Incidental Mutation 'IGL00163:Eif3h'
ID925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3h
Ensembl Gene ENSMUSG00000022312
Gene Nameeukaryotic translation initiation factor 3, subunit H
SynonymsEif3s3, EIF3-gamma, 9430017H16Rik, EIF3-P40, 1110008A16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00163
Quality Score
Status
Chromosome15
Chromosomal Location51786558-51865523 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51786799 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 330 (I330F)
Ref Sequence ENSEMBL: ENSMUSP00000022925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022925]
Predicted Effect probably damaging
Transcript: ENSMUST00000022925
AA Change: I330F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022925
Gene: ENSMUSG00000022312
AA Change: I330F

DomainStartEndE-ValueType
low complexity region 7 32 N/A INTRINSIC
JAB_MPN 38 172 2.56e-43 SMART
low complexity region 270 291 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228625
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. Heterozygous mice exhibit enhanced variegation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,868,073 Q103* probably null Het
4933406P04Rik C A 10: 20,311,224 probably benign Het
Adgrg6 T C 10: 14,467,450 E251G probably damaging Het
AF529169 A T 9: 89,591,097 probably benign Het
Ago2 T C 15: 73,126,453 H292R probably benign Het
Akr1c6 T C 13: 4,448,978 probably benign Het
Arhgap24 T A 5: 102,860,399 M62K possibly damaging Het
Bicd1 A G 6: 149,550,390 H834R possibly damaging Het
Ccdc77 G T 6: 120,329,084 probably benign Het
Cdadc1 G T 14: 59,581,369 H337N probably damaging Het
Cep192 A G 18: 67,880,800 T2424A possibly damaging Het
Cep78 T C 19: 15,969,140 T443A probably benign Het
Chrna1 T A 2: 73,570,642 E181D probably benign Het
Dmxl1 G A 18: 49,851,467 D177N probably damaging Het
Fam184b T C 5: 45,539,749 E691G probably benign Het
Fastkd1 T A 2: 69,707,549 S230C probably benign Het
Gipc2 T C 3: 152,137,578 I141V probably damaging Het
Hsd17b2 A T 8: 117,758,671 D291V probably damaging Het
Itpr2 G A 6: 146,390,836 A420V possibly damaging Het
Jag1 C T 2: 137,086,032 probably null Het
Mmp1b T A 9: 7,387,946 Y16F probably benign Het
Muc4 G T 16: 32,754,090 R1322M probably benign Het
Myo9b T C 8: 71,348,735 I1179T probably benign Het
Nos1ap A G 1: 170,514,606 probably benign Het
Npc1l1 A T 11: 6,224,199 V702E probably damaging Het
Olfr1183 A T 2: 88,461,352 Y4F probably benign Het
Olfr1303 A C 2: 111,813,781 probably benign Het
Olfr1380 A C 11: 49,563,920 probably benign Het
Olfr270 G A 4: 52,971,058 V146M possibly damaging Het
Olfr50 A G 2: 36,794,000 I255V probably benign Het
Olfr699 T A 7: 106,790,589 R137S probably benign Het
Osmr A T 15: 6,844,445 L157* probably null Het
Pdzph1 T C 17: 58,974,796 T164A possibly damaging Het
Ptn T C 6: 36,743,489 K43E probably benign Het
Rbm45 T C 2: 76,378,707 V340A probably damaging Het
Rnf5 C T 17: 34,602,109 G83E probably damaging Het
Scin G T 12: 40,076,972 Q459K probably benign Het
Serpina5 C A 12: 104,105,220 A362D probably damaging Het
Tcrg-V3 G A 13: 19,243,211 S88N probably benign Het
Tex47 T A 5: 7,305,468 Y216* probably null Het
Tll1 A T 8: 64,016,136 H984Q probably benign Het
Tmem259 A G 10: 79,979,734 V81A probably benign Het
Tns3 A T 11: 8,451,066 S1077R probably benign Het
Ttc17 A G 2: 94,323,083 probably benign Het
Tubgcp2 T C 7: 140,031,022 T149A possibly damaging Het
Ulk1 G A 5: 110,787,872 A25V probably damaging Het
Vps13d T C 4: 145,168,540 E378G probably damaging Het
Vsig10 A G 5: 117,338,414 N311S probably benign Het
Zfp511 T C 7: 140,037,516 Y144H possibly damaging Het
Other mutations in Eif3h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Eif3h APN 15 51842485 missense probably damaging 0.99
R0389:Eif3h UTSW 15 51799264 missense probably damaging 0.98
R1832:Eif3h UTSW 15 51865436 missense possibly damaging 0.53
R1847:Eif3h UTSW 15 51797670 missense probably damaging 1.00
R1857:Eif3h UTSW 15 51799278 missense probably damaging 1.00
R4193:Eif3h UTSW 15 51799299 missense probably damaging 1.00
R6002:Eif3h UTSW 15 51799276 missense probably benign 0.02
R6437:Eif3h UTSW 15 51799264 missense probably benign 0.08
R6844:Eif3h UTSW 15 51865333 missense possibly damaging 0.87
R7276:Eif3h UTSW 15 51865321 splice site probably null
Posted On2011-07-12