Incidental Mutation 'R0755:Eif2ak1'
ID 70410
Institutional Source Beutler Lab
Gene Symbol Eif2ak1
Ensembl Gene ENSMUSG00000029613
Gene Name eukaryotic translation initiation factor 2 alpha kinase 1
Synonyms Hri
MMRRC Submission 038935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R0755 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 143803530-143839535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143821742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 353 (F353I)
Ref Sequence ENSEMBL: ENSMUSP00000098056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100487]
AlphaFold Q9Z2R9
Predicted Effect possibly damaging
Transcript: ENSMUST00000100487
AA Change: F353I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: F353I

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 93.8%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A T 14: 55,797,638 (GRCm39) probably benign Het
Acin1 A G 14: 54,889,292 (GRCm39) M1T probably null Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Aldh1a1 A G 19: 20,595,358 (GRCm39) M96V probably benign Het
Ankfn1 T A 11: 89,282,913 (GRCm39) M245L probably benign Het
Arhgap19 T C 19: 41,769,614 (GRCm39) K54E probably damaging Het
Atp1a2 T C 1: 172,116,948 (GRCm39) Q223R probably benign Het
Atp8a2 C T 14: 60,247,330 (GRCm39) V557I possibly damaging Het
AU041133 A T 10: 81,986,724 (GRCm39) K126* probably null Het
Axin1 T A 17: 26,401,480 (GRCm39) Y351N possibly damaging Het
Baiap2l1 T C 5: 144,221,367 (GRCm39) K176E probably damaging Het
Baz2a C T 10: 127,955,560 (GRCm39) T848I possibly damaging Het
Bbs2 A C 8: 94,808,708 (GRCm39) V333G probably benign Het
BC051019 G A 7: 109,315,302 (GRCm39) Q318* probably null Het
Bltp1 T C 3: 37,000,513 (GRCm39) S1231P probably damaging Het
Cdc37 C T 9: 21,051,160 (GRCm39) D362N probably damaging Het
Cep170 A T 1: 176,583,319 (GRCm39) V1020E probably damaging Het
Chrm4 T C 2: 91,758,747 (GRCm39) V385A probably benign Het
Cntrl G A 2: 35,035,151 (GRCm39) S373N probably damaging Het
Col23a1 G A 11: 51,467,706 (GRCm39) G19D probably damaging Het
Cyb5r4 G T 9: 86,911,625 (GRCm39) A100S probably damaging Het
Dctn1 C T 6: 83,166,059 (GRCm39) P115S probably damaging Het
Dhrs2 C T 14: 55,472,247 (GRCm39) T46M probably damaging Het
Disp2 T C 2: 118,620,243 (GRCm39) F325S probably benign Het
Dnah11 T G 12: 117,918,564 (GRCm39) T3456P possibly damaging Het
Dnah11 C A 12: 118,162,360 (GRCm39) V70F probably benign Het
Duoxa1 T A 2: 122,135,161 (GRCm39) T195S probably benign Het
Dync2i1 T C 12: 116,175,412 (GRCm39) I922V probably benign Het
Esam A G 9: 37,447,998 (GRCm39) T211A probably damaging Het
Faf1 A G 4: 109,819,036 (GRCm39) N636S probably benign Het
Fbxo25 A G 8: 13,985,219 (GRCm39) Y305C probably benign Het
Fchsd1 C T 18: 38,101,803 (GRCm39) probably null Het
Fdxacb1 T A 9: 50,683,025 (GRCm39) D329E possibly damaging Het
Gvin2 A T 7: 105,545,892 (GRCm39) F2387I possibly damaging Het
Hbq1b A T 11: 32,237,104 (GRCm39) probably null Het
Hmcn2 T A 2: 31,343,172 (GRCm39) V4566E probably damaging Het
Igkv6-29 G A 6: 70,116,053 (GRCm39) T5I probably benign Het
Itfg1 A T 8: 86,452,834 (GRCm39) D511E possibly damaging Het
Jmjd1c C T 10: 66,932,378 (GRCm39) probably benign Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Kdm4d T A 9: 14,375,591 (GRCm39) K89M probably damaging Het
Krt19 A T 11: 100,032,965 (GRCm39) D194E possibly damaging Het
Lamc1 A T 1: 153,123,196 (GRCm39) Y665N possibly damaging Het
Lct A T 1: 128,221,872 (GRCm39) S1556T possibly damaging Het
Macf1 A G 4: 123,263,719 (GRCm39) L4924P probably damaging Het
Mef2c G A 13: 83,804,472 (GRCm39) probably null Het
Mff G A 1: 82,728,326 (GRCm39) probably null Het
Mycbp2 A T 14: 103,412,230 (GRCm39) L2581Q probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nos3 T A 5: 24,572,295 (GRCm39) L123M probably damaging Het
Ntn5 C T 7: 45,335,952 (GRCm39) P128S probably benign Het
Nudt9 T C 5: 104,212,920 (GRCm39) V331A probably damaging Het
Or2y3 A T 17: 38,393,085 (GRCm39) Y261* probably null Het
Or7g34 T C 9: 19,478,415 (GRCm39) I88M possibly damaging Het
Pcdh7 A T 5: 57,877,664 (GRCm39) K406N possibly damaging Het
Pkdrej T A 15: 85,700,336 (GRCm39) I1867L probably benign Het
Plppr4 C T 3: 117,116,319 (GRCm39) G455R possibly damaging Het
Pramel11 A G 4: 143,624,299 (GRCm39) V66A probably damaging Het
Prkag2 G C 5: 25,152,629 (GRCm39) S158R probably benign Het
Ptprq T G 10: 107,418,400 (GRCm39) T1659P probably benign Het
Rasl12 A G 9: 65,318,241 (GRCm39) K202E probably benign Het
Rb1 A C 14: 73,434,653 (GRCm39) *922G probably null Het
Rsf1 C T 7: 97,229,174 (GRCm39) P22S probably damaging Het
Scn1a T G 2: 66,151,379 (GRCm39) T797P probably damaging Het
Sgsm2 A G 11: 74,756,323 (GRCm39) V342A probably damaging Het
Slc22a7 T G 17: 46,749,113 (GRCm39) H68P possibly damaging Het
Slc4a2 G A 5: 24,640,575 (GRCm39) A652T probably benign Het
Slc5a1 T A 5: 33,290,733 (GRCm39) L106M probably benign Het
Slco1c1 C T 6: 141,477,258 (GRCm39) P19S probably damaging Het
Snx1 A G 9: 66,005,738 (GRCm39) F127S probably damaging Het
Snx31 A T 15: 36,534,576 (GRCm39) I199N probably damaging Het
Snx33 T C 9: 56,832,741 (GRCm39) I443V possibly damaging Het
Sptbn1 A G 11: 30,089,016 (GRCm39) F749L probably damaging Het
Stoml3 T A 3: 53,405,559 (GRCm39) Y53* probably null Het
Stxbp2 A G 8: 3,692,019 (GRCm39) T554A probably benign Het
Tal1 T C 4: 114,925,573 (GRCm39) I214T probably damaging Het
Tas2r140 T A 6: 40,468,344 (GRCm39) I58N probably damaging Het
Thap1 A G 8: 26,648,501 (GRCm39) Y8C probably damaging Het
Thsd7a A T 6: 12,555,368 (GRCm39) L172Q probably damaging Het
Ube3c T A 5: 29,842,740 (GRCm39) D735E probably damaging Het
Unc80 G A 1: 66,544,082 (GRCm39) D402N probably damaging Het
Upf1 G T 8: 70,786,779 (GRCm39) R902S probably benign Het
Urb1 A G 16: 90,570,982 (GRCm39) Y1276H probably damaging Het
Urb1 A T 16: 90,576,026 (GRCm39) F843L probably benign Het
Vmn1r198 C T 13: 22,539,402 (GRCm39) T296I probably benign Het
Vmn1r33 A T 6: 66,588,892 (GRCm39) S221T probably damaging Het
Vmn2r103 A G 17: 19,993,830 (GRCm39) D69G probably benign Het
Vmn2r14 T G 5: 109,364,226 (GRCm39) L563F possibly damaging Het
Vmn2r60 G A 7: 41,844,869 (GRCm39) G744D probably damaging Het
Vstm4 T C 14: 32,614,601 (GRCm39) V181A probably damaging Het
Wdr72 G A 9: 74,052,376 (GRCm39) V136I probably benign Het
Zfp236 T A 18: 82,638,457 (GRCm39) N1388Y probably damaging Het
Zfp53 T A 17: 21,728,839 (GRCm39) F291I probably damaging Het
Zfp944 A T 17: 22,558,889 (GRCm39) H119Q possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TAACAACCTGGTGAGCTACACGGC -3'
(R):5'- AGGATGCACTGACCCCATAGGAAG -3'

Sequencing Primer
(F):5'- TACACGGCCAACTTAGTGG -3'
(R):5'- agcatccacaaagcccc -3'
Posted On 2013-09-30