Incidental Mutation 'IGL02749:Eif4h'
ID 306185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4h
Ensembl Gene ENSMUSG00000040731
Gene Name eukaryotic translation initiation factor 4H
Synonyms Wbscr1, D5Ertd355e, E430026L18Rik, Eif4h, Wscr1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02749
Quality Score
Status
Chromosome 5
Chromosomal Location 134648726-134668263 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134668146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 3 (D3G)
Ref Sequence ENSEMBL: ENSMUSP00000143910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036125] [ENSMUST00000202622]
AlphaFold Q9WUK2
Predicted Effect probably damaging
Transcript: ENSMUST00000036125
AA Change: D3G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048833
Gene: ENSMUSG00000040731
AA Change: D3G

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
RRM 43 114 1.46e-16 SMART
low complexity region 136 147 N/A INTRINSIC
low complexity region 164 179 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202289
Predicted Effect probably damaging
Transcript: ENSMUST00000202622
AA Change: D3G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143910
Gene: ENSMUSG00000040731
AA Change: D3G

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
RRM 43 114 1.46e-16 SMART
low complexity region 136 147 N/A INTRINSIC
low complexity region 164 179 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes eukaryotic translation initiation factor 4H (eIF4H) that plays a critical role in the process of protein synthesis. The encoded protein is an RNA-binding protein that, in concert with other translation initiation factors, helps unwind the 5' cap-proximal region of mRNA to prepare it for ribosomal attachment. Mice lacking the encoded protein displayed growth retardation with a significant reduction of body weight, a smaller brain volume and altered brain morphology. Behaviorally, mice lacking the encoded protein exhibit severe impairments of fear-related associative learning and memory formation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit growth defects and impaired cognitive behaviors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230104M06Rik T C 12: 112,963,795 (GRCm39) D61G probably benign Het
Albfm1 T C 5: 90,719,624 (GRCm39) V240A possibly damaging Het
Ascc2 G A 11: 4,590,481 (GRCm39) probably null Het
Atrn C T 2: 130,812,064 (GRCm39) Q670* probably null Het
Atrn G T 2: 130,789,654 (GRCm39) probably benign Het
Calr A C 8: 85,571,117 (GRCm39) W236G probably damaging Het
Camk2g T A 14: 20,816,084 (GRCm39) probably null Het
Cd101 G T 3: 100,927,715 (GRCm39) T122K probably damaging Het
Cert1 T A 13: 96,765,643 (GRCm39) N469K possibly damaging Het
Cryl1 T C 14: 57,541,181 (GRCm39) T168A probably benign Het
Diaph3 A G 14: 87,156,261 (GRCm39) I684T probably damaging Het
Ednrb A T 14: 104,060,495 (GRCm39) M266K possibly damaging Het
Eny2 C T 15: 44,293,031 (GRCm39) R28C possibly damaging Het
Epsti1 A G 14: 78,177,363 (GRCm39) E181G probably damaging Het
Ezh2 A G 6: 47,510,698 (GRCm39) F598S probably damaging Het
Fat3 G T 9: 15,918,007 (GRCm39) T1472K possibly damaging Het
Gabra4 T A 5: 71,795,490 (GRCm39) I262F probably benign Het
Gpat4 A T 8: 23,670,886 (GRCm39) Y109N probably damaging Het
Gpsm1 C T 2: 26,229,687 (GRCm39) T36I probably damaging Het
Hikeshi C T 7: 89,585,097 (GRCm39) V36I possibly damaging Het
Hip1 T C 5: 135,473,605 (GRCm39) M238V probably benign Het
Hnrnpll A T 17: 80,369,420 (GRCm39) M1K probably null Het
Irx2 G A 13: 72,779,429 (GRCm39) D238N probably damaging Het
Kcnip4 T A 5: 48,567,127 (GRCm39) probably benign Het
Lair1 G A 7: 4,031,900 (GRCm39) T69I possibly damaging Het
Lamc1 A G 1: 153,125,599 (GRCm39) I558T possibly damaging Het
Map4k5 C T 12: 69,862,580 (GRCm39) E639K probably benign Het
Mc4r A G 18: 66,992,733 (GRCm39) S127P probably damaging Het
Mmp23 A G 4: 155,735,989 (GRCm39) M221T possibly damaging Het
Mre11a T C 9: 14,737,887 (GRCm39) S587P possibly damaging Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Nek9 C A 12: 85,352,281 (GRCm39) A861S probably benign Het
Nup155 T A 15: 8,163,560 (GRCm39) Y576N probably damaging Het
Or5w10 C T 2: 87,375,001 (GRCm39) V296M probably damaging Het
Pcca A T 14: 122,771,800 (GRCm39) T8S probably benign Het
Pcdh15 A G 10: 74,466,900 (GRCm39) D1573G probably benign Het
Pdpr T A 8: 111,844,722 (GRCm39) V373E probably benign Het
Pdzph1 A T 17: 59,239,478 (GRCm39) L950Q possibly damaging Het
Pira13 A G 7: 3,825,624 (GRCm39) I415T probably damaging Het
Prss35 A C 9: 86,638,297 (GRCm39) K356Q probably damaging Het
Psg22 A T 7: 18,456,944 (GRCm39) T237S possibly damaging Het
Rdh13 A G 7: 4,430,703 (GRCm39) Y252H probably damaging Het
Sema3d T C 5: 12,613,112 (GRCm39) probably benign Het
Slc35b2 G A 17: 45,877,493 (GRCm39) V207I probably benign Het
Sparcl1 T G 5: 104,240,746 (GRCm39) E226A possibly damaging Het
Srms C A 2: 180,851,302 (GRCm39) A155S possibly damaging Het
Tas2r107 A T 6: 131,636,917 (GRCm39) I44N probably damaging Het
Tmem236 C T 2: 14,224,132 (GRCm39) T307M probably damaging Het
Ush2a C T 1: 188,679,155 (GRCm39) P4788S probably damaging Het
Vmn1r170 A T 7: 23,305,716 (GRCm39) L39F probably benign Het
Vmn2r90 T A 17: 17,947,122 (GRCm39) *121R probably null Het
Other mutations in Eif4h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Eif4h APN 5 134,654,393 (GRCm39) critical splice donor site probably null
IGL02800:Eif4h APN 5 134,656,459 (GRCm39) missense probably benign 0.08
R0184:Eif4h UTSW 5 134,654,229 (GRCm39) missense possibly damaging 0.88
R1727:Eif4h UTSW 5 134,668,134 (GRCm39) missense probably damaging 1.00
R2005:Eif4h UTSW 5 134,656,531 (GRCm39) missense probably benign 0.33
R8725:Eif4h UTSW 5 134,654,393 (GRCm39) critical splice donor site probably null
R8727:Eif4h UTSW 5 134,654,393 (GRCm39) critical splice donor site probably null
R9118:Eif4h UTSW 5 134,656,481 (GRCm39) missense probably benign 0.24
R9676:Eif4h UTSW 5 134,668,242 (GRCm39) start gained probably benign
Posted On 2015-04-16