Mutagenetix > Incidental Mutations

Incidental Mutation 'R6193:Eif2ak4'

502692

Institutional Source

Beutler Lab

Gene Symbol

Eif2ak4

Ensembl Gene

ENSMUSG00000005102

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 4

Synonyms

GCN2

MMRRC Submission

044333-MU

Accession Numbers

MGI: 1353427

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6193 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118388618-118475234 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 118400600 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005233] [ENSMUST00000102527] [ENSMUST00000110872] [ENSMUST00000110874] [ENSMUST00000110877]

Predicted Effect

silent
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: 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 benign
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 benign
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

silent
Transcript: ENSMUST00000110877

SMART Domains

Protein: ENSMUSP00000106501
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	2.6e-23	PFAM
Pfam:Pkinase_Tyr	327	535	1.1e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	G	15: 60,920,780	I106T	probably benign	Het
Aagab	A	C	9: 63,617,513	N35H	possibly damaging	Het
Abcf1	A	C	17: 35,963,572	N161K	possibly damaging	Het
Adam11	T	A	11: 102,771,261	H140Q	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef26	A	T	3: 62,339,792	D99V	possibly damaging	Het
Arhgef28	A	G	13: 97,985,380	S559P	probably damaging	Het
C130060K24Rik	T	A	6: 65,456,158	F321I	probably damaging	Het
Capn11	A	G	17: 45,653,504		probably null	Het
Ccdc157	T	C	11: 4,151,912	H3R	probably damaging	Het
Cd101	A	G	3: 101,020,462	L101P	probably damaging	Het
Clca3a1	A	G	3: 144,759,232	V80A	possibly damaging	Het
Cnot6	T	A	11: 49,680,023	I381F	probably benign	Het
Cntn3	T	A	6: 102,208,131	I675F	probably benign	Het
Cplx2	C	T	13: 54,379,593	P97S	probably damaging	Het
Crtac1	T	A	19: 42,323,797	E159V	possibly damaging	Het
Cyp27a1	A	G	1: 74,737,072	I416V	probably benign	Het
Cyp2d37-ps	T	C	15: 82,689,813		noncoding transcript	Het
Cyp2d9	A	G	15: 82,452,527	T26A	probably benign	Het
Cyp2j7	T	A	4: 96,195,203	R503S	probably damaging	Het
Dclk1	A	T	3: 55,516,871		probably null	Het
Dgkq	A	T	5: 108,655,500	C231*	probably null	Het
Dync1i1	T	A	6: 5,730,679	M38K	probably benign	Het
Ephx2	A	T	14: 66,089,512	D411E	probably benign	Het
Ephx2	T	G	14: 66,112,220	Q34P	probably benign	Het
Fam192a	A	G	8: 94,575,720	S228P	probably damaging	Het
Fer1l5	A	T	1: 36,409,436	N1092Y	probably benign	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fzd4	A	T	7: 89,407,989	K415*	probably null	Het
Gfi1	A	T	5: 107,721,531	Y278N	probably benign	Het
Gm11565	T	C	11: 99,915,244	M154T	probably benign	Het
Gm14548	C	G	7: 3,898,050		probably null	Het
Gm7247	A	G	14: 51,521,842	I93V	possibly damaging	Het
Golm1	T	G	13: 59,645,158	I178L	probably benign	Het
Grip1	A	T	10: 120,038,314	D302V	probably damaging	Het
Gtf2h1	G	A	7: 46,806,830		probably null	Het
Herc2	C	A	7: 56,156,901	P2372T	probably damaging	Het
Ighv1-59	C	A	12: 115,335,166	L89F	probably damaging	Het
Ighv7-4	G	A	12: 114,222,825	A109V	possibly damaging	Het
Kcnk10	G	T	12: 98,440,772	Q222K	probably benign	Het
Klra6	A	T	6: 130,018,918	M159K	probably benign	Het
Lzts3	T	C	2: 130,637,386	T36A	probably damaging	Het
Mgam	T	A	6: 40,747,920	Y443*	probably null	Het
Mmp23	T	A	4: 155,651,533	M221L	possibly damaging	Het
Mmp7	T	A	9: 7,695,518	V132E	probably damaging	Het
Npas2	C	A	1: 39,292,762	T86N	probably damaging	Het
Olfr1043	C	T	2: 86,162,284	V222M	possibly damaging	Het
Olfr392	T	A	11: 73,814,824	H86L	probably benign	Het
Papola	A	T	12: 105,820,346	E103V	probably benign	Het
Parp9	A	T	16: 35,947,551	N34Y	possibly damaging	Het
Pcdh7	A	G	5: 57,720,324	D407G	probably damaging	Het
Pcdhb5	T	G	18: 37,322,027	Y487D	probably damaging	Het
Pla2g4a	T	C	1: 149,902,430	D5G	probably damaging	Het
Plxnb1	T	C	9: 109,104,903	L733P	probably benign	Het
Ppfia4	T	C	1: 134,324,161	D425G	probably benign	Het
Prss2	T	G	6: 41,521,820	I6S	unknown	Het
Qrich2	T	A	11: 116,454,153	I1693L	probably benign	Het
Rad52	T	C	6: 119,920,182	V324A	probably benign	Het
Rapgef2	A	T	3: 79,069,444	Y1352N	possibly damaging	Het
Rsad2	T	G	12: 26,456,187	Y78S	probably damaging	Het
Scaf1	A	G	7: 45,006,780		probably benign	Het
Sfxn5	T	C	6: 85,269,936	T131A	probably damaging	Het
Slc4a10	T	G	2: 62,243,357		probably null	Het
Syt1	A	G	10: 108,500,736	V357A	probably benign	Het
Tenm2	T	A	11: 36,046,794	D1685V	probably damaging	Het
Thegl	A	G	5: 77,016,336	D62G	possibly damaging	Het
Tmc3	A	G	7: 83,603,335	T315A	probably benign	Het
Tmem266	T	C	9: 55,437,209	L375P	probably benign	Het
Tsks	T	G	7: 44,953,839	L355R	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Ube2f	T	A	1: 91,275,319		probably null	Het
Usp37	A	T	1: 74,492,928	V102D	probably damaging	Het
Usp44	G	A	10: 93,847,148		probably benign	Het
Vmn2r115	T	C	17: 23,357,009	F527S	probably benign	Het
Zfp101	A	C	17: 33,381,746	Y345*	probably null	Het
Zfp160	C	A	17: 21,026,862	A558E	probably benign	Het
Zfp236	T	C	18: 82,604,247	E1686G	probably damaging	Het
Zfp655	T	A	5: 145,244,776	D481E	probably benign	Het
Zswim4	A	G	8: 84,226,145	V396A	probably benign	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
IGL02516:Eif2ak4	APN	2	118436254	missense	probably damaging	1.00
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
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
R8004:Eif2ak4	UTSW	2	118417294	missense	possibly damaging	0.64
R8063:Eif2ak4	UTSW	2	118410901	missense	possibly damaging	0.94
X0061:Eif2ak4	UTSW	2	118468176	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-02-27