Incidental Mutation 'R9539:Dph5'
ID 719798
Institutional Source Beutler Lab
Gene Symbol Dph5
Ensembl Gene ENSMUSG00000033554
Gene Name diphthamide biosynthesis 5
Synonyms 2410012M04Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R9539 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 115681785-115728010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115722305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 261 (P261Q)
Ref Sequence ENSEMBL: ENSMUSP00000043730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043342] [ENSMUST00000185098] [ENSMUST00000189799]
AlphaFold Q9CWQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000043342
AA Change: P261Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554
AA Change: P261Q

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 probably damaging
Transcript: ENSMUST00000189799
AA Change: P261Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554
AA Change: P261Q

DomainStartEndE-ValueType
Pfam:TP_methylase 1 241 7.7e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 G A 8: 41,827,584 (GRCm39) A13V probably benign Het
Bdh1 A G 16: 31,273,914 (GRCm39) T160A probably benign Het
Ccdc115 C T 1: 34,477,930 (GRCm39) probably null Het
Ccdc162 T A 10: 41,463,407 (GRCm39) E1445V possibly damaging Het
Ccdc88c T C 12: 100,901,993 (GRCm39) E1215G possibly damaging Het
Cep290 A T 10: 100,404,713 (GRCm39) E2358D probably damaging Het
Cog6 A G 3: 52,914,722 (GRCm39) S245P probably benign Het
Copb2 A T 9: 98,467,983 (GRCm39) probably null Het
Crtc1 T A 8: 70,892,115 (GRCm39) M32L probably benign Het
Dagla A C 19: 10,228,429 (GRCm39) probably null Het
Gpr137c T C 14: 45,516,187 (GRCm39) V307A probably damaging Het
Herpud2 A G 9: 25,041,936 (GRCm39) Y79H probably damaging Het
Ighg2b C T 12: 113,270,498 (GRCm39) V211I Het
Meioc C T 11: 102,565,506 (GRCm39) T318M probably damaging Het
Mterf4 T C 1: 93,229,188 (GRCm39) Y275C unknown Het
Mtfr1 T C 3: 19,271,422 (GRCm39) V198A probably benign Het
Ogfrl1 T A 1: 23,415,322 (GRCm39) I138F probably damaging Het
Pacc1 C T 1: 191,077,174 (GRCm39) Q166* probably null Het
Pf4 T A 5: 90,920,891 (GRCm39) V73D possibly damaging Het
Phldb1 T C 9: 44,627,482 (GRCm39) E321G probably damaging Het
Plch1 T C 3: 63,691,427 (GRCm39) S59G probably null Het
Pmfbp1 A G 8: 110,240,537 (GRCm39) I206M probably damaging Het
Ppp1r15a A G 7: 45,174,658 (GRCm39) V50A probably damaging Het
Ptprs T C 17: 56,725,715 (GRCm39) H1496R probably benign Het
Sardh T A 2: 27,134,298 (GRCm39) I73F probably damaging Het
Serpind1 G A 16: 17,157,638 (GRCm39) W278* probably null Het
Slit3 C T 11: 35,589,155 (GRCm39) Q1237* probably null Het
Smg1 T C 7: 117,744,976 (GRCm39) I3059V probably benign Het
Spart T A 3: 55,034,924 (GRCm39) W437R probably damaging Het
Spata6 C G 4: 111,685,526 (GRCm39) A477G possibly damaging Het
Suox A G 10: 128,507,383 (GRCm39) F215S probably damaging Het
Tcaf1 T C 6: 42,655,683 (GRCm39) N431S probably benign Het
Tgfbr3l G A 8: 4,299,679 (GRCm39) R154H probably damaging Het
Tll1 T C 8: 64,494,457 (GRCm39) K766R probably damaging Het
Tmem63b T A 17: 45,984,105 (GRCm39) K255* probably null Het
Tmem67 A T 4: 12,045,814 (GRCm39) L881H probably damaging Het
Tmem67 G T 4: 12,045,815 (GRCm39) L881I probably damaging Het
Tnrc6b A G 15: 80,760,544 (GRCm39) S84G probably damaging Het
Traf7 C T 17: 24,729,333 (GRCm39) V465M probably damaging Het
Ttn C T 2: 76,618,568 (GRCm39) V16239I probably damaging Het
Unc80 T C 1: 66,609,163 (GRCm39) probably null Het
Zc3h11a T C 1: 133,554,927 (GRCm39) E351G probably benign Het
Zfp942 T A 17: 22,148,014 (GRCm39) H205L probably damaging 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
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
R9646:Dph5 UTSW 3 115,708,692 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGTTGACGTGCTGCTCTC -3'
(R):5'- GCAGGAAACCAAACGCTGTC -3'

Sequencing Primer
(F):5'- TCTGTCTCCCTCCCCAAAAACAG -3'
(R):5'- CGCTGTCGTTCAACCTGC -3'
Posted On 2022-07-18