	Het
Kazn	T	C	4: 141,835,957 (GRCm39)	N573D	unknown	Het
Kcna2	A	T	3: 107,011,656 (GRCm39)	D79V	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kif13a	A	G	13: 46,956,122 (GRCm39)	Y561H	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra1	T	A	6: 130,352,247 (GRCm39)	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,570,869 (GRCm39)	R318S	probably damaging	Het
Mgat4d	G	A	8: 84,094,837 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,641,312 (GRCm39)		probably null	Het
Nostrin	A	T	2: 69,006,057 (GRCm39)	Q247L	possibly damaging	Het
Obi1	C	T	14: 104,745,466 (GRCm39)	G70E	probably damaging	Het
Obscn	T	C	11: 58,964,443 (GRCm39)	E3033G	probably damaging	Het
Pam	C	A	1: 97,749,642 (GRCm39)	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,795,157 (GRCm39)	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337 (GRCm39)	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptar1	G	T	19: 23,671,729 (GRCm39)	R44L	probably damaging	Het
Rad51c	T	C	11: 87,288,580 (GRCm39)	H201R	probably benign	Het
Rims2	A	T	15: 39,381,265 (GRCm39)		probably null	Het
Rpl22l1	T	G	3: 28,860,985 (GRCm39)	S67A	possibly damaging	Het
Rps10	A	G	17: 27,849,454 (GRCm39)	S143P	probably damaging	Het
Rundc1	T	C	11: 101,315,967 (GRCm39)	V13A	probably benign	Het
Sephs2	C	A	7: 126,872,564 (GRCm39)	M176I	probably benign	Het
Serpina16	C	T	12: 103,641,189 (GRCm39)	V179I	probably benign	Het
Serpini2	T	A	3: 75,166,784 (GRCm39)	T158S	probably damaging	Het
Slc12a3	A	G	8: 95,072,979 (GRCm39)	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,650,436 (GRCm39)	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,136,672 (GRCm39)		probably benign	Het
Tbr1	A	T	2: 61,636,346 (GRCm39)	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,247,064 (GRCm39)		probably null	Het
Tlr12	T	A	4: 128,511,063 (GRCm39)	K396*	probably null	Het
Tmppe	A	G	9: 114,235,026 (GRCm39)	I442V	probably benign	Het
Tubb3	T	C	8: 124,147,607 (GRCm39)	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,416,901 (GRCm39)	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,671,708 (GRCm39)	V482L	possibly damaging	Het
Zfp184	G	T	13: 22,143,452 (GRCm39)	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,192,792 (GRCm39)	V270E	probably damaging	Het
Zfp985	A	T	4: 147,667,438 (GRCm39)	Y102F	probably damaging	Het

Other mutations in Eif2s2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Eif2s2	APN	2	154,729,629 (GRCm39)	missense	probably benign
R0414:Eif2s2	UTSW	2	154,726,381 (GRCm39)	splice site	probably benign
R0631:Eif2s2	UTSW	2	154,726,278 (GRCm39)	missense	probably damaging	0.99
R4480:Eif2s2	UTSW	2	154,730,190 (GRCm39)	missense	probably benign
R4660:Eif2s2	UTSW	2	154,730,189 (GRCm39)	missense	probably benign	0.17
R4735:Eif2s2	UTSW	2	154,720,467 (GRCm39)	splice site	probably null
R8062:Eif2s2	UTSW	2	154,719,724 (GRCm39)	missense	possibly damaging	0.82
R8163:Eif2s2	UTSW	2	154,734,621 (GRCm39)	missense	probably benign	0.00
R8772:Eif2s2	UTSW	2	154,729,659 (GRCm39)	missense	probably null
R9004:Eif2s2	UTSW	2	154,720,404 (GRCm39)	missense	probably benign	0.37
R9491:Eif2s2	UTSW	2	154,734,630 (GRCm39)	start gained	probably benign
R9767:Eif2s2	UTSW	2	154,730,125 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCCATTCCGAAACGCCGATC -3'
(R):5'- CACTTCCAACGTTTGAGAGGAG -3'

Sequencing Primer
(F):5'- AAACGCCGATCACCGTGG -3'
(R):5'- CGTTTGAGAGGAGGGCGG -3'

Posted On

2016-06-06