Incidental Mutation 'IGL02391:Eif2ak4'
ID 293851
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 # IGL02391
Quality Score
Status
Chromosome 2
Chromosomal Location 118219099-118305715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118251272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 199 (H199Q)
Ref Sequence ENSEMBL: ENSMUSP00000099586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005233] [ENSMUST00000102527] [ENSMUST00000110870] [ENSMUST00000110872] [ENSMUST00000110874] [ENSMUST00000110877]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005233
AA Change: H311Q

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000005233
Gene: ENSMUSG00000005102
AA Change: H311Q

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
AA Change: H199Q

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099586
Gene: ENSMUSG00000005102
AA Change: H199Q

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: ENSMUST00000110870
AA Change: H33Q

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106494
Gene: ENSMUSG00000005102
AA Change: H33Q

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 benign
Transcript: ENSMUST00000110872
AA Change: H190Q

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106496
Gene: ENSMUSG00000005102
AA Change: H190Q

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
AA Change: H233Q

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106498
Gene: ENSMUSG00000005102
AA Change: H233Q

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 benign
Transcript: ENSMUST00000110877
AA Change: H311Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106501
Gene: ENSMUSG00000005102
AA Change: H311Q

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,790,764 (GRCm39) N748Y probably damaging Het
Actbl2 A G 13: 111,391,701 (GRCm39) D12G possibly damaging Het
Adamts10 T C 17: 33,747,785 (GRCm39) S74P probably benign Het
Adprs C T 4: 126,211,701 (GRCm39) probably benign Het
Amn1 A G 6: 149,070,944 (GRCm39) probably null Het
Antxr1 A T 6: 87,264,038 (GRCm39) I144N probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cabp5 A T 7: 13,132,269 (GRCm39) R13* probably null Het
Cacna1e A G 1: 154,296,859 (GRCm39) Y1669H probably damaging Het
Ccdc174 A G 6: 91,875,263 (GRCm39) E364G possibly damaging Het
Ccdc18 C T 5: 108,283,918 (GRCm39) P74S probably damaging Het
Clec3a C T 8: 115,152,240 (GRCm39) S82L probably benign Het
Cnih3 A G 1: 181,234,078 (GRCm39) D43G probably damaging Het
Dpp10 G A 1: 123,578,087 (GRCm39) T128M probably damaging Het
Edar A T 10: 58,464,403 (GRCm39) F79I probably damaging Het
Fermt1 A G 2: 132,783,871 (GRCm39) L46P probably damaging Het
Glipr1 A G 10: 111,824,799 (GRCm39) probably benign Het
Gsdmc T C 15: 63,675,428 (GRCm39) N129S probably damaging Het
Ift88 T C 14: 57,718,871 (GRCm39) S619P possibly damaging Het
Itga9 T A 9: 118,679,873 (GRCm39) V262E probably benign Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mta1 T A 12: 113,100,203 (GRCm39) I688N possibly damaging Het
Muc4 A T 16: 32,570,894 (GRCm39) R651S probably benign Het
Opcml A G 9: 28,586,560 (GRCm39) I93V probably damaging Het
Or12d17 C T 17: 37,777,477 (GRCm39) P127S probably damaging Het
Or13p4 A G 4: 118,547,538 (GRCm39) L37P probably damaging Het
Or9r7 A G 10: 129,962,773 (GRCm39) V51A possibly damaging Het
Parg T G 14: 31,984,638 (GRCm39) probably null Het
Rps3a3 A G 13: 108,807,417 (GRCm39) probably benign Het
Safb T A 17: 56,907,813 (GRCm39) probably benign Het
Sat2 G T 11: 69,513,575 (GRCm39) C54F probably damaging Het
Scin T A 12: 40,127,530 (GRCm39) Y420F probably benign Het
Slc22a29 A T 19: 8,146,717 (GRCm39) S362T probably benign Het
Smchd1 T C 17: 71,738,254 (GRCm39) D537G probably null Het
Spred3 A G 7: 28,865,830 (GRCm39) S126P probably benign Het
Ssh1 C T 5: 114,080,578 (GRCm39) E951K probably damaging Het
Ssmem1 A G 6: 30,512,441 (GRCm39) E28G possibly damaging Het
Stox1 A T 10: 62,495,455 (GRCm39) probably benign Het
Syn3 T C 10: 85,900,770 (GRCm39) I373V probably benign Het
Tecrl A T 5: 83,502,674 (GRCm39) F58L probably benign Het
Trp53bp1 T C 2: 121,033,191 (GRCm39) N1655S possibly damaging Het
Usp2 G T 9: 44,002,524 (GRCm39) Q147H probably damaging Het
Usp24 T A 4: 106,264,326 (GRCm39) N1751K possibly damaging Het
Wipf1 T A 2: 73,264,487 (GRCm39) D438V 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
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
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 2015-04-16