Incidental Mutation 'R6737:Eif2ak4'
ID 530217
Institutional Source Beutler Lab
Gene Symbol Eif2ak4
Ensembl Gene ENSMUSG00000005102
Gene Name eukaryotic translation initiation factor 2 alpha kinase 4
Synonyms GCN2
MMRRC Submission 044855-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6737 (G1)
Quality Score 201.468
Status Not validated
Chromosome 2
Chromosomal Location 118219099-118305715 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TGG to TG at 118292749 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,456 (GRCm39) R114G probably damaging Het
Atm A T 9: 53,397,351 (GRCm39) S1661T probably benign Het
Castor1 A G 11: 4,171,685 (GRCm39) D303G probably damaging Het
Cd69 C T 6: 129,245,262 (GRCm39) A188T probably benign Het
Cecr2 G T 6: 120,714,084 (GRCm39) L225F possibly damaging Het
Cep295 A G 9: 15,243,647 (GRCm39) V1603A possibly damaging Het
Clec4g T C 8: 3,757,716 (GRCm39) probably benign Het
Clptm1 A T 7: 19,371,001 (GRCm39) probably null Het
Crybg2 G T 4: 133,800,001 (GRCm39) G387V probably damaging Het
Ctcf T A 8: 106,391,140 (GRCm39) M249K probably benign Het
Ctnnd2 C A 15: 30,966,980 (GRCm39) S952* probably null Het
Cxcr2 T C 1: 74,197,790 (GRCm39) F95L probably benign Het
Ddx55 C A 5: 124,691,008 (GRCm39) T5K probably damaging Het
Depp1 G T 6: 116,629,058 (GRCm39) V134L possibly damaging Het
Eif2ak2 T C 17: 79,171,377 (GRCm39) N342S probably benign Het
Epb41l2 C G 10: 25,364,916 (GRCm39) probably null Het
Fam234b A G 6: 135,205,513 (GRCm39) K493E probably damaging Het
Fndc7 C A 3: 108,779,594 (GRCm39) V317L probably damaging Het
Fpr-rs6 T C 17: 20,403,339 (GRCm39) I7M probably benign Het
Gal3st1 T A 11: 3,948,903 (GRCm39) I370N probably benign Het
Glo1 C T 17: 30,816,814 (GRCm39) S114N probably benign Het
Grik1 T C 16: 87,848,279 (GRCm39) D163G probably damaging Het
Grxcr1 T C 5: 68,267,835 (GRCm39) C195R probably damaging Het
Hdac9 T C 12: 34,265,451 (GRCm39) N806S probably damaging Het
Igfn1 T C 1: 135,897,605 (GRCm39) N987S probably benign Het
Klhl29 G T 12: 5,260,124 (GRCm39) S31R possibly damaging Het
Lama4 C T 10: 38,970,907 (GRCm39) R1491C probably damaging Het
Lmtk3 T C 7: 45,443,051 (GRCm39) L578P probably damaging Het
Lrrk2 A C 15: 91,607,421 (GRCm39) M595L possibly damaging Het
Mmp27 A T 9: 7,571,955 (GRCm39) N52Y possibly damaging Het
Mrc1 C T 2: 14,276,088 (GRCm39) A474V possibly damaging Het
Msl1 A G 11: 98,694,908 (GRCm39) H134R probably damaging Het
Muc5b T C 7: 141,411,236 (GRCm39) M1394T unknown Het
Myof G A 19: 37,931,962 (GRCm39) T968I probably benign Het
Nat8f2 A T 6: 85,845,194 (GRCm39) M56K probably benign Het
Ncoa5 C T 2: 164,844,055 (GRCm39) G116D probably damaging Het
Ndst2 A G 14: 20,777,562 (GRCm39) L494P probably damaging Het
Nfatc3 T A 8: 106,810,601 (GRCm39) V459E probably damaging Het
Nup133 A T 8: 124,633,030 (GRCm39) Y1034N probably damaging Het
Nup153 A T 13: 46,842,682 (GRCm39) S829T probably benign Het
Or3a1b A G 11: 74,012,732 (GRCm39) S206G probably benign Het
Or4f47 T C 2: 111,972,548 (GRCm39) F86S probably damaging Het
Or52a24 C T 7: 103,381,357 (GRCm39) L75F probably damaging Het
Or5ac19 A G 16: 59,089,175 (GRCm39) L285P possibly damaging Het
Pcdh18 C A 3: 49,710,344 (GRCm39) V324F probably damaging Het
Pcdhb5 T A 18: 37,455,723 (GRCm39) L701H probably damaging Het
Plau T G 14: 20,887,884 (GRCm39) Y43D probably damaging Het
Pld5 T A 1: 175,917,588 (GRCm39) N53I probably damaging Het
Pon2 T A 6: 5,266,183 (GRCm39) I279F probably benign Het
Prep A T 10: 44,973,591 (GRCm39) K233I possibly damaging Het
Rap1b T C 10: 117,658,713 (GRCm39) Y40C probably damaging Het
Ric8a T C 7: 140,438,789 (GRCm39) probably null Het
Rnf19b T C 4: 128,979,344 (GRCm39) probably benign Het
Rpl9-ps6 A C 19: 32,443,727 (GRCm39) S75R probably damaging Het
Sh3bp2 A G 5: 34,719,818 (GRCm39) Y609C probably damaging Het
Skint5 T C 4: 113,392,936 (GRCm39) N1232S unknown Het
Slc28a1 T G 7: 80,818,996 (GRCm39) V615G probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx13 T G 12: 35,190,185 (GRCm39) N845K probably damaging Het
Srms T C 2: 180,851,253 (GRCm39) Y171C probably damaging Het
Supt6 A G 11: 78,122,644 (GRCm39) L193P probably damaging Het
Syt7 G A 19: 10,421,408 (GRCm39) V531M probably damaging Het
Tmem255b T C 8: 13,507,096 (GRCm39) probably null Het
Tnik A T 3: 28,650,235 (GRCm39) K449N possibly damaging Het
Trim29 A T 9: 43,230,681 (GRCm39) D288V probably benign Het
Ttc13 T A 8: 125,408,900 (GRCm39) probably null Het
Uchl3 A T 14: 101,928,033 (GRCm39) D167V probably damaging Het
Ugt3a1 T C 15: 9,311,895 (GRCm39) V379A probably benign Het
Vps13b A G 15: 35,910,757 (GRCm39) D3507G probably damaging Het
Wfdc2 A T 2: 164,405,362 (GRCm39) K88* probably null Het
Ylpm1 C A 12: 85,077,620 (GRCm39) H1448Q probably damaging Het
Zc3h14 A G 12: 98,751,305 (GRCm39) K667E probably damaging Het
Other mutations in Eif2ak4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 PCR Primer
(F):5'- TACTGTCAGAGCTTGGAGGG -3'
(R):5'- TGCTACAGGGATCCCATAGG -3'

Sequencing Primer
(F):5'- AGGGTTTCTGTAAACAGTTCTTGCC -3'
(R):5'- AACTTTTTGCATCATGGCAGG -3'
Posted On 2018-08-01