Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01757:Eif2b1'

153209

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif2b1

Ensembl Gene

ENSMUSG00000029388

Gene Name

eukaryotic translation initiation factor 2B, subunit 1 (alpha)

Synonyms

EIF2B, D5Ertd406e, 26kDa, EIF2BA

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.973) question?

Stock #

IGL01757

Quality Score

Status

Chromosome

Chromosomal Location

124570213-124579131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124573140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 189 (K189E)

Ref Sequence

ENSEMBL: ENSMUSP00000031334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031334] [ENSMUST00000071057] [ENSMUST00000111438] [ENSMUST00000128920] [ENSMUST00000135361] [ENSMUST00000198318]

AlphaFold

Q99LC8

Predicted Effect

probably benign
Transcript: ENSMUST00000031334
AA Change: K189E

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388
AA Change: K189E

Domain	Start	End	E-Value	Type
Pfam:IF-2B	14	293	2.3e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071057

SMART Domains

Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389

Domain	Start	End	E-Value	Type
DEXDc	28	245	3.15e-51	SMART
HELICc	281	363	3.69e-25	SMART
DUF4217	402	465	1.44e-26	SMART
low complexity region	491	506	N/A	INTRINSIC
low complexity region	517	540	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111438

SMART Domains

Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389

Domain	Start	End	E-Value	Type
DEXDc	28	245	3.15e-51	SMART
HELICc	281	363	3.69e-25	SMART
DUF4217	398	461	1.44e-26	SMART
low complexity region	487	502	N/A	INTRINSIC
low complexity region	513	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128920

SMART Domains

Protein: ENSMUSP00000118760
Gene: ENSMUSG00000029388

Domain	Start	End	E-Value	Type
Pfam:IF-2B	28	133	1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135361

SMART Domains

Protein: ENSMUSP00000122923
Gene: ENSMUSG00000029388

Domain	Start	End	E-Value	Type
Pfam:IF-2B	13	172	2.4e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152716

Predicted Effect

probably benign
Transcript: ENSMUST00000198318

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the alpha subunit of the eukaryotic translation initiation factor complex 2B (eIF2B). The eIF2B complex is a heterodecamer comprised of two molecules each of alpha, beta, gamma, delta and epsilon subunits. The eIF2B complex is a critical regulator of protein synthesis acting as the guanine nucleotide exchange factor for eIF2 to enable the formation of ternary complex that is required for the initiation of mRNA translation. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,990,281		probably benign	Het
Adamts9	T	C	6: 92,796,159	Y1789C	probably damaging	Het
Cdcp1	A	T	9: 123,180,001	Y537*	probably null	Het
Chic2	T	C	5: 75,006,767		probably benign	Het
Cpa5	G	A	6: 30,625,927		probably benign	Het
Csgalnact2	T	C	6: 118,129,346	R4G	probably damaging	Het
Dnah10	T	A	5: 124,768,927	V1510D	probably benign	Het
Dnm2	T	A	9: 21,465,619	F91L	probably damaging	Het
Fgf17	A	T	14: 70,636,980	L123Q	probably damaging	Het
Ifna15	T	C	4: 88,558,085	K54R	possibly damaging	Het
Isg15	A	G	4: 156,199,844	C76R	probably damaging	Het
Ldb2	A	T	5: 44,541,867		probably benign	Het
Lig4	A	G	8: 9,971,185	I865T	probably benign	Het
Lrrc46	T	C	11: 97,035,875	Y154C	probably damaging	Het
Lrrc8a	G	A	2: 30,255,525	R117H	possibly damaging	Het
Mrpl2	A	G	17: 46,648,257	I96V	probably damaging	Het
Mtif2	G	A	11: 29,541,337		probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Ptpn23	G	A	9: 110,391,636	R269W	probably damaging	Het
Senp2	T	C	16: 22,009,664	V8A	probably benign	Het
Slf1	T	C	13: 77,084,440	D515G	probably benign	Het
Spc25	G	A	2: 69,202,608	Q58*	probably null	Het
Sult2a5	T	C	7: 13,665,154	S229P	probably damaging	Het
Tfap2d	A	G	1: 19,104,580	T86A	probably benign	Het
Trp53bp1	A	G	2: 121,211,304	V1257A	probably damaging	Het
Wdr6	A	G	9: 108,576,228	V152A	possibly damaging	Het
Zdhhc7	A	G	8: 120,087,923	V49A	probably benign	Het
Zfp648	T	C	1: 154,204,925	S277P	probably damaging	Het

Other mutations in Eif2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Eif2b1	APN	5	124576869	missense	probably damaging	1.00
IGL01541:Eif2b1	APN	5	124576902	missense	probably damaging	1.00
IGL03034:Eif2b1	APN	5	124571831	missense	probably benign	0.01
R0066:Eif2b1	UTSW	5	124573795	splice site	probably null
R0094:Eif2b1	UTSW	5	124571766	missense	probably benign	0.05
R2655:Eif2b1	UTSW	5	124576854	missense	probably damaging	0.99
R4842:Eif2b1	UTSW	5	124576908	missense	probably damaging	0.98
R5347:Eif2b1	UTSW	5	124578799	intron	probably benign
R5620:Eif2b1	UTSW	5	124579012	start codon destroyed	probably null	1.00
R5801:Eif2b1	UTSW	5	124574712	critical splice acceptor site	probably null
R6481:Eif2b1	UTSW	5	124577111	missense	probably benign	0.34
R6659:Eif2b1	UTSW	5	124579108	unclassified	probably benign
R6850:Eif2b1	UTSW	5	124579006	missense	probably benign	0.15
R7075:Eif2b1	UTSW	5	124571251	missense	probably damaging	1.00
R7418:Eif2b1	UTSW	5	124576830	missense	probably benign	0.11
R8125:Eif2b1	UTSW	5	124579099	unclassified	probably benign
R8144:Eif2b1	UTSW	5	124573145	missense	probably damaging	0.99
R9473:Eif2b1	UTSW	5	124574614	nonsense	probably null
R9526:Eif2b1	UTSW	5	124573804	missense	probably benign	0.03
X0066:Eif2b1	UTSW	5	124579057	start gained	probably benign

Posted On

2014-02-04