Incidental Mutation 'IGL02852:Dph5'
ID 361918
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 # IGL02852
Quality Score
Status
Chromosome 3
Chromosomal Location 115681785-115728010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115722320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 266 (M266K)
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: M266K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554
AA Change: M266K

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: M266K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554
AA Change: M266K

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar1 A T 8: 112,441,979 (GRCm39) L287* probably null Het
Birc2 A G 9: 7,854,484 (GRCm39) I402T probably damaging Het
Btrc T A 19: 45,501,095 (GRCm39) L153* probably null Het
C2cd3 T C 7: 100,079,396 (GRCm39) F1245L probably damaging Het
Cabp7 C T 11: 4,688,912 (GRCm39) R186H probably damaging Het
Cdk5r2 T C 1: 74,895,298 (GRCm39) S348P probably benign Het
Cfhr4 T C 1: 139,701,754 (GRCm39) Y120C probably damaging Het
Clca3a2 T C 3: 144,512,104 (GRCm39) D544G probably damaging Het
Col6a6 A C 9: 105,661,272 (GRCm39) I279S probably damaging Het
Csmd1 T A 8: 15,945,728 (GRCm39) T3562S probably damaging Het
Dgkd T C 1: 87,863,135 (GRCm39) S61P probably damaging Het
Gm14226 G A 2: 154,866,841 (GRCm39) S266N possibly damaging Het
Gm28047 A G 15: 102,446,653 (GRCm39) V400A possibly damaging Het
Gucy1a2 A G 9: 3,759,691 (GRCm39) D499G probably benign Het
Hoxb7 C T 11: 96,180,320 (GRCm39) T173M possibly damaging Het
Kcnn3 T A 3: 89,516,923 (GRCm39) I444N probably damaging Het
Kif1b A G 4: 149,375,785 (GRCm39) I27T probably damaging Het
Krtap8-1 A G 16: 89,284,753 (GRCm39) Y15H probably benign Het
Myo18b C T 5: 112,863,377 (GRCm39) V2154I probably benign Het
Pcdhb3 A G 18: 37,435,150 (GRCm39) D372G probably damaging Het
Pfkp G T 13: 6,655,059 (GRCm39) P340Q possibly damaging Het
Plcd3 C T 11: 102,964,631 (GRCm39) R580Q probably damaging Het
Pou5f2 G A 13: 78,173,178 (GRCm39) R40Q probably benign Het
Ppara G T 15: 85,682,079 (GRCm39) M258I probably benign Het
Proc A G 18: 32,258,208 (GRCm39) S246P probably damaging Het
Ptpn21 T C 12: 98,681,454 (GRCm39) probably null Het
Ripor2 T C 13: 24,879,681 (GRCm39) F383S probably damaging Het
Rnf39 T C 17: 37,256,094 (GRCm39) probably benign Het
Sema6c C A 3: 95,077,295 (GRCm39) probably benign Het
Slc16a5 A G 11: 115,360,405 (GRCm39) E196G probably benign Het
Slco1c1 T A 6: 141,493,550 (GRCm39) L313* probably null Het
Slit2 T C 5: 48,402,014 (GRCm39) F789S probably damaging Het
Spta1 A G 1: 174,071,676 (GRCm39) M2219V probably benign Het
Sqle A T 15: 59,197,920 (GRCm39) H380L probably damaging Het
Tek T C 4: 94,743,561 (GRCm39) Y859H probably damaging Het
Trcg1 A T 9: 57,148,595 (GRCm39) T56S possibly damaging Het
Ttc23 T A 7: 67,316,903 (GRCm39) probably benign Het
Ttn A G 2: 76,774,648 (GRCm39) probably benign Het
Uba1y C T Y: 828,841 (GRCm39) R550* probably null Het
Ubqln4 T C 3: 88,462,778 (GRCm39) V81A probably damaging Het
Ugt2b38 C T 5: 87,559,600 (GRCm39) E431K probably benign Het
Vmn1r85 T G 7: 12,819,010 (GRCm39) I45L possibly damaging Het
Vmn2r68 T G 7: 84,882,595 (GRCm39) S386R probably damaging Het
Washc4 A G 10: 83,419,173 (GRCm39) T902A possibly damaging Het
Zc3h15 G A 2: 83,475,015 (GRCm39) A7T possibly damaging Het
Zdhhc19 A C 16: 32,316,460 (GRCm39) T72P probably damaging Het
Zfp729a A T 13: 67,768,070 (GRCm39) S720T possibly damaging Het
Zfp729b T C 13: 67,740,942 (GRCm39) K441R probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Dph5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Dph5 APN 3 115,693,362 (GRCm39) missense probably damaging 1.00
IGL02441:Dph5 APN 3 115,720,390 (GRCm39) missense possibly damaging 0.88
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 2015-12-18