Incidental Mutation 'R5317:Eif4a3'
ID 405886
Institutional Source Beutler Lab
Gene Symbol Eif4a3
Ensembl Gene ENSMUSG00000025580
Gene Name eukaryotic translation initiation factor 4A3
Synonyms 2400003O03Rik, Ddx48
MMRRC Submission 042900-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R5317 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 119179189-119190869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119185490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 117 (H117N)
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: H138N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026667
Gene: ENSMUSG00000025580
AA Change: H138N

DomainStartEndE-ValueType
DEXDc 57 254 2.44e-57 SMART
HELICc 291 372 1.63e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106253
AA Change: H117N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101860
Gene: ENSMUSG00000025580
AA Change: H117N

DomainStartEndE-ValueType
DEXDc 57 233 2.28e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135294
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arih1 A C 9: 59,300,619 (GRCm39) H542Q probably benign Het
Ccn4 T G 15: 66,789,131 (GRCm39) S206A probably benign Het
Cnot8 T C 11: 58,004,029 (GRCm39) S155P probably damaging Het
Dcc C T 18: 71,517,226 (GRCm39) E810K possibly damaging Het
Dmrt2 T C 19: 25,650,844 (GRCm39) V10A probably benign Het
Dnah17 G A 11: 118,018,109 (GRCm39) R129W possibly damaging Het
Fhip2a T A 19: 57,370,141 (GRCm39) probably null Het
Gpr179 T A 11: 97,228,671 (GRCm39) Q1161H probably damaging Het
Grm1 T G 10: 10,622,443 (GRCm39) M427L possibly damaging Het
Grxcr2 T A 18: 42,131,916 (GRCm39) H51L probably damaging Het
Il1rn C T 2: 24,239,554 (GRCm39) T150I probably benign Het
Kcnc4 C T 3: 107,366,055 (GRCm39) R51H probably damaging Het
Kcnh3 T C 15: 99,125,822 (GRCm39) S160P probably benign Het
Lrrc37 T C 11: 103,504,971 (GRCm39) I2332M possibly damaging Het
Mcm9 G A 10: 53,414,330 (GRCm39) P250L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr2 T C 9: 13,704,475 (GRCm39) F201L probably benign Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pan3 T C 5: 147,480,020 (GRCm39) probably null Het
Pcdhgb7 T A 18: 37,885,887 (GRCm39) D352E probably benign Het
Pdgfa A G 5: 138,974,102 (GRCm39) probably null Het
Pkhd1 T C 1: 20,520,528 (GRCm39) D1938G probably damaging Het
Plac8 C T 5: 100,704,345 (GRCm39) probably null Het
Rab11fip3 T C 17: 26,287,052 (GRCm39) E367G possibly damaging Het
Sgo2a C T 1: 58,054,683 (GRCm39) P289L probably benign Het
Slc22a18 T C 7: 143,052,896 (GRCm39) Y374H probably damaging Het
Slco2a1 T C 9: 102,956,778 (GRCm39) V530A probably benign Het
Spty2d1 A T 7: 46,648,049 (GRCm39) S293R possibly damaging Het
Stt3b G T 9: 115,081,578 (GRCm39) Y569* probably null Het
Tas2r140 A G 6: 133,032,543 (GRCm39) Y72H probably benign Het
Usp35 C T 7: 96,960,846 (GRCm39) R860H probably damaging Het
Vmn2r130 T A 17: 23,282,557 (GRCm39) M79K probably benign Het
Vsig10l T C 7: 43,114,247 (GRCm39) S190P probably damaging Het
Wwc2 C T 8: 48,300,590 (GRCm39) D958N unknown Het
Zfp318 AAGAAGG A 17: 46,723,463 (GRCm39) probably benign Het
Other mutations in Eif4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Eif4a3 APN 11 119,184,387 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GAATCACACGTGGCTCTAAGG -3'
(R):5'- TGGTATGCACCCCATCAGTC -3'

Sequencing Primer
(F):5'- TGAGTCGGTCCCATCACATG -3'
(R):5'- GTATGCACCCCATCAGTCTCAAG -3'
Posted On 2016-07-22