Incidental Mutation 'R9097:Eif3k'
ID 691415
Institutional Source Beutler Lab
Gene Symbol Eif3k
Ensembl Gene ENSMUSG00000053565
Gene Name eukaryotic translation initiation factor 3, subunit K
Synonyms Eif3s12, 1200009C21Rik, eIF3K
MMRRC Submission 068912-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R9097 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28670797-28681289 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 28671660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Lysine at position 193 (*193K)
Ref Sequence ENSEMBL: ENSMUSP00000147214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066070] [ENSMUST00000207683] [ENSMUST00000208616] [ENSMUST00000208707]
AlphaFold Q9DBZ5
Predicted Effect probably benign
Transcript: ENSMUST00000066070
SMART Domains Protein: ENSMUSP00000066038
Gene: ENSMUSG00000053565

DomainStartEndE-ValueType
Pfam:CSN8_PSD8_EIF3K 61 200 1.2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207683
Predicted Effect probably null
Transcript: ENSMUST00000208616
AA Change: *193K
Predicted Effect probably benign
Transcript: ENSMUST00000208707
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 96% (50/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxrl G A 14: 33,793,660 (GRCm39) V463I probably benign Het
Aox1 T A 1: 58,326,887 (GRCm39) L162Q possibly damaging Het
Arhgap40 A T 2: 158,389,584 (GRCm39) M586L probably benign Het
Arnt G T 3: 95,397,588 (GRCm39) S535I probably benign Het
Bsx G T 9: 40,785,636 (GRCm39) G55C probably damaging Het
Ccdc168 T C 1: 44,098,049 (GRCm39) I1016M possibly damaging Het
Col9a1 A T 1: 24,224,207 (GRCm39) I130F unknown Het
Cyp51 G T 5: 4,149,172 (GRCm39) T235N possibly damaging Het
Depdc1a T A 3: 159,204,117 (GRCm39) D55E probably benign Het
Dlc1 A T 8: 37,080,721 (GRCm39) I10N probably benign Het
Dzank1 G T 2: 144,316,882 (GRCm39) L767I possibly damaging Het
Eprs1 C A 1: 185,139,303 (GRCm39) A896E probably benign Het
Evc2 T A 5: 37,550,505 (GRCm39) F840I possibly damaging Het
Fut2 G T 7: 45,300,375 (GRCm39) H132Q probably benign Het
Gbp11 T C 5: 105,474,347 (GRCm39) *443W probably null Het
Gimd1 T A 3: 132,340,661 (GRCm39) M59K probably benign Het
Glis2 A G 16: 4,429,640 (GRCm39) T228A probably damaging Het
Gm21663 G C 5: 26,147,167 (GRCm39) C46W probably benign Het
Gpr162 A G 6: 124,836,570 (GRCm39) I367T probably benign Het
Grik1 G A 16: 87,732,796 (GRCm39) T692I Het
Igf2r G T 17: 12,910,100 (GRCm39) A2043D probably damaging Het
Il12b C A 11: 44,301,107 (GRCm39) L208M probably benign Het
Il12b T A 11: 44,301,108 (GRCm39) L208Q probably damaging Het
Lrrk2 C T 15: 91,557,459 (GRCm39) probably benign Het
Map3k9 T C 12: 81,819,855 (GRCm39) D133G possibly damaging Het
Mrc2 A G 11: 105,231,398 (GRCm39) D777G probably damaging Het
Mtrr A G 13: 68,723,441 (GRCm39) L157P probably benign Het
Nol4l C A 2: 153,312,630 (GRCm39) R226L probably damaging Het
Nsmaf CAAACTTTTAAACTT CAAACTT 4: 6,416,543 (GRCm39) probably null Het
Or4f7 T A 2: 111,644,196 (GRCm39) K292* probably null Het
Or51f23c-ps1 A G 7: 102,431,475 (GRCm39) H264R probably damaging Het
Or5p73 A T 7: 108,064,815 (GRCm39) I95F probably damaging Het
Or6c7 T A 10: 129,323,647 (GRCm39) M256K possibly damaging Het
Or7g22 G A 9: 19,048,670 (GRCm39) C127Y probably damaging Het
Or9g8 T A 2: 85,607,669 (GRCm39) V247E probably damaging Het
Pkn2 C T 3: 142,515,249 (GRCm39) R695Q probably benign Het
Ppp1r9a A G 6: 4,906,012 (GRCm39) D189G probably damaging Het
Prkca A G 11: 107,905,061 (GRCm39) S226P probably benign Het
Ptpru T C 4: 131,499,843 (GRCm39) N1267S probably damaging Het
Retnlb T A 16: 48,638,980 (GRCm39) probably benign Het
Rrp12 A T 19: 41,878,577 (GRCm39) D189E probably benign Het
Serpinb7 G A 1: 107,377,907 (GRCm39) C200Y probably damaging Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Stk32a A T 18: 43,446,497 (GRCm39) M316L possibly damaging Het
Supt6 G T 11: 78,113,100 (GRCm39) H948N probably benign Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Tasp1 A T 2: 139,725,690 (GRCm39) probably null Het
Telo2 T C 17: 25,324,066 (GRCm39) T550A probably benign Het
Tmem131l A T 3: 83,850,122 (GRCm39) N225K probably damaging Het
Tnc T C 4: 63,888,622 (GRCm39) T1724A possibly damaging Het
Tyk2 C A 9: 21,020,072 (GRCm39) E1029* probably null Het
Uhmk1 C T 1: 170,042,879 (GRCm39) probably benign Het
Vav2 G A 2: 27,181,850 (GRCm39) R330W probably damaging Het
Vmn1r16 A T 6: 57,300,250 (GRCm39) I124N probably benign Het
Vmn1r181 A G 7: 23,684,444 (GRCm39) N303S probably benign Het
Vmn1r50 G A 6: 90,085,022 (GRCm39) V256I probably benign Het
Other mutations in Eif3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Eif3k APN 7 28,674,101 (GRCm39) splice site probably benign
IGL03049:Eif3k APN 7 28,670,858 (GRCm39) missense possibly damaging 0.72
R1833:Eif3k UTSW 7 28,670,852 (GRCm39) missense probably benign 0.03
R4698:Eif3k UTSW 7 28,671,969 (GRCm39) missense possibly damaging 0.62
R5609:Eif3k UTSW 7 28,681,133 (GRCm39) missense probably benign 0.30
R6866:Eif3k UTSW 7 28,676,651 (GRCm39) missense possibly damaging 0.85
R8128:Eif3k UTSW 7 28,679,742 (GRCm39) critical splice donor site probably benign
R8887:Eif3k UTSW 7 28,679,901 (GRCm39) nonsense probably null
R9193:Eif3k UTSW 7 28,673,624 (GRCm39) missense probably damaging 1.00
Z1088:Eif3k UTSW 7 28,674,024 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AGTGCTGAGATCAAAGACACC -3'
(R):5'- TCTGCCAGATTCCAGGTTGC -3'

Sequencing Primer
(F):5'- GTTTATTCAAAATGTGACAGGAACGG -3'
(R):5'- AGATTCCAGGTTGCTGGCC -3'
Posted On 2021-12-30