Incidental Mutation 'IGL01307:Eif4a3'
ID73502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4a3
Ensembl Gene ENSMUSG00000025580
Gene Nameeukaryotic translation initiation factor 4A3
Synonyms2400003O03Rik, Ddx48
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL01307
Quality Score
Status
Chromosome11
Chromosomal Location119288363-119300089 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119293561 bp
ZygosityHeterozygous
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]
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: 9,297,159 M2302K possibly damaging Het
Actl9 A G 17: 33,434,178 E404G probably damaging Het
Adamts12 A T 15: 11,237,546 I314L possibly damaging Het
Card6 C A 15: 5,100,002 M637I possibly damaging Het
Ccdc122 G A 14: 77,092,076 probably benign Het
Cdh10 A G 15: 18,899,800 D71G probably benign Het
Cdk15 A T 1: 59,287,796 Y214F probably benign Het
Cdon A G 9: 35,457,564 K365E probably benign Het
Cyp2c37 T C 19: 39,992,579 V47A probably benign Het
Ddc T A 11: 11,839,462 D271V probably damaging Het
Dnah6 G A 6: 73,065,725 A3290V probably damaging Het
Dtl A T 1: 191,570,699 S20T possibly damaging Het
Egf A C 3: 129,739,993 I66S probably damaging Het
Fam205a1 G T 4: 42,850,963 L398I probably benign Het
Fbxl16 A T 17: 25,819,364 probably benign Het
Fez2 C T 17: 78,381,600 probably benign Het
Fras1 C A 5: 96,781,692 T3985K probably benign Het
Gbp4 T C 5: 105,137,021 M1V probably null Het
Gpnmb A G 6: 49,045,365 D143G probably benign Het
Grm5 A T 7: 88,075,012 T837S probably damaging Het
Hmcn1 T C 1: 150,745,001 T1153A possibly damaging Het
Hp C T 8: 109,575,783 V178I probably benign Het
Macf1 A T 4: 123,383,129 V4061E probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Mtf2 C T 5: 108,106,890 T519M probably damaging Het
Myo3a T A 2: 22,558,289 N25K probably damaging Het
Ncapd2 A G 6: 125,168,619 V1355A possibly damaging Het
Nhlrc2 C A 19: 56,551,799 Y73* probably null Het
Nwd2 A T 5: 63,808,283 S1737C possibly damaging Het
Olfr59 T A 11: 74,289,428 C261S possibly damaging Het
Osmr A G 15: 6,844,427 V163A probably damaging Het
Palm3 T C 8: 84,029,445 S529P possibly damaging Het
Pcnt A G 10: 76,411,588 Y1037H probably damaging Het
Pkhd1l1 T C 15: 44,530,029 I1920T possibly damaging Het
Plekha7 A G 7: 116,145,244 probably benign Het
Psd C T 19: 46,314,658 G762R probably damaging Het
Psmb8 A G 17: 34,199,236 T51A probably benign Het
Rbm12 A C 2: 156,095,382 probably benign Het
Rictor T A 15: 6,774,604 probably null Het
Slc24a5 G A 2: 125,080,880 G158S probably damaging Het
Stag1 A G 9: 100,951,788 probably benign Het
Tln2 A G 9: 67,395,467 M74T probably benign Het
Trim24 C A 6: 37,965,635 D957E possibly damaging Het
Trpa1 A T 1: 14,896,547 M531K probably benign Het
Ttn A G 2: 76,906,293 Y4376H possibly damaging Het
Twsg1 T C 17: 65,948,651 probably benign Het
Usp34 T A 11: 23,417,676 V1671E probably damaging Het
Vwa5b2 A G 16: 20,604,270 D1006G probably benign Het
Other mutations in Eif4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03204:Eif4a3 APN 11 119293616 missense possibly damaging 0.90
R1916:Eif4a3 UTSW 11 119293911 missense probably benign 0.00
R4969:Eif4a3 UTSW 11 119288879 missense probably damaging 1.00
R5317:Eif4a3 UTSW 11 119294664 missense probably damaging 0.99
R5588:Eif4a3 UTSW 11 119296126 missense probably benign 0.34
Posted On2013-10-07