Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01469:Eif2b4'

88197

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif2b4

Ensembl Gene

ENSMUSG00000029145

Gene Name

eukaryotic translation initiation factor 2B, subunit 4 delta

Synonyms

Eif2b

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

31187558-31193430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31187767 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 190 (D190G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077693] [ENSMUST00000114603] [ENSMUST00000166769] [ENSMUST00000201154] [ENSMUST00000202758]

Predicted Effect

probably benign
Transcript: ENSMUST00000077693
AA Change: D470G

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

SMART Domains

Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: D470G

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
coiled coil region	29	60	N/A	INTRINSIC
coiled coil region	93	122	N/A	INTRINSIC
Pfam:IF-2B	219	510	3.4e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114603
AA Change: D490G

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

SMART Domains

Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: D490G

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
coiled coil region	49	80	N/A	INTRINSIC
coiled coil region	113	142	N/A	INTRINSIC
Pfam:IF-2B	239	530	3.8e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114605
AA Change: D512G

SMART Domains

Protein: ENSMUSP00000110252
Gene: ENSMUSG00000029145
AA Change: D512G

Domain	Start	End	E-Value	Type
coiled coil region	71	102	N/A	INTRINSIC
coiled coil region	135	164	N/A	INTRINSIC
Pfam:IF-2B	261	552	2.3e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166769
AA Change: D490G

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

SMART Domains

Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: D490G

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
coiled coil region	49	80	N/A	INTRINSIC
coiled coil region	113	142	N/A	INTRINSIC
Pfam:IF-2B	239	530	3.8e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200724
AA Change: D190G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000200741

Predicted Effect

probably benign
Transcript: ENSMUST00000200929

Predicted Effect

probably benign
Transcript: ENSMUST00000200977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200983

Predicted Effect

probably benign
Transcript: ENSMUST00000201154

SMART Domains

Protein: ENSMUSP00000143802
Gene: ENSMUSG00000029145

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
coiled coil region	49	80	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202616

Predicted Effect

probably benign
Transcript: ENSMUST00000202758
AA Change: D512G

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

SMART Domains

Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: D512G

Domain	Start	End	E-Value	Type
coiled coil region	71	102	N/A	INTRINSIC
coiled coil region	135	164	N/A	INTRINSIC
Pfam:IF-2B	261	552	2.3e-97	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	A	G	4: 144,528,622	Q204R	possibly damaging	Het
Actn2	C	T	13: 12,310,910	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,677,752		probably null	Het
Ccdc107	A	G	4: 43,495,751	N218S	probably benign	Het
Cdh23	A	T	10: 60,597,725	M60K	probably benign	Het
Cenpe	A	G	3: 135,228,806	Q378R	probably damaging	Het
Dnah8	T	A	17: 30,683,714		probably benign	Het
Fmo5	A	G	3: 97,651,568	N448S	probably benign	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Gbf1	A	T	19: 46,279,364	E1271V	probably damaging	Het
Ifitm6	A	T	7: 141,016,812	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,653,346		probably null	Het
Kng2	T	A	16: 22,999,827	K305I	probably damaging	Het
Lrp1	C	T	10: 127,584,414	R900Q	probably damaging	Het
Maml1	A	G	11: 50,266,526	M274T	probably damaging	Het
Med23	A	G	10: 24,882,597	E278G	probably damaging	Het
Myo1h	A	G	5: 114,361,269	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,186,869	S135R	probably benign	Het
Nrbf2	A	G	10: 67,270,140	L41P	probably damaging	Het
Olfr108	T	A	17: 37,445,535	S5T	probably benign	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr514	A	G	7: 108,825,327	V224A	probably benign	Het
Olfr678	T	A	7: 105,070,388	M307K	probably benign	Het
Olfr782	A	G	10: 129,350,580	M6V	probably benign	Het
Otoa	T	C	7: 121,155,273		probably null	Het
Pih1d3	A	T	1: 31,223,429	D164V	probably damaging	Het
Plxnb1	T	C	9: 109,105,415		probably benign	Het
Ppp1r42	A	T	1: 10,003,233		probably null	Het
Rad54l2	T	A	9: 106,722,758	K100M	probably damaging	Het
Rnf112	T	A	11: 61,451,341	T308S	possibly damaging	Het
Scaper	T	C	9: 55,859,767	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,853,871	I796L	possibly damaging	Het
Shank3	T	C	15: 89,521,274	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,355,941	T6A	probably benign	Het
Slc14a2	A	T	18: 78,155,566	I783N	probably damaging	Het
Stat1	A	G	1: 52,147,370	D447G	possibly damaging	Het
Tekt3	T	G	11: 63,073,468	I208S	probably damaging	Het
Tenm3	A	T	8: 48,236,423	V2043E	probably damaging	Het
Tgm3	T	C	2: 130,024,494	Y111H	probably damaging	Het
Tph2	T	A	10: 115,079,759	R459*	probably null	Het
Vmn2r109	T	C	17: 20,541,409	Y562C	probably damaging	Het

Other mutations in Eif2b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02525:Eif2b4	APN	5	31189618	missense	probably damaging	0.99
IGL03178:Eif2b4	APN	5	31187653	missense	probably damaging	1.00
IGL03267:Eif2b4	APN	5	31192659	missense	possibly damaging	0.90
IGL03379:Eif2b4	APN	5	31190011	splice site	probably benign
IGL03397:Eif2b4	APN	5	31187653	missense	probably damaging	1.00
R0346:Eif2b4	UTSW	5	31188108	splice site	probably benign
R1549:Eif2b4	UTSW	5	31192921	missense	possibly damaging	0.72
R1636:Eif2b4	UTSW	5	31192266	splice site	probably null
R1753:Eif2b4	UTSW	5	31192940	missense	probably benign	0.00
R2263:Eif2b4	UTSW	5	31192574	splice site	probably benign
R2317:Eif2b4	UTSW	5	31191576	splice site	probably null
R3808:Eif2b4	UTSW	5	31191168	missense	possibly damaging	0.95
R3809:Eif2b4	UTSW	5	31191168	missense	possibly damaging	0.95
R4746:Eif2b4	UTSW	5	31187653	missense	probably damaging	1.00
R4752:Eif2b4	UTSW	5	31191231	nonsense	probably null
R4798:Eif2b4	UTSW	5	31189520	intron	probably benign
R4895:Eif2b4	UTSW	5	31192954	missense	probably benign	0.00
R4936:Eif2b4	UTSW	5	31192897	missense	probably benign	0.00
R5588:Eif2b4	UTSW	5	31192173	nonsense	probably null
R5660:Eif2b4	UTSW	5	31191156	missense	probably benign	0.00
R6363:Eif2b4	UTSW	5	31191239	missense	probably damaging	0.99
R6653:Eif2b4	UTSW	5	31192207	missense	possibly damaging	0.89
R6750:Eif2b4	UTSW	5	31189960	missense	probably damaging	0.99
R7062:Eif2b4	UTSW	5	31192831	missense	probably benign
R7221:Eif2b4	UTSW	5	31187787	missense	possibly damaging	0.55
R7360:Eif2b4	UTSW	5	31191375	missense	probably benign	0.08
R7779:Eif2b4	UTSW	5	31190654	missense	probably damaging	1.00

Posted On

2013-11-18