Incidental Mutation 'IGL02749:Eif4h'
ID306185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4h
Ensembl Gene ENSMUSG00000040731
Gene Nameeukaryotic translation initiation factor 4H
SynonymsEif4h, Wbscr1, E430026L18Rik, D5Ertd355e, Wscr1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02749
Quality Score
Status
Chromosome5
Chromosomal Location134619721-134639490 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134639292 bp
ZygosityHeterozygous
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]
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
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Ascc2 G A 11: 4,640,481 probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Col4a3bp T A 13: 96,629,135 N469K possibly damaging Het
Cryl1 T C 14: 57,303,724 T168A probably benign Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eny2 C T 15: 44,429,635 R28C possibly damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Gpsm1 C T 2: 26,339,675 T36I probably damaging Het
Hikeshi C T 7: 89,935,889 V36I possibly damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Kcnip4 T A 5: 48,409,785 probably benign Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdpr T A 8: 111,118,090 V373E probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Rdh13 A G 7: 4,427,704 Y252H probably damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Eif4h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Eif4h APN 5 134625539 critical splice donor site probably null
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
Posted On2015-04-16