Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:Eif2b4'

661867

Institutional Source

Beutler Lab

Gene Symbol

Eif2b4

Ensembl Gene

ENSMUSG00000029145

Gene Name

eukaryotic translation initiation factor 2B, subunit 4 delta

Synonyms

Eif2b

MMRRC Submission

068538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8683 (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 T at 31345274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 453 (F453L)

Ref Sequence

ENSEMBL: ENSMUSP00000076875 (fasta)

Gene Model

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

AlphaFold

Q61749

Predicted Effect

probably damaging
Transcript: ENSMUST00000077693
AA Change: F453L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: F453L

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: F473L

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: F473L

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: F473L

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: F473L

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: ENSMUST00000200741

Predicted Effect

probably benign
Transcript: ENSMUST00000200929

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 damaging
Transcript: ENSMUST00000202758
AA Change: F495L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: F495L

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Actl11	T	A	9: 107,806,065 (GRCm39)	D129E	probably benign	Het
Adam12	T	A	7: 133,491,929 (GRCm39)	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,807,395 (GRCm39)	V732E	probably damaging	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,736,276 (GRCm39)	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,623,321 (GRCm39)	E99G	possibly damaging	Het
Ankk1	T	A	9: 49,329,292 (GRCm39)	M93L		Het
Ankmy1	A	T	1: 92,812,972 (GRCm39)	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,510,825 (GRCm39)	Y309F	probably damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Atp6v0a4	T	A	6: 38,025,926 (GRCm39)	*834L	probably null	Het
Avl9	T	A	6: 56,730,378 (GRCm39)	S574T	probably benign	Het
AW551984	G	A	9: 39,511,005 (GRCm39)	T194I	possibly damaging	Het
Azin1	G	A	15: 38,493,775 (GRCm39)	L283F	probably damaging	Het
Birc6	G	A	17: 74,916,114 (GRCm39)	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,497,464 (GRCm39)	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,321,216 (GRCm39)	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntn2	A	T	1: 132,450,731 (GRCm39)	L548Q	probably damaging	Het
Copg1	A	G	6: 87,869,637 (GRCm39)	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,009,805 (GRCm39)	N185Y	probably benign	Het
Dapk3	T	C	10: 81,026,069 (GRCm39)	L120P	probably damaging	Het
Dclre1b	A	C	3: 103,711,298 (GRCm39)	S204R	probably damaging	Het
Dennd2a	G	A	6: 39,500,137 (GRCm39)	R143*	probably null	Het
Dnah5	A	T	15: 28,289,367 (GRCm39)	E1185D	probably benign	Het
Dop1b	C	T	16: 93,568,699 (GRCm39)	T1587I	probably damaging	Het
Dop1b	A	G	16: 93,570,809 (GRCm39)	T1603A	probably benign	Het
Dym	T	A	18: 75,363,089 (GRCm39)	V531E	probably damaging	Het
Dync2i1	G	T	12: 116,193,262 (GRCm39)	D563E	probably benign	Het
Ecpas	T	C	4: 58,834,515 (GRCm39)	S788G	probably benign	Het
Entpd8	G	A	2: 24,974,992 (GRCm39)	G441D	probably damaging	Het
Galnt6	A	T	15: 100,592,603 (GRCm39)	Y535N	probably damaging	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gm10340	T	A	14: 14,826,748 (GRCm39)	D72E	possibly damaging	Het
Gm13102	T	A	4: 143,835,680 (GRCm39)	D449E	probably damaging	Het
Hdac9	T	A	12: 34,440,220 (GRCm39)	K386N	probably damaging	Het
Hgs	T	A	11: 120,366,044 (GRCm39)	C212*	probably null	Het
Hoxa2	C	A	6: 52,141,540 (GRCm39)	A29S	possibly damaging	Het
Ifnar1	T	A	16: 91,296,332 (GRCm39)	W278R	probably damaging	Het
Irf7	C	T	7: 140,843,422 (GRCm39)	G389R	probably null	Het
Lipo3	G	A	19: 33,759,604 (GRCm39)	L211F	probably benign	Het
Mars2	C	T	1: 55,277,741 (GRCm39)	T448I	probably benign	Het
Mcm4	C	A	16: 15,453,138 (GRCm39)	G184C	probably damaging	Het
Mmaa	C	T	8: 79,994,598 (GRCm39)	A403T	probably damaging	Het
Mmel1	A	G	4: 154,973,985 (GRCm39)	I342V	probably benign	Het
Myb	T	C	10: 21,026,405 (GRCm39)	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,467,569 (GRCm39)		probably null	Het
Npas2	A	G	1: 39,386,708 (GRCm39)	Q659R	probably benign	Het
Npr1	A	G	3: 90,362,497 (GRCm39)	V941A	probably benign	Het
Numa1	T	G	7: 101,626,617 (GRCm39)	M1R	probably null	Het
Obscn	T	C	11: 58,967,705 (GRCm39)	S2700G	probably benign	Het
Or2t35	T	A	14: 14,407,480 (GRCm38)	L84H	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Or5g25	A	T	2: 85,478,410 (GRCm39)	I85N	probably benign	Het
Pdpr	T	A	8: 111,850,492 (GRCm39)	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,821,805 (GRCm39)	S1630T		Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,917,893 (GRCm39)	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,394,187 (GRCm39)	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,685,188 (GRCm39)	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,743 (GRCm39)		probably benign	Het
Smc3	T	A	19: 53,629,616 (GRCm39)	S994T	possibly damaging	Het
Sparc	A	G	11: 55,292,783 (GRCm39)	C147R	probably damaging	Het
Supt6	A	T	11: 78,108,727 (GRCm39)	D1191E	probably benign	Het
Susd4	T	C	1: 182,719,832 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,291,631 (GRCm39)		probably null	Het
Tecta	T	G	9: 42,278,268 (GRCm39)	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,552,064 (GRCm39)	W2538L	probably damaging	Het
Trappc9	A	G	15: 72,884,664 (GRCm39)	F439L	probably benign	Het
Tsbp1	A	T	17: 34,667,782 (GRCm39)	Q158L	possibly damaging	Het
Vegfa	A	T	17: 46,342,396 (GRCm39)	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,996,873 (GRCm39)	D132V	probably benign	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
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
R9377:Eif2b4	UTSW	5	31,348,500 (GRCm39)	missense	probably benign
R9458:Eif2b4	UTSW	5	31,350,609 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGGAGTCACGTCATAGACC -3'
(R):5'- AACAAACAGGTTTCTAAGGTGC -3'

Sequencing Primer
(F):5'- TGGAGTCACGTCATAGACCAGATTC -3'
(R):5'- GCTATTGGGAGCTCATGCACTC -3'

Posted On

2021-03-08