Mutagenetix > Incidental Mutation

Incidental Mutation 'R4998:Eif2b3'

389623

Institutional Source

Beutler Lab

Gene Symbol

Eif2b3

Ensembl Gene

ENSMUSG00000028683

Gene Name

eukaryotic translation initiation factor 2B, subunit 3

Synonyms

1190002P15Rik

MMRRC Submission

042592-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4998 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116876559-116944049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 116923589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 268 (K268T)

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: K268T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683
AA Change: K268T

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: K268T

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: K268T

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: K268T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683
AA Change: K268T

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

Meta Mutation Damage Score

0.2635

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (91/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,088 (GRCm39)	V135A	probably damaging	Het
Ankrd42	T	C	7: 92,273,282 (GRCm39)	N115S	possibly damaging	Het
Baz1a	T	C	12: 55,021,922 (GRCm39)	E120G	probably damaging	Het
Calcrl	A	T	2: 84,169,658 (GRCm39)	V341E	probably damaging	Het
Card6	T	C	15: 5,129,564 (GRCm39)	R611G	probably benign	Het
Cd70	A	T	17: 57,453,311 (GRCm39)	S118T	probably damaging	Het
Chil5	T	A	3: 105,927,248 (GRCm39)	I188F	probably damaging	Het
Clca4b	C	T	3: 144,621,269 (GRCm39)	V602I	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Col6a4	A	G	9: 105,867,977 (GRCm39)		probably benign	Het
Cox8b	T	C	7: 140,479,001 (GRCm39)	E38G	probably damaging	Het
Cx3cl1	C	G	8: 95,507,053 (GRCm39)	L353V	probably damaging	Het
Cyp2a4	G	T	7: 26,006,786 (GRCm39)	Q48H	probably damaging	Het
Defb8	T	C	8: 19,497,603 (GRCm39)	I3V	probably benign	Het
Dip2a	A	T	10: 76,155,390 (GRCm39)	L65*	probably null	Het
Dnaaf4	A	G	9: 72,867,960 (GRCm39)	T74A	possibly damaging	Het
Dsg2	A	T	18: 20,734,578 (GRCm39)	D852V	probably benign	Het
Edar	T	C	10: 58,441,915 (GRCm39)	R326G	probably damaging	Het
Egfr	A	G	11: 16,831,493 (GRCm39)	E554G	possibly damaging	Het
Enox1	A	T	14: 77,738,875 (GRCm39)		probably benign	Het
Enpp3	C	A	10: 24,683,436 (GRCm39)	M260I	probably benign	Het
Espn	A	T	4: 152,220,040 (GRCm39)	M361K	possibly damaging	Het
Fam107a	T	C	14: 8,299,514 (GRCm38)	N108S	possibly damaging	Het
Fbn2	A	T	18: 58,205,703 (GRCm39)	V1125D	probably damaging	Het
Fbxo30	T	A	10: 11,166,507 (GRCm39)	S410T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fcsk	G	A	8: 111,614,435 (GRCm39)	A618V	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm17416	C	A	2: 152,411,427 (GRCm39)	P57Q	probably damaging	Het
Gm27013	A	T	6: 130,653,501 (GRCm39)	C654S	probably damaging	Het
Gon4l	G	T	3: 88,807,305 (GRCm39)	E1666D	probably damaging	Het
Gypa	T	A	8: 81,222,964 (GRCm39)	S23T	unknown	Het
Gys1	C	A	7: 45,100,968 (GRCm39)		probably benign	Het
Hdac10	T	A	15: 89,008,143 (GRCm39)	Q569L	possibly damaging	Het
Icos	A	G	1: 61,032,941 (GRCm39)	T47A	possibly damaging	Het
Igfn1	T	A	1: 135,882,404 (GRCm39)	I2814F	probably damaging	Het
Kif27	A	G	13: 58,440,957 (GRCm39)	S1153P	probably damaging	Het
Lin28a	A	C	4: 133,746,028 (GRCm39)	F9V	possibly damaging	Het
Lrriq3	T	A	3: 154,893,695 (GRCm39)	N465K	probably benign	Het
Lsm14a	T	C	7: 34,074,799 (GRCm39)	E47G	probably damaging	Het
Mmel1	A	G	4: 154,969,967 (GRCm39)	K177R	probably benign	Het
Ncstn	T	A	1: 171,899,087 (GRCm39)	N348I	possibly damaging	Het
Ninl	A	G	2: 150,795,284 (GRCm39)	I619T	probably damaging	Het
Npb	T	C	11: 120,499,401 (GRCm39)	Y23H	probably damaging	Het
Npepps	A	G	11: 97,096,933 (GRCm39)		probably benign	Het
Or8k30	T	C	2: 86,339,699 (GRCm39)	Y299H	probably benign	Het
Otop1	G	A	5: 38,451,892 (GRCm39)		probably null	Het
Pcdha1	T	C	18: 37,065,469 (GRCm39)	L711P	probably damaging	Het
Pcyt1a	A	G	16: 32,270,660 (GRCm39)		probably benign	Het
Pdpr	G	T	8: 111,841,400 (GRCm39)	V211F	probably damaging	Het
Pip4k2b	T	C	11: 97,613,261 (GRCm39)	N245S	possibly damaging	Het
Platr26	G	A	2: 71,561,214 (GRCm39)		noncoding transcript	Het
Plek	A	G	11: 16,933,194 (GRCm39)		probably null	Het
Potefam3c	G	C	8: 69,906,010 (GRCm39)	N13K	probably benign	Het
Prdm15	A	T	16: 97,595,689 (GRCm39)	D1046E	probably damaging	Het
Prr29	T	G	11: 106,267,779 (GRCm39)	C175G	probably benign	Het
Ptpru	A	G	4: 131,504,196 (GRCm39)	V1097A	probably damaging	Het
Ramp2	T	A	11: 101,138,247 (GRCm39)		probably benign	Het
Rap1gap	A	G	4: 137,455,595 (GRCm39)	D381G	possibly damaging	Het
Rbbp6	T	A	7: 122,589,549 (GRCm39)	D412E	probably benign	Het
Rgs4	C	T	1: 169,572,802 (GRCm39)	V45I	probably benign	Het
Ryr2	C	T	13: 11,658,781 (GRCm39)	R3614Q	probably damaging	Het
Shc3	G	A	13: 51,596,856 (GRCm39)		probably null	Het
Shmt2	A	T	10: 127,354,139 (GRCm39)	C412S	probably damaging	Het
Slc25a45	A	T	19: 5,934,945 (GRCm39)	N265Y	probably damaging	Het
Slc4a10	G	C	2: 62,074,783 (GRCm39)	E316Q	probably benign	Het
Slc5a8	T	C	10: 88,743,919 (GRCm39)		probably null	Het
Snx31	A	G	15: 36,539,513 (GRCm39)	V121A	probably damaging	Het
Socs3	T	C	11: 117,858,542 (GRCm39)	E172G	probably damaging	Het
Tg	A	G	15: 66,545,899 (GRCm39)	D207G	probably damaging	Het
Them4	G	T	3: 94,237,088 (GRCm39)	V183F	probably damaging	Het
Tkt	G	A	14: 30,287,499 (GRCm39)	W136*	probably null	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tmc3	C	A	7: 83,271,529 (GRCm39)	R894S	probably benign	Het
Tmem132a	G	T	19: 10,836,305 (GRCm39)	P742T	probably benign	Het
Tmem202	A	G	9: 59,432,129 (GRCm39)	L66P	probably damaging	Het
Trbc1	G	A	6: 41,516,270 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,511 (GRCm39)	F158L	probably benign	Het
Ttc13	A	T	8: 125,406,795 (GRCm39)	N595K	probably damaging	Het
Ucp1	A	G	8: 84,024,484 (GRCm39)		probably null	Het
Zbtb4	C	T	11: 69,669,497 (GRCm39)	T740I	probably benign	Het
Zfp69	A	T	4: 120,804,522 (GRCm39)	D116E	possibly damaging	Het
Zfp879	A	G	11: 50,728,796 (GRCm39)	L66S	probably damaging	Het
Zfp955b	T	A	17: 33,524,125 (GRCm39)		probably benign	Het
Zfyve1	T	C	12: 83,594,839 (GRCm39)	I718V	possibly damaging	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
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

PCR Primer
(F):5'- TCTTCAGTCATCTCACCGTAAAAC -3'
(R):5'- AAGTCCTTGGGCCCATCTTC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GGGCCCATCTTCTTACCTG -3'

Posted On

2016-06-06