Incidental Mutation 'IGL02472:Eif2ak1'
ID 294778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2ak1
Ensembl Gene ENSMUSG00000029613
Gene Name eukaryotic translation initiation factor 2 alpha kinase 1
Synonyms Hri
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # IGL02472
Quality Score
Status
Chromosome 5
Chromosomal Location 143803530-143839535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143821701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 339 (H339R)
Ref Sequence ENSEMBL: ENSMUSP00000098056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100487]
AlphaFold Q9Z2R9
Predicted Effect probably benign
Transcript: ENSMUST00000100487
AA Change: H339R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: H339R

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
low complexity region 62 81 N/A INTRINSIC
Pfam:Pkinase_Tyr 167 242 5.6e-6 PFAM
Pfam:Pkinase 167 257 1.9e-15 PFAM
low complexity region 314 320 N/A INTRINSIC
Pfam:Pkinase 365 580 1.3e-31 PFAM
Pfam:Pkinase_Tyr 373 578 1.9e-19 PFAM
coiled coil region 585 619 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140013
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit enlarged heart size and abnormal red blood cell development, morphology, and physiology with macrocytic anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Eif2ak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Eif2ak1 APN 5 143,826,288 (GRCm39) missense probably damaging 0.99
IGL02170:Eif2ak1 APN 5 143,816,278 (GRCm39) missense probably benign 0.01
IGL02898:Eif2ak1 APN 5 143,826,270 (GRCm39) missense probably damaging 1.00
IGL03078:Eif2ak1 APN 5 143,810,587 (GRCm39) missense probably benign 0.02
PIT4520001:Eif2ak1 UTSW 5 143,836,027 (GRCm39) nonsense probably null
R0523:Eif2ak1 UTSW 5 143,818,984 (GRCm39) missense probably damaging 1.00
R0755:Eif2ak1 UTSW 5 143,821,742 (GRCm39) missense possibly damaging 0.94
R1128:Eif2ak1 UTSW 5 143,835,994 (GRCm39) splice site probably null
R1203:Eif2ak1 UTSW 5 143,820,797 (GRCm39) missense probably benign 0.00
R1445:Eif2ak1 UTSW 5 143,810,717 (GRCm39) splice site probably benign
R1474:Eif2ak1 UTSW 5 143,808,785 (GRCm39) missense probably damaging 1.00
R1972:Eif2ak1 UTSW 5 143,821,532 (GRCm39) missense probably benign 0.04
R3885:Eif2ak1 UTSW 5 143,821,479 (GRCm39) missense probably benign 0.21
R3889:Eif2ak1 UTSW 5 143,821,479 (GRCm39) missense probably benign 0.21
R4754:Eif2ak1 UTSW 5 143,838,621 (GRCm39) missense probably damaging 0.99
R4971:Eif2ak1 UTSW 5 143,818,986 (GRCm39) missense probably damaging 1.00
R5007:Eif2ak1 UTSW 5 143,810,698 (GRCm39) missense probably benign
R5487:Eif2ak1 UTSW 5 143,833,981 (GRCm39) critical splice acceptor site probably null
R5505:Eif2ak1 UTSW 5 143,803,745 (GRCm39) missense probably benign
R5808:Eif2ak1 UTSW 5 143,820,812 (GRCm39) missense probably benign 0.21
R5888:Eif2ak1 UTSW 5 143,823,733 (GRCm39) missense probably damaging 1.00
R6290:Eif2ak1 UTSW 5 143,821,617 (GRCm39) missense probably benign 0.34
R6322:Eif2ak1 UTSW 5 143,835,913 (GRCm39) missense probably benign 0.05
R6475:Eif2ak1 UTSW 5 143,803,765 (GRCm39) splice site probably null
R7343:Eif2ak1 UTSW 5 143,814,489 (GRCm39) missense probably damaging 1.00
R7525:Eif2ak1 UTSW 5 143,823,716 (GRCm39) missense probably damaging 1.00
R7554:Eif2ak1 UTSW 5 143,816,296 (GRCm39) missense probably damaging 1.00
R7659:Eif2ak1 UTSW 5 143,826,280 (GRCm39) missense probably damaging 1.00
R8341:Eif2ak1 UTSW 5 143,821,755 (GRCm39) missense probably benign 0.34
R8537:Eif2ak1 UTSW 5 143,835,887 (GRCm39) missense probably damaging 1.00
R8808:Eif2ak1 UTSW 5 143,816,264 (GRCm39) missense probably damaging 1.00
R9062:Eif2ak1 UTSW 5 143,803,548 (GRCm39) start gained probably benign
R9748:Eif2ak1 UTSW 5 143,819,031 (GRCm39) missense probably damaging 0.99
X0027:Eif2ak1 UTSW 5 143,816,253 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16