Incidental Mutation 'R4542:Dph5'
ID 333568
Institutional Source Beutler Lab
Gene Symbol Dph5
Ensembl Gene ENSMUSG00000033554
Gene Name diphthamide biosynthesis 5
Synonyms 2410012M04Rik
MMRRC Submission 041593-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R4542 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 115681785-115728010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115722274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 251 (S251P)
Ref Sequence ENSEMBL: ENSMUSP00000140958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043342] [ENSMUST00000185098] [ENSMUST00000189799]
AlphaFold Q9CWQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000043342
AA Change: S251P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554
AA Change: S251P

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: S251P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554
AA Change: S251P

DomainStartEndE-ValueType
Pfam:TP_methylase 1 241 7.7e-22 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,163,875 (GRCm39) L833Q probably damaging Het
Adcy6 C G 15: 98,496,869 (GRCm39) V469L possibly damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bean1 T A 8: 104,937,591 (GRCm39) F57I probably damaging Het
Brinp1 T C 4: 68,680,329 (GRCm39) I734V probably benign Het
Cab39l C A 14: 59,734,351 (GRCm39) D23E probably benign Het
Cfap54 T C 10: 92,860,991 (GRCm39) T839A probably benign Het
Clgn A G 8: 84,146,838 (GRCm39) E297G probably damaging Het
Crip1 A G 12: 113,117,109 (GRCm39) Y108C probably damaging Het
Cxcr2 A G 1: 74,197,688 (GRCm39) S61G probably benign Het
E2f7 T A 10: 110,602,984 (GRCm39) V333E probably damaging Het
Eif4g3 A G 4: 137,930,728 (GRCm39) D918G probably damaging Het
Epn1 A G 7: 5,096,980 (GRCm39) E254G possibly damaging Het
Fat1 T C 8: 45,494,931 (GRCm39) C4065R probably damaging Het
Gja1 T C 10: 56,264,148 (GRCm39) F169S probably damaging Het
Kmt2b A G 7: 30,279,684 (GRCm39) I1384T probably damaging Het
Ltbp2 A T 12: 84,878,593 (GRCm39) L302* probably null Het
Nalcn T C 14: 123,558,889 (GRCm39) silent Het
Nlrp1b A C 11: 71,119,151 (GRCm39) L48W probably damaging Het
Nlrp4c G A 7: 6,103,826 (GRCm39) W920* probably null Het
Nr2f1 C T 13: 78,337,940 (GRCm39) G235D probably damaging Het
Nt5dc2 T A 14: 30,860,095 (GRCm39) D374E probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or51e2 T C 7: 102,391,850 (GRCm39) D120G probably damaging Het
Or5ak23 T C 2: 85,244,287 (GRCm39) D312G probably benign Het
Pikfyve T C 1: 65,283,589 (GRCm39) I742T probably damaging Het
Rftn1 A G 17: 50,362,259 (GRCm39) probably null Het
Rfx1 G A 8: 84,816,866 (GRCm39) G466S probably damaging Het
Scn11a A T 9: 119,584,200 (GRCm39) S1472T probably damaging Het
Sh2d4a A G 8: 68,799,394 (GRCm39) Q421R probably benign Het
Slc25a10 G A 11: 120,388,807 (GRCm39) probably null Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Spen T C 4: 141,204,097 (GRCm39) Y1510C unknown Het
Ssu72 A G 4: 155,817,934 (GRCm39) Q163R probably benign Het
Stau1 A G 2: 166,795,181 (GRCm39) Y223H probably damaging Het
Syne3 A T 12: 104,935,503 (GRCm39) S92T probably benign Het
Ulbp1 T C 10: 7,406,570 (GRCm39) D45G probably damaging Het
Ulk4 G A 9: 121,092,704 (GRCm39) R178* probably null Het
Vmn1r67 A G 7: 10,181,357 (GRCm39) Y207C probably damaging Het
Vmn2r59 T C 7: 41,695,497 (GRCm39) D305G possibly damaging Het
Zbtb18 A G 1: 177,276,232 (GRCm39) K522E 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
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'- TTCAGAAGTCAGTGTGTGCAC -3'
(R):5'- GACAGAGCCATGCCATTTGAC -3'

Sequencing Primer
(F):5'- GCACTGTTACTGTGAAAGTTGAC -3'
(R):5'- GCCATGCCATTTGACATATAAATACC -3'
Posted On 2015-08-18