Incidental Mutation 'IGL02441:Dph5'
ID 293966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dph5
Ensembl Gene ENSMUSG00000033554
Gene Name diphthamide biosynthesis 5
Synonyms 2410012M04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # IGL02441
Quality Score
Status
Chromosome 3
Chromosomal Location 115681785-115728010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 115720390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 192 (Q192P)
Ref Sequence ENSEMBL: ENSMUSP00000140958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043342] [ENSMUST00000185098] [ENSMUST00000189799]
AlphaFold Q9CWQ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000043342
AA Change: Q192P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554
AA Change: Q192P

DomainStartEndE-ValueType
Pfam:TP_methylase 1 241 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185098
SMART Domains Protein: ENSMUSP00000139249
Gene: ENSMUSG00000033554

DomainStartEndE-ValueType
Pfam:TP_methylase 1 177 4.7e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000189799
AA Change: Q192P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554
AA Change: Q192P

DomainStartEndE-ValueType
Pfam:TP_methylase 1 241 7.7e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 C T 7: 97,029,504 (GRCm39) R179C probably benign Het
Als2 A G 1: 59,254,631 (GRCm39) M242T probably damaging Het
Atad1 C T 19: 32,684,348 (GRCm39) V17I probably benign Het
Bag4 A G 8: 26,258,136 (GRCm39) V397A probably damaging Het
Brd7 A G 8: 89,070,218 (GRCm39) V396A probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr4 T A 9: 107,870,466 (GRCm39) I123N possibly damaging Het
Cep68 A G 11: 20,189,186 (GRCm39) F609L probably benign Het
Clec3b C A 9: 122,980,178 (GRCm39) P24T possibly damaging Het
Ctsg T A 14: 56,339,869 (GRCm39) T9S probably benign Het
Dalrd3 A T 9: 108,448,725 (GRCm39) probably benign Het
Dock6 A T 9: 21,753,222 (GRCm39) V286E possibly damaging Het
Dpep2 G A 8: 106,711,723 (GRCm39) A568V probably benign Het
Eppin T A 2: 164,433,698 (GRCm39) R37* probably null Het
Esyt1 A G 10: 128,348,293 (GRCm39) L865P possibly damaging Het
Exoc6b A G 6: 84,981,990 (GRCm39) L102P probably damaging Het
Foxo6 A G 4: 120,125,232 (GRCm39) I521T possibly damaging Het
Guca1a A T 17: 47,705,578 (GRCm39) probably benign Het
Hpx A G 7: 105,241,430 (GRCm39) F327S probably damaging Het
Hspa12b A G 2: 130,980,515 (GRCm39) M145V probably null Het
Hspa4 A T 11: 53,161,809 (GRCm39) S448T probably benign Het
Kbtbd6 T C 14: 79,690,759 (GRCm39) Y422H probably benign Het
Lama4 A T 10: 38,937,441 (GRCm39) D677V probably benign Het
Ldb1 C T 19: 46,024,195 (GRCm39) E111K probably damaging Het
Macf1 A G 4: 123,281,029 (GRCm39) S3823P probably damaging Het
Man1a2 G A 3: 100,499,189 (GRCm39) T415I probably benign Het
Map3k2 T C 18: 32,333,099 (GRCm39) probably benign Het
Morn5 T A 2: 35,945,038 (GRCm39) Y87* probably null Het
Mpp3 T C 11: 101,900,501 (GRCm39) D326G probably benign Het
Mrgprx1 T C 7: 47,671,336 (GRCm39) H137R probably benign Het
Nav2 C A 7: 49,102,260 (GRCm39) P292T probably damaging Het
Nlrp2 C A 7: 5,338,566 (GRCm39) probably null Het
Noxo1 G A 17: 24,918,030 (GRCm39) S112N probably damaging Het
Nudt9 G T 5: 104,212,885 (GRCm39) K319N probably benign Het
Or8b38 A T 9: 37,973,233 (GRCm39) I206L probably benign Het
Osbpl7 C A 11: 96,958,528 (GRCm39) Q728K probably damaging Het
Pcsk1 A T 13: 75,280,282 (GRCm39) E702D probably benign Het
Piezo2 T C 18: 63,205,933 (GRCm39) D1492G probably damaging Het
Plekhg1 A G 10: 3,908,103 (GRCm39) K1007E possibly damaging Het
Ppp6r3 G A 19: 3,514,693 (GRCm39) P141S probably benign Het
Prrt3 T C 6: 113,473,977 (GRCm39) T354A probably damaging Het
Ptk2 C A 15: 73,192,675 (GRCm39) W181L probably benign Het
Rif1 T A 2: 51,995,527 (GRCm39) H915Q probably benign Het
Selenbp2 G T 3: 94,611,371 (GRCm39) V361L probably benign Het
Slamf7 A G 1: 171,468,625 (GRCm39) L89P probably damaging Het
Slc6a21 G A 7: 44,937,505 (GRCm39) V599M probably damaging Het
Sltm G T 9: 70,494,467 (GRCm39) S921I probably damaging Het
Smc4 C A 3: 68,913,544 (GRCm39) A44E probably damaging Het
Tdrd5 A T 1: 156,087,513 (GRCm39) probably benign Het
Tead2 T A 7: 44,866,845 (GRCm39) I68N probably damaging Het
Tnks1bp1 T A 2: 84,902,143 (GRCm39) S1680T probably damaging Het
Topbp1 T C 9: 103,197,438 (GRCm39) V386A possibly damaging Het
Tpx2 C A 2: 152,724,207 (GRCm39) P328T possibly damaging Het
Ttn T A 2: 76,576,332 (GRCm39) I24854F probably damaging Het
Zbtb11 G A 16: 55,794,552 (GRCm39) R43H possibly damaging Het
Zfp609 A G 9: 65,610,611 (GRCm39) L784S possibly damaging Het
Zfp703 T C 8: 27,470,036 (GRCm39) S567P probably damaging Het
Zfp750 A G 11: 121,404,455 (GRCm39) I140T probably benign Het
Other mutations in Dph5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Dph5 APN 3 115,693,362 (GRCm39) missense probably damaging 1.00
IGL02852:Dph5 APN 3 115,722,320 (GRCm39) missense possibly damaging 0.95
R0200:Dph5 UTSW 3 115,722,352 (GRCm39) missense probably benign 0.03
R0463:Dph5 UTSW 3 115,722,352 (GRCm39) missense probably benign 0.03
R0466:Dph5 UTSW 3 115,722,359 (GRCm39) missense probably benign 0.02
R0707:Dph5 UTSW 3 115,708,782 (GRCm39) missense probably benign 0.00
R4542:Dph5 UTSW 3 115,722,274 (GRCm39) missense probably damaging 1.00
R4601:Dph5 UTSW 3 115,693,426 (GRCm39) missense possibly damaging 0.93
R4932:Dph5 UTSW 3 115,693,456 (GRCm39) missense probably benign
R4950:Dph5 UTSW 3 115,722,292 (GRCm39) missense probably benign 0.33
R6504:Dph5 UTSW 3 115,720,452 (GRCm39) splice site probably null
R6662:Dph5 UTSW 3 115,722,205 (GRCm39) missense probably benign 0.00
R7431:Dph5 UTSW 3 115,686,381 (GRCm39) missense possibly damaging 0.67
R7565:Dph5 UTSW 3 115,686,446 (GRCm39) missense probably benign
R7822:Dph5 UTSW 3 115,693,399 (GRCm39) nonsense probably null
R9485:Dph5 UTSW 3 115,681,977 (GRCm39) intron probably benign
R9539:Dph5 UTSW 3 115,722,305 (GRCm39) missense probably damaging 1.00
R9646:Dph5 UTSW 3 115,708,692 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16