Incidental Mutation 'R6002:Eif3h'
ID478439
Institutional Source Beutler Lab
Gene Symbol Eif3h
Ensembl Gene ENSMUSG00000022312
Gene Nameeukaryotic translation initiation factor 3, subunit H
SynonymsEif3s3, EIF3-gamma, 9430017H16Rik, EIF3-P40, 1110008A16Rik
MMRRC Submission 044181-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6002 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location51786558-51865523 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 51799276 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 125 (Y125H)
Ref Sequence ENSEMBL: ENSMUSP00000022925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022925]
Predicted Effect probably benign
Transcript: ENSMUST00000022925
AA Change: Y125H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022925
Gene: ENSMUSG00000022312
AA Change: Y125H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228625
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.6%
  • 20x: 88.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,662,424 probably null Het
Adam28 A G 14: 68,642,062 L179P probably benign Het
Amer2 G T 14: 60,378,782 G142V possibly damaging Het
Ap2a1 A G 7: 44,904,395 probably null Het
Arhgap32 A G 9: 32,256,979 T753A probably benign Het
Capsl A G 15: 9,461,788 D90G probably damaging Het
Cd96 A T 16: 46,117,986 S39T possibly damaging Het
Cdx2 T A 5: 147,303,234 T211S probably damaging Het
Chd9 A G 8: 90,978,887 Y251C probably damaging Het
Chrna6 C T 8: 27,406,746 V368I probably benign Het
Coro1a G T 7: 126,703,080 Q32K probably benign Het
Cps1 T A 1: 67,172,755 V694E possibly damaging Het
Fbxw22 A C 9: 109,381,682 Y420* probably null Het
Fgf21 T C 7: 45,615,227 Y27C probably benign Het
Gm7356 A G 17: 14,000,739 S343P probably benign Het
Hmcn2 A G 2: 31,420,309 D3305G probably damaging Het
Kdm4c T A 4: 74,404,969 F1046Y possibly damaging Het
Klk1b27 T A 7: 44,055,690 W94R probably benign Het
Nwd2 A T 5: 63,804,800 M576L probably benign Het
Olfr1484 T C 19: 13,585,417 probably benign Het
Olfr159 T C 4: 43,770,063 H316R probably benign Het
Olfr463 A T 11: 87,893,807 V39E probably damaging Het
Olfr474 A G 7: 107,955,169 H176R probably damaging Het
Pappa T A 4: 65,297,408 V1184D probably damaging Het
Pcyox1 T A 6: 86,392,182 M152L probably benign Het
Pdha2 A G 3: 141,211,696 V17A probably benign Het
Pi4k2b A T 5: 52,756,905 I328L probably benign Het
Ppp1r13l T C 7: 19,377,970 F814L probably benign Het
Prag1 A T 8: 36,104,183 H640L probably benign Het
Prl5a1 T C 13: 28,145,482 I48T probably benign Het
Rabgap1 A G 2: 37,473,602 T132A probably benign Het
Sec31b T C 19: 44,535,764 I146V probably benign Het
Slc30a9 A G 5: 67,342,117 Y306C probably damaging Het
Stat3 A G 11: 100,903,743 S247P probably benign Het
Tbc1d1 C A 5: 64,333,433 L747I probably damaging Het
Tbc1d24 A T 17: 24,183,787 M1K probably null Het
Ttc30a1 T C 2: 75,980,777 T321A possibly damaging Het
Vezt A C 10: 94,000,474 V104G probably damaging Het
Zbtb41 A G 1: 139,423,659 D170G probably damaging Het
Zswim2 C A 2: 83,915,688 D469Y probably damaging Het
Other mutations in Eif3h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Eif3h APN 15 51786799 missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- CTGCTCCAAGAGGCAGAAAG -3'
(R):5'- GAAGTAGGGACAACAGTTGATAATTCC -3'

Sequencing Primer
(F):5'- CTCCAAGAGGCAGAAAGACAGAAAG -3'
(R):5'- CCAGTACAGTATCAGATGGAG -3'
Posted On2017-06-26