Incidental Mutation 'IGL01470:Eif4h'
ID 88259
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 # IGL01470
Quality Score
Status
Chromosome 5
Chromosomal Location 134648726-134668263 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 134654393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036125] [ENSMUST00000202622]
AlphaFold Q9WUK2
Predicted Effect probably null
Transcript: ENSMUST00000036125
SMART Domains Protein: ENSMUSP00000048833
Gene: ENSMUSG00000040731

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: ENSMUST00000202289
Predicted Effect probably null
Transcript: ENSMUST00000202622
SMART Domains Protein: ENSMUSP00000143910
Gene: ENSMUSG00000040731

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,382,414 (GRCm39) T1184A possibly damaging Het
A2ml1 A G 6: 128,557,375 (GRCm39) I106T probably damaging Het
Asic4 C T 1: 75,427,510 (GRCm39) A12V probably damaging Het
Cacna1d A T 14: 29,821,099 (GRCm39) V1139D probably damaging Het
Edc4 T C 8: 106,616,613 (GRCm39) probably benign Het
Exog C A 9: 119,291,592 (GRCm39) Q290K probably damaging Het
Fam83c A T 2: 155,676,728 (GRCm39) I14K possibly damaging Het
Fes A T 7: 80,033,021 (GRCm39) Y268N probably benign Het
Fhod1 A G 8: 106,056,281 (GRCm39) L1144P probably damaging Het
Frem3 C T 8: 81,340,944 (GRCm39) T1079I probably damaging Het
Gbp10 A G 5: 105,368,980 (GRCm39) probably benign Het
Herc1 T C 9: 66,404,918 (GRCm39) V4496A possibly damaging Het
Lamb1 A G 12: 31,350,261 (GRCm39) R729G possibly damaging Het
Lifr T A 15: 7,205,147 (GRCm39) C461* probably null Het
Lypd6 T C 2: 50,078,795 (GRCm39) V97A probably benign Het
Map3k5 A G 10: 19,993,933 (GRCm39) E973G possibly damaging Het
Mep1b A T 18: 21,230,524 (GRCm39) N692I probably benign Het
Mrpl15 A G 1: 4,846,754 (GRCm39) V274A probably damaging Het
Naaa A G 5: 92,411,507 (GRCm39) I264T probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4x11 T C 2: 89,868,162 (GRCm39) W300R possibly damaging Het
Or5b95 T C 19: 12,658,035 (GRCm39) S188P possibly damaging Het
Or8b38 A T 9: 37,973,300 (GRCm39) H228L possibly damaging Het
Or8k3 T C 2: 86,058,628 (GRCm39) N229S probably benign Het
Phc2 C T 4: 128,616,903 (GRCm39) T392I probably benign Het
Ptprg G A 14: 12,213,702 (GRCm38) W248* probably null Het
Pzp T A 6: 128,498,087 (GRCm39) E243D probably benign Het
Rbm33 T A 5: 28,592,846 (GRCm39) L542Q probably damaging Het
Recql4 G A 15: 76,593,144 (GRCm39) T229I probably benign Het
Ssbp3 T C 4: 106,894,855 (GRCm39) probably benign Het
Tfap2d A T 1: 19,218,620 (GRCm39) Q373L probably damaging Het
Timmdc1 A G 16: 38,338,902 (GRCm39) probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vps13c T C 9: 67,820,209 (GRCm39) probably benign Het
Zfp551 A G 7: 12,152,468 (GRCm39) probably null Het
Other mutations in Eif4h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02749:Eif4h APN 5 134,668,146 (GRCm39) missense probably damaging 1.00
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 2013-11-18