Mutagenetix > Incidental Mutation

Incidental Mutation 'R6850:Eif2b1'

535590

Institutional Source

Beutler Lab

Gene Symbol

Eif2b1

Ensembl Gene

ENSMUSG00000029388

Gene Name

eukaryotic translation initiation factor 2B, subunit alpha

Synonyms

26kDa, EIF2BA, EIF2B, D5Ertd406e

MMRRC Submission

044954-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R6850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124708277-124717194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124717069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 3 (D3G)

Ref Sequence

ENSEMBL: ENSMUSP00000142748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031333] [ENSMUST00000031334] [ENSMUST00000128920] [ENSMUST00000135163] [ENSMUST00000135361] [ENSMUST00000198318]

AlphaFold

Q99LC8

Predicted Effect

probably benign
Transcript: ENSMUST00000031333

SMART Domains

Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387

Domain	Start	End	E-Value	Type
Pfam:Tfb4	8	287	2.1e-108	PFAM
low complexity region	299	306	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000031334
AA Change: D3G

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

SMART Domains

Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388
AA Change: D3G

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

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

unknown
Transcript: ENSMUST00000135163
AA Change: D3G

Predicted Effect

probably benign
Transcript: ENSMUST00000135361
AA Change: D3G

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

SMART Domains

Protein: ENSMUSP00000122923
Gene: ENSMUSG00000029388
AA Change: D3G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198318
AA Change: D3G

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,270,318 (GRCm39)	M927V	probably benign	Het
Agr2	A	G	12: 36,045,558 (GRCm39)	I15V	probably benign	Het
Alpk1	A	G	3: 127,523,012 (GRCm39)	I10T	possibly damaging	Het
Art5	A	G	7: 101,747,302 (GRCm39)	V159A	possibly damaging	Het
Asz1	G	A	6: 18,108,942 (GRCm39)	R32W	probably benign	Het
Atp8b1	A	C	18: 64,689,923 (GRCm39)	M603R	possibly damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Car9	A	G	4: 43,507,321 (GRCm39)	E3G	probably damaging	Het
Cpne3	A	T	4: 19,535,231 (GRCm39)	I267N	possibly damaging	Het
Cyp2c65	T	A	19: 39,057,535 (GRCm39)	F57I	probably benign	Het
D430041D05Rik	T	C	2: 104,031,604 (GRCm39)	K980R	probably damaging	Het
Dnhd1	G	T	7: 105,369,137 (GRCm39)	G4303W	possibly damaging	Het
Dnmt3a	A	G	12: 3,947,600 (GRCm39)	N485D	probably benign	Het
Dusp4	A	T	8: 35,283,651 (GRCm39)	K166*	probably null	Het
Ect2	T	C	3: 27,193,034 (GRCm39)	D344G	probably damaging	Het
Ermp1	A	G	19: 29,594,041 (GRCm39)	Y710H	probably damaging	Het
Gar1	T	C	3: 129,623,038 (GRCm39)	N117S	probably damaging	Het
H2-T10	A	G	17: 36,430,152 (GRCm39)	L263P	probably damaging	Het
Iqcn	A	T	8: 71,163,425 (GRCm39)	N873Y	probably damaging	Het
Itga7	A	T	10: 128,781,385 (GRCm39)	I621F	probably damaging	Het
Kcna3	A	T	3: 106,944,475 (GRCm39)	D246V	probably damaging	Het
Kctd12	C	T	14: 103,219,414 (GRCm39)	G155S	probably benign	Het
Lrtm1	T	C	14: 28,749,407 (GRCm39)	V256A	probably benign	Het
Mcf2l	T	C	8: 13,059,476 (GRCm39)	F629L	possibly damaging	Het
Mphosph9	A	G	5: 124,399,019 (GRCm39)	F999L	probably damaging	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Obscn	C	T	11: 58,892,955 (GRCm39)	A6764T	possibly damaging	Het
Obscn	C	T	11: 58,958,950 (GRCm39)	V3643M	possibly damaging	Het
Or4c102	T	A	2: 88,422,650 (GRCm39)	C167*	probably null	Het
Or8g18	T	C	9: 39,149,271 (GRCm39)	I150V	probably benign	Het
Pdhx	T	C	2: 102,871,445 (GRCm39)	H195R	probably damaging	Het
Pdilt	A	T	7: 119,086,182 (GRCm39)	V511E	probably damaging	Het
Prima1	C	T	12: 103,163,594 (GRCm39)	D126N	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Prune2	C	A	19: 17,099,552 (GRCm39)	D1685E	probably benign	Het
Ptgs2	A	T	1: 149,981,291 (GRCm39)	I525F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,441 (GRCm39)	F259I	possibly damaging	Het
Ranbp3l	C	A	15: 9,058,808 (GRCm39)	D216E	probably damaging	Het
Scn5a	A	T	9: 119,330,815 (GRCm39)	L1240Q	possibly damaging	Het
Sohlh2	A	T	3: 55,099,707 (GRCm39)	T160S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31h1	A	C	10: 82,128,888 (GRCm39)	M1374R	possibly damaging	Het
Tank	A	G	2: 61,480,346 (GRCm39)	E294G	probably benign	Het
Tars1	T	A	15: 11,392,885 (GRCm39)	Y187F	probably benign	Het
Tas2r144	T	A	6: 42,192,857 (GRCm39)	M199K	possibly damaging	Het
Tdrd3	T	C	14: 87,695,515 (GRCm39)		probably benign	Het
Tecta	T	A	9: 42,255,134 (GRCm39)	D1683V	probably benign	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tmie	A	G	9: 110,695,980 (GRCm39)	I137T	possibly damaging	Het
Trim45	T	A	3: 100,830,541 (GRCm39)	L105*	probably null	Het
Trpv3	G	A	11: 73,182,519 (GRCm39)	G568S	probably damaging	Het
Wdr75	A	G	1: 45,853,758 (GRCm39)	T390A	probably benign	Het
Wdr97	A	G	15: 76,241,996 (GRCm39)	Y763C	probably damaging	Het
Zfp35	G	A	18: 24,135,839 (GRCm39)	R61H	possibly damaging	Het

Other mutations in Eif2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Eif2b1	APN	5	124,714,932 (GRCm39)	missense	probably damaging	1.00
IGL01541:Eif2b1	APN	5	124,714,965 (GRCm39)	missense	probably damaging	1.00
IGL01757:Eif2b1	APN	5	124,711,203 (GRCm39)	missense	probably benign	0.14
IGL03034:Eif2b1	APN	5	124,709,894 (GRCm39)	missense	probably benign	0.01
R0066:Eif2b1	UTSW	5	124,711,858 (GRCm39)	splice site	probably null
R0094:Eif2b1	UTSW	5	124,709,829 (GRCm39)	missense	probably benign	0.05
R2655:Eif2b1	UTSW	5	124,714,917 (GRCm39)	missense	probably damaging	0.99
R4842:Eif2b1	UTSW	5	124,714,971 (GRCm39)	missense	probably damaging	0.98
R5347:Eif2b1	UTSW	5	124,716,862 (GRCm39)	intron	probably benign
R5620:Eif2b1	UTSW	5	124,717,075 (GRCm39)	start codon destroyed	probably null	1.00
R5801:Eif2b1	UTSW	5	124,712,775 (GRCm39)	critical splice acceptor site	probably null
R6481:Eif2b1	UTSW	5	124,715,174 (GRCm39)	missense	probably benign	0.34
R6659:Eif2b1	UTSW	5	124,717,171 (GRCm39)	unclassified	probably benign
R7075:Eif2b1	UTSW	5	124,709,314 (GRCm39)	missense	probably damaging	1.00
R7418:Eif2b1	UTSW	5	124,714,893 (GRCm39)	missense	probably benign	0.11
R8125:Eif2b1	UTSW	5	124,717,162 (GRCm39)	unclassified	probably benign
R8144:Eif2b1	UTSW	5	124,711,208 (GRCm39)	missense	probably damaging	0.99
R9473:Eif2b1	UTSW	5	124,712,677 (GRCm39)	nonsense	probably null
R9526:Eif2b1	UTSW	5	124,711,867 (GRCm39)	missense	probably benign	0.03
X0066:Eif2b1	UTSW	5	124,717,120 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTGCAGTCTTTTGAGCAG -3'
(R):5'- GTGCCTCTAAAGACCAAAAGTATCC -3'

Sequencing Primer
(F):5'- TGAGCAGTGTTCGCCAATC -3'
(R):5'- GTCAGCGGCCATTGCTTC -3'

Posted On

2018-09-12