Mutagenetix > Incidental Mutation

Incidental Mutation 'R2424:Eif2b3'

476247

Institutional Source

Beutler Lab

Gene Symbol

Eif2b3

Ensembl Gene

ENSMUSG00000028683

Gene Name

eukaryotic translation initiation factor 2B, subunit 3

Synonyms

1190002P15Rik

MMRRC Submission

040386-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2424 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

116876559-116944049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116928045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 421 (S421R)

Ref Sequence

ENSEMBL: ENSMUSP00000102055 (fasta)

Gene Model

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

AlphaFold

B1AUN2

Predicted Effect

probably benign
Transcript: ENSMUST00000070610

SMART Domains

Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683

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: S421R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: S421R

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

SMART Domains

Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155181

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,590,159 (GRCm39)		probably null	Het
Acot3	G	T	12: 84,100,638 (GRCm39)	R138L	probably damaging	Het
Ago3	A	G	4: 126,298,040 (GRCm39)	V160A	probably damaging	Het
Akap9	A	C	5: 4,115,279 (GRCm39)	E166D	probably damaging	Het
Arid5a	T	C	1: 36,357,582 (GRCm39)	Y136H	probably damaging	Het
Ascc3	T	C	10: 50,494,297 (GRCm39)	V244A	probably benign	Het
Atp10a	A	T	7: 58,444,303 (GRCm39)	H560L	probably benign	Het
Btbd6	A	G	12: 112,941,980 (GRCm39)	T482A	probably benign	Het
Cacna1d	A	T	14: 29,770,980 (GRCm39)	Y1828N	probably damaging	Het
Capzb	A	G	4: 138,921,441 (GRCm39)	M1V	probably null	Het
Cdh9	T	G	15: 16,850,440 (GRCm39)	F524L	probably damaging	Het
Ctnna1	T	C	18: 35,386,760 (GRCm39)	S846P	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dock7	T	A	4: 98,833,544 (GRCm39)	R1886*	probably null	Het
Dpp3	A	T	19: 4,957,735 (GRCm39)	L711*	probably null	Het
Dst	T	A	1: 34,206,141 (GRCm39)	I566N	probably damaging	Het
Epg5	T	C	18: 78,011,828 (GRCm39)	V825A	probably benign	Het
Eya1	T	A	1: 14,341,072 (GRCm39)		probably benign	Het
Fam187a	T	C	11: 102,776,780 (GRCm39)	Y195H	probably damaging	Het
Fbn2	C	T	18: 58,336,859 (GRCm39)	C132Y	probably damaging	Het
Fbxw21	A	T	9: 108,986,587 (GRCm39)	Y97*	probably null	Het
Grin1	A	T	2: 25,208,664 (GRCm39)	C79S	probably null	Het
Haao	T	A	17: 84,142,991 (GRCm39)	Y118F	probably damaging	Het
Il11ra1	T	A	4: 41,768,222 (GRCm39)	S378T	probably damaging	Het
Kcnj5	A	T	9: 32,234,116 (GRCm39)	N66K	probably damaging	Het
Kif21a	T	A	15: 90,855,399 (GRCm39)	N668I	probably damaging	Het
Kprp	A	T	3: 92,732,912 (GRCm39)	L46Q	probably damaging	Het
Lama1	C	T	17: 68,105,660 (GRCm39)	T2056I	probably benign	Het
Madd	G	C	2: 90,996,967 (GRCm39)	D824E	probably damaging	Het
Mapk9	A	G	11: 49,754,499 (GRCm39)	N84S	probably damaging	Het
Mrpl39	A	G	16: 84,527,748 (GRCm39)	V160A	probably benign	Het
Mrpl9	T	C	3: 94,351,113 (GRCm39)	S98P	probably benign	Het
Mybpc3	A	T	2: 90,966,138 (GRCm39)	M1233L	probably benign	Het
Neb	A	G	2: 52,099,671 (GRCm39)		probably benign	Het
Ngly1	A	G	14: 16,290,721 (GRCm38)		probably null	Het
Nt5c1b	A	T	12: 10,420,072 (GRCm39)	T4S	probably damaging	Het
Obscn	T	C	11: 58,885,277 (GRCm39)		probably benign	Het
Or2h2c	T	C	17: 37,422,408 (GRCm39)	I155M	probably benign	Het
Or4k15b	T	C	14: 50,272,281 (GRCm39)	Y193C	probably damaging	Het
Or8b1b	T	C	9: 38,376,128 (GRCm39)	S264P	probably damaging	Het
Or8g53	A	G	9: 39,683,593 (GRCm39)	F168L	probably benign	Het
Otog	A	T	7: 45,947,593 (GRCm39)	K64*	probably null	Het
Papola	A	G	12: 105,793,311 (GRCm39)	T544A	probably benign	Het
Phc1	A	G	6: 122,297,002 (GRCm39)	V790A	probably damaging	Het
Phf3	G	T	1: 30,845,430 (GRCm39)	R1252S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,730 (GRCm39)	T691A	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Rgs17	T	A	10: 5,783,111 (GRCm39)	I159F	probably damaging	Het
Rgs17	T	A	10: 5,792,560 (GRCm39)	E62V	probably benign	Het
Rnase1	A	G	14: 51,383,004 (GRCm39)	Y117H	possibly damaging	Het
Rnf214	T	C	9: 45,811,096 (GRCm39)	D189G	probably damaging	Het
Sema4b	A	G	7: 79,869,023 (GRCm39)	N365S	probably damaging	Het
Setd2	A	G	9: 110,446,590 (GRCm39)	H2480R	probably benign	Het
Slc27a6	G	T	18: 58,738,189 (GRCm39)	C415F	probably benign	Het
Stim1	A	G	7: 102,057,612 (GRCm39)	I142V	probably benign	Het
Supt5	T	C	7: 28,014,590 (GRCm39)	I1070V	possibly damaging	Het
Tbp	T	C	17: 15,733,795 (GRCm39)	F174L	possibly damaging	Het
Tex26	A	G	5: 149,393,913 (GRCm39)		probably benign	Het
Tmem132d	A	G	5: 127,941,663 (GRCm39)	V479A	probably benign	Het
Ttn	T	C	2: 76,711,489 (GRCm39)		probably benign	Het
Urb2	T	A	8: 124,757,165 (GRCm39)	N957K	probably benign	Het
Usp24	T	C	4: 106,256,310 (GRCm39)		probably null	Het
Vmn2r114	T	C	17: 23,515,842 (GRCm39)	T550A	possibly damaging	Het
Vmn2r72	A	G	7: 85,400,161 (GRCm39)	V296A	probably damaging	Het
Vmn2r91	C	A	17: 18,356,431 (GRCm39)	Y699*	probably null	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
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
R7299:Eif2b3	UTSW	4	116,910,019 (GRCm39)	missense	probably benign	0.27
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

Posted On

2017-05-11