Mutagenetix > Incidental Mutation

Incidental Mutation 'R4423:Eif2b5'

327235

Institutional Source

Beutler Lab

Gene Symbol

Eif2b5

Ensembl Gene

ENSMUSG00000003235

Gene Name

eukaryotic translation initiation factor 2B, subunit 5 epsilon

Synonyms

MMRRC Submission

041143-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20317567-20328073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20320469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 195 (D195G)

Ref Sequence

ENSEMBL: ENSMUSP00000003320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003320] [ENSMUST00000148714]

AlphaFold

Q8CHW4

Predicted Effect

probably benign
Transcript: ENSMUST00000003320
AA Change: D195G

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: D195G

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
Pfam:Hexapep	341	372	9.8e-5	PFAM
Pfam:Hexapep	361	389	6.1e-6	PFAM
low complexity region	517	526	N/A	INTRINSIC
eIF5C	625	712	8.43e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148714

SMART Domains

Protein: ENSMUSP00000121169
Gene: ENSMUSG00000003235

Domain	Start	End	E-Value	Type
Pfam:W2	82	150	7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231315

Meta Mutation Damage Score

0.1489

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal brain white matter development, decreased body fat, demyelination, impaired recovery from cuprizone-induced demyelination, and impaired coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	A	10: 100,441,495 (GRCm39)	P100Q	probably damaging	Het
A630010A05Rik	A	G	16: 14,436,577 (GRCm39)	Y210C	probably benign	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Arhgef9	T	G	X: 94,144,670 (GRCm39)	I131L	possibly damaging	Het
Asgr2	G	A	11: 69,996,211 (GRCm39)	V218I	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfap144	A	T	11: 58,687,357 (GRCm39)		probably null	Het
Cnot10	T	A	9: 114,446,988 (GRCm39)	I363F	probably damaging	Het
Coch	T	A	12: 51,644,932 (GRCm39)		probably null	Het
Dnah1	C	T	14: 31,006,718 (GRCm39)	G2199D	probably benign	Het
Dock9	A	G	14: 121,799,465 (GRCm39)		probably null	Het
Dst	T	C	1: 34,227,474 (GRCm39)	I1689T	possibly damaging	Het
Eif2ak4	T	C	2: 118,269,547 (GRCm39)	F762S	probably benign	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Far1	T	A	7: 113,139,805 (GRCm39)	S84R	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Galnt15	A	T	14: 31,780,226 (GRCm39)	I508F	possibly damaging	Het
Grik1	T	C	16: 87,720,088 (GRCm39)	T745A	probably benign	Het
Hira	A	G	16: 18,774,952 (GRCm39)	D959G	possibly damaging	Het
Hsf5	T	C	11: 87,522,460 (GRCm39)	L351P	probably damaging	Het
Icosl	C	T	10: 77,907,707 (GRCm39)	T89I	possibly damaging	Het
Iws1	T	A	18: 32,216,503 (GRCm39)	N414K	probably damaging	Het
Kif1b	A	G	4: 149,298,562 (GRCm39)	S1035P	probably damaging	Het
Lcp2	G	T	11: 34,028,226 (GRCm39)		probably benign	Het
Map4	C	T	9: 109,896,662 (GRCm39)	T631I	probably damaging	Het
Nepn	T	A	10: 52,267,911 (GRCm39)	I59N	probably damaging	Het
Nin	T	A	12: 70,089,752 (GRCm39)	K1221M	probably damaging	Het
Nup155	A	G	15: 8,150,948 (GRCm39)	T333A	probably damaging	Het
Or10d4c	A	G	9: 39,558,412 (GRCm39)	Y130C	probably damaging	Het
Or52h9	T	C	7: 104,202,552 (GRCm39)	V142A	probably benign	Het
Or8b43	A	G	9: 38,360,662 (GRCm39)	T165A	probably benign	Het
Plod2	T	C	9: 92,484,042 (GRCm39)	L502S	probably benign	Het
Pnpt1	A	G	11: 29,103,375 (GRCm39)		probably null	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkcq	T	C	2: 11,260,980 (GRCm39)	I344T	possibly damaging	Het
Rbl1	A	G	2: 157,010,875 (GRCm39)		probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sec62	T	C	3: 30,868,431 (GRCm39)	M220T	unknown	Het
Shprh	T	G	10: 11,062,262 (GRCm39)	V1219G	possibly damaging	Het
Slc25a46	T	C	18: 31,742,651 (GRCm39)	T72A	probably benign	Het
Slc4a2	G	A	5: 24,644,846 (GRCm39)	W1040*	probably null	Het
Slc5a1	T	C	5: 33,312,018 (GRCm39)	V470A	possibly damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Trpm2	T	C	10: 77,770,902 (GRCm39)	D678G	probably benign	Het
Tut7	T	C	13: 59,969,863 (GRCm39)	K11E	probably damaging	Het
Ube3a	T	C	7: 58,925,861 (GRCm39)	I234T	probably benign	Het
Vmn2r57	T	C	7: 41,076,064 (GRCm39)	K483E	probably damaging	Het
Wnk1	T	A	6: 119,903,387 (GRCm39)	S2111C	probably damaging	Het

Other mutations in Eif2b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Eif2b5	APN	16	20,324,002 (GRCm39)	missense	probably benign	0.19
IGL01073:Eif2b5	APN	16	20,319,046 (GRCm39)	nonsense	probably null
IGL01467:Eif2b5	APN	16	20,327,714 (GRCm39)	nonsense	probably null
IGL02754:Eif2b5	APN	16	20,321,536 (GRCm39)	missense	possibly damaging	0.50
IGL03286:Eif2b5	APN	16	20,321,012 (GRCm39)	missense	probably damaging	1.00
R0569:Eif2b5	UTSW	16	20,321,303 (GRCm39)	missense	probably benign	0.13
R1321:Eif2b5	UTSW	16	20,323,439 (GRCm39)	nonsense	probably null
R1647:Eif2b5	UTSW	16	20,321,335 (GRCm39)	missense	possibly damaging	0.77
R1648:Eif2b5	UTSW	16	20,321,335 (GRCm39)	missense	possibly damaging	0.77
R1897:Eif2b5	UTSW	16	20,325,787 (GRCm39)	missense	probably damaging	0.99
R2231:Eif2b5	UTSW	16	20,323,520 (GRCm39)	missense	probably benign
R3196:Eif2b5	UTSW	16	20,324,272 (GRCm39)	missense	probably benign
R4776:Eif2b5	UTSW	16	20,318,983 (GRCm39)	missense	probably damaging	1.00
R5240:Eif2b5	UTSW	16	20,320,148 (GRCm39)	missense	possibly damaging	0.49
R5828:Eif2b5	UTSW	16	20,321,536 (GRCm39)	missense	possibly damaging	0.50
R5920:Eif2b5	UTSW	16	20,317,694 (GRCm39)	missense	unknown
R5925:Eif2b5	UTSW	16	20,326,874 (GRCm39)	missense	probably benign	0.02
R6717:Eif2b5	UTSW	16	20,324,033 (GRCm39)	missense	probably damaging	0.96
R6915:Eif2b5	UTSW	16	20,321,500 (GRCm39)	missense	possibly damaging	0.83
R7396:Eif2b5	UTSW	16	20,324,887 (GRCm39)	missense	possibly damaging	0.69
R8046:Eif2b5	UTSW	16	20,325,154 (GRCm39)	missense	possibly damaging	0.88
R8196:Eif2b5	UTSW	16	20,321,306 (GRCm39)	missense	probably damaging	0.99
R8503:Eif2b5	UTSW	16	20,317,730 (GRCm39)	missense	probably benign	0.23
R8532:Eif2b5	UTSW	16	20,323,956 (GRCm39)	missense	probably damaging	0.99
R9222:Eif2b5	UTSW	16	20,321,382 (GRCm39)	nonsense	probably null
R9336:Eif2b5	UTSW	16	20,324,027 (GRCm39)	missense	probably damaging	1.00
Z1187:Eif2b5	UTSW	16	20,317,671 (GRCm39)	missense	unknown
Z1192:Eif2b5	UTSW	16	20,317,671 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAATATCTGCAGAGCCCTGG -3'
(R):5'- AATCATATCGAATCTCCACTCCGTC -3'

Sequencing Primer
(F):5'- CAGAGCCCTGGAGGAACAC -3'
(R):5'- GTCTCCACTGCCCTGGAAC -3'

Posted On

2015-07-07