Incidental Mutation 'R9676:Eif4h'
ID 728338
Institutional Source Beutler Lab
Gene Symbol Eif4h
Ensembl Gene ENSMUSG00000040731
Gene Name eukaryotic translation initiation factor 4H
Synonyms Wbscr1, D5Ertd355e, E430026L18Rik, Eif4h, 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 134648726-134668263 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 134668242 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 benign
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 probably benign
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
  • 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: 71,207,905 (GRCm39) S534P possibly damaging Het
Abcb1a A T 5: 8,714,548 (GRCm39) K23I possibly damaging Het
Arhgef1 G A 7: 24,625,501 (GRCm39) G961E probably benign Het
Cand2 A G 6: 115,769,122 (GRCm39) D644G probably benign Het
Ciart A G 3: 95,786,214 (GRCm39) V287A probably benign Het
Cldn10 G T 14: 119,025,677 (GRCm39) V37L probably damaging Het
Clec16a C A 16: 10,559,823 (GRCm39) T1032K probably benign Het
Crhbp A T 13: 95,578,711 (GRCm39) Y144N probably damaging Het
Ddn A T 15: 98,703,252 (GRCm39) I680N possibly damaging Het
Dock4 TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC 12: 40,894,379 (GRCm39) probably benign Het
Dock4 CCGGTG CCGGTGACGGTG 12: 40,894,401 (GRCm39) probably benign Het
Dock4 GGTGCC GGTGCCTGTGCC 12: 40,894,397 (GRCm39) probably benign Het
Dock4 TGCCGG TGCCGGGGCCGG 12: 40,894,387 (GRCm39) probably benign Het
Dock7 T C 4: 98,904,922 (GRCm39) Y651C probably damaging Het
Ecel1 A T 1: 87,079,743 (GRCm39) F457I probably damaging Het
Focad T C 4: 88,273,682 (GRCm39) V1073A unknown Het
Gm9195 G A 14: 72,709,667 (GRCm39) P482S unknown Het
Ifi206 G A 1: 173,308,718 (GRCm39) T426I Het
Irag2 T G 6: 145,120,338 (GRCm39) W518G probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpar3 T C 3: 145,990,434 (GRCm39) C251R probably damaging Het
Lrrn4cl A G 19: 8,829,496 (GRCm39) D158G probably benign Het
Myo5b T A 18: 74,892,231 (GRCm39) N1632K probably benign Het
Neb T C 2: 52,060,558 (GRCm39) K6275E possibly damaging Het
Niban2 G A 2: 32,802,581 (GRCm39) V191I probably benign Het
Or1j10 A G 2: 36,266,848 (GRCm39) E20G probably benign Het
Or2t47 T A 11: 58,442,253 (GRCm39) M271L probably benign Het
Or4a70 A T 2: 89,323,780 (GRCm39) M292K probably damaging Het
Phactr3 G T 2: 177,925,837 (GRCm39) E371* probably null Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plagl1 T C 10: 13,003,955 (GRCm39) Y408H unknown Het
Pole A G 5: 110,443,431 (GRCm39) Q385R probably benign Het
Rps15a A T 7: 117,714,361 (GRCm39) V35D probably benign Het
Sh3rf2 C T 18: 42,282,860 (GRCm39) P505S probably benign Het
Srrm4 T C 5: 116,584,781 (GRCm39) probably benign Het
Tenm4 G T 7: 96,544,638 (GRCm39) R2255L probably damaging Het
Ttc29 A G 8: 79,060,384 (GRCm39) T435A probably benign Het
Vmn2r79 T C 7: 86,686,452 (GRCm39) V611A probably damaging Het
Zfp568 T C 7: 29,721,823 (GRCm39) V256A probably benign Het
Zfyve26 T C 12: 79,330,959 (GRCm39) K420R probably benign Het
Other mutations in Eif4h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Eif4h APN 5 134,654,393 (GRCm39) critical splice donor site probably null
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
Predicted Primers PCR Primer
(F):5'- TGATCTAACTTTCCGACCGAGG -3'
(R):5'- GCAAGCTAGCACACAATGG -3'

Sequencing Primer
(F):5'- AGCCTAACCGTCGCCAG -3'
(R):5'- CACACAATGGGCCTGGGAG -3'
Posted On 2022-10-06