Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02928:Eif2ak4'

363992

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif2ak4

Ensembl Gene

ENSMUSG00000005102

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 4

Synonyms

GCN2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02928

Quality Score

Status

Chromosome

Chromosomal Location

118219099-118305715 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 118303168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005233] [ENSMUST00000009693] [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 benign
Transcript: ENSMUST00000009693

SMART Domains

Protein: ENSMUSP00000009693
Gene: ENSMUSG00000009549

Domain	Start	End	E-Value	Type
Pfam:SRP14	4	94	5.5e-31	PFAM
low complexity region	95	107	N/A	INTRINSIC

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: ENSMUST00000138189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149615

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,980,327 (GRCm39)	Y92C	probably damaging	Het
Aadacl4fm1	A	T	4: 144,255,802 (GRCm39)	L407F	possibly damaging	Het
Abcc3	G	T	11: 94,252,132 (GRCm39)	T817K	possibly damaging	Het
Arhgap10	G	A	8: 77,977,539 (GRCm39)		probably benign	Het
Arhgef16	G	T	4: 154,367,350 (GRCm39)	Q352K	probably benign	Het
Cep104	A	G	4: 154,065,716 (GRCm39)	I68V	probably benign	Het
Col5a2	G	A	1: 45,424,180 (GRCm39)	A1082V	probably benign	Het
Col6a1	A	T	10: 76,545,500 (GRCm39)	Y991N	possibly damaging	Het
Ehmt2	T	C	17: 35,129,798 (GRCm39)	I1021T	probably damaging	Het
Ern1	A	G	11: 106,296,705 (GRCm39)		probably benign	Het
Fgf18	A	T	11: 33,074,674 (GRCm39)	I99N	possibly damaging	Het
Glp1r	A	G	17: 31,137,911 (GRCm39)	D114G	probably benign	Het
Gm10553	A	G	1: 85,077,933 (GRCm39)	K17E	possibly damaging	Het
Gm5422	T	A	10: 31,126,250 (GRCm39)		noncoding transcript	Het
Gnb1	A	C	4: 155,637,863 (GRCm39)	T196P	probably benign	Het
Ighv6-5	T	A	12: 114,380,412 (GRCm39)	D35V	probably benign	Het
Il18r1	G	A	1: 40,517,711 (GRCm39)		probably null	Het
Ipo11	A	T	13: 107,025,863 (GRCm39)		probably benign	Het
Itih1	T	A	14: 30,659,715 (GRCm39)	Q307L	probably damaging	Het
Mmp1b	T	A	9: 7,368,242 (GRCm39)	*464L	probably null	Het
Mrps7	C	T	11: 115,495,910 (GRCm39)	Q113*	probably null	Het
Npat	A	C	9: 53,478,138 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,854,605 (GRCm39)	I852V	probably damaging	Het
Or10ak14	A	G	4: 118,611,697 (GRCm39)	F15L	probably damaging	Het
Or5ae2	A	G	7: 84,506,273 (GRCm39)	E232G	probably benign	Het
P2rx6	T	A	16: 17,382,901 (GRCm39)		probably benign	Het
Parp6	T	A	9: 59,548,346 (GRCm39)	N466K	possibly damaging	Het
Prss12	A	T	3: 123,280,805 (GRCm39)	N497Y	possibly damaging	Het
Psg22	T	C	7: 18,453,458 (GRCm39)	V51A	probably damaging	Het
Ptgir	T	C	7: 16,642,923 (GRCm39)	S175P	possibly damaging	Het
Rd3l	T	C	12: 111,946,012 (GRCm39)	S156G	probably benign	Het
Reck	C	T	4: 43,912,078 (GRCm39)	H196Y	possibly damaging	Het
Rft1	T	A	14: 30,385,072 (GRCm39)	V165D	possibly damaging	Het
Rin2	A	G	2: 145,701,926 (GRCm39)		probably benign	Het
Rufy4	A	G	1: 74,168,241 (GRCm39)		probably benign	Het
Scfd2	G	A	5: 74,691,832 (GRCm39)	T150M	probably damaging	Het
Sgca	A	G	11: 94,863,129 (GRCm39)	W75R	probably damaging	Het
Sirt7	A	T	11: 120,511,042 (GRCm39)	D318E	probably benign	Het
Smr2l	A	T	5: 88,424,976 (GRCm39)	I14L	probably benign	Het
Snta1	C	T	2: 154,222,959 (GRCm39)	A255T	probably benign	Het
Stxbp2	A	G	8: 3,691,736 (GRCm39)	D485G	probably damaging	Het
Sycp1	T	A	3: 102,726,134 (GRCm39)		probably benign	Het
Tenm2	A	G	11: 35,917,997 (GRCm39)	V1922A	possibly damaging	Het
Ttc7b	A	T	12: 100,369,674 (GRCm39)	V365D	probably damaging	Het
Upk3b	A	G	5: 136,067,995 (GRCm39)	E62G	probably benign	Het
Wdr36	T	C	18: 32,980,372 (GRCm39)		probably null	Het
Yars2	T	C	16: 16,121,410 (GRCm39)	F188S	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
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
R0358:Eif2ak4	UTSW	2	118,294,410 (GRCm39)	splice site	probably null
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

Posted On

2015-12-18