Mutagenetix > Incidental Mutations

Incidental Mutation 'R1753:Eif2b4'

193723

Institutional Source

Beutler Lab

Gene Symbol

Eif2b4

Ensembl Gene

ENSMUSG00000029145

Gene Name

eukaryotic translation initiation factor 2B, subunit 4 delta

Synonyms

Eif2b

MMRRC Submission

039785-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1753 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

31187558-31193430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31192940 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 13 (S13T)

Gene Model

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

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

SMART Domains

Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145

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

SMART Domains

Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145

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: S13T

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

SMART Domains

Protein: ENSMUSP00000110252
Gene: ENSMUSG00000029145
AA Change: S13T

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

SMART Domains

Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200983

Predicted Effect

probably benign
Transcript: ENSMUST00000202758
AA Change: S13T

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

SMART Domains

Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: S13T

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: ENSMUST00000201343

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

noncoding transcript
Transcript: ENSMUST00000202616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202318

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

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

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,973,716	F409I	probably benign	Het
Adamts19	A	C	18: 59,007,372	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,899,352	S306G	probably damaging	Het
Adamts8	T	G	9: 30,954,614	I486S	probably benign	Het
Adgrg5	T	C	8: 94,942,052	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,577,135	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241		probably null	Het
Arhgap31	A	G	16: 38,601,612	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,094,833	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,302,354	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,866,561	E637K	probably benign	Het
Cd2	A	T	3: 101,287,499	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,764,688	Y157*	probably null	Het
Celsr3	G	T	9: 108,831,857	V1301F	probably damaging	Het
Cep164	C	T	9: 45,792,937	G961S	probably damaging	Het
Cep290	T	C	10: 100,513,981	V630A	probably benign	Het
Chd5	C	T	4: 152,378,815	S1451F	probably damaging	Het
Cldn23	A	C	8: 35,825,986	L116R	possibly damaging	Het
Cngb1	A	T	8: 95,297,773		probably benign	Het
Cpb1	G	T	3: 20,266,241	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,260,100	F261S	probably damaging	Het
Crlf3	A	C	11: 80,057,872	V249G	probably damaging	Het
Csmd1	A	T	8: 16,157,120	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,083,685	P207Q	possibly damaging	Het
Cym	A	C	3: 107,213,425	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,121,432		probably null	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Dnah7b	T	C	1: 46,322,335	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,873,342	M181L	possibly damaging	Het
Duox1	T	A	2: 122,333,429	M859K	probably damaging	Het
Ercc6	T	C	14: 32,576,999	V1448A	probably benign	Het
Esp24	A	G	17: 39,040,002	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,701,461	M338K	probably benign	Het
Fgfbp1	A	C	5: 43,979,923	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,940,616	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,346,578	C372W	probably damaging	Het
Grn	T	G	11: 102,433,267	C61G	probably damaging	Het
Herc1	T	G	9: 66,469,010	C3371G	probably damaging	Het
Herc1	T	C	9: 66,502,084		probably null	Het
Hmcn1	C	T	1: 150,586,468	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,456,635	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,593,860	H399L	probably benign	Het
Irx3	G	A	8: 91,800,734	P114L	probably damaging	Het
Kat6a	T	A	8: 22,935,797	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,843,482		probably benign	Het
Kng1	A	T	16: 23,079,119	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,496,489	Q1746L	possibly damaging	Het
Lrrc29	A	T	8: 105,313,192	V517E	probably damaging	Het
Lrrc63	A	T	14: 75,086,344		probably null	Het
Mad2l1	T	A	6: 66,539,813	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,822,680	M978T	probably benign	Het
Mon1a	A	C	9: 107,901,363	N262T	probably damaging	Het
Mpo	A	G	11: 87,795,881	N85D	probably benign	Het
Mpp4	T	C	1: 59,144,810	D244G	probably null	Het
Mstn	A	G	1: 53,066,558	Y353C	probably damaging	Het
Mx1	T	A	16: 97,454,158	N232Y	probably damaging	Het
Mycs	T	C	X: 5,468,103	R308G	probably benign	Het
Myh11	A	T	16: 14,277,870	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,433,412	Q169L	probably null	Het
Nr5a1	G	T	2: 38,708,419	T122N	possibly damaging	Het
Nras	A	G	3: 103,058,979	T20A	probably damaging	Het
Obp2b	T	A	2: 25,738,640		probably null	Het
Olfr1109	T	C	2: 87,093,227	T57A	probably damaging	Het
Olfr1143	T	A	2: 87,802,762	F124L	probably benign	Het
Olfr1410	G	A	1: 92,608,400	V188M	probably benign	Het
Olfr365	A	G	2: 37,201,427	Y62C	probably damaging	Het
Olfr577	T	C	7: 102,973,056	N312S	probably benign	Het
Pcdh17	A	T	14: 84,477,654	T920S	probably benign	Het
Pcdh9	T	C	14: 93,887,225	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,436,671	T290I	probably damaging	Het
Pde6b	C	A	5: 108,388,691	C84*	probably null	Het
Pex1	A	T	5: 3,630,044	N914I	probably damaging	Het
Pign	A	G	1: 105,589,317	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,533,905	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,342,631	K489E	probably damaging	Het
Prob1	T	C	18: 35,653,252	T650A	possibly damaging	Het
Radil	T	C	5: 142,495,336	Y572C	probably damaging	Het
Rapgef2	A	G	3: 79,088,791	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,682,817		probably null	Het
Rnaset2b	G	A	17: 6,981,107		probably null	Het
S1pr1	A	G	3: 115,711,938	S336P	probably benign	Het
Slc24a5	A	G	2: 125,083,195	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,061,391	I184F	probably benign	Het
Slc35a3	A	G	3: 116,677,948	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,677,202	H211R	probably damaging	Het
Slu7	A	G	11: 43,439,268	N174S	probably benign	Het
Smarcd3	A	T	5: 24,595,822	Y131*	probably null	Het
Syne1	A	G	10: 5,367,621	M491T	probably benign	Het
Tars	G	A	15: 11,394,243	Q103*	probably null	Het
Tmem132d	C	A	5: 127,789,855	E660D	probably benign	Het
Ttn	T	C	2: 76,745,043	T16842A	probably damaging	Het
Ttn	T	A	2: 76,752,261	M22763L	probably benign	Het
Ttn	T	C	2: 76,812,972	E13201G	probably damaging	Het
Ubp1	A	T	9: 113,955,969	I117L	possibly damaging	Het
Usp24	T	A	4: 106,377,559	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,754,197	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,928,245	Q290*	probably null	Het
Vnn3	T	C	10: 23,865,820	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,305,744	T46A	probably damaging	Het
Wdr48	G	T	9: 119,924,247	E625*	probably null	Het
Wdr6	C	T	9: 108,575,164	V507I	probably damaging	Het
Zp2	A	T	7: 120,138,105	W287R	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGCATCAGAAAACAGGGCACAG -3'
(R):5'- GGAACCCAACATCCTTTGGTCCTC -3'

Sequencing Primer
(F):5'- TTGGCATGACCACAGCTC -3'
(R):5'- ACGCCGGAAGTTGTAGTC -3'

Posted On

2014-05-23