Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:Eif2b2'

161554

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

039497-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1442 (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 85266360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 9 (S9P)

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: S9P

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

SMART Domains

Protein: ENSMUSP00000004910
Gene: ENSMUSG00000004788
AA Change: S9P

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: S9P

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

SMART Domains

Protein: ENSMUSP00000122720
Gene: ENSMUSG00000004788
AA Change: S9P

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: S9P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122954
Gene: ENSMUSG00000004788
AA Change: S9P

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

0.1389

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,833 (GRCm39)		probably benign	Het
Adamts7	T	A	9: 90,070,823 (GRCm39)	I648N	probably damaging	Het
Akap13	T	A	7: 75,385,526 (GRCm39)	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,507,159 (GRCm39)	H314L	probably damaging	Het
Anxa3	T	A	5: 96,976,549 (GRCm39)		probably null	Het
Apob	T	G	12: 8,036,165 (GRCm39)	F298V	probably benign	Het
Atp8a2	A	C	14: 60,097,772 (GRCm39)		probably benign	Het
Atp8b5	A	T	4: 43,334,313 (GRCm39)	T360S	probably damaging	Het
BC051665	A	T	13: 60,932,555 (GRCm39)	N43K	probably benign	Het
Bicral	T	A	17: 47,112,650 (GRCm39)	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,339,011 (GRCm39)	D227G	probably damaging	Het
C8a	T	A	4: 104,685,275 (GRCm39)	T323S	possibly damaging	Het
Cep89	T	C	7: 35,117,636 (GRCm39)		probably benign	Het
Cercam	G	T	2: 29,770,652 (GRCm39)	V408L	probably benign	Het
CN725425	G	A	15: 91,123,158 (GRCm39)	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,532,835 (GRCm39)	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,865 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,600,268 (GRCm39)	I287F	probably damaging	Het
Defb10	A	T	8: 22,348,944 (GRCm39)	M1L	probably benign	Het
Dscam	C	A	16: 96,409,274 (GRCm39)	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,595,717 (GRCm39)	I640N	possibly damaging	Het
Duox2	G	C	2: 122,112,232 (GRCm39)	P1318R	probably benign	Het
Dzip3	T	C	16: 48,765,985 (GRCm39)	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,824,462 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,102,652 (GRCm39)	L80P	probably damaging	Het
Etaa1	A	T	11: 17,897,201 (GRCm39)	D305E	probably benign	Het
Fads6	C	A	11: 115,188,235 (GRCm39)	R23L	probably benign	Het
Flrt2	T	C	12: 95,746,979 (GRCm39)	V439A	probably damaging	Het
Galm	A	C	17: 80,452,614 (GRCm39)	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,744,303 (GRCm39)		probably benign	Het
Irf7	T	C	7: 140,843,935 (GRCm39)	T246A	probably damaging	Het
Kif28	A	G	1: 179,532,697 (GRCm39)	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,385 (GRCm39)	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,059,469 (GRCm39)	H252R	probably benign	Het
Lzts1	G	T	8: 69,591,638 (GRCm39)	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,403,461 (GRCm39)	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,160,075 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myh3	A	G	11: 66,978,103 (GRCm39)	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,262,328 (GRCm39)		probably benign	Het
Npc1	T	A	18: 12,328,106 (GRCm39)	M1068L	probably benign	Het
Nup58	T	A	14: 60,469,992 (GRCm39)		probably benign	Het
Or10c1	T	C	17: 37,522,595 (GRCm39)	T50A	probably benign	Het
Or4k40	A	T	2: 111,250,438 (GRCm39)	I286N	probably damaging	Het
Or8b1	A	T	9: 38,399,939 (GRCm39)	I205F	probably benign	Het
Or8s16	T	C	15: 98,211,068 (GRCm39)	Y121C	probably damaging	Het
Parp2	T	G	14: 51,056,732 (GRCm39)		probably null	Het
Ppp4r4	T	C	12: 103,564,504 (GRCm39)	V9A	probably damaging	Het
Ptprc	T	A	1: 138,000,050 (GRCm39)	D856V	probably damaging	Het
Ptpru	T	A	4: 131,535,580 (GRCm39)	T466S	probably benign	Het
Rhob	A	G	12: 8,549,325 (GRCm39)	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,378,510 (GRCm39)	S775R	probably benign	Het
Slit2	T	G	5: 48,395,725 (GRCm39)	D709E	probably damaging	Het
Smok2b	C	G	17: 13,454,390 (GRCm39)	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,648,780 (GRCm39)	D158V	probably damaging	Het
Syne2	T	C	12: 75,993,489 (GRCm39)	I2087T	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tecta	T	A	9: 42,243,778 (GRCm39)	I2025F	probably damaging	Het
Themis	T	C	10: 28,658,131 (GRCm39)	V386A	probably damaging	Het
Ubr5	G	A	15: 38,015,168 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,033,446 (GRCm39)	I134N	probably damaging	Het
Vegfa	G	A	17: 46,336,418 (GRCm39)	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,692,623 (GRCm39)	K78*	probably null	Het
Vmn2r82	A	T	10: 79,215,201 (GRCm39)	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,198,407 (GRCm39)	S315P	probably benign	Het
Zfp566	T	C	7: 29,777,344 (GRCm39)	Y279C	probably damaging	Het
Zmym2	T	C	14: 57,180,784 (GRCm39)	Y899H	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
R0471:Eif2b2	UTSW	12	85,266,957 (GRCm39)	missense	probably benign
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
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'- ACACGTTTCTGATTGGCCTCAGC -3'
(R):5'- CTGTGAGTTTGACCTGCCATACTCC -3'

Sequencing Primer
(F):5'- ATTGGCCTCAGCAGAGGG -3'
(R):5'- GATGATCTTGAGGACTCTCCGC -3'

Posted On

2014-03-14