Mutagenetix > Incidental Mutation

Incidental Mutation 'R7396:Eif2b5'

573857

Institutional Source

Beutler Lab

Gene Symbol

Eif2b5

Ensembl Gene

ENSMUSG00000003235

Gene Name

eukaryotic translation initiation factor 2B, subunit 5 epsilon

Synonyms

MMRRC Submission

045478-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20317567-20328073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 20324887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 515 (I515S)

Ref Sequence

ENSEMBL: ENSMUSP00000003320 (fasta)

Gene Model

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

AlphaFold

Q8CHW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003320
AA Change: I515S

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: I515S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,831,609 (GRCm39)	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,351,722 (GRCm39)	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,373,052 (GRCm39)	L185H	probably damaging	Het
Actr1a	G	A	19: 46,368,068 (GRCm39)	T293I	probably benign	Het
Adig	T	C	2: 158,347,836 (GRCm39)	L50P	unknown	Het
Ankrd28	A	G	14: 31,424,159 (GRCm39)	S994P	probably benign	Het
Ankrd35	T	A	3: 96,590,813 (GRCm39)	D366E	probably damaging	Het
Aqr	A	T	2: 113,950,427 (GRCm39)	Y927*	probably null	Het
Asxl2	T	A	12: 3,492,529 (GRCm39)	I38N	probably damaging	Het
Atp9b	T	C	18: 80,780,057 (GRCm39)	I1092V		Het
B4galnt1	A	G	10: 127,007,485 (GRCm39)	E462G	possibly damaging	Het
BC048671	T	A	6: 90,280,273 (GRCm39)	V63E	probably damaging	Het
Bod1l	A	G	5: 41,988,889 (GRCm39)	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,645,668 (GRCm39)	I234L	probably benign	Het
Camk2b	A	C	11: 5,928,432 (GRCm39)	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,870,374 (GRCm39)		probably null	Het
Ces1b	G	T	8: 93,789,757 (GRCm39)	N390K	probably benign	Het
Chpf	T	C	1: 75,451,927 (GRCm39)	Q671R	probably benign	Het
Cspg4b	T	A	13: 113,455,524 (GRCm39)	S523R		Het
Dbr1	C	A	9: 99,465,443 (GRCm39)	N340K	probably damaging	Het
Dram1	T	A	10: 88,176,507 (GRCm39)	T73S	probably benign	Het
Efemp1	A	T	11: 28,817,501 (GRCm39)	R39S	possibly damaging	Het
Eif2d	A	T	1: 131,094,111 (GRCm39)	N434I	probably benign	Het
Ercc6	C	T	14: 32,291,762 (GRCm39)	T1042I	probably benign	Het
Etl4	C	T	2: 20,803,449 (GRCm39)	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,278,091 (GRCm39)	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,517,954 (GRCm39)	D344G	probably benign	Het
Fgf15	G	T	7: 144,453,542 (GRCm39)	V172L	probably benign	Het
Fmod	T	C	1: 133,967,978 (GRCm39)	V6A	probably benign	Het
Furin	C	A	7: 80,047,862 (GRCm39)	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207 (GRCm39)	V297A	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Helb	T	C	10: 119,925,476 (GRCm39)	D967G	probably benign	Het
Hmcn1	T	C	1: 150,439,382 (GRCm39)	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,276,634 (GRCm39)	P70Q	not run	Het
Hsd17b1	T	C	11: 100,970,033 (GRCm39)	V155A	probably damaging	Het
Ireb2	T	A	9: 54,789,617 (GRCm39)	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,563,306 (GRCm39)	L397F	probably benign	Het
Lcorl	A	T	5: 46,014,801 (GRCm39)		probably null	Het
Lgi2	A	T	5: 52,695,753 (GRCm39)	I402N	probably damaging	Het
Lrat	T	A	3: 82,810,590 (GRCm39)	R144*	probably null	Het
Mfhas1	G	T	8: 36,057,353 (GRCm39)	L609F	probably damaging	Het
Mink1	T	A	11: 70,495,994 (GRCm39)	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,362,152 (GRCm39)	D1821V	unknown	Het
Myh2	T	C	11: 67,085,554 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,234,044 (GRCm39)	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,443,802 (GRCm39)	V76M	probably damaging	Het
Neurod4	T	C	10: 130,106,891 (GRCm39)	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,765,615 (GRCm39)	D59E	probably benign	Het
Or2j6	C	T	7: 139,980,476 (GRCm39)	R161H	probably benign	Het
Or2w1b	T	C	13: 21,300,477 (GRCm39)	V205A	probably benign	Het
Or52n2b	C	T	7: 104,565,558 (GRCm39)	S315N	probably benign	Het
Pcdh15	T	A	10: 74,466,522 (GRCm39)	V1513D	probably benign	Het
Pclo	C	A	5: 14,589,902 (GRCm39)	T734K	unknown	Het
Phc2	A	G	4: 128,641,954 (GRCm39)	R759G	probably benign	Het
Plch1	A	T	3: 63,606,375 (GRCm39)	N1176K	probably benign	Het
Plec	T	A	15: 76,059,089 (GRCm39)	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,282,707 (GRCm39)	T426N	probably benign	Het
Rictor	A	G	15: 6,816,462 (GRCm39)	T1245A	not run	Het
Rilp	T	C	11: 75,401,712 (GRCm39)	V164A	probably damaging	Het
Rnf39	A	T	17: 37,257,971 (GRCm39)	T168S	probably damaging	Het
Rptor	C	G	11: 119,763,181 (GRCm39)	Q922E	probably benign	Het
Sall1	A	T	8: 89,759,396 (GRCm39)	L236Q	probably damaging	Het
Skint7	A	G	4: 111,845,324 (GRCm39)	T379A	probably benign	Het
Spata22	C	A	11: 73,236,702 (GRCm39)	T336N	probably damaging	Het
Spata31	T	C	13: 65,068,547 (GRCm39)	S232P	probably benign	Het
Spink5	T	A	18: 44,110,722 (GRCm39)	C98S	possibly damaging	Het
Stard6	T	C	18: 70,633,506 (GRCm39)	V171A	possibly damaging	Het
Tex9	A	T	9: 72,388,072 (GRCm39)		probably null	Het
Traf7	T	C	17: 24,728,519 (GRCm39)	D621G	probably damaging	Het
Trak1	C	T	9: 121,277,973 (GRCm39)	T353M	possibly damaging	Het
Trim68	A	T	7: 102,327,569 (GRCm39)	Y461*	probably null	Het
Usp1	A	G	4: 98,814,688 (GRCm39)		probably benign	Het
Vmn2r42	T	A	7: 8,195,641 (GRCm39)	I502F	probably benign	Het
Wbp4	C	A	14: 79,714,261 (GRCm39)	G84C	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp787	A	G	7: 6,135,106 (GRCm39)	*382Q	probably null	Het
Zfp831	G	T	2: 174,487,002 (GRCm39)	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,007,882 (GRCm39)	A140P	probably benign	Het
Zscan4e	T	A	7: 11,041,002 (GRCm39)	Y290F	probably benign	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
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
R9222:Eif2b5	UTSW	16	20,321,382 (GRCm39)	nonsense	probably null
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'- ACAGGACACACTGCTAGCTG -3'
(R):5'- CTTTCTGGGAGGAACTGAGC -3'

Sequencing Primer
(F):5'- AGCAAGTGCCTTTACAGCTG -3'
(R):5'- CCGGGGGCTAGCTGCTAG -3'

Posted On

2019-09-13