Incidental Mutation 'R9193:Eif3k'
ID 697808
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R9193 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28670797-28681289 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28673624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 150 (Y150C)
Ref Sequence ENSEMBL: ENSMUSP00000066038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066070] [ENSMUST00000207683] [ENSMUST00000208616] [ENSMUST00000208707]
AlphaFold Q9DBZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000066070
AA Change: Y150C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066038
Gene: ENSMUSG00000053565
AA Change: Y150C

DomainStartEndE-ValueType
Pfam:CSN8_PSD8_EIF3K 61 200 1.2e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207683
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208616
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208707
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (61/61)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak1 A T 2: 32,520,391 (GRCm39) K79M probably benign Het
Amy1 T C 3: 113,356,278 (GRCm39) K293E probably benign Het
Bcl2l10 A G 9: 75,255,333 (GRCm39) Q50R probably benign Het
Bpifa6 G A 2: 153,826,740 (GRCm39) G35D probably benign Het
Cachd1 C A 4: 100,634,339 (GRCm39) P5Q unknown Het
Capn13 A T 17: 73,652,191 (GRCm39) I266N probably damaging Het
Chil3 A G 3: 106,063,081 (GRCm39) S170P possibly damaging Het
Ckap4 A G 10: 84,363,350 (GRCm39) I571T probably damaging Het
Col14a1 A G 15: 55,242,964 (GRCm39) M371V unknown Het
Dag1 A G 9: 108,085,467 (GRCm39) L558P possibly damaging Het
Edem3 G A 1: 151,694,270 (GRCm39) E868K probably benign Het
Farp1 T C 14: 121,518,281 (GRCm39) I988T probably benign Het
Fat3 A G 9: 15,910,248 (GRCm39) M1918T probably benign Het
Gba2 A G 4: 43,578,112 (GRCm39) I79T probably benign Het
Gbp8 T C 5: 105,179,169 (GRCm39) D110G probably damaging Het
Gm57858 G T 3: 36,089,428 (GRCm39) N165K probably benign Het
H2-M2 T A 17: 37,793,428 (GRCm39) M193L probably benign Het
H2-T13 A G 17: 36,391,956 (GRCm39) V39A possibly damaging Het
Ighv7-1 T A 12: 113,860,110 (GRCm39) D94V probably damaging Het
Il2ra T C 2: 11,689,202 (GRCm39) F244L possibly damaging Het
Jag1 A T 2: 136,931,764 (GRCm39) H602Q probably null Het
Kidins220 A T 12: 25,036,966 (GRCm39) I16F possibly damaging Het
Klb A G 5: 65,529,368 (GRCm39) T299A possibly damaging Het
Lama4 A G 10: 38,951,444 (GRCm39) K1063R probably benign Het
Lrit2 A G 14: 36,794,550 (GRCm39) E538G possibly damaging Het
Lrrc7 A T 3: 158,059,011 (GRCm39) L32* probably null Het
Lrrtm3 A T 10: 63,765,883 (GRCm39) I568N probably damaging Het
Myom1 A G 17: 71,343,295 (GRCm39) D164G probably damaging Het
Naaladl2 T C 3: 23,900,742 (GRCm39) D696G probably damaging Het
Nalcn A T 14: 123,545,792 (GRCm39) L1073* probably null Het
Nid2 T C 14: 19,853,278 (GRCm39) S1166P probably damaging Het
Nlrp4c T C 7: 6,095,621 (GRCm39) V833A probably benign Het
Nyap2 T C 1: 81,275,712 (GRCm39) S619P probably damaging Het
Or10d5j T C 9: 39,867,878 (GRCm39) M118V probably damaging Het
Or2a20 A T 6: 43,194,086 (GRCm39) T80S probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Or8k16 C A 2: 85,520,644 (GRCm39) Y290* probably null Het
P3h2 T C 16: 25,923,991 (GRCm39) N148S probably benign Het
P4htm A G 9: 108,460,081 (GRCm39) M231T probably damaging Het
Pank1 T A 19: 34,804,634 (GRCm39) K349I possibly damaging Het
Pgam5 A G 5: 110,413,466 (GRCm39) Y210H probably benign Het
Prb1b T C 6: 132,288,996 (GRCm39) H276R unknown Het
Prl2a1 T A 13: 27,992,535 (GRCm39) C220S probably damaging Het
Psca C T 15: 74,587,932 (GRCm39) Q39* probably null Het
Rgs20 A T 1: 5,091,067 (GRCm39) M121K possibly damaging Het
S100z C T 13: 95,613,883 (GRCm39) V76M possibly damaging Het
Slc30a10 T C 1: 185,195,034 (GRCm39) I282T probably damaging Het
Slc30a3 T C 5: 31,246,088 (GRCm39) Y214C probably damaging Het
Sox5 C T 6: 143,790,570 (GRCm39) E497K probably benign Het
Spata31g1 A G 4: 42,971,519 (GRCm39) D284G probably benign Het
Sptbn1 C T 11: 30,087,551 (GRCm39) E963K possibly damaging Het
Srl T C 16: 4,311,723 (GRCm39) E465G possibly damaging Het
Tacc2 T C 7: 130,228,304 (GRCm39) M1663T probably benign Het
Tas2r119 T G 15: 32,177,932 (GRCm39) V166G probably benign Het
Tcf7l1 A G 6: 72,611,205 (GRCm39) V191A probably damaging Het
Thap7 A T 16: 17,346,901 (GRCm39) I92K probably damaging Het
Tnfsf10 A G 3: 27,371,407 (GRCm39) T38A possibly damaging Het
Trav7-5 C G 14: 53,768,615 (GRCm39) A61G probably benign Het
Trim30c C T 7: 104,031,553 (GRCm39) V421I probably benign Het
Ugt2b38 A T 5: 87,571,729 (GRCm39) M101K probably benign Het
Vmn1r44 T A 6: 89,870,565 (GRCm39) C104S probably damaging Het
Wdr74 T A 19: 8,715,240 (GRCm39) V133E probably damaging Het
Zfp735 A T 11: 73,580,600 (GRCm39) Y33F possibly damaging 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
R9097:Eif3k UTSW 7 28,671,660 (GRCm39) makesense probably null
Z1088:Eif3k UTSW 7 28,674,024 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ACTCTGGGGCAGGTAACAAC -3'
(R):5'- GTTCCCAAAGTTCAAGCCATATAC -3'

Sequencing Primer
(F):5'- GGCAGGTAACAACCTCGG -3'
(R):5'- TATACAGCCCCGAGGATAAAGCTG -3'
Posted On 2022-02-07