Incidental Mutation 'IGL01315:Eif3h'
ID 73822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3h
Ensembl Gene ENSMUSG00000022312
Gene Name eukaryotic translation initiation factor 3, subunit H
Synonyms 9430017H16Rik, EIF3-gamma, EIF3-P40, 1110008A16Rik, Eif3s3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01315
Quality Score
Status
Chromosome 15
Chromosomal Location 51649956-51728901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51705881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Ref Sequence ENSEMBL: ENSMUSP00000022925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022925]
AlphaFold Q91WK2
Predicted Effect probably damaging
Transcript: ENSMUST00000022925
AA Change: D91G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022925
Gene: ENSMUSG00000022312
AA Change: D91G

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: ENSMUST00000228583
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 T C 5: 31,050,578 (GRCm39) S409P probably benign Het
Ankdd1a T A 9: 65,415,984 (GRCm39) H187L probably damaging Het
Ap2a1 A T 7: 44,565,713 (GRCm39) D51E possibly damaging Het
Ccn3 T C 15: 54,612,656 (GRCm39) S222P probably damaging Het
Cog5 T A 12: 31,810,985 (GRCm39) probably benign Het
Ell2 A G 13: 75,910,351 (GRCm39) probably benign Het
Epha4 A G 1: 77,375,194 (GRCm39) V551A probably benign Het
Gpc2 A G 5: 138,274,301 (GRCm39) S354P probably benign Het
Gramd1a A G 7: 30,841,993 (GRCm39) F140L probably damaging Het
Hnmt A G 2: 23,909,180 (GRCm39) Y78H probably benign Het
Ighe T A 12: 113,234,972 (GRCm39) H396L unknown Het
Krt87 A G 15: 101,384,848 (GRCm39) probably benign Het
Mgat5b T C 11: 116,814,215 (GRCm39) S40P probably damaging Het
Mov10 A G 3: 104,703,261 (GRCm39) V876A probably damaging Het
Nbeal1 T C 1: 60,320,500 (GRCm39) V2031A probably damaging Het
Ntm T A 9: 28,925,480 (GRCm39) S26C probably damaging Het
Pcsk5 G A 19: 17,429,322 (GRCm39) T1552I probably damaging Het
Pex1 A T 5: 3,659,975 (GRCm39) D453V probably damaging Het
Pkd2l1 C T 19: 44,180,635 (GRCm39) D27N probably benign Het
Plppr5 G T 3: 117,456,175 (GRCm39) C232F probably damaging Het
Slc39a2 G T 14: 52,132,593 (GRCm39) E179* probably null Het
Slc8a3 A G 12: 81,361,169 (GRCm39) V550A probably damaging Het
Smc5 T A 19: 23,208,968 (GRCm39) T626S probably benign Het
Tars1 A C 15: 11,389,820 (GRCm39) Y363* probably null Het
Unc79 T C 12: 103,054,780 (GRCm39) I906T possibly damaging Het
Ush2a C T 1: 188,365,811 (GRCm39) P2222S possibly damaging Het
Wdr31 A C 4: 62,374,074 (GRCm39) V306G probably damaging Het
Zdhhc1 C A 8: 106,199,630 (GRCm39) R389S probably benign Het
Other mutations in Eif3h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Eif3h APN 15 51,650,195 (GRCm39) missense probably damaging 0.96
R0389:Eif3h UTSW 15 51,662,660 (GRCm39) missense probably damaging 0.98
R1832:Eif3h UTSW 15 51,728,832 (GRCm39) missense possibly damaging 0.53
R1847:Eif3h UTSW 15 51,661,066 (GRCm39) missense probably damaging 1.00
R1857:Eif3h UTSW 15 51,662,674 (GRCm39) missense probably damaging 1.00
R4193:Eif3h UTSW 15 51,662,695 (GRCm39) missense probably damaging 1.00
R6002:Eif3h UTSW 15 51,662,672 (GRCm39) missense probably benign 0.02
R6437:Eif3h UTSW 15 51,662,660 (GRCm39) missense probably benign 0.08
R6844:Eif3h UTSW 15 51,728,729 (GRCm39) missense possibly damaging 0.87
R7276:Eif3h UTSW 15 51,728,717 (GRCm39) splice site probably null
R7726:Eif3h UTSW 15 51,650,219 (GRCm39) missense possibly damaging 0.89
Z1177:Eif3h UTSW 15 51,728,834 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07