Incidental Mutation 'R9676:Eif4h'
ID 728338
Institutional Source Beutler Lab
Gene Symbol Eif4h
Ensembl Gene ENSMUSG00000040731
Gene Name eukaryotic translation initiation factor 4H
Synonyms Eif4h, Wbscr1, E430026L18Rik, D5Ertd355e, Wscr1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9676 (G1)
Quality Score 156.008
Status Not validated
Chromosome 5
Chromosomal Location 134619721-134639490 bp(-) (GRCm38)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 134639388 bp (GRCm38)
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 benign
Transcript: ENSMUST00000036125
SMART Domains Protein: ENSMUSP00000048833
Gene: ENSMUSG00000040731

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 probably benign
Transcript: ENSMUST00000202622
SMART Domains Protein: ENSMUSP00000143910
Gene: ENSMUSG00000040731

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,161,131 S534P possibly damaging Het
Abcb1a A T 5: 8,664,548 K23I possibly damaging Het
Arhgef1 G A 7: 24,926,076 G961E probably benign Het
Cand2 A G 6: 115,792,161 D644G probably benign Het
Ciart A G 3: 95,878,902 V287A probably benign Het
Cldn10 G T 14: 118,788,265 V37L probably damaging Het
Clec16a C A 16: 10,741,959 T1032K probably benign Het
Crhbp A T 13: 95,442,203 Y144N probably damaging Het
Ddn A T 15: 98,805,371 I680N possibly damaging Het
Dock4 TGCCGG TGCCGGGGCCGG 12: 40,844,388 probably benign Het
Dock4 GGTGCC GGTGCCTGTGCC 12: 40,844,398 probably benign Het
Dock4 CCGGTG CCGGTGACGGTG 12: 40,844,402 probably benign Het
Dock7 T C 4: 99,016,685 Y651C probably damaging Het
Ecel1 A T 1: 87,152,021 F457I probably damaging Het
Fam129b G A 2: 32,912,569 V191I probably benign Het
Focad T C 4: 88,355,445 V1073A unknown Het
Gm9195 G A 14: 72,472,227 P482S unknown Het
Ifi206 G A 1: 173,481,152 T426I Het
Lpar3 T C 3: 146,284,679 C251R probably damaging Het
Lrmp T G 6: 145,174,612 W518G probably damaging Het
Lrrn4cl A G 19: 8,852,132 D158G probably benign Het
Myo5b T A 18: 74,759,160 N1632K probably benign Het
Neb T C 2: 52,170,546 K6275E possibly damaging Het
Olfr1242 A T 2: 89,493,436 M292K probably damaging Het
Olfr328 T A 11: 58,551,427 M271L probably benign Het
Olfr338 A G 2: 36,376,836 E20G probably benign Het
Phactr3 G T 2: 178,284,044 E371* probably null Het
Plagl1 T C 10: 13,128,211 Y408H unknown Het
Pole A G 5: 110,295,565 Q385R probably benign Het
Rps15a A T 7: 118,115,138 V35D probably benign Het
Sh3rf2 C T 18: 42,149,795 P505S probably benign Het
Srrm4 T C 5: 116,446,722 probably benign Het
Tenm4 G T 7: 96,895,431 R2255L probably damaging Het
Ttc29 A G 8: 78,333,755 T435A probably benign Het
Vmn2r79 T C 7: 87,037,244 V611A probably damaging Het
Zfp568 T C 7: 30,022,398 V256A probably benign Het
Zfyve26 T C 12: 79,284,185 K420R probably benign Het
Other mutations in Eif4h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Eif4h APN 5 134625539 critical splice donor site probably null
IGL02749:Eif4h APN 5 134639292 missense probably damaging 1.00
IGL02800:Eif4h APN 5 134627605 missense probably benign 0.08
R0184:Eif4h UTSW 5 134625375 missense possibly damaging 0.88
R1727:Eif4h UTSW 5 134639280 missense probably damaging 1.00
R2005:Eif4h UTSW 5 134627677 missense probably benign 0.33
R8725:Eif4h UTSW 5 134625539 critical splice donor site probably null
R8727:Eif4h UTSW 5 134625539 critical splice donor site probably null
R9118:Eif4h UTSW 5 134627627 missense probably benign 0.24
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-10-06