Incidental Mutation 'IGL01315:Eif3h'
ID73822
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 #IGL01315
Quality Score
Status
Chromosome15
Chromosomal Location51786558-51865523 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51842485 bp
ZygosityHeterozygous
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]
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: 30,893,234 S409P probably benign Het
Ankdd1a T A 9: 65,508,702 H187L probably damaging Het
Ap2a1 A T 7: 44,916,289 D51E possibly damaging Het
Cog5 T A 12: 31,760,986 probably benign Het
Ell2 A G 13: 75,762,232 probably benign Het
Epha4 A G 1: 77,398,557 V551A probably benign Het
Gpc2 A G 5: 138,276,039 S354P probably benign Het
Gramd1a A G 7: 31,142,568 F140L probably damaging Het
Hnmt A G 2: 24,019,168 Y78H probably benign Het
Ighe T A 12: 113,271,352 H396L unknown Het
Krt83 A G 15: 101,486,967 probably benign Het
Mgat5b T C 11: 116,923,389 S40P probably damaging Het
Mov10 A G 3: 104,795,945 V876A probably damaging Het
Nbeal1 T C 1: 60,281,341 V2031A probably damaging Het
Nov T C 15: 54,749,260 S222P probably damaging Het
Ntm T A 9: 29,014,184 S26C probably damaging Het
Pcsk5 G A 19: 17,451,958 T1552I probably damaging Het
Pex1 A T 5: 3,609,975 D453V probably damaging Het
Pkd2l1 C T 19: 44,192,196 D27N probably benign Het
Plppr5 G T 3: 117,662,526 C232F probably damaging Het
Slc39a2 G T 14: 51,895,136 E179* probably null Het
Slc8a3 A G 12: 81,314,395 V550A probably damaging Het
Smc5 T A 19: 23,231,604 T626S probably benign Het
Tars A C 15: 11,389,734 Y363* probably null Het
Unc79 T C 12: 103,088,521 I906T possibly damaging Het
Ush2a C T 1: 188,633,614 P2222S possibly damaging Het
Wdr31 A C 4: 62,455,837 V306G probably damaging Het
Zdhhc1 C A 8: 105,472,998 R389S probably benign Het
Other mutations in Eif3h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Eif3h APN 15 51786799 missense probably damaging 0.96
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
R7726:Eif3h UTSW 15 51786823 missense possibly damaging 0.89
Z1177:Eif3h UTSW 15 51865438 missense probably damaging 1.00
Posted On2013-10-07