Incidental Mutation 'R9118:Eif4h'
ID 692637
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 068921-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9118 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 134648726-134668263 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 134656481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 70 (V70L)
Ref Sequence ENSEMBL: ENSMUSP00000143910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036125] [ENSMUST00000202622]
AlphaFold Q9WUK2
Predicted Effect probably benign
Transcript: ENSMUST00000036125
AA Change: V70L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048833
Gene: ENSMUSG00000040731
AA Change: V70L

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
AA Change: V70L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143910
Gene: ENSMUSG00000040731
AA Change: V70L

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
Meta Mutation Damage Score 0.4286 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (31/32)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A T 9: 118,985,957 (GRCm39) S36T probably benign Het
Aifm2 C T 10: 61,561,681 (GRCm39) T9I probably benign Het
Ano5 T A 7: 51,220,122 (GRCm39) F421I probably damaging Het
Cacna1a G A 8: 85,262,715 (GRCm39) V372M probably damaging Het
Col6a5 A T 9: 105,755,853 (GRCm39) probably benign Het
Colgalt2 A G 1: 152,378,906 (GRCm39) probably benign Het
Crybg1 T C 10: 43,879,925 (GRCm39) D421G possibly damaging Het
Dgat1 A T 15: 76,386,718 (GRCm39) W440R probably damaging Het
Dnah5 TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC TGTC 15: 28,401,994 (GRCm39) probably null Het
Dnai7 A G 6: 145,120,900 (GRCm39) Y691H probably damaging Het
Dnai7 A G 6: 145,120,971 (GRCm39) L667P probably damaging Het
Gabrd C A 4: 155,470,475 (GRCm39) V326L possibly damaging Het
Krt1c C T 15: 101,722,976 (GRCm39) E341K probably damaging Het
Lrp4 C T 2: 91,308,927 (GRCm39) A538V possibly damaging Het
Mfap3l G A 8: 61,109,716 (GRCm39) V31M probably damaging Het
Mroh2b T C 15: 4,991,573 (GRCm39) I1557T possibly damaging Het
Or2y16 A T 11: 49,335,409 (GRCm39) I244F probably benign Het
Or5an11 T C 19: 12,246,263 (GRCm39) V223A probably benign Het
Pcyt2 G A 11: 120,503,899 (GRCm39) P183L Het
Rapsn A G 2: 90,875,378 (GRCm39) H387R probably damaging Het
Scaf11 G A 15: 96,319,886 (GRCm39) A259V probably benign Het
Septin9 A G 11: 117,157,398 (GRCm39) D11G probably benign Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Slc7a2 T A 8: 41,351,994 (GRCm39) I19N possibly damaging Het
Synpr T C 14: 13,608,673 (GRCm38) V171A probably damaging Het
Tmed7 T C 18: 46,726,338 (GRCm39) N139S probably benign Het
Tnks1bp1 G T 2: 84,893,720 (GRCm39) G1216W probably damaging Het
Ush2a T A 1: 188,386,839 (GRCm39) V2338E probably damaging Het
Vmn1r152 A T 7: 22,222,992 (GRCm39) I201F Het
Vmn2r106 C A 17: 20,505,667 (GRCm39) W9L probably benign Het
Vmn2r9 A G 5: 108,990,937 (GRCm39) V808A probably damaging Het
Zfp646 A G 7: 127,480,810 (GRCm39) T996A Het
Zng1 T C 19: 24,920,048 (GRCm39) R190G probably damaging 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
R9676:Eif4h UTSW 5 134,668,242 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GCAAAATAGTTTCCCCAAGGG -3'
(R):5'- AGGAGCCCTAAACTCTTCTGC -3'

Sequencing Primer
(F):5'- TCCCCAGAGCTGAGTTAAAGG -3'
(R):5'- GGAGCCCTAAACTCTTCTGCATCTC -3'
Posted On 2021-12-30