Incidental Mutation 'R5487:Eif2ak1'
ID 501058
Institutional Source Beutler Lab
Gene Symbol Eif2ak1
Ensembl Gene ENSMUSG00000029613
Gene Name eukaryotic translation initiation factor 2 alpha kinase 1
Synonyms Hri
MMRRC Submission 043048-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R5487 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 143803530-143839535 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 143833981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000098056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079624] [ENSMUST00000100487] [ENSMUST00000100487] [ENSMUST00000100487] [ENSMUST00000110717] [ENSMUST00000110718]
AlphaFold Q9Z2R9
Predicted Effect probably benign
Transcript: ENSMUST00000079624
SMART Domains Protein: ENSMUSP00000078571
Gene: ENSMUSG00000029607

DomainStartEndE-ValueType
ANK 36 61 2.55e2 SMART
ANK 65 118 8.5e2 SMART
ANK 124 153 1.27e-2 SMART
ANK 157 186 7.95e-4 SMART
ANK 191 230 3.74e0 SMART
ANK 234 263 3.46e-4 SMART
Blast:ANK 267 300 4e-11 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000100487
SMART Domains Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613

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 probably null
Transcript: ENSMUST00000100487
SMART Domains Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613

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 probably null
Transcript: ENSMUST00000100487
SMART Domains Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613

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 probably benign
Transcript: ENSMUST00000110717
SMART Domains Protein: ENSMUSP00000106345
Gene: ENSMUSG00000029607

DomainStartEndE-ValueType
Blast:ANK 28 57 6e-11 BLAST
ANK 78 103 1.6e0 SMART
ANK 107 160 5.6e0 SMART
ANK 166 195 8.4e-5 SMART
ANK 199 228 5.3e-6 SMART
ANK 233 272 2.4e-2 SMART
ANK 276 305 2.3e-6 SMART
Blast:ANK 309 342 5e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000110718
SMART Domains Protein: ENSMUSP00000106346
Gene: ENSMUSG00000029607

DomainStartEndE-ValueType
ANK 35 60 2.55e2 SMART
ANK 64 117 8.5e2 SMART
ANK 123 152 1.27e-2 SMART
ANK 156 185 7.95e-4 SMART
ANK 190 229 3.74e0 SMART
ANK 233 262 3.46e-4 SMART
Blast:ANK 266 299 4e-11 BLAST
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.6%
  • 20x: 89.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,844,340 (GRCm39) V959A probably damaging Het
Alg3 A T 16: 20,426,530 (GRCm39) I115N probably damaging Het
Ash1l A G 3: 88,888,733 (GRCm39) D204G probably benign Het
Camta1 C A 4: 151,229,211 (GRCm39) E540D possibly damaging Het
Cblc T C 7: 19,518,733 (GRCm39) T413A probably benign Het
Ccdc122 T A 14: 77,329,119 (GRCm39) H57Q probably benign Het
Ccdc85a A T 11: 28,526,768 (GRCm39) L280* probably null Het
Cd46 T G 1: 194,750,478 (GRCm39) probably null Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Dnaaf3 T C 7: 4,526,864 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Ecpas T C 4: 58,809,421 (GRCm39) D1651G probably benign Het
Erich4 A G 7: 25,314,664 (GRCm39) M83T probably benign Het
Fbxo24 C T 5: 137,617,094 (GRCm39) G331E possibly damaging Het
Fzd4 A G 7: 89,056,615 (GRCm39) I221V probably benign Het
G6pc2 T C 2: 69,056,921 (GRCm39) V189A probably damaging Het
Gm10663 A C 8: 65,527,686 (GRCm39) E1A probably null Het
Gm4871 C A 5: 144,967,199 (GRCm39) E178D probably damaging Het
Igdcc3 A G 9: 65,088,866 (GRCm39) E415G probably damaging Het
Kmt2a A T 9: 44,733,272 (GRCm39) probably benign Het
Krba1 T C 6: 48,380,973 (GRCm39) V103A probably damaging Het
Lcat T C 8: 106,666,296 (GRCm39) K409E probably benign Het
Lrriq4 C A 3: 30,714,144 (GRCm39) N497K probably benign Het
Mical2 A G 7: 111,919,842 (GRCm39) T451A probably damaging Het
Noxo1 C T 17: 24,917,291 (GRCm39) probably benign Het
Oas1a A G 5: 121,045,490 (GRCm39) I17T probably damaging Het
Otog A T 7: 45,938,192 (GRCm39) Y1967F probably benign Het
Pcdha9 A T 18: 37,132,703 (GRCm39) N591Y probably damaging Het
Plxna4 A G 6: 32,494,218 (GRCm39) Y133H probably damaging Het
Pou5f2 T C 13: 78,173,118 (GRCm39) L20P probably benign Het
Prkcb T A 7: 122,199,948 (GRCm39) C586* probably null Het
Sema3b A T 9: 107,478,161 (GRCm39) M408K probably damaging Het
Serpinf2 G A 11: 75,324,031 (GRCm39) T332I probably damaging Het
Tmbim1 A G 1: 74,332,164 (GRCm39) V121A probably benign Het
Tph2 C T 10: 114,955,779 (GRCm39) G338D probably damaging Het
Trpc2 GTGTCCTA GTGTCCTATGTCCTA 7: 101,744,420 (GRCm39) probably null Het
Ttn C T 2: 76,642,896 (GRCm39) V13247M probably damaging Het
Uty C T Y: 1,174,825 (GRCm39) G192R probably damaging Het
Vmn2r65 G T 7: 84,595,529 (GRCm39) P385Q possibly damaging Het
Wdfy3 G A 5: 101,984,140 (GRCm39) R3489W probably damaging Het
Zfp750 A G 11: 121,404,558 (GRCm39) S106P probably benign 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
IGL02472:Eif2ak1 APN 5 143,821,701 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AAAACGTTCCTCAGCGGCC -3'
(R):5'- AGGACATGTTCAACTAGGTCTCTTTT -3'

Sequencing Primer
(F):5'- AGGCCTTGATAACCTTGGAC -3'
(R):5'- TCTGGATGATGTCTGCAC -3'
Posted On 2017-12-01