Mutagenetix > Incidental Mutation

Incidental Mutation 'R0358:Eif2ak4'

261856

Institutional Source

Beutler Lab

Gene Symbol

Eif2ak4

Ensembl Gene

ENSMUSG00000005102

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 4

Synonyms

GCN2

MMRRC Submission

038564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0358 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

118219099-118305715 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 118294410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005233] [ENSMUST00000102527] [ENSMUST00000110870] [ENSMUST00000110872] [ENSMUST00000110874]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000005233

SMART Domains

Protein: ENSMUSP00000005233
Gene: ENSMUSG00000005102

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
RWD	25	137	3.42e-38	SMART
coiled coil region	146	205	N/A	INTRINSIC
Pfam:Pkinase	323	538	4.6e-27	PFAM
Pfam:Pkinase_Tyr	326	535	5.5e-18	PFAM
Pfam:Pkinase	589	663	1.7e-11	PFAM
Pfam:Pkinase_Tyr	589	663	1.2e-5	PFAM
low complexity region	728	738	N/A	INTRINSIC
Pfam:Pkinase	781	1000	2.6e-38	PFAM
Pfam:Pkinase_Tyr	786	998	1.8e-18	PFAM
Pfam:tRNA-synt_His	1054	1380	5.7e-18	PFAM
Pfam:HGTP_anticodon2	1392	1647	5.8e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102527

SMART Domains

Protein: ENSMUSP00000099586
Gene: ENSMUSG00000005102

Domain	Start	End	E-Value	Type
coiled coil region	34	93	N/A	INTRINSIC
Pfam:Pkinase	211	426	1.6e-22	PFAM
Pfam:Pkinase_Tyr	215	423	6.8e-18	PFAM
Pfam:Pkinase_Tyr	477	551	1.2e-5	PFAM
Pfam:Pkinase	477	552	3.9e-11	PFAM
low complexity region	616	626	N/A	INTRINSIC
Pfam:Pkinase	647	888	9.4e-42	PFAM
Pfam:Pkinase_Tyr	672	886	1.4e-19	PFAM
Pfam:tRNA-synt_His	941	1268	4.8e-19	PFAM
Pfam:HGTP_anticodon2	1280	1535	1e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110870

SMART Domains

Protein: ENSMUSP00000106494
Gene: ENSMUSG00000005102

Domain	Start	End	E-Value	Type
Pfam:Pkinase	45	260	3.3e-22	PFAM
Pfam:Pkinase_Tyr	47	257	1.3e-17	PFAM
Pfam:Pkinase_Tyr	311	385	2.5e-5	PFAM
Pfam:Pkinase	311	386	8e-11	PFAM
low complexity region	450	460	N/A	INTRINSIC
Pfam:Pkinase	481	722	1.9e-41	PFAM
Pfam:Pkinase_Tyr	506	720	2.8e-19	PFAM
Pfam:tRNA-synt_His	775	1102	8.7e-19	PFAM
Pfam:HGTP_anticodon2	1114	1369	1.9e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110872

SMART Domains

Protein: ENSMUSP00000106496
Gene: ENSMUSG00000005102

Domain	Start	End	E-Value	Type
coiled coil region	25	84	N/A	INTRINSIC
Pfam:Pkinase	202	417	3.8e-22	PFAM
Pfam:Pkinase_Tyr	206	414	1.6e-17	PFAM
Pfam:Pkinase_Tyr	468	542	2.8e-5	PFAM
Pfam:Pkinase	468	543	9.1e-11	PFAM
low complexity region	607	617	N/A	INTRINSIC
Pfam:Pkinase	638	879	2.2e-41	PFAM
Pfam:Pkinase_Tyr	663	877	3.3e-19	PFAM
Pfam:tRNA-synt_His	932	1259	1.1e-18	PFAM
Pfam:HGTP_anticodon2	1271	1526	2.2e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110874

SMART Domains

Protein: ENSMUSP00000106498
Gene: ENSMUSG00000005102

Domain	Start	End	E-Value	Type
Pfam:RWD	8	56	6.4e-8	PFAM
coiled coil region	68	127	N/A	INTRINSIC
Pfam:Pkinase	245	460	1.1e-22	PFAM
Pfam:Pkinase_Tyr	247	457	4.2e-18	PFAM
Pfam:Pkinase_Tyr	511	585	7.8e-6	PFAM
Pfam:Pkinase	511	586	2.5e-11	PFAM
low complexity region	650	660	N/A	INTRINSIC
Pfam:Pkinase	681	922	6.2e-42	PFAM
Pfam:Pkinase_Tyr	706	920	9.3e-20	PFAM
Pfam:tRNA-synt_His	975	1302	3.8e-19	PFAM
Pfam:HGTP_anticodon2	1314	1569	5.4e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125281

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.5%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted(3) Gene trapped(4) Chemically induced(1)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	A	17: 79,935,585 (GRCm39)		probably benign	Het
Abca16	A	T	7: 120,143,939 (GRCm39)	K1651N	probably benign	Het
Abcb1b	T	C	5: 8,871,423 (GRCm39)	S326P	probably benign	Het
Ache	A	G	5: 137,288,635 (GRCm39)	T114A	probably benign	Het
Akap3	T	A	6: 126,843,775 (GRCm39)	V798D	probably damaging	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Aqp4	T	C	18: 15,531,302 (GRCm39)	N153S	probably benign	Het
Arhgap23	G	A	11: 97,354,414 (GRCm39)	V265M	probably damaging	Het
Arhgef25	A	T	10: 127,020,322 (GRCm39)	M326K	probably damaging	Het
Atp6v1c2	T	C	12: 17,334,961 (GRCm39)		probably benign	Het
Cars1	A	T	7: 143,142,219 (GRCm39)		probably benign	Het
Cep83	A	T	10: 94,555,593 (GRCm39)	M96L	probably benign	Het
Cfap46	A	G	7: 139,231,449 (GRCm39)		probably benign	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cul7	G	A	17: 46,974,670 (GRCm39)		probably null	Het
Dhrs2	G	A	14: 55,473,574 (GRCm39)	V78M	probably damaging	Het
Dhx38	A	T	8: 110,279,094 (GRCm39)	D1051E	probably benign	Het
Eftud2	A	G	11: 102,755,627 (GRCm39)		probably benign	Het
Egln3	T	C	12: 54,250,082 (GRCm39)	E89G	possibly damaging	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fsip2	A	T	2: 82,813,677 (GRCm39)	N3332I	possibly damaging	Het
Gbp2b	A	T	3: 142,312,550 (GRCm39)	E311V	probably damaging	Het
Gcnt2	G	T	13: 41,014,329 (GRCm39)	A167S	probably damaging	Het
Gm9797	A	T	10: 11,485,088 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,215 (GRCm39)		probably null	Het
Gpr22	T	C	12: 31,759,981 (GRCm39)	N47S	probably benign	Het
Il18rap	A	T	1: 40,588,202 (GRCm39)	H600L	possibly damaging	Het
Larp7	A	G	3: 127,340,737 (GRCm39)		probably null	Het
Mep1a	A	G	17: 43,789,841 (GRCm39)	Y490H	possibly damaging	Het
Mrgprh	T	A	17: 13,096,237 (GRCm39)	V159D	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nrbp1	T	A	5: 31,402,231 (GRCm39)	I64N	probably damaging	Het
Nup214	G	A	2: 31,894,312 (GRCm39)		probably null	Het
Or10d1b	A	G	9: 39,613,297 (GRCm39)	I256T	possibly damaging	Het
Or13a21	G	T	7: 139,998,856 (GRCm39)	L277M	probably damaging	Het
Or2o1	T	A	11: 49,051,071 (GRCm39)	C77S	probably benign	Het
Or4k15b	A	T	14: 50,272,743 (GRCm39)	L39Q	probably damaging	Het
Pef1	A	G	4: 130,021,180 (GRCm39)	T245A	probably damaging	Het
Phrf1	A	G	7: 140,838,217 (GRCm39)		probably benign	Het
Ppig	A	G	2: 69,573,942 (GRCm39)		probably benign	Het
Ppp1r8	G	T	4: 132,562,039 (GRCm39)	F60L	probably damaging	Het
Psmd11	G	A	11: 80,353,510 (GRCm39)		probably benign	Het
Ptk6	G	T	2: 180,840,315 (GRCm39)	H230Q	probably benign	Het
Ptprd	T	C	4: 75,863,226 (GRCm39)	Y1496C	probably damaging	Het
Rhbdl3	G	T	11: 80,244,457 (GRCm39)	W388L	probably damaging	Het
Rnf130	T	A	11: 49,962,109 (GRCm39)	M185K	probably benign	Het
S100a13	A	T	3: 90,423,299 (GRCm39)	I97F	probably damaging	Het
Slc22a16	T	G	10: 40,463,488 (GRCm39)		probably null	Het
Tcte1	A	T	17: 45,846,211 (GRCm39)	T272S	probably benign	Het
Terf1	T	C	1: 15,876,062 (GRCm39)	V54A	possibly damaging	Het
Tmem63a	T	A	1: 180,783,988 (GRCm39)	N189K	probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trim66	G	A	7: 109,059,383 (GRCm39)	Q954*	probably null	Het
Trpv4	A	G	5: 114,768,493 (GRCm39)	F525S	probably damaging	Het
Ttll7	A	G	3: 146,649,871 (GRCm39)	T634A	probably benign	Het
Tut7	T	C	13: 59,929,918 (GRCm39)	D47G	probably damaging	Het
Ush2a	T	G	1: 188,269,977 (GRCm39)	N1741K	possibly damaging	Het
Wdr87-ps	A	T	7: 29,231,636 (GRCm39)		noncoding transcript	Het
Zfp451	T	A	1: 33,816,810 (GRCm39)	H163L	probably damaging	Het

Other mutations in Eif2ak4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Eif2ak4	APN	2	118,294,536 (GRCm39)	missense	probably damaging	1.00
IGL00806:Eif2ak4	APN	2	118,271,647 (GRCm39)	missense	probably benign	0.08
IGL01343:Eif2ak4	APN	2	118,252,570 (GRCm39)	missense	probably benign	0.00
IGL01796:Eif2ak4	APN	2	118,276,785 (GRCm39)	missense	probably benign	0.10
IGL02263:Eif2ak4	APN	2	118,292,259 (GRCm39)	missense	probably benign	0.00
IGL02391:Eif2ak4	APN	2	118,251,272 (GRCm39)	missense	probably benign	0.19
IGL02516:Eif2ak4	APN	2	118,266,735 (GRCm39)	missense	probably damaging	1.00
IGL02603:Eif2ak4	APN	2	118,280,807 (GRCm39)	missense	probably damaging	1.00
IGL02731:Eif2ak4	APN	2	118,219,295 (GRCm39)	missense	probably benign
IGL02928:Eif2ak4	APN	2	118,303,168 (GRCm39)	critical splice donor site	probably null
IGL02947:Eif2ak4	APN	2	118,261,514 (GRCm39)	missense	probably benign	0.00
IGL03191:Eif2ak4	APN	2	118,252,693 (GRCm39)	missense	probably damaging	1.00
IGL03202:Eif2ak4	APN	2	118,231,101 (GRCm39)	missense	probably damaging	1.00
IGL03235:Eif2ak4	APN	2	118,273,621 (GRCm39)	missense	probably damaging	1.00
IGL03375:Eif2ak4	APN	2	118,252,799 (GRCm39)	missense	probably benign	0.08
absurdum	UTSW	2	118,251,291 (GRCm39)	nonsense	probably null
Ad	UTSW	2	118,266,722 (GRCm39)	missense	probably damaging	1.00
atchoum	UTSW	2	118,231,134 (GRCm39)	splice site	probably benign
reductio	UTSW	2	118,266,639 (GRCm39)	splice site	probably null
PIT4520001:Eif2ak4	UTSW	2	118,292,808 (GRCm39)	missense	probably damaging	1.00
R0023:Eif2ak4	UTSW	2	118,293,202 (GRCm39)	missense	probably damaging	1.00
R0482:Eif2ak4	UTSW	2	118,292,828 (GRCm39)	missense	probably damaging	1.00
R0505:Eif2ak4	UTSW	2	118,261,517 (GRCm39)	missense	probably benign	0.01
R0523:Eif2ak4	UTSW	2	118,272,577 (GRCm39)	critical splice donor site	probably null
R0578:Eif2ak4	UTSW	2	118,305,472 (GRCm39)	splice site	probably benign
R0615:Eif2ak4	UTSW	2	118,266,666 (GRCm39)	missense	probably damaging	1.00
R1300:Eif2ak4	UTSW	2	118,294,464 (GRCm39)	missense	possibly damaging	0.79
R1531:Eif2ak4	UTSW	2	118,273,691 (GRCm39)	missense	probably damaging	1.00
R1777:Eif2ak4	UTSW	2	118,261,320 (GRCm39)	missense	probably damaging	0.98
R1866:Eif2ak4	UTSW	2	118,303,142 (GRCm39)	missense	probably damaging	1.00
R1932:Eif2ak4	UTSW	2	118,278,967 (GRCm39)	missense	probably damaging	1.00
R1977:Eif2ak4	UTSW	2	118,292,238 (GRCm39)	nonsense	probably null
R2011:Eif2ak4	UTSW	2	118,261,428 (GRCm39)	missense	probably damaging	1.00
R2046:Eif2ak4	UTSW	2	118,281,889 (GRCm39)	splice site	probably benign
R2122:Eif2ak4	UTSW	2	118,286,274 (GRCm39)	missense	probably damaging	1.00
R2125:Eif2ak4	UTSW	2	118,252,604 (GRCm39)	missense	probably benign	0.02
R2126:Eif2ak4	UTSW	2	118,252,604 (GRCm39)	missense	probably benign	0.02
R2193:Eif2ak4	UTSW	2	118,252,747 (GRCm39)	missense	probably benign	0.12
R2259:Eif2ak4	UTSW	2	118,286,264 (GRCm39)	missense	probably damaging	0.97
R2513:Eif2ak4	UTSW	2	118,257,064 (GRCm39)	missense	probably damaging	1.00
R3798:Eif2ak4	UTSW	2	118,304,564 (GRCm39)	missense	probably damaging	1.00
R3898:Eif2ak4	UTSW	2	118,261,404 (GRCm39)	missense	probably damaging	1.00
R3900:Eif2ak4	UTSW	2	118,305,510 (GRCm39)	missense	probably damaging	1.00
R4375:Eif2ak4	UTSW	2	118,258,405 (GRCm39)	missense	probably damaging	1.00
R4423:Eif2ak4	UTSW	2	118,269,547 (GRCm39)	missense	probably benign	0.01
R4589:Eif2ak4	UTSW	2	118,247,819 (GRCm39)	missense	probably damaging	1.00
R4734:Eif2ak4	UTSW	2	118,252,568 (GRCm39)	missense	probably damaging	1.00
R5173:Eif2ak4	UTSW	2	118,238,841 (GRCm39)	missense	probably damaging	1.00
R5367:Eif2ak4	UTSW	2	118,266,639 (GRCm39)	splice site	probably null
R5471:Eif2ak4	UTSW	2	118,304,613 (GRCm39)	missense	probably benign	0.02
R5528:Eif2ak4	UTSW	2	118,258,419 (GRCm39)	missense	probably damaging	1.00
R5634:Eif2ak4	UTSW	2	118,292,792 (GRCm39)	missense	probably damaging	1.00
R5726:Eif2ak4	UTSW	2	118,273,613 (GRCm39)	missense	probably damaging	1.00
R5756:Eif2ak4	UTSW	2	118,293,221 (GRCm39)	missense	possibly damaging	0.95
R5779:Eif2ak4	UTSW	2	118,243,444 (GRCm39)	missense	possibly damaging	0.85
R5807:Eif2ak4	UTSW	2	118,219,332 (GRCm39)	missense	probably benign
R6045:Eif2ak4	UTSW	2	118,219,296 (GRCm39)	nonsense	probably null
R6187:Eif2ak4	UTSW	2	118,287,638 (GRCm39)	missense	probably damaging	0.98
R6193:Eif2ak4	UTSW	2	118,231,081 (GRCm39)	start gained	probably benign
R6468:Eif2ak4	UTSW	2	118,266,722 (GRCm39)	missense	probably damaging	1.00
R6555:Eif2ak4	UTSW	2	118,258,350 (GRCm39)	missense	probably damaging	0.96
R6616:Eif2ak4	UTSW	2	118,285,326 (GRCm39)	nonsense	probably null
R6737:Eif2ak4	UTSW	2	118,292,749 (GRCm39)	frame shift	probably null
R6956:Eif2ak4	UTSW	2	118,252,748 (GRCm39)	missense	probably damaging	0.96
R7075:Eif2ak4	UTSW	2	118,251,291 (GRCm39)	nonsense	probably null
R7109:Eif2ak4	UTSW	2	118,235,532 (GRCm39)	missense	probably damaging	1.00
R7228:Eif2ak4	UTSW	2	118,287,638 (GRCm39)	missense	probably damaging	0.98
R7441:Eif2ak4	UTSW	2	118,302,377 (GRCm39)	missense	probably benign	0.01
R7555:Eif2ak4	UTSW	2	118,247,764 (GRCm39)	missense	possibly damaging	0.64
R7567:Eif2ak4	UTSW	2	118,280,795 (GRCm39)	missense	probably benign
R8004:Eif2ak4	UTSW	2	118,247,775 (GRCm39)	missense	possibly damaging	0.64
R8063:Eif2ak4	UTSW	2	118,241,382 (GRCm39)	missense	possibly damaging	0.94
R8092:Eif2ak4	UTSW	2	118,272,513 (GRCm39)	missense	probably damaging	1.00
R8195:Eif2ak4	UTSW	2	118,280,819 (GRCm39)	missense	possibly damaging	0.50
R8306:Eif2ak4	UTSW	2	118,287,656 (GRCm39)	missense	possibly damaging	0.68
R8470:Eif2ak4	UTSW	2	118,293,207 (GRCm39)	missense	probably damaging	0.98
R8671:Eif2ak4	UTSW	2	118,252,667 (GRCm39)	missense	possibly damaging	0.88
R8693:Eif2ak4	UTSW	2	118,262,718 (GRCm39)	missense	probably damaging	0.98
R8714:Eif2ak4	UTSW	2	118,292,765 (GRCm39)	missense	possibly damaging	0.89
R8744:Eif2ak4	UTSW	2	118,261,474 (GRCm39)	nonsense	probably null
R8813:Eif2ak4	UTSW	2	118,278,806 (GRCm39)	missense	probably damaging	1.00
R8917:Eif2ak4	UTSW	2	118,287,617 (GRCm39)	missense	probably damaging	1.00
R8924:Eif2ak4	UTSW	2	118,258,513 (GRCm39)	missense	probably damaging	1.00
R9177:Eif2ak4	UTSW	2	118,271,701 (GRCm39)	critical splice donor site	probably null
R9189:Eif2ak4	UTSW	2	118,258,393 (GRCm39)	missense	probably damaging	1.00
R9231:Eif2ak4	UTSW	2	118,271,662 (GRCm39)	missense	probably benign	0.00
R9268:Eif2ak4	UTSW	2	118,271,701 (GRCm39)	critical splice donor site	probably null
R9321:Eif2ak4	UTSW	2	118,292,798 (GRCm39)	missense	possibly damaging	0.93
R9512:Eif2ak4	UTSW	2	118,293,196 (GRCm39)	missense	probably damaging	1.00
R9569:Eif2ak4	UTSW	2	118,251,316 (GRCm39)	missense	probably benign	0.00
R9658:Eif2ak4	UTSW	2	118,269,511 (GRCm39)	missense	probably damaging	1.00
R9748:Eif2ak4	UTSW	2	118,247,730 (GRCm39)	missense	probably benign	0.01
R9757:Eif2ak4	UTSW	2	118,269,398 (GRCm39)	missense	probably benign	0.02
R9766:Eif2ak4	UTSW	2	118,261,313 (GRCm39)	nonsense	probably null
X0061:Eif2ak4	UTSW	2	118,298,657 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-04