Mutagenetix > Incidental Mutation

Incidental Mutation 'R0471:Eif2b2'

46780

Institutional Source

Beutler Lab

Gene Symbol

Eif2b2

Ensembl Gene

ENSMUSG00000004788

Gene Name

eukaryotic translation initiation factor 2B, subunit 2 beta

Synonyms

EIF2B, EIF-2Bbeta

MMRRC Submission

038671-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85266255-85273402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85266957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 121 (F121S)

Ref Sequence

ENSEMBL: ENSMUSP00000122954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004910] [ENSMUST00000136495] [ENSMUST00000140900]

AlphaFold

Q99LD9

Predicted Effect

probably benign
Transcript: ENSMUST00000004910
AA Change: F124S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004910
Gene: ENSMUSG00000004788
AA Change: F124S

Domain	Start	End	E-Value	Type
Pfam:IF-2B	27	333	3.2e-91	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130760

Predicted Effect

probably benign
Transcript: ENSMUST00000136495
AA Change: F124S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122720
Gene: ENSMUSG00000004788
AA Change: F124S

Domain	Start	End	E-Value	Type
Pfam:IF-2B	27	232	2e-51	PFAM
Pfam:IF-2B	229	287	4.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140900
AA Change: F121S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122954
Gene: ENSMUSG00000004788
AA Change: F121S

Domain	Start	End	E-Value	Type
Pfam:IF-2B	27	228	1.7e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151925

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. Mutations in the human gene are associated with ovarioleukodystrophy and leukoencephalopathy with vanishing white matter. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,075,891 (GRCm39)		probably null	Het
Adam33	C	A	2: 130,896,399 (GRCm39)	G437C	probably damaging	Het
Aldh1a1	T	A	19: 20,579,377 (GRCm39)	M1K	probably null	Het
Amotl2	C	A	9: 102,597,718 (GRCm39)	P126Q	probably damaging	Het
Ap1g1	T	A	8: 110,580,275 (GRCm39)	M576K	possibly damaging	Het
Apob	C	A	12: 8,040,406 (GRCm39)	A581E	probably damaging	Het
Asb7	A	T	7: 66,328,907 (GRCm39)	D44E	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
C9orf72	G	A	4: 35,193,257 (GRCm39)	T232I	probably benign	Het
Ccdc65	A	T	15: 98,615,348 (GRCm39)	H118L	probably benign	Het
Cdc25b	A	G	2: 131,039,204 (GRCm39)	E523G	probably damaging	Het
Cdk11b	A	G	4: 155,731,999 (GRCm39)		probably benign	Het
Cilk1	G	T	9: 78,062,799 (GRCm39)		probably null	Het
Clec1b	A	G	6: 129,378,570 (GRCm39)		probably benign	Het
Cntrl	A	G	2: 35,017,392 (GRCm39)	T400A	probably benign	Het
Cpne4	T	G	9: 104,899,481 (GRCm39)		probably null	Het
Cyp2j6	T	A	4: 96,419,985 (GRCm39)	R249*	probably null	Het
Dock2	T	C	11: 34,579,380 (GRCm39)	I678V	probably benign	Het
Dqx1	C	T	6: 83,036,407 (GRCm39)		probably benign	Het
Dsp	A	T	13: 38,377,326 (GRCm39)	K1704*	probably null	Het
Ephx4	T	C	5: 107,561,379 (GRCm39)	V69A	possibly damaging	Het
Epn2	T	C	11: 61,426,134 (GRCm39)	Q281R	probably damaging	Het
Fgf3	A	C	7: 144,396,547 (GRCm39)	D187A	probably damaging	Het
Galnt18	C	A	7: 111,378,506 (GRCm39)		probably benign	Het
Gm4871	C	T	5: 144,968,402 (GRCm39)		probably benign	Het
Inpp4b	T	C	8: 82,768,528 (GRCm39)	I679T	possibly damaging	Het
Itpkb	A	G	1: 180,245,820 (GRCm39)	E779G	probably damaging	Het
Itsn1	G	A	16: 91,696,477 (GRCm39)	V27M	probably damaging	Het
Lrp2	C	A	2: 69,355,578 (GRCm39)	R422L	probably damaging	Het
Mmp25	G	A	17: 23,858,858 (GRCm39)	A231V	possibly damaging	Het
Mprip	T	C	11: 59,650,561 (GRCm39)	S1422P	probably damaging	Het
Mro	A	T	18: 74,009,860 (GRCm39)	Q176L	probably benign	Het
Mrpl12	A	G	11: 120,379,229 (GRCm39)	E192G	probably damaging	Het
Myo5b	A	T	18: 74,862,025 (GRCm39)		probably benign	Het
Ncam2	G	T	16: 80,997,772 (GRCm39)		probably benign	Het
Nip7	T	C	8: 107,783,949 (GRCm39)	L63P	probably damaging	Het
Nsd3	T	C	8: 26,138,450 (GRCm39)		probably benign	Het
Nup98	A	T	7: 101,788,004 (GRCm39)	V1022D	probably benign	Het
Or2y1e	T	A	11: 49,218,744 (GRCm39)	C169S	probably damaging	Het
Or5d43	A	G	2: 88,104,559 (GRCm39)	V278A	possibly damaging	Het
Or5h22	A	G	16: 58,894,633 (GRCm39)	I270T	probably benign	Het
Or7g28	A	T	9: 19,272,177 (GRCm39)	L158*	probably null	Het
P4ha2	T	C	11: 54,008,434 (GRCm39)	Y214H	possibly damaging	Het
Pacrg	A	T	17: 10,795,407 (GRCm39)	F184L	possibly damaging	Het
Parpbp	T	A	10: 87,929,569 (GRCm39)	R426S	probably damaging	Het
Pcdhb5	T	A	18: 37,454,359 (GRCm39)	Y246*	probably null	Het
Pik3cg	T	A	12: 32,244,770 (GRCm39)	T895S	probably damaging	Het
Prkch	T	C	12: 73,738,426 (GRCm39)	Y178H	probably benign	Het
Rusc2	G	T	4: 43,425,486 (GRCm39)	R1197L	probably damaging	Het
Svep1	T	C	4: 58,054,700 (GRCm39)	E3296G	possibly damaging	Het
Svs3a	A	G	2: 164,131,801 (GRCm39)	K123R	probably benign	Het
Sycp2l	A	G	13: 41,304,006 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,909,685 (GRCm39)	H717R	probably benign	Het
Tiprl	A	G	1: 165,050,092 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,892,130 (GRCm39)	V151G	possibly damaging	Het
Trim33	T	C	3: 103,234,217 (GRCm39)	V56A	possibly damaging	Het
Trim67	C	A	8: 125,521,397 (GRCm39)	T253K	probably benign	Het
Trip12	T	C	1: 84,703,928 (GRCm39)	E698G	probably damaging	Het
Tspan14	T	C	14: 40,637,353 (GRCm39)	D145G	probably damaging	Het
Ushbp1	G	A	8: 71,847,021 (GRCm39)	Q204*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r75	G	T	7: 85,814,721 (GRCm39)	N257K	probably benign	Het
Washc4	T	C	10: 83,394,598 (GRCm39)		probably benign	Het
Zc3h7b	G	A	15: 81,666,169 (GRCm39)	D560N	probably damaging	Het
Zscan21	T	C	5: 138,123,402 (GRCm39)	V27A	probably benign	Het
Zzef1	A	C	11: 72,813,937 (GRCm39)	E2842A	probably damaging	Het

Other mutations in Eif2b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:Eif2b2	APN	12	85,266,608 (GRCm39)	missense	probably benign	0.00
IGL03156:Eif2b2	APN	12	85,266,495 (GRCm39)	missense	probably damaging	1.00
IGL03238:Eif2b2	APN	12	85,270,173 (GRCm39)	missense	probably benign	0.01
R0785:Eif2b2	UTSW	12	85,268,335 (GRCm39)	missense	probably damaging	1.00
R1368:Eif2b2	UTSW	12	85,270,230 (GRCm39)	missense	probably damaging	0.98
R1442:Eif2b2	UTSW	12	85,266,360 (GRCm39)	missense	probably benign	0.00
R3162:Eif2b2	UTSW	12	85,266,435 (GRCm39)	missense	probably benign
R3162:Eif2b2	UTSW	12	85,266,435 (GRCm39)	missense	probably benign
R5931:Eif2b2	UTSW	12	85,269,561 (GRCm39)	missense	probably damaging	1.00
R6954:Eif2b2	UTSW	12	85,272,817 (GRCm39)	missense	probably damaging	0.98
R9038:Eif2b2	UTSW	12	85,266,897 (GRCm39)	missense	probably benign	0.01
Z1177:Eif2b2	UTSW	12	85,270,189 (GRCm39)	missense	probably damaging	1.00
Z1177:Eif2b2	UTSW	12	85,266,338 (GRCm39)	start codon destroyed	probably null	0.97

Predicted Primers

PCR Primer
(F):5'- AGTATGGCAGGTCAAACTCACAGC -3'
(R):5'- GGGTGTTCAAACCAGAAGACTGGTG -3'

Sequencing Primer
(F):5'- TCAAACTCACAGCTTGGGTG -3'
(R):5'- GAAGACTGGTGATCTCGCCTATC -3'

Posted On

2013-06-11