Incidental Mutation 'R0466:Dph5'
ID 41624
Institutional Source Beutler Lab
Gene Symbol Dph5
Ensembl Gene ENSMUSG00000033554
Gene Name diphthamide biosynthesis 5
Synonyms 2410012M04Rik
MMRRC Submission 038666-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R0466 (G1)
Quality Score 214
Status Validated
Chromosome 3
Chromosomal Location 115681785-115728010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 115722359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 279 (D279A)
Ref Sequence ENSEMBL: ENSMUSP00000140958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043342] [ENSMUST00000185098] [ENSMUST00000189799]
AlphaFold Q9CWQ0
Predicted Effect probably benign
Transcript: ENSMUST00000043342
AA Change: D279A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554
AA Change: D279A

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 benign
Transcript: ENSMUST00000189799
AA Change: D279A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554
AA Change: D279A

DomainStartEndE-ValueType
Pfam:TP_methylase 1 241 7.7e-22 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 97% (63/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,887,321 (GRCm39) Y373C probably benign Het
Abca12 T G 1: 71,341,822 (GRCm39) Q1046H probably damaging Het
Adgrv1 A G 13: 81,714,415 (GRCm39) F956S probably benign Het
Alk A G 17: 72,212,152 (GRCm39) V797A possibly damaging Het
Ascl2 A G 7: 142,522,217 (GRCm39) L77P probably benign Het
Aspm A T 1: 139,405,639 (GRCm39) I1509F probably damaging Het
AY358078 A T 14: 52,043,089 (GRCm39) Y259F unknown Het
Cbs G A 17: 31,835,126 (GRCm39) A450V probably benign Het
Cdh11 T A 8: 103,396,690 (GRCm39) Q213L possibly damaging Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cfap126 T C 1: 170,953,769 (GRCm39) I113T probably damaging Het
Clk4 A G 11: 51,158,155 (GRCm39) D53G possibly damaging Het
Dab1 T C 4: 104,577,747 (GRCm39) L272P probably benign Het
Dmtf1 A T 5: 9,182,454 (GRCm39) probably null Het
Fbxw19 T A 9: 109,307,717 (GRCm39) T461S probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gcg T C 2: 62,307,282 (GRCm39) D93G probably damaging Het
Gmps A G 3: 63,901,365 (GRCm39) T395A probably damaging Het
H2-Ob A G 17: 34,461,633 (GRCm39) D124G probably damaging Het
Itga8 G T 2: 12,237,697 (GRCm39) A341E probably damaging Het
Itih3 A G 14: 30,634,831 (GRCm39) probably null Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kif2c C T 4: 117,029,489 (GRCm39) R215Q possibly damaging Het
Letm1 A C 5: 33,919,074 (GRCm39) probably benign Het
Lypd8l T C 11: 58,503,331 (GRCm39) probably benign Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Myh8 G T 11: 67,189,405 (GRCm39) A1194S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nfib A C 4: 82,416,775 (GRCm39) Y87D probably damaging Het
Nlrp4a T C 7: 26,162,045 (GRCm39) probably benign Het
Nsmce1 A T 7: 125,071,408 (GRCm39) probably benign Het
Odad2 T A 18: 7,286,758 (GRCm39) I158F probably benign Het
Or7g12 T G 9: 18,899,551 (GRCm39) V89G probably benign Het
Or7g27 A T 9: 19,250,475 (GRCm39) T240S probably damaging Het
Patj C A 4: 98,576,393 (GRCm39) Q1193K probably damaging Het
Pcdhb5 G A 18: 37,455,596 (GRCm39) V659M probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pmis2 T C 7: 30,370,817 (GRCm39) I46V probably benign Het
Ppp2r5e A G 12: 75,509,216 (GRCm39) probably benign Het
Prom2 A G 2: 127,370,709 (GRCm39) F825S probably damaging Het
Rab11fip2 G A 19: 59,894,675 (GRCm39) A524V possibly damaging Het
Rb1cc1 A C 1: 6,333,491 (GRCm39) probably null Het
Rwdd3 G C 3: 120,952,668 (GRCm39) Q180E possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgcg A T 14: 61,459,135 (GRCm39) C265S probably damaging Het
Slc16a3 T C 11: 120,848,878 (GRCm39) S445P possibly damaging Het
Slc22a3 G A 17: 12,677,380 (GRCm39) Q263* probably null Het
Sorcs3 A G 19: 48,736,758 (GRCm39) T694A probably benign Het
Tbc1d15 T C 10: 115,055,077 (GRCm39) K322E probably damaging Het
Tecta G T 9: 42,284,369 (GRCm39) F905L probably benign Het
Tmeff1 A G 4: 48,636,853 (GRCm39) I184V possibly damaging Het
Ttf1 A G 2: 28,955,419 (GRCm39) H261R possibly damaging Het
Ttll6 T A 11: 96,036,417 (GRCm39) L349M probably damaging Het
Ubac2 G A 14: 122,211,031 (GRCm39) V134M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r25 T G 6: 123,829,008 (GRCm39) I89L probably benign Het
Vmn2r6 A C 3: 64,463,723 (GRCm39) F370L probably damaging Het
Vps13b T A 15: 35,445,748 (GRCm39) Y412* probably null Het
Zfp142 A G 1: 74,624,570 (GRCm39) S85P possibly damaging Het
Zfp516 G A 18: 82,975,579 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACTTGCTGAGTTGACGTGCTGC -3'
(R):5'- CCAAACGCTGTCGTTCAACCTG -3'

Sequencing Primer
(F):5'- TCACTGAGGAGACACTCTGTG -3'
(R):5'- AACCTGCTTCTTCTTGGTCAC -3'
Posted On 2013-05-23