Incidental Mutation 'R1847:Dph1'
ID 207817
Institutional Source Beutler Lab
Gene Symbol Dph1
Ensembl Gene ENSMUSG00000078789
Gene Name diphthamide biosynthesis 1
Synonyms Dph2l1, 4930488F09Rik, Ovca1
MMRRC Submission 039872-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1847 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75068469-75081309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75070557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 361 (Y361H)
Ref Sequence ENSEMBL: ENSMUSP00000042162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044949] [ENSMUST00000071562] [ENSMUST00000139958]
AlphaFold Q5NCQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000044949
AA Change: Y361H

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789
AA Change: Y361H

DomainStartEndE-ValueType
Pfam:Diphthamide_syn 76 377 5.3e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071562
SMART Domains Protein: ENSMUSP00000071493
Gene: ENSMUSG00000038268

DomainStartEndE-ValueType
Pfam:FSH1 1 216 1.2e-57 PFAM
Pfam:Abhydrolase_2 60 225 2.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134252
Predicted Effect probably benign
Transcript: ENSMUST00000139958
SMART Domains Protein: ENSMUSP00000116537
Gene: ENSMUSG00000078789

DomainStartEndE-ValueType
Pfam:Diphthamide_syn 62 276 1.1e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156489
Meta Mutation Damage Score 0.7584 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.2%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C A 16: 14,263,313 (GRCm39) R758S probably benign Het
Acnat1 A T 4: 49,447,716 (GRCm39) H288Q possibly damaging Het
Adamts1 T C 16: 85,599,114 (GRCm39) E162G possibly damaging Het
Akap11 A G 14: 78,751,101 (GRCm39) S429P probably benign Het
Alg14 T C 3: 121,155,415 (GRCm39) Y212H probably damaging Het
Cacna1g T C 11: 94,357,007 (GRCm39) T97A probably damaging Het
Ccdc112 T A 18: 46,420,821 (GRCm39) N310Y possibly damaging Het
Cenpl A T 1: 160,913,574 (GRCm39) Y328F probably damaging Het
Cep162 G A 9: 87,086,133 (GRCm39) H1064Y probably benign Het
Cnksr3 T A 10: 7,104,324 (GRCm39) E126D probably benign Het
Ctsh T A 9: 89,943,618 (GRCm39) M81K probably benign Het
D6Wsu163e A G 6: 126,932,112 (GRCm39) T284A probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnaaf1 T A 8: 120,309,616 (GRCm39) M196K probably benign Het
Dnah9 C A 11: 65,725,212 (GRCm39) G4314C probably damaging Het
Ect2 C T 3: 27,204,221 (GRCm39) M29I probably benign Het
Eif3h T C 15: 51,661,066 (GRCm39) Y167C probably damaging Het
Epc2 C T 2: 49,422,101 (GRCm39) R332C probably damaging Het
Fras1 C A 5: 96,897,282 (GRCm39) probably null Het
Gfm2 A G 13: 97,299,442 (GRCm39) I386V probably benign Het
Gpd1l G A 9: 114,743,399 (GRCm39) T167I probably damaging Het
Hsph1 T A 5: 149,546,950 (GRCm39) K567* probably null Het
Igfn1 T G 1: 135,897,126 (GRCm39) S1147R probably benign Het
Itgb4 T C 11: 115,874,590 (GRCm39) V406A probably benign Het
Kcna2 A G 3: 107,012,429 (GRCm39) I337V possibly damaging Het
Kcnab1 T C 3: 65,209,615 (GRCm39) probably null Het
Kri1 G T 9: 21,191,788 (GRCm39) probably benign Het
Lrguk T A 6: 34,110,322 (GRCm39) I801K possibly damaging Het
Magi2 A T 5: 20,807,458 (GRCm39) N871Y probably damaging Het
Map3k10 G T 7: 27,360,981 (GRCm39) probably null Het
Mrps25 T C 6: 92,155,721 (GRCm39) T71A probably damaging Het
Myo15a G A 11: 60,390,321 (GRCm39) W945* probably null Het
Ncan A T 8: 70,555,104 (GRCm39) I1021N probably damaging Het
Ncf4 C A 15: 78,134,582 (GRCm39) S11R probably benign Het
Neb A C 2: 52,086,307 (GRCm39) S5255R possibly damaging Het
Nop2 TGATGAAGATGAAGATGA TGATGAAGATGA 6: 125,114,042 (GRCm39) probably benign Het
Or4c102 G A 2: 88,422,516 (GRCm39) A123T probably damaging Het
Or5ak22 A T 2: 85,230,785 (GRCm39) F31I probably damaging Het
Or5d16 T C 2: 87,773,065 (GRCm39) probably null Het
Pacs1 T C 19: 5,203,742 (GRCm39) I328V probably damaging Het
Pafah2 GCCCC GCCCCC 4: 134,152,852 (GRCm39) probably null Het
Pan2 A G 10: 128,140,247 (GRCm39) H56R possibly damaging Het
Pigo G A 4: 43,024,710 (GRCm39) R124* probably null Het
Ppfia2 A G 10: 106,763,571 (GRCm39) D1188G probably benign Het
Ppp1r16b A G 2: 158,603,355 (GRCm39) N327D probably damaging Het
Psd3 A G 8: 68,172,656 (GRCm39) C223R possibly damaging Het
Rad50 A G 11: 53,592,934 (GRCm39) V72A possibly damaging Het
Rcor3 T A 1: 191,785,133 (GRCm39) D445V possibly damaging Het
Rundc1 T A 11: 101,324,507 (GRCm39) H404Q probably benign Het
Ryr1 T C 7: 28,779,236 (GRCm39) K2083E probably benign Het
Scd3 C A 19: 44,224,281 (GRCm39) H171Q probably damaging Het
Scrn2 T C 11: 96,923,021 (GRCm39) F155L probably benign Het
Serpina12 A T 12: 103,998,769 (GRCm39) L323Q probably damaging Het
Sptlc3 T A 2: 139,467,843 (GRCm39) M467K probably benign Het
Stard9 G T 2: 120,528,970 (GRCm39) R1742S possibly damaging Het
Thbd A T 2: 148,249,604 (GRCm39) L88* probably null Het
Tln2 G A 9: 67,269,969 (GRCm39) Q477* probably null Het
Tnn T A 1: 159,943,752 (GRCm39) E1020D possibly damaging Het
Trip12 A T 1: 84,726,990 (GRCm39) H3Q probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmp1 G A 11: 86,534,413 (GRCm39) Q165* probably null Het
Zfp758 T A 17: 22,594,204 (GRCm39) M230K probably benign Het
Other mutations in Dph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Dph1 APN 11 75,071,775 (GRCm39) splice site probably benign
IGL01317:Dph1 APN 11 75,071,486 (GRCm39) missense probably benign 0.00
IGL01872:Dph1 APN 11 75,072,167 (GRCm39) missense probably damaging 1.00
IGL02036:Dph1 APN 11 75,074,991 (GRCm39) splice site probably null
IGL02386:Dph1 APN 11 75,074,428 (GRCm39) missense probably benign 0.00
IGL02658:Dph1 APN 11 75,071,461 (GRCm39) missense probably benign 0.08
IGL02985:Dph1 APN 11 75,074,419 (GRCm39) missense possibly damaging 0.67
R0610:Dph1 UTSW 11 75,076,783 (GRCm39) splice site probably benign
R1878:Dph1 UTSW 11 75,075,053 (GRCm39) missense probably damaging 1.00
R2037:Dph1 UTSW 11 75,076,679 (GRCm39) splice site probably null
R4569:Dph1 UTSW 11 75,069,721 (GRCm39) unclassified probably benign
R4666:Dph1 UTSW 11 75,072,156 (GRCm39) missense probably damaging 0.98
R6033:Dph1 UTSW 11 75,082,023 (GRCm39) start gained probably benign
R6033:Dph1 UTSW 11 75,082,023 (GRCm39) start gained probably benign
R6451:Dph1 UTSW 11 75,072,143 (GRCm39) missense probably damaging 0.99
R7149:Dph1 UTSW 11 75,070,001 (GRCm39) missense probably benign 0.00
R7698:Dph1 UTSW 11 75,081,267 (GRCm39) missense probably benign 0.01
R7776:Dph1 UTSW 11 75,081,272 (GRCm39) missense probably benign
R9299:Dph1 UTSW 11 75,070,622 (GRCm39) missense possibly damaging 0.69
R9563:Dph1 UTSW 11 75,076,825 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- GTGAAGAGAGTCGCAGCTAC -3'
(R):5'- ATCAGTGCAATCTGTTGACAAGTG -3'

Sequencing Primer
(F):5'- CTACACAGCGAGTCAGGTG -3'
(R):5'- CTGTTGACAAGTGGACATACTG -3'
Posted On 2014-06-23