Mutagenetix > Incidental Mutation

Incidental Mutation 'R6798:Eif2b3'

533098

Institutional Source

Beutler Lab

Gene Symbol

Eif2b3

Ensembl Gene

ENSMUSG00000028683

Gene Name

eukaryotic translation initiation factor 2B, subunit 3

Synonyms

1190002P15Rik

MMRRC Submission

044911-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116876559-116944049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116923655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 290 (W290L)

Ref Sequence

ENSEMBL: ENSMUSP00000102056 (fasta)

Gene Model

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

AlphaFold

B1AUN2

Predicted Effect

probably benign
Transcript: ENSMUST00000070610
AA Change: W290L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683
AA Change: W290L

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: W290L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: W290L

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: W290L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683
AA Change: W290L

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

0.0669

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

97% (73/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,782,364 (GRCm39)	Y916H	probably damaging	Het
Adam11	A	G	11: 102,667,834 (GRCm39)	I740V	probably damaging	Het
Adam22	A	T	5: 8,210,784 (GRCm39)	D161E	probably damaging	Het
Agap3	A	G	5: 24,703,280 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,737,913 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,396,423 (GRCm39)	H867Q	possibly damaging	Het
Aurkaip1	T	C	4: 155,917,196 (GRCm39)		probably null	Het
BC048507	A	C	13: 68,011,683 (GRCm39)	D20A	probably benign	Het
Cacna1a	G	A	8: 85,338,231 (GRCm39)	A1704T	probably damaging	Het
Cep152	A	C	2: 125,408,447 (GRCm39)		probably null	Het
Cep19	T	C	16: 31,922,867 (GRCm39)		probably null	Het
Cfhr4	T	C	1: 139,625,859 (GRCm39)	T813A	probably benign	Het
Chd9	A	T	8: 91,778,182 (GRCm39)	E2731V	possibly damaging	Het
Chrd	T	C	16: 20,553,056 (GRCm39)	L139P	probably damaging	Het
Cit	A	G	5: 116,064,585 (GRCm39)	E489G	possibly damaging	Het
Clcn7	A	G	17: 25,378,734 (GRCm39)	N720D	probably damaging	Het
Col6a3	T	C	1: 90,722,731 (GRCm39)		probably null	Het
Dchs2	T	A	3: 83,255,593 (GRCm39)	Y2430N	probably damaging	Het
Dpy30	A	G	17: 74,614,751 (GRCm39)	I64T	probably damaging	Het
Epha6	T	G	16: 60,425,427 (GRCm39)	E62A	possibly damaging	Het
Epha6	C	T	16: 60,425,428 (GRCm39)	E62K	possibly damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw17	C	A	13: 50,587,300 (GRCm39)		probably null	Het
Fndc8	C	T	11: 82,783,217 (GRCm39)	T66I	probably benign	Het
Frmpd1	A	G	4: 45,284,850 (GRCm39)	T1224A	probably benign	Het
Gcm2	T	C	13: 41,259,361 (GRCm39)	D36G	probably damaging	Het
Glt28d2	T	C	3: 85,779,296 (GRCm39)	D59G	probably benign	Het
Gorasp1	T	C	9: 119,758,663 (GRCm39)	D243G	probably benign	Het
Gtsf1l	T	C	2: 162,929,391 (GRCm39)	K31E	probably benign	Het
Heatr5a	A	G	12: 51,928,048 (GRCm39)	V1816A	probably benign	Het
Il10ra	T	C	9: 45,167,730 (GRCm39)	K274E	probably damaging	Het
Il1rl2	T	C	1: 40,404,400 (GRCm39)	I507T	probably damaging	Het
Jak3	T	G	8: 72,133,615 (GRCm39)	F408V	probably damaging	Het
Kdm1b	A	G	13: 47,222,012 (GRCm39)	T484A	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Map9	T	G	3: 82,287,471 (GRCm39)	L31W	probably damaging	Het
Mical2	T	C	7: 111,975,266 (GRCm39)		probably benign	Het
Mt1	A	G	8: 94,906,516 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,909,252 (GRCm39)	I1964V	probably damaging	Het
Nalf1	G	A	8: 9,820,205 (GRCm39)	Q272*	probably null	Het
Nod1	A	T	6: 54,921,596 (GRCm39)	C241S	probably damaging	Het
Nrxn1	T	A	17: 90,937,378 (GRCm39)	D685V	probably damaging	Het
Oog1	A	T	12: 87,655,609 (GRCm39)		probably null	Het
Or11a4	T	G	17: 37,536,697 (GRCm39)	L227R	probably damaging	Het
Or2ag13	T	C	7: 106,313,402 (GRCm39)	Y162C	probably damaging	Het
Or4k2	A	G	14: 50,424,584 (GRCm39)	V30A	probably benign	Het
Or56b1b	T	A	7: 108,164,967 (GRCm39)	K12*	probably null	Het
P4htm	T	A	9: 108,460,117 (GRCm39)	N219I	possibly damaging	Het
Pcif1	T	C	2: 164,727,711 (GRCm39)	L168P	possibly damaging	Het
Pde4dip	A	G	3: 97,795,850 (GRCm39)	V46A	probably benign	Het
Pias1	T	C	9: 62,799,451 (GRCm39)	T480A	probably benign	Het
Prkd2	A	T	7: 16,583,128 (GRCm39)	K297*	probably null	Het
Prl7d1	T	A	13: 27,893,380 (GRCm39)		probably null	Het
Pxdc1	G	T	13: 34,836,408 (GRCm39)	A4E	possibly damaging	Het
Rcor1	A	G	12: 111,006,320 (GRCm39)		probably benign	Het
Rev3l	A	T	10: 39,730,759 (GRCm39)	D2761V	probably damaging	Het
Scgb1b7	A	G	7: 31,412,406 (GRCm39)	T61A	probably damaging	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Setd4	C	A	16: 93,386,841 (GRCm39)	V286F	probably damaging	Het
Slc22a29	A	G	19: 8,137,968 (GRCm39)	S536P	probably benign	Het
Snx25	T	C	8: 46,486,810 (GRCm39)	H977R	probably damaging	Het
Spint5	T	A	2: 164,559,060 (GRCm39)	C95*	probably null	Het
Sprr5	G	C	3: 92,440,243 (GRCm39)	C65W	unknown	Het
Srgap1	T	C	10: 121,761,809 (GRCm39)	D113G	probably damaging	Het
Stxbp2	T	A	8: 3,691,180 (GRCm39)	S476T	probably benign	Het
Tg	A	G	15: 66,550,688 (GRCm39)	T273A	probably damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trappc10	A	G	10: 78,024,665 (GRCm39)	Y1155H	probably benign	Het
Trpm2	T	A	10: 77,750,574 (GRCm39)	N1341Y	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfand1	T	G	3: 10,411,236 (GRCm39)	K67T	probably benign	Het
Zfand4	A	C	6: 116,305,214 (GRCm39)	K214Q	probably benign	Het
Zfp653	A	T	9: 21,968,668 (GRCm39)	V465E	probably damaging	Het
Zswim8	A	G	14: 20,766,060 (GRCm39)	Y782C	probably 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
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
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'- ACATCAGCTCTGTGACCTGAG -3'
(R):5'- GCTCAGCTTCAGAAGTGTAGAC -3'

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

Posted On

2018-08-29