Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02516:Eif2ak4'

296788

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

MGI: 1353427

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

118388618-118475234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118436254 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 752 (I752N)

Ref Sequence

ENSEMBL: ENSMUSP00000106498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005233] [ENSMUST00000102527] [ENSMUST00000110869] [ENSMUST00000110870] [ENSMUST00000110872] [ENSMUST00000110874]

Predicted Effect

probably damaging
Transcript: ENSMUST00000005233
AA Change: I830N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005233
Gene: ENSMUSG00000005102
AA Change: I830N

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 damaging
Transcript: ENSMUST00000102527
AA Change: I718N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099586
Gene: ENSMUSG00000005102
AA Change: I718N

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 benign
Transcript: ENSMUST00000110869

SMART Domains

Protein: ENSMUSP00000106493
Gene: ENSMUSG00000005102

Domain	Start	End	E-Value	Type
Pfam:Pkinase	15	199	2.3e-32	PFAM
Pfam:Pkinase_Tyr	16	198	3.1e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110870
AA Change: I552N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106494
Gene: ENSMUSG00000005102
AA Change: I552N

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 damaging
Transcript: ENSMUST00000110872
AA Change: I709N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106496
Gene: ENSMUSG00000005102
AA Change: I709N

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 damaging
Transcript: ENSMUST00000110874
AA Change: I752N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106498
Gene: ENSMUSG00000005102
AA Change: I752N

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 24,898,596	S364N	probably damaging	Het
AI314180	T	C	4: 58,877,102	E111G	probably damaging	Het
Ano8	C	T	8: 71,485,077	G47D	probably damaging	Het
App	T	C	16: 84,955,417	T743A	probably damaging	Het
Armc3	A	G	2: 19,300,506	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,185,661	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,600,629	V297I	probably damaging	Het
Bpi	A	G	2: 158,267,731	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,271,870		probably benign	Het
Cbarp	A	G	10: 80,135,545	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,274,901	N78S	unknown	Het
Cdcp1	G	T	9: 123,173,637	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,289,143	I111F	probably benign	Het
Ctsr	A	G	13: 61,163,178	V18A	probably benign	Het
Dapk1	A	G	13: 60,696,347	D60G	probably damaging	Het
Daw1	A	C	1: 83,209,228	N253T	probably benign	Het
Dcaf7	T	A	11: 106,051,872	I215N	probably damaging	Het
Ddc	A	C	11: 11,829,125	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,852,394		probably null	Het
Dnah10	C	A	5: 124,787,331	T2200K	probably damaging	Het
Dock6	T	C	9: 21,802,585	Y1883C	probably damaging	Het
Fcho2	A	G	13: 98,730,212	I740T	probably benign	Het
Flnc	A	G	6: 29,450,841	D1496G	probably damaging	Het
Fn1	A	G	1: 71,637,323	V583A	possibly damaging	Het
Grasp	G	A	15: 101,229,051	V137I	probably damaging	Het
Greb1l	A	C	18: 10,537,064	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,758,131	L195P	probably damaging	Het
Hyi	A	G	4: 118,362,483	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,611,198	Y112*	probably null	Het
Ints3	A	G	3: 90,403,108	F495S	probably damaging	Het
Itih2	T	A	2: 10,097,917	H802L	probably benign	Het
Jag2	C	T	12: 112,910,566	V990M	probably damaging	Het
Kat6b	T	C	14: 21,609,868		probably benign	Het
Krtap4-8	C	T	11: 99,780,342		probably benign	Het
Lhx4	A	G	1: 155,702,257	S380P	probably damaging	Het
Morn3	C	A	5: 123,037,300	E33*	probably null	Het
Mug2	C	T	6: 122,070,843	A771V	probably damaging	Het
N4bp3	A	T	11: 51,644,334	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,114,460	N643S	probably damaging	Het
Olfr15	A	C	16: 3,839,336	D121A	probably damaging	Het
Olfr767	T	A	10: 129,079,793	M57L	possibly damaging	Het
Olfr93	T	A	17: 37,151,272	R79S	possibly damaging	Het
Phc3	A	G	3: 30,948,793	F192S	probably damaging	Het
Pigq	C	T	17: 25,937,247	R69H	probably benign	Het
Plk3	A	G	4: 117,131,989	C222R	probably damaging	Het
Pomt2	T	C	12: 87,119,646	T490A	probably benign	Het
Prss29	T	C	17: 25,320,901	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,465,815		probably benign	Het
Sccpdh	G	A	1: 179,681,691	G75D	probably damaging	Het
Serpine2	T	C	1: 79,794,997		probably benign	Het
Sfr1	T	G	19: 47,732,990		probably null	Het
Slc22a23	C	A	13: 34,203,955	C386F	probably benign	Het
Slc22a27	T	C	19: 7,864,811	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,400,335	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,691,393	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,577,875	N668D	probably damaging	Het
Supt16	A	T	14: 52,183,964	D41E	possibly damaging	Het
Ugt2b37	A	G	5: 87,240,882	S491P	probably damaging	Het
Urb1	G	T	16: 90,772,695	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,742,174	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,179,540	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798	Y529N	probably damaging	Het
Zfp541	T	A	7: 16,082,993		probably null	Het

Other mutations in Eif2ak4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Eif2ak4	APN	2	118464055	missense	probably damaging	1.00
IGL00806:Eif2ak4	APN	2	118441166	missense	probably benign	0.08
IGL01343:Eif2ak4	APN	2	118422089	missense	probably benign	0.00
IGL01796:Eif2ak4	APN	2	118446304	missense	probably benign	0.10
IGL02263:Eif2ak4	APN	2	118461778	missense	probably benign	0.00
IGL02391:Eif2ak4	APN	2	118420791	missense	probably benign	0.19
IGL02603:Eif2ak4	APN	2	118450326	missense	probably damaging	1.00
IGL02731:Eif2ak4	APN	2	118388814	missense	probably benign
IGL02928:Eif2ak4	APN	2	118472687	critical splice donor site	probably null
IGL02947:Eif2ak4	APN	2	118431033	missense	probably benign	0.00
IGL03191:Eif2ak4	APN	2	118422212	missense	probably damaging	1.00
IGL03202:Eif2ak4	APN	2	118400620	missense	probably damaging	1.00
IGL03235:Eif2ak4	APN	2	118443140	missense	probably damaging	1.00
IGL03375:Eif2ak4	APN	2	118422318	missense	probably benign	0.08
absurdum	UTSW	2	118420810	nonsense	probably null
Ad	UTSW	2	118436241	missense	probably damaging	1.00
atchoum	UTSW	2	118400653	splice site	probably benign
reductio	UTSW	2	118436158	splice site	probably null
PIT4520001:Eif2ak4	UTSW	2	118462327	missense	probably damaging	1.00
R0023:Eif2ak4	UTSW	2	118462721	missense	probably damaging	1.00
R0358:Eif2ak4	UTSW	2	118463929	intron	probably null
R0482:Eif2ak4	UTSW	2	118462347	missense	probably damaging	1.00
R0505:Eif2ak4	UTSW	2	118431036	missense	probably benign	0.01
R0523:Eif2ak4	UTSW	2	118442096	critical splice donor site	probably null
R0578:Eif2ak4	UTSW	2	118474991	splice site	probably benign
R0615:Eif2ak4	UTSW	2	118436185	missense	probably damaging	1.00
R1300:Eif2ak4	UTSW	2	118463983	missense	possibly damaging	0.79
R1531:Eif2ak4	UTSW	2	118443210	missense	probably damaging	1.00
R1777:Eif2ak4	UTSW	2	118430839	missense	probably damaging	0.98
R1866:Eif2ak4	UTSW	2	118472661	missense	probably damaging	1.00
R1932:Eif2ak4	UTSW	2	118448486	missense	probably damaging	1.00
R1977:Eif2ak4	UTSW	2	118461757	nonsense	probably null
R2011:Eif2ak4	UTSW	2	118430947	missense	probably damaging	1.00
R2046:Eif2ak4	UTSW	2	118451408	splice site	probably benign
R2122:Eif2ak4	UTSW	2	118455793	missense	probably damaging	1.00
R2125:Eif2ak4	UTSW	2	118422123	missense	probably benign	0.02
R2126:Eif2ak4	UTSW	2	118422123	missense	probably benign	0.02
R2193:Eif2ak4	UTSW	2	118422266	missense	probably benign	0.12
R2259:Eif2ak4	UTSW	2	118455783	missense	probably damaging	0.97
R2513:Eif2ak4	UTSW	2	118426583	missense	probably damaging	1.00
R3798:Eif2ak4	UTSW	2	118474083	missense	probably damaging	1.00
R3898:Eif2ak4	UTSW	2	118430923	missense	probably damaging	1.00
R3900:Eif2ak4	UTSW	2	118475029	missense	probably damaging	1.00
R4375:Eif2ak4	UTSW	2	118427924	missense	probably damaging	1.00
R4423:Eif2ak4	UTSW	2	118439066	missense	probably benign	0.01
R4589:Eif2ak4	UTSW	2	118417338	missense	probably damaging	1.00
R4734:Eif2ak4	UTSW	2	118422087	missense	probably damaging	1.00
R5173:Eif2ak4	UTSW	2	118408360	missense	probably damaging	1.00
R5367:Eif2ak4	UTSW	2	118436158	splice site	probably null
R5471:Eif2ak4	UTSW	2	118474132	missense	probably benign	0.02
R5528:Eif2ak4	UTSW	2	118427938	missense	probably damaging	1.00
R5634:Eif2ak4	UTSW	2	118462311	missense	probably damaging	1.00
R5726:Eif2ak4	UTSW	2	118443132	missense	probably damaging	1.00
R5756:Eif2ak4	UTSW	2	118462740	missense	possibly damaging	0.95
R5779:Eif2ak4	UTSW	2	118412963	missense	possibly damaging	0.85
R5807:Eif2ak4	UTSW	2	118388851	missense	probably benign
R6045:Eif2ak4	UTSW	2	118388815	nonsense	probably null
R6187:Eif2ak4	UTSW	2	118457157	missense	probably damaging	0.98
R6193:Eif2ak4	UTSW	2	118400600	start gained	probably benign
R6468:Eif2ak4	UTSW	2	118436241	missense	probably damaging	1.00
R6555:Eif2ak4	UTSW	2	118427869	missense	probably damaging	0.96
R6616:Eif2ak4	UTSW	2	118454845	nonsense	probably null
R6737:Eif2ak4	UTSW	2	118462268	frame shift	probably null
R6956:Eif2ak4	UTSW	2	118422267	missense	probably damaging	0.96
R7075:Eif2ak4	UTSW	2	118420810	nonsense	probably null
R7109:Eif2ak4	UTSW	2	118405051	missense	probably damaging	1.00
R7228:Eif2ak4	UTSW	2	118457157	missense	probably damaging	0.98
R7441:Eif2ak4	UTSW	2	118471896	missense	probably benign	0.01
R7555:Eif2ak4	UTSW	2	118417283	missense	possibly damaging	0.64
R7567:Eif2ak4	UTSW	2	118450314	missense	probably benign
X0061:Eif2ak4	UTSW	2	118468176	missense	probably damaging	1.00

Posted On

2015-04-16