Incidental Mutation 'R8128:Eif3k'
ID 652005
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 067557-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R8128 (G1)
Quality Score 186.009
Status Validated
Chromosome 7
Chromosomal Location 28670797-28681289 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) A to T at 28679742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066070] [ENSMUST00000085835] [ENSMUST00000207185] [ENSMUST00000207683] [ENSMUST00000208227] [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: ENSMUST00000085835
SMART Domains Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337

DomainStartEndE-ValueType
S_TKc 17 274 3.58e-84 SMART
low complexity region 301 318 N/A INTRINSIC
low complexity region 373 383 N/A INTRINSIC
low complexity region 385 416 N/A INTRINSIC
low complexity region 426 446 N/A INTRINSIC
CNH 506 813 4.93e-106 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207185
Predicted Effect probably benign
Transcript: ENSMUST00000207683
Predicted Effect probably benign
Transcript: ENSMUST00000208227
Predicted Effect probably benign
Transcript: ENSMUST00000208616
Predicted Effect probably benign
Transcript: ENSMUST00000208707
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.6%
Validation Efficiency 98% (42/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 9,008,395 (GRCm39) R1188G probably damaging Het
Abcc5 G A 16: 20,184,473 (GRCm39) R1036C probably damaging Het
Arhgap22 T A 14: 33,089,042 (GRCm39) F508I probably benign Het
Bahcc1 C T 11: 120,163,216 (GRCm39) Q505* probably null Het
Birc6 T A 17: 74,916,253 (GRCm39) L1723Q probably damaging Het
Caprin2 A G 6: 148,784,940 (GRCm39) probably null Het
Cfap69 C A 5: 5,646,034 (GRCm39) M555I probably benign Het
Cgn C T 3: 94,676,691 (GRCm39) A773T probably benign Het
Cnot7 A G 8: 40,963,129 (GRCm39) V15A probably damaging Het
Col7a1 A G 9: 108,784,789 (GRCm39) R206G unknown Het
Dscam C A 16: 96,602,374 (GRCm39) probably null Het
Epn2 G T 11: 61,413,321 (GRCm39) probably null Het
Fitm2 T C 2: 163,311,568 (GRCm39) D215G probably benign Het
Foxa3 A T 7: 18,757,341 (GRCm39) M1K probably null Het
Glyctk T C 9: 106,032,501 (GRCm39) H504R probably benign Het
Grin3b T C 10: 79,812,944 (GRCm39) L394P Het
Hgh1 A G 15: 76,254,581 (GRCm39) Y319C probably damaging Het
Hk1 T C 10: 62,117,622 (GRCm39) T635A probably benign Het
Igsf3 T A 3: 101,346,947 (GRCm39) N627K probably damaging Het
Lmtk3 G T 7: 45,443,598 (GRCm39) M760I Het
Lrp1b G A 2: 41,159,248 (GRCm39) A1678V probably null Het
Lrrc8c A T 5: 105,755,488 (GRCm39) N421I probably damaging Het
Mfsd13b C A 7: 120,590,495 (GRCm39) R79S possibly damaging Het
Or1q1 A T 2: 36,887,673 (GRCm39) M284L probably benign Het
Or5p50 A C 7: 107,422,632 (GRCm39) F15V probably damaging Het
Pappa2 T C 1: 158,764,234 (GRCm39) T426A possibly damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pkhd1l1 A T 15: 44,361,449 (GRCm39) I500F possibly damaging Het
Polr3gl T A 3: 96,487,824 (GRCm39) probably null Het
Psmg3 A G 5: 139,809,788 (GRCm39) V86A probably damaging Het
Ptgs2 T A 1: 149,977,099 (GRCm39) V102E probably damaging Het
Rhpn1 T C 15: 75,583,032 (GRCm39) probably null Het
Scand1 T C 2: 156,153,961 (GRCm39) D103G probably damaging Het
Serpinb6d T C 13: 33,850,383 (GRCm39) I70T possibly damaging Het
Slco3a1 A T 7: 73,934,049 (GRCm39) S708T probably damaging Het
Sprr2d G A 3: 92,247,760 (GRCm39) C67Y unknown Het
Taf2 G A 15: 54,923,384 (GRCm39) R298C probably damaging Het
Trafd1 G T 5: 121,510,465 (GRCm39) P567Q possibly damaging Het
Trim32 A G 4: 65,531,682 (GRCm39) N80D probably damaging Het
Vmn1r193 A G 13: 22,403,113 (GRCm39) L293S probably damaging Het
Vmn2r12 A T 5: 109,239,747 (GRCm39) M272K possibly damaging Het
Vmn2r90 T A 17: 17,954,155 (GRCm39) L773Q probably 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
R8887:Eif3k UTSW 7 28,679,901 (GRCm39) nonsense probably null
R9097:Eif3k UTSW 7 28,671,660 (GRCm39) makesense 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'- GCAACACAACTGTTTATTGACCATC -3'
(R):5'- TACCCTGGAGCGATATGTGG -3'

Sequencing Primer
(F):5'- GACTGCTCTTCCAAAGGTCCTGAG -3'
(R):5'- GACACAAGCCAAAGAGAATGCCTATG -3'
Posted On 2020-09-18