Mutagenetix > Incidental Mutation

Incidental Mutation 'R9377:Eif2b4'

709678

Institutional Source

Beutler Lab

Gene Symbol

Eif2b4

Ensembl Gene

ENSMUSG00000029145

Gene Name

eukaryotic translation initiation factor 2B, subunit 4 delta

Synonyms

Eif2b

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9377 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31344902-31350483 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31348500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 196 (Y196H)

Ref Sequence

ENSEMBL: ENSMUSP00000076875 (fasta)

Gene Model

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

AlphaFold

Q61749

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: Y196H

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

SMART Domains

Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: Y196H

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: Y216H

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

SMART Domains

Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: Y216H

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: ENSMUST00000166769
AA Change: Y216H

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

SMART Domains

Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: Y216H

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: ENSMUST00000200977

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: 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

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: ENSMUST00000202758
AA Change: Y238H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: Y238H

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,273 (GRCm39)	T55A	probably benign	Het
3110070M22Rik	T	A	13: 119,624,822 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,918,221 (GRCm39)	N171K	probably benign	Het
Adam18	G	A	8: 25,104,859 (GRCm39)	Q652*	probably null	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Aff1	C	T	5: 103,981,685 (GRCm39)	S608L	probably damaging	Het
Amfr	A	T	8: 94,707,018 (GRCm39)	F432L	probably damaging	Het
Ankfn1	G	A	11: 89,332,284 (GRCm39)	L421F	possibly damaging	Het
Ankrd31	T	C	13: 97,014,733 (GRCm39)	V1334A	probably benign	Het
Ascc3	C	T	10: 50,608,858 (GRCm39)	H1534Y	possibly damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atf3	T	C	1: 190,909,510 (GRCm39)	H53R	probably benign	Het
Bsn	C	A	9: 107,990,800 (GRCm39)	V1651F	probably damaging	Het
Bsn	A	T	9: 107,993,361 (GRCm39)	L797Q	probably damaging	Het
Bzw2	T	C	12: 36,180,131 (GRCm39)	D32G	probably damaging	Het
Cacna1e	A	T	1: 154,361,458 (GRCm39)	M531K	possibly damaging	Het
Cep120	A	G	18: 53,851,592 (GRCm39)	F567L	possibly damaging	Het
Cit	T	C	5: 116,084,914 (GRCm39)	I815T	probably benign	Het
Cnot6l	G	T	5: 96,276,826 (GRCm39)	Q121K	probably benign	Het
Col4a2	G	A	8: 11,483,725 (GRCm39)	G882R	probably damaging	Het
Col6a3	A	G	1: 90,743,961 (GRCm39)	F536L	probably damaging	Het
Copg2	T	A	6: 30,793,721 (GRCm39)	H394L	possibly damaging	Het
Cst13	A	G	2: 148,670,165 (GRCm39)	M112V	possibly damaging	Het
Cyp2j7	G	T	4: 96,124,786 (GRCm39)	N37K	probably benign	Het
Cyp2u1	T	A	3: 131,091,449 (GRCm39)	N357I	possibly damaging	Het
Dars1	T	C	1: 128,344,945 (GRCm39)	T4A	probably benign	Het
Dclk1	G	T	3: 55,429,374 (GRCm39)	C414F	possibly damaging	Het
Dmbt1	A	T	7: 130,694,832 (GRCm39)	Y1009F	unknown	Het
Ebf4	T	C	2: 130,148,775 (GRCm39)	Y117H	probably damaging	Het
Enpp2	C	T	15: 54,739,080 (GRCm39)	R401H	probably damaging	Het
Epo	T	C	5: 137,484,017 (GRCm39)		probably benign	Het
Gli1	T	A	10: 127,173,359 (GRCm39)	T100S	possibly damaging	Het
Gml2	T	A	15: 74,695,957 (GRCm39)	F117Y	probably benign	Het
Hivep1	T	C	13: 42,335,403 (GRCm39)	V2314A	probably benign	Het
Hspb8	A	G	5: 116,547,487 (GRCm39)	I165T	probably damaging	Het
Itgax	A	T	7: 127,732,849 (GRCm39)	T243S	probably benign	Het
Itih4	G	T	14: 30,608,533 (GRCm39)	L16F	probably damaging	Het
Kmt5a	C	T	5: 124,578,064 (GRCm39)		probably benign	Het
Lamc1	T	C	1: 153,115,009 (GRCm39)	E1089G	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmbp	A	T	7: 128,317,803 (GRCm39)	N147K	probably benign	Het
Mical2	C	T	7: 111,981,246 (GRCm39)	L407F	probably benign	Het
Mybpc2	A	T	7: 44,158,999 (GRCm39)	V653D	probably benign	Het
Myo3b	G	A	2: 70,069,242 (GRCm39)	V522I	possibly damaging	Het
Nbr1	A	G	11: 101,456,590 (GRCm39)	T156A	possibly damaging	Het
Neb	T	A	2: 52,039,291 (GRCm39)		probably null	Het
Neb	T	A	2: 52,116,546 (GRCm39)	Y964F		Het
Nr2f2	T	A	7: 70,007,856 (GRCm39)	I209F	probably damaging	Het
Nwd2	A	G	5: 63,957,740 (GRCm39)	T357A	probably damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdhb19	T	A	18: 37,632,299 (GRCm39)	V698E	probably damaging	Het
Pcdhga6	C	T	18: 37,841,570 (GRCm39)	P430L	probably damaging	Het
Piezo2	A	G	18: 63,162,156 (GRCm39)	L2225S	possibly damaging	Het
Plekhf1	A	T	7: 37,921,203 (GRCm39)	W122R	probably damaging	Het
Pold3	A	G	7: 99,732,993 (GRCm39)	S418P	possibly damaging	Het
Poldip3	T	C	15: 83,019,589 (GRCm39)	N180S	probably benign	Het
Ppp1r21	C	T	17: 88,852,815 (GRCm39)	R65*	probably null	Het
Ppp1r3d	A	T	2: 178,055,669 (GRCm39)	V111E	probably damaging	Het
Prrg4	T	C	2: 104,669,728 (GRCm39)	I130V	probably benign	Het
Psma5	A	T	3: 108,172,448 (GRCm39)	T55S	probably benign	Het
Rbm5	C	A	9: 107,627,252 (GRCm39)	A440S	probably benign	Het
Rdx	A	G	9: 51,980,168 (GRCm39)	K254E	possibly damaging	Het
Rere	A	C	4: 150,593,342 (GRCm39)	Q312P	unknown	Het
Rest	T	C	5: 77,416,128 (GRCm39)	V114A	possibly damaging	Het
Rufy4	G	T	1: 74,171,879 (GRCm39)	V201L	probably benign	Het
Scyl1	T	C	19: 5,809,023 (GRCm39)	E727G	probably benign	Het
Serpinb6b	T	A	13: 33,152,494 (GRCm39)	M1K	probably null	Het
Sgsm1	C	A	5: 113,436,741 (GRCm39)	V30F	probably damaging	Het
Skap1	A	G	11: 96,644,921 (GRCm39)	D344G	possibly damaging	Het
Slc26a7	T	C	4: 14,516,189 (GRCm39)	T547A	probably benign	Het
Slc6a3	C	A	13: 73,692,966 (GRCm39)	S195R	probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Spock3	A	T	8: 63,798,746 (GRCm39)	M253L	probably damaging	Het
Ssh2	A	G	11: 77,298,974 (GRCm39)	Y107C	possibly damaging	Het
Svil	T	C	18: 5,057,294 (GRCm39)	S581P	probably benign	Het
Tbc1d14	T	C	5: 36,662,472 (GRCm39)	T553A	probably benign	Het
Tet3	T	A	6: 83,380,596 (GRCm39)	Q524L	possibly damaging	Het
Uckl1	A	T	2: 181,211,532 (GRCm39)	V456E	probably damaging	Het
Ucp2	T	C	7: 100,146,040 (GRCm39)	F4S	probably benign	Het
Vmn2r77	A	G	7: 86,444,442 (GRCm39)	I32V	probably benign	Het
Vmn2r89	T	A	14: 51,692,601 (GRCm39)	Y135N	probably benign	Het
Vtn	A	G	11: 78,390,587 (GRCm39)	E82G	probably benign	Het
Zfp758	A	G	17: 22,593,925 (GRCm39)	N137S	probably benign	Het
Zgpat	T	A	2: 181,021,646 (GRCm39)	C357*	probably null	Het

Other mutations in Eif2b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Eif2b4	APN	5	31,345,111 (GRCm39)	missense	probably benign	0.02
IGL02525:Eif2b4	APN	5	31,346,962 (GRCm39)	missense	probably damaging	0.99
IGL03178:Eif2b4	APN	5	31,344,997 (GRCm39)	missense	probably damaging	1.00
IGL03267:Eif2b4	APN	5	31,350,003 (GRCm39)	missense	possibly damaging	0.90
IGL03379:Eif2b4	APN	5	31,347,355 (GRCm39)	splice site	probably benign
IGL03397:Eif2b4	APN	5	31,344,997 (GRCm39)	missense	probably damaging	1.00
R0346:Eif2b4	UTSW	5	31,345,452 (GRCm39)	splice site	probably benign
R1549:Eif2b4	UTSW	5	31,350,265 (GRCm39)	missense	possibly damaging	0.72
R1636:Eif2b4	UTSW	5	31,349,610 (GRCm39)	splice site	probably null
R1753:Eif2b4	UTSW	5	31,350,284 (GRCm39)	missense	probably benign	0.00
R2263:Eif2b4	UTSW	5	31,349,918 (GRCm39)	splice site	probably benign
R2317:Eif2b4	UTSW	5	31,348,920 (GRCm39)	splice site	probably null
R3808:Eif2b4	UTSW	5	31,348,512 (GRCm39)	missense	possibly damaging	0.95
R3809:Eif2b4	UTSW	5	31,348,512 (GRCm39)	missense	possibly damaging	0.95
R4746:Eif2b4	UTSW	5	31,344,997 (GRCm39)	missense	probably damaging	1.00
R4752:Eif2b4	UTSW	5	31,348,575 (GRCm39)	nonsense	probably null
R4798:Eif2b4	UTSW	5	31,346,864 (GRCm39)	intron	probably benign
R4895:Eif2b4	UTSW	5	31,350,298 (GRCm39)	missense	probably benign	0.00
R4936:Eif2b4	UTSW	5	31,350,241 (GRCm39)	missense	probably benign	0.00
R5588:Eif2b4	UTSW	5	31,349,517 (GRCm39)	nonsense	probably null
R5660:Eif2b4	UTSW	5	31,348,500 (GRCm39)	missense	probably benign	0.00
R6363:Eif2b4	UTSW	5	31,348,583 (GRCm39)	missense	probably damaging	0.99
R6653:Eif2b4	UTSW	5	31,349,551 (GRCm39)	missense	possibly damaging	0.89
R6750:Eif2b4	UTSW	5	31,347,304 (GRCm39)	missense	probably damaging	0.99
R7062:Eif2b4	UTSW	5	31,350,175 (GRCm39)	missense	probably benign
R7221:Eif2b4	UTSW	5	31,345,131 (GRCm39)	missense	possibly damaging	0.55
R7360:Eif2b4	UTSW	5	31,348,719 (GRCm39)	missense	probably benign	0.08
R7779:Eif2b4	UTSW	5	31,347,998 (GRCm39)	missense	probably damaging	1.00
R8683:Eif2b4	UTSW	5	31,345,274 (GRCm39)	missense	probably damaging	1.00
R8848:Eif2b4	UTSW	5	31,348,210 (GRCm39)	missense	probably damaging	0.99
R8990:Eif2b4	UTSW	5	31,347,971 (GRCm39)	missense	probably benign	0.00
R9170:Eif2b4	UTSW	5	31,345,393 (GRCm39)	missense	probably damaging	1.00
R9458:Eif2b4	UTSW	5	31,350,609 (GRCm39)	unclassified	probably benign

Predicted Primers

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

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

Posted On

2022-04-18