Mutagenetix > Incidental Mutations

Incidental Mutation 'R3808:Eif2b4'

275028

Institutional Source

Beutler Lab

Gene Symbol

Eif2b4

Ensembl Gene

ENSMUSG00000029145

Gene Name

eukaryotic translation initiation factor 2B, subunit 4 delta

Synonyms

Eif2b

MMRRC Submission

040765-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31187558-31193430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31191168 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 88 (S88P)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031029] [ENSMUST00000077693] [ENSMUST00000114603] [ENSMUST00000166769] [ENSMUST00000200730] [ENSMUST00000201154] [ENSMUST00000202758] [ENSMUST00000202124] [ENSMUST00000201535] [ENSMUST00000201679]

Predicted Effect

probably benign
Transcript: ENSMUST00000031029

SMART Domains

Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
PX	1	105	3.42e-24	SMART
B41	113	274	4.05e-2	SMART
low complexity region	324	342	N/A	INTRINSIC
low complexity region	428	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077693
AA Change: S192P

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

SMART Domains

Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: S192P

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: S212P

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

SMART Domains

Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: S212P

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: S234P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110252
Gene: ENSMUSG00000029145
AA Change: S234P

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: S212P

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

SMART Domains

Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: S212P

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

possibly damaging
Transcript: ENSMUST00000200724
AA Change: S88P

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000200730

SMART Domains

Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
PX	1	87	2.3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200741

Predicted Effect

probably benign
Transcript: ENSMUST00000200929
AA Change: S11P

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

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: ENSMUST00000201343

Predicted Effect

probably benign
Transcript: ENSMUST00000202758
AA Change: S234P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: S234P

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

noncoding transcript
Transcript: ENSMUST00000202616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202323

Predicted Effect

probably benign
Transcript: ENSMUST00000202124

SMART Domains

Protein: ENSMUSP00000144168
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Blast:PX	1	31	6e-8	BLAST
PDB:3LUI\|C	1	31	4e-9	PDB
low complexity region	41	54	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201535

SMART Domains

Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Blast:PX	1	23	3e-7	BLAST
PDB:3LUI\|C	1	23	3e-8	PDB
low complexity region	24	35	N/A	INTRINSIC
Blast:B41	36	169	5e-92	BLAST
PDB:4GXB\|A	36	169	4e-90	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000201679

SMART Domains

Protein: ENSMUSP00000144688
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Pfam:PX	6	67	2.7e-9	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Aldh3a2	G	T	11: 61,258,797	L248M	probably damaging	Het
Als2	A	G	1: 59,170,450	S1458P	probably benign	Het
Arhgap5	A	G	12: 52,567,187	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,252,816	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 99,003,148	K613E	possibly damaging	Het
Carm1	T	C	9: 21,586,962	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671	Y417F	probably damaging	Het
Cers1	A	G	8: 70,330,010	D10G	possibly damaging	Het
Clptm1l	A	C	13: 73,612,454	M319L	probably benign	Het
Cntnap3	A	G	13: 64,781,804	V527A	probably damaging	Het
Creb3l2	A	G	6: 37,355,690	S290P	probably damaging	Het
D3Ertd254e	T	G	3: 36,165,643		probably null	Het
Dock4	T	G	12: 40,672,810	V305G	probably damaging	Het
Dtl	A	C	1: 191,548,354	L356R	probably damaging	Het
Eftud2	A	T	11: 102,841,463		probably null	Het
Fat4	T	G	3: 38,982,438	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 130,199,848	M218V	probably benign	Het
Grin2b	A	G	6: 135,923,271	L204P	probably damaging	Het
Kcnj12	A	G	11: 61,070,277	N467S	probably benign	Het
Klhdc3	T	A	17: 46,677,932	N111Y	possibly damaging	Het
Lin9	A	G	1: 180,659,111	I81V	probably null	Het
Lrp2	T	C	2: 69,501,548	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,476,702	D389E	probably damaging	Het
Med15	C	T	16: 17,655,734		probably benign	Het
Nbea	T	C	3: 55,717,848	N2274S	probably benign	Het
Nr3c2	G	A	8: 76,908,714	G148D	probably damaging	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr127	T	C	17: 37,903,573	V9A	probably benign	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Paxip1	A	G	5: 27,772,029		probably benign	Het
Pfas	T	C	11: 68,989,953		probably benign	Het
Plin3	C	A	17: 56,286,275	A96S	probably damaging	Het
Pnck	T	A	X: 73,656,944	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,787,327	G166D	probably damaging	Het
Prss43	A	T	9: 110,827,772	R115S	probably damaging	Het
Rassf2	T	C	2: 131,998,260		probably null	Het
Rdh16f1	T	A	10: 127,788,699	D135E	probably benign	Het
Rdh16f1	G	A	10: 127,788,700	V136M	probably damaging	Het
Rgs12	A	G	5: 35,032,354	E702G	probably damaging	Het
Rnf213	A	G	11: 119,479,558	K4728E	probably damaging	Het
Ros1	T	G	10: 52,120,848	T1243P	probably benign	Het
Sall1	G	A	8: 89,031,473	Q668*	probably null	Het
Sbf2	C	A	7: 110,489,280	*45L	probably null	Het
Serpina3j	A	T	12: 104,319,827	I414F	probably benign	Het
Sh2d3c	T	C	2: 32,746,096	Y159H	probably damaging	Het
Slamf1	A	G	1: 171,798,177	D307G	probably null	Het
Slc22a13	T	C	9: 119,196,077	T178A	probably benign	Het
Smchd1	A	T	17: 71,429,541	L588H	probably damaging	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Trim12a	G	A	7: 104,306,994	A113V	probably benign	Het
Vil1	T	C	1: 74,427,613	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,501,900	T116A	possibly damaging	Het
Zfp607a	G	A	7: 27,879,401	R632H	probably benign	Het

Other mutations in Eif2b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Eif2b4	APN	5	31187767	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTGAGTACCTCTTGGCCC -3'
(R):5'- CTCCTTAGAAAGCCAGATCGAC -3'

Sequencing Primer
(F):5'- CCTGCCCCTCATGAGAAGG -3'
(R):5'- TGGTACCTGGAGAATTGCCC -3'

Posted On

2015-04-02