Incidental Mutation 'R6045:Eif2ak4'
ID 483749
Institutional Source Beutler Lab
Gene Symbol Eif2ak4
Ensembl Gene ENSMUSG00000005102
Gene Name eukaryotic translation initiation factor 2 alpha kinase 4
Synonyms GCN2
MMRRC Submission 044213-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6045 (G1)
Quality Score 162.009
Status Not validated
Chromosome 2
Chromosomal Location 118219099-118305715 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 118219296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 36 (S36*)
Ref Sequence ENSEMBL: ENSMUSP00000106501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005233] [ENSMUST00000102527] [ENSMUST00000110872] [ENSMUST00000110874] [ENSMUST00000110877]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000005233
AA Change: S36*
SMART Domains Protein: ENSMUSP00000005233
Gene: ENSMUSG00000005102
AA Change: S36*

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 benign
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 benign
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 benign
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 probably null
Transcript: ENSMUST00000110877
AA Change: S36*
SMART Domains Protein: ENSMUSP00000106501
Gene: ENSMUSG00000005102
AA Change: S36*

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 2.6e-23 PFAM
Pfam:Pkinase_Tyr 327 535 1.1e-18 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,955,996 (GRCm39) Y87C probably benign Het
5530401A14Rik A G 11: 81,784,694 (GRCm39) probably benign Het
Adamts5 T C 16: 85,696,188 (GRCm39) D323G probably damaging Het
Albfm1 A T 5: 90,732,848 (GRCm39) Q553L possibly damaging Het
Bicc1 G A 10: 70,792,911 (GRCm39) R248* probably null Het
Bivm T G 1: 44,158,233 (GRCm39) probably benign Het
Btnl12 G T 16: 37,676,384 (GRCm39) Q128K probably benign Het
Ccdc8 A C 7: 16,729,956 (GRCm39) T482P unknown Het
Ccnb2 T C 9: 70,326,375 (GRCm39) I21V probably benign Het
Cfap73 A T 5: 120,769,777 (GRCm39) I82N probably damaging Het
Chd3 A C 11: 69,242,944 (GRCm39) F1426V possibly damaging Het
Clcn2 A T 16: 20,530,438 (GRCm39) probably null Het
Col6a5 T C 9: 105,803,117 (GRCm39) N1283D unknown Het
Cyp39a1 G T 17: 44,042,882 (GRCm39) G411W probably damaging Het
D130052B06Rik A T 11: 33,574,008 (GRCm39) I202L unknown Het
Defa38 A T 8: 21,585,248 (GRCm39) C65S possibly damaging Het
Dlgap1 T C 17: 71,125,093 (GRCm39) L948P probably damaging Het
Dnah3 C T 7: 119,566,745 (GRCm39) V2494M probably damaging Het
Dysf T A 6: 84,091,054 (GRCm39) V1076D probably damaging Het
Elmod3 C T 6: 72,545,851 (GRCm39) R297H probably benign Het
Epas1 C A 17: 87,116,827 (GRCm39) R166S probably damaging Het
Erv3 A G 2: 131,697,942 (GRCm39) L139P probably damaging Het
Fryl A G 5: 73,275,894 (GRCm39) V90A probably damaging Het
Fxr2 A G 11: 69,541,877 (GRCm39) R439G possibly damaging Het
Gabrd A T 4: 155,470,931 (GRCm39) V259D possibly damaging Het
Galnt10 A G 11: 57,674,619 (GRCm39) Y536C probably damaging Het
Gbp10 A T 5: 105,366,269 (GRCm39) L545Q probably damaging Het
Gfpt1 A T 6: 87,062,239 (GRCm39) I517F probably damaging Het
Glb1 T C 9: 114,267,010 (GRCm39) Y225H probably damaging Het
Gm1110 C T 9: 26,794,505 (GRCm39) probably null Het
Gmps C T 3: 63,887,558 (GRCm39) P10L probably benign Het
Greb1l T A 18: 10,547,068 (GRCm39) V1465D probably damaging Het
Helz2 A G 2: 180,882,106 (GRCm39) V229A probably benign Het
Hipk1 A T 3: 103,654,218 (GRCm39) L924Q probably benign Het
Ifngr1 T G 10: 19,484,909 (GRCm39) L303V possibly damaging Het
Kif22 T C 7: 126,630,250 (GRCm39) N429D probably benign Het
Ktn1 T C 14: 47,914,253 (GRCm39) Y401H probably damaging Het
Lars2 T G 9: 123,201,053 (GRCm39) I39S probably damaging Het
Lipf C T 19: 33,944,244 (GRCm39) A151V probably damaging Het
Lrp1 A T 10: 127,402,469 (GRCm39) M2234K probably damaging Het
Lrp1b A G 2: 40,591,825 (GRCm39) V56A unknown Het
Lyar T A 5: 38,391,352 (GRCm39) H350Q probably benign Het
Mill2 A T 7: 18,590,489 (GRCm39) M190L probably benign Het
Morc3 A G 16: 93,671,733 (GRCm39) D921G probably damaging Het
Mpp2 G T 11: 101,950,180 (GRCm39) T558K probably benign Het
Myh4 A G 11: 67,135,550 (GRCm39) D379G probably benign Het
Neb A C 2: 52,084,437 (GRCm39) probably null Het
Nedd1 G A 10: 92,530,962 (GRCm39) R376* probably null Het
Nlrc4 T G 17: 74,753,954 (GRCm39) D143A probably damaging Het
Nol10 G T 12: 17,398,479 (GRCm39) probably benign Het
Opn1sw A G 6: 29,379,869 (GRCm39) S122P probably damaging Het
Or10j3b C T 1: 173,044,067 (GRCm39) T283I possibly damaging Het
Or4f14d T G 2: 111,960,881 (GRCm39) I92L possibly damaging Het
Or52h7 C T 7: 104,213,974 (GRCm39) T182I probably benign Het
Or5an9 C A 19: 12,187,659 (GRCm39) A243D probably damaging Het
Or5h27 T A 16: 59,006,454 (GRCm39) T131S probably benign Het
Orm1 T A 4: 63,262,929 (GRCm39) I32N possibly damaging Het
Pcdhb5 T A 18: 37,454,628 (GRCm39) V336E probably damaging Het
Poli C T 18: 70,650,540 (GRCm39) R363K possibly damaging Het
Rabgap1l T C 1: 160,472,893 (GRCm39) E515G probably benign Het
Rem2 C A 14: 54,715,225 (GRCm39) T134N probably damaging Het
Rfc1 A G 5: 65,436,892 (GRCm39) I596T probably damaging Het
Ruvbl2 A T 7: 45,074,433 (GRCm39) I202N probably damaging Het
S100a6 T A 3: 90,521,186 (GRCm39) I38N probably damaging Het
Scel T C 14: 103,829,649 (GRCm39) C435R probably benign Het
Slc6a13 T A 6: 121,298,587 (GRCm39) W146R probably damaging Het
Sorcs1 T A 19: 50,178,555 (GRCm39) K856* probably null Het
Speer4e1 T G 5: 14,987,195 (GRCm39) K70T possibly damaging Het
Sucla2 T A 14: 73,806,404 (GRCm39) C158* probably null Het
Tie1 G A 4: 118,341,888 (GRCm39) S187L probably benign Het
Tmem200a T C 10: 25,868,905 (GRCm39) T455A probably damaging Het
Tra2a A G 6: 49,229,398 (GRCm39) probably benign Het
Tsnaxip1 A C 8: 106,570,819 (GRCm39) E615A probably benign Het
Tuba3b T A 6: 145,566,900 (GRCm39) N380K probably damaging Het
Umod C T 7: 119,076,046 (GRCm39) S240N probably benign Het
Vmn2r92 G A 17: 18,388,305 (GRCm39) probably null Het
Vps13b A G 15: 35,671,462 (GRCm39) E1655G probably damaging Het
Vwde A T 6: 13,219,935 (GRCm39) I72N probably damaging Het
Wbp11 G A 6: 136,798,533 (GRCm39) A172V probably damaging Het
Zbtb41 T A 1: 139,351,770 (GRCm39) N294K probably benign Het
Zfhx4 T A 3: 5,462,019 (GRCm39) H1206Q 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
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 PCR Primer
(F):5'- CTAGACCTGTCATCAGCTCG -3'
(R):5'- TGCCTTCTCAAGACCAGTGG -3'

Posted On 2017-07-14