Mutagenetix > Incidental Mutation

Incidental Mutation 'R7299:Eif2b3'

566846

Institutional Source

Beutler Lab

Gene Symbol

Eif2b3

Ensembl Gene

ENSMUSG00000028683

Gene Name

eukaryotic translation initiation factor 2B, subunit 3

Synonyms

1190002P15Rik

MMRRC Submission

045403-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116876559-116944049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116910019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 185 (S185T)

Ref Sequence

ENSEMBL: ENSMUSP00000102055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070610] [ENSMUST00000106447] [ENSMUST00000106448]

AlphaFold

B1AUN2

Predicted Effect

probably benign
Transcript: ENSMUST00000070610
AA Change: S185T

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683
AA Change: S185T

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	4	139	8.2e-20	PFAM
Pfam:NTP_transf_3	5	226	8.5e-19	PFAM
low complexity region	247	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106447
AA Change: S185T

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: S185T

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	4	139	1.1e-19	PFAM
Pfam:NTP_transf_3	5	221	1.7e-18	PFAM
low complexity region	247	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106448
AA Change: S185T

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683
AA Change: S185T

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	4	140	3.2e-19	PFAM
Pfam:NTP_transf_3	5	237	3.7e-18	PFAM
low complexity region	247	262	N/A	INTRINSIC

Meta Mutation Damage Score

0.0765

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Abca13	A	T	11: 9,244,649 (GRCm39)	N2171Y	probably damaging	Het
Abcc8	G	A	7: 45,754,922 (GRCm39)	T1532I	possibly damaging	Het
Abtb2	A	T	2: 103,532,769 (GRCm39)		probably null	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Akap9	C	A	5: 4,082,696 (GRCm39)	T1940K	probably damaging	Het
Ccdc8	A	G	7: 16,729,956 (GRCm39)	T482A	unknown	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cenpt	G	A	8: 106,576,536 (GRCm39)	Q45*	probably null	Het
Cnga1	T	C	5: 72,762,775 (GRCm39)	I246M	probably benign	Het
Cnot7	A	G	8: 40,960,586 (GRCm39)	I74T	probably damaging	Het
Cog6	T	C	3: 52,909,928 (GRCm39)	S275G	probably benign	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Ergic2	T	A	6: 148,089,610 (GRCm39)	Y249F	probably damaging	Het
Exoc1	T	A	5: 76,690,006 (GRCm39)	M182K	probably damaging	Het
Fhdc1	T	C	3: 84,351,847 (GRCm39)	E1126G	probably damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gap43	T	C	16: 42,112,615 (GRCm39)	K49E	probably damaging	Het
Gata4	T	A	14: 63,441,191 (GRCm39)	T276S	probably damaging	Het
Gca	C	T	2: 62,520,320 (GRCm39)	P160L	probably benign	Het
Ghdc	C	T	11: 100,658,942 (GRCm39)	V397I	possibly damaging	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gtf3c3	G	A	1: 54,456,867 (GRCm39)	P511L	probably benign	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Itgb8	T	C	12: 119,166,196 (GRCm39)	N112D	probably benign	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Krtap26-1	T	C	16: 88,444,132 (GRCm39)	Y163C	possibly damaging	Het
Kyat1	T	C	2: 30,082,007 (GRCm39)	D44G	probably benign	Het
Mob1a	G	A	6: 83,315,431 (GRCm39)		probably null	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Nhsl1	A	G	10: 18,403,419 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Odad2	T	C	18: 7,222,635 (GRCm39)	K545E	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or1s2	G	A	19: 13,758,688 (GRCm39)	W235*	probably null	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Ptpro	G	A	6: 137,418,142 (GRCm39)		probably null	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Ralgps1	T	C	2: 33,047,885 (GRCm39)	K365R	probably benign	Het
Reep1	A	T	6: 71,738,373 (GRCm39)	I44L	probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmem263	T	A	10: 84,950,261 (GRCm39)		probably null	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Tnrc6a	A	C	7: 122,770,136 (GRCm39)	N642T	probably benign	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Trak1	A	G	9: 121,280,929 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,225,048 (GRCm39)	I799T	possibly damaging	Het
Ttc7	T	C	17: 87,653,970 (GRCm39)	I549T	possibly damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Wrn	A	G	8: 33,782,746 (GRCm39)	F728S	probably damaging	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfp418	T	A	7: 7,185,827 (GRCm39)	C597S	possibly damaging	Het
Zfp568	A	G	7: 29,716,669 (GRCm39)	T190A	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	Het

Other mutations in Eif2b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Eif2b3	APN	4	116,923,666 (GRCm39)	missense	probably benign
IGL01333:Eif2b3	APN	4	116,927,887 (GRCm39)	missense	probably benign	0.31
IGL01564:Eif2b3	APN	4	116,885,739 (GRCm39)	missense	probably benign	0.00
IGL01721:Eif2b3	APN	4	116,916,001 (GRCm39)	missense	probably damaging	1.00
IGL02061:Eif2b3	APN	4	116,885,608 (GRCm39)	missense	possibly damaging	0.78
Cambio	UTSW	4	116,923,578 (GRCm39)	nonsense	probably null
mogrify	UTSW	4	116,885,622 (GRCm39)	missense	possibly damaging	0.66
R0835:Eif2b3	UTSW	4	116,916,002 (GRCm39)	missense	probably damaging	1.00
R0924:Eif2b3	UTSW	4	116,938,775 (GRCm39)	missense	possibly damaging	0.93
R2167:Eif2b3	UTSW	4	116,885,737 (GRCm39)	missense	probably damaging	1.00
R2424:Eif2b3	UTSW	4	116,928,045 (GRCm39)	missense	probably benign	0.01
R3902:Eif2b3	UTSW	4	116,879,404 (GRCm39)	missense	probably damaging	1.00
R4105:Eif2b3	UTSW	4	116,938,831 (GRCm39)	missense	probably damaging	1.00
R4688:Eif2b3	UTSW	4	116,916,046 (GRCm39)	missense	probably benign	0.03
R4998:Eif2b3	UTSW	4	116,923,589 (GRCm39)	missense	probably benign	0.06
R5033:Eif2b3	UTSW	4	116,909,933 (GRCm39)	missense	probably damaging	1.00
R5123:Eif2b3	UTSW	4	116,879,408 (GRCm39)	missense	probably damaging	1.00
R5493:Eif2b3	UTSW	4	116,943,919 (GRCm39)	missense	possibly damaging	0.92
R5787:Eif2b3	UTSW	4	116,901,637 (GRCm39)	missense	probably damaging	1.00
R5789:Eif2b3	UTSW	4	116,885,692 (GRCm39)	missense	probably damaging	1.00
R6347:Eif2b3	UTSW	4	116,901,763 (GRCm39)	missense	probably benign	0.05
R6361:Eif2b3	UTSW	4	116,885,622 (GRCm39)	missense	possibly damaging	0.66
R6643:Eif2b3	UTSW	4	116,927,954 (GRCm39)	missense	probably damaging	0.97
R6798:Eif2b3	UTSW	4	116,923,655 (GRCm39)	missense	probably benign	0.00
R7301:Eif2b3	UTSW	4	116,910,019 (GRCm39)	missense	probably benign	0.27
R7451:Eif2b3	UTSW	4	116,909,993 (GRCm39)	nonsense	probably null
R7934:Eif2b3	UTSW	4	116,923,675 (GRCm39)	missense	probably benign
R8117:Eif2b3	UTSW	4	116,879,414 (GRCm39)	missense	probably damaging	0.98
R8725:Eif2b3	UTSW	4	116,927,944 (GRCm39)	missense	probably benign	0.01
R8727:Eif2b3	UTSW	4	116,927,944 (GRCm39)	missense	probably benign	0.01
R8816:Eif2b3	UTSW	4	116,928,052 (GRCm39)	missense	probably benign
R8943:Eif2b3	UTSW	4	116,901,778 (GRCm39)	missense	probably damaging	0.99
R9141:Eif2b3	UTSW	4	116,923,578 (GRCm39)	nonsense	probably null
R9426:Eif2b3	UTSW	4	116,923,578 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTGTCCCTGATTAGACATG -3'
(R):5'- AGTGCAGGACTTGGCTCTAC -3'

Sequencing Primer
(F):5'- TGTCCCTGATTAGACATGCGACAG -3'
(R):5'- ACACTAAGTGCATGCCGTG -3'

Posted On

2019-06-26