Mutagenetix > Incidental Mutation

Incidental Mutation 'R9222:Eif2b5'

699559

Institutional Source

Beutler Lab

Gene Symbol

Eif2b5

Ensembl Gene

ENSMUSG00000003235

Gene Name

eukaryotic translation initiation factor 2B, subunit 5 epsilon

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9222 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20317567-20328073 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 20321382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 312 (R312*)

Ref Sequence

ENSEMBL: ENSMUSP00000003320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003320] [ENSMUST00000148714]

AlphaFold

Q8CHW4

Predicted Effect

probably null
Transcript: ENSMUST00000003320
AA Change: R312*

SMART Domains

Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: R312*

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
Pfam:Hexapep	341	372	9.8e-5	PFAM
Pfam:Hexapep	361	389	6.1e-6	PFAM
low complexity region	517	526	N/A	INTRINSIC
eIF5C	625	712	8.43e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148714

SMART Domains

Protein: ENSMUSP00000121169
Gene: ENSMUSG00000003235

Domain	Start	End	E-Value	Type
Pfam:W2	82	150	7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231315

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal brain white matter development, decreased body fat, demyelination, impaired recovery from cuprizone-induced demyelination, and impaired coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	C	A	5: 138,560,562 (GRCm39)	V278F	unknown	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Actr5	T	A	2: 158,473,423 (GRCm39)	N272K	probably damaging	Het
Afg3l2	T	C	18: 67,567,257 (GRCm39)	T198A	probably benign	Het
Aloxe3	A	G	11: 69,023,903 (GRCm39)	Y278C	probably damaging	Het
Apobec3	A	G	15: 79,783,270 (GRCm39)	I226V		Het
Arap2	T	A	5: 62,828,421 (GRCm39)	T917S	possibly damaging	Het
Arhgap40	T	C	2: 158,388,692 (GRCm39)	L545P	probably damaging	Het
Atp13a5	A	T	16: 29,133,472 (GRCm39)	L438H	probably damaging	Het
Ccdc191	T	A	16: 43,725,831 (GRCm39)	Y105N	probably damaging	Het
Ccdc7a	A	T	8: 129,525,610 (GRCm39)	F1406L	unknown	Het
Celsr1	A	G	15: 85,815,471 (GRCm39)	V1848A	possibly damaging	Het
Chn1	T	A	2: 73,443,499 (GRCm39)	N417I	probably damaging	Het
Cmya5	T	C	13: 93,230,579 (GRCm39)	K1503R	probably benign	Het
Cryz	T	C	3: 154,317,203 (GRCm39)	F141L	probably benign	Het
Dmac2l	T	C	12: 69,788,554 (GRCm39)	V151A	probably damaging	Het
Dpep2	T	A	8: 106,723,016 (GRCm39)	H13L		Het
Evc	A	T	5: 37,477,650 (GRCm39)	M343K	probably benign	Het
Fbxw17	T	A	13: 50,577,367 (GRCm39)	D86E	probably damaging	Het
Fbxw9	T	A	8: 85,788,856 (GRCm39)	L202Q	probably damaging	Het
Fkbp9	G	T	6: 56,852,677 (GRCm39)	V466F	probably damaging	Het
Fras1	G	A	5: 96,805,087 (GRCm39)	R1243Q	probably benign	Het
Fsip2	C	T	2: 82,815,958 (GRCm39)	T3897I	probably benign	Het
Fut7	T	C	2: 25,315,191 (GRCm39)	S150P	possibly damaging	Het
Gstm5	A	G	3: 107,804,634 (GRCm39)	I73V	probably benign	Het
Hspb9	A	G	11: 100,604,769 (GRCm39)	M32V	possibly damaging	Het
Ift80	A	G	3: 68,825,894 (GRCm39)	I482T	possibly damaging	Het
Khk	C	T	5: 31,079,141 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,747,324 (GRCm39)	H3333Q	unknown	Het
Lamc1	G	T	1: 153,119,087 (GRCm39)	T844K	probably damaging	Het
Luc7l2	A	T	6: 38,542,633 (GRCm39)	I10L	probably benign	Het
Mosmo	T	A	7: 120,277,055 (GRCm39)	I23N	probably benign	Het
Mtcl2	A	G	2: 156,881,919 (GRCm39)	V711A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Nsun7	T	C	5: 66,418,366 (GRCm39)	V32A	probably benign	Het
Oog1	A	G	12: 87,653,016 (GRCm39)	D104G	probably damaging	Het
Or4b13	C	T	2: 90,082,820 (GRCm39)	V171M	possibly damaging	Het
Pde3a	A	G	6: 141,437,904 (GRCm39)	D991G	probably damaging	Het
Pds5a	G	A	5: 65,805,281 (GRCm39)	H522Y	probably benign	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Plk4	T	A	3: 40,760,990 (GRCm39)	V440E	possibly damaging	Het
Prkd2	A	G	7: 16,577,699 (GRCm39)	I51V	probably damaging	Het
Ptprt	T	C	2: 161,402,106 (GRCm39)	T1042A	probably damaging	Het
Rsph6a	C	A	7: 18,801,986 (GRCm39)	T600N	possibly damaging	Het
Scn11a	A	T	9: 119,611,013 (GRCm39)	V946E	probably damaging	Het
Sec11a	G	A	7: 80,565,634 (GRCm39)	L170F	probably damaging	Het
Slc15a5	A	G	6: 137,961,450 (GRCm39)	I215T		Het
Slc1a1	A	G	19: 28,882,794 (GRCm39)	I353V	probably benign	Het
Smox	A	G	2: 131,362,843 (GRCm39)	E374G	possibly damaging	Het
Sytl2	A	G	7: 90,050,633 (GRCm39)	T727A	possibly damaging	Het
Taar7d	A	C	10: 23,904,124 (GRCm39)	K335N	probably benign	Het
Tacc2	T	A	7: 130,227,985 (GRCm39)	S1557T	probably benign	Het
Tbx19	C	A	1: 164,966,609 (GRCm39)	V422L	probably benign	Het
Tdrd1	G	T	19: 56,831,679 (GRCm39)	V357F	probably benign	Het
Tdrd6	A	G	17: 43,939,231 (GRCm39)	C606R	probably damaging	Het
Tmcc1	C	G	6: 116,020,049 (GRCm39)	G468R		Het
Tmem209	G	A	6: 30,506,838 (GRCm39)	T93I	probably damaging	Het
Trpv1	T	C	11: 73,141,681 (GRCm39)	V568A	possibly damaging	Het
Tsbp1	A	T	17: 34,648,922 (GRCm39)	I43L		Het
Tubgcp2	T	C	7: 139,587,965 (GRCm39)	D220G	probably damaging	Het
Vmn1r11	A	G	6: 57,114,992 (GRCm39)	R219G	possibly damaging	Het
Zan	A	G	5: 137,465,463 (GRCm39)	S431P	possibly damaging	Het

Other mutations in Eif2b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Eif2b5	APN	16	20,324,002 (GRCm39)	missense	probably benign	0.19
IGL01073:Eif2b5	APN	16	20,319,046 (GRCm39)	nonsense	probably null
IGL01467:Eif2b5	APN	16	20,327,714 (GRCm39)	nonsense	probably null
IGL02754:Eif2b5	APN	16	20,321,536 (GRCm39)	missense	possibly damaging	0.50
IGL03286:Eif2b5	APN	16	20,321,012 (GRCm39)	missense	probably damaging	1.00
R0569:Eif2b5	UTSW	16	20,321,303 (GRCm39)	missense	probably benign	0.13
R1321:Eif2b5	UTSW	16	20,323,439 (GRCm39)	nonsense	probably null
R1647:Eif2b5	UTSW	16	20,321,335 (GRCm39)	missense	possibly damaging	0.77
R1648:Eif2b5	UTSW	16	20,321,335 (GRCm39)	missense	possibly damaging	0.77
R1897:Eif2b5	UTSW	16	20,325,787 (GRCm39)	missense	probably damaging	0.99
R2231:Eif2b5	UTSW	16	20,323,520 (GRCm39)	missense	probably benign
R3196:Eif2b5	UTSW	16	20,324,272 (GRCm39)	missense	probably benign
R4423:Eif2b5	UTSW	16	20,320,469 (GRCm39)	missense	probably benign	0.10
R4776:Eif2b5	UTSW	16	20,318,983 (GRCm39)	missense	probably damaging	1.00
R5240:Eif2b5	UTSW	16	20,320,148 (GRCm39)	missense	possibly damaging	0.49
R5828:Eif2b5	UTSW	16	20,321,536 (GRCm39)	missense	possibly damaging	0.50
R5920:Eif2b5	UTSW	16	20,317,694 (GRCm39)	missense	unknown
R5925:Eif2b5	UTSW	16	20,326,874 (GRCm39)	missense	probably benign	0.02
R6717:Eif2b5	UTSW	16	20,324,033 (GRCm39)	missense	probably damaging	0.96
R6915:Eif2b5	UTSW	16	20,321,500 (GRCm39)	missense	possibly damaging	0.83
R7396:Eif2b5	UTSW	16	20,324,887 (GRCm39)	missense	possibly damaging	0.69
R8046:Eif2b5	UTSW	16	20,325,154 (GRCm39)	missense	possibly damaging	0.88
R8196:Eif2b5	UTSW	16	20,321,306 (GRCm39)	missense	probably damaging	0.99
R8503:Eif2b5	UTSW	16	20,317,730 (GRCm39)	missense	probably benign	0.23
R8532:Eif2b5	UTSW	16	20,323,956 (GRCm39)	missense	probably damaging	0.99
R9336:Eif2b5	UTSW	16	20,324,027 (GRCm39)	missense	probably damaging	1.00
Z1187:Eif2b5	UTSW	16	20,317,671 (GRCm39)	missense	unknown
Z1192:Eif2b5	UTSW	16	20,317,671 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTATGTCAGTGAGAGGCGC -3'
(R):5'- TTAGGGCCGATGACACTGTTG -3'

Sequencing Primer
(F):5'- CGCTGAAAAGGCTTAGAAAGGTGAC -3'
(R):5'- ACTGTTGGTGATGGAGCAG -3'

Posted On

2022-02-07