Incidental Mutation 'IGL01307:Eif4a3'
ID 73502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4a3
Ensembl Gene ENSMUSG00000025580
Gene Name eukaryotic translation initiation factor 4A3
Synonyms 2400003O03Rik, Ddx48
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL01307
Quality Score
Status
Chromosome 11
Chromosomal Location 119179189-119190869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119184387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 268 (K268E)
Ref Sequence ENSEMBL: ENSMUSP00000101860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026667] [ENSMUST00000106253]
AlphaFold Q91VC3
Predicted Effect probably damaging
Transcript: ENSMUST00000026667
AA Change: K289E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026667
Gene: ENSMUSG00000025580
AA Change: K289E

DomainStartEndE-ValueType
DEXDc 57 254 2.44e-57 SMART
HELICc 291 372 1.63e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106253
AA Change: K268E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101860
Gene: ENSMUSG00000025580
AA Change: K268E

DomainStartEndE-ValueType
DEXDc 57 233 2.28e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138849
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,159 (GRCm39) M2302K possibly damaging Het
Actl9 A G 17: 33,653,152 (GRCm39) E404G probably damaging Het
Adamts12 A T 15: 11,237,632 (GRCm39) I314L possibly damaging Het
Card6 C A 15: 5,129,484 (GRCm39) M637I possibly damaging Het
Ccdc122 G A 14: 77,329,516 (GRCm39) probably benign Het
Cdh10 A G 15: 18,899,886 (GRCm39) D71G probably benign Het
Cdk15 A T 1: 59,326,955 (GRCm39) Y214F probably benign Het
Cdon A G 9: 35,368,860 (GRCm39) K365E probably benign Het
Cyp2c37 T C 19: 39,981,023 (GRCm39) V47A probably benign Het
Ddc T A 11: 11,789,462 (GRCm39) D271V probably damaging Het
Dnah6 G A 6: 73,042,708 (GRCm39) A3290V probably damaging Het
Dtl A T 1: 191,302,811 (GRCm39) S20T possibly damaging Het
Egf A C 3: 129,533,642 (GRCm39) I66S probably damaging Het
Fbxl16 A T 17: 26,038,338 (GRCm39) probably benign Het
Fez2 C T 17: 78,689,029 (GRCm39) probably benign Het
Fras1 C A 5: 96,929,551 (GRCm39) T3985K probably benign Het
Gbp4 T C 5: 105,284,887 (GRCm39) M1V probably null Het
Gpnmb A G 6: 49,022,299 (GRCm39) D143G probably benign Het
Grm5 A T 7: 87,724,220 (GRCm39) T837S probably damaging Het
Hmcn1 T C 1: 150,620,752 (GRCm39) T1153A possibly damaging Het
Hp C T 8: 110,302,415 (GRCm39) V178I probably benign Het
Macf1 A T 4: 123,276,922 (GRCm39) V4061E probably damaging Het
Msto1 C A 3: 88,820,993 (GRCm39) R34L probably benign Het
Mtf2 C T 5: 108,254,756 (GRCm39) T519M probably damaging Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Ncapd2 A G 6: 125,145,582 (GRCm39) V1355A possibly damaging Het
Nhlrc2 C A 19: 56,540,231 (GRCm39) Y73* probably null Het
Nwd2 A T 5: 63,965,626 (GRCm39) S1737C possibly damaging Het
Or1p1 T A 11: 74,180,254 (GRCm39) C261S possibly damaging Het
Osmr A G 15: 6,873,908 (GRCm39) V163A probably damaging Het
Palm3 T C 8: 84,756,074 (GRCm39) S529P possibly damaging Het
Pcnt A G 10: 76,247,422 (GRCm39) Y1037H probably damaging Het
Pkhd1l1 T C 15: 44,393,425 (GRCm39) I1920T possibly damaging Het
Plekha7 A G 7: 115,744,479 (GRCm39) probably benign Het
Psd C T 19: 46,303,097 (GRCm39) G762R probably damaging Het
Psmb8 A G 17: 34,418,210 (GRCm39) T51A probably benign Het
Rbm12 A C 2: 155,937,302 (GRCm39) probably benign Het
Rictor T A 15: 6,804,085 (GRCm39) probably null Het
Slc24a5 G A 2: 124,922,800 (GRCm39) G158S probably damaging Het
Spata31f1a G T 4: 42,850,963 (GRCm39) L398I probably benign Het
Stag1 A G 9: 100,833,841 (GRCm39) probably benign Het
Tln2 A G 9: 67,302,749 (GRCm39) M74T probably benign Het
Trim24 C A 6: 37,942,570 (GRCm39) D957E possibly damaging Het
Trpa1 A T 1: 14,966,771 (GRCm39) M531K probably benign Het
Ttn A G 2: 76,736,637 (GRCm39) Y4376H possibly damaging Het
Twsg1 T C 17: 66,255,646 (GRCm39) probably benign Het
Usp34 T A 11: 23,367,676 (GRCm39) V1671E probably damaging Het
Vwa5b2 A G 16: 20,423,020 (GRCm39) D1006G probably benign Het
Other mutations in Eif4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03204:Eif4a3 APN 11 119,184,442 (GRCm39) missense possibly damaging 0.90
tagalong UTSW 11 119,179,731 (GRCm39) missense probably damaging 1.00
R1916:Eif4a3 UTSW 11 119,184,737 (GRCm39) missense probably benign 0.00
R4969:Eif4a3 UTSW 11 119,179,705 (GRCm39) missense probably damaging 1.00
R5317:Eif4a3 UTSW 11 119,185,490 (GRCm39) missense probably damaging 0.99
R5588:Eif4a3 UTSW 11 119,186,952 (GRCm39) missense probably benign 0.34
R8031:Eif4a3 UTSW 11 119,179,731 (GRCm39) missense probably damaging 1.00
R8886:Eif4a3 UTSW 11 119,179,705 (GRCm39) missense probably damaging 1.00
R8919:Eif4a3 UTSW 11 119,190,758 (GRCm39) missense probably benign
Posted On 2013-10-07