Incidental Mutation 'IGL02658:Dph1'
ID 302428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dph1
Ensembl Gene ENSMUSG00000078789
Gene Name diphthamide biosynthesis 1
Synonyms Dph2l1, 4930488F09Rik, Ovca1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02658
Quality Score
Chromosome 11
Chromosomal Location 75068469-75081309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75071461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 311 (L311F)
Ref Sequence ENSEMBL: ENSMUSP00000042162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044949] [ENSMUST00000071562] [ENSMUST00000139958]
AlphaFold Q5NCQ5
Predicted Effect probably benign
Transcript: ENSMUST00000044949
AA Change: L311F

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789
AA Change: L311F

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

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

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,843,386 (GRCm39) Y946F probably benign Het
Abcb4 T G 5: 8,984,240 (GRCm39) W657G probably benign Het
Adcy1 T C 11: 7,088,279 (GRCm39) probably benign Het
Arap3 A G 18: 38,124,047 (GRCm39) V351A probably benign Het
Bpifb9b A C 2: 154,153,201 (GRCm39) Y89S probably benign Het
Carns1 C T 19: 4,223,083 (GRCm39) C47Y probably benign Het
Chd5 C T 4: 152,445,050 (GRCm39) H344Y probably damaging Het
Ctnna2 T C 6: 76,957,807 (GRCm39) T481A probably benign Het
Cyth1 T A 11: 118,073,072 (GRCm39) D264V probably damaging Het
Eif3l A G 15: 78,961,142 (GRCm39) D65G probably damaging Het
Gtf2a1l T A 17: 88,976,146 (GRCm39) F3Y probably benign Het
Hcn4 A T 9: 58,766,748 (GRCm39) T770S unknown Het
Hydin A T 8: 111,139,908 (GRCm39) I726F possibly damaging Het
Klf2 A G 8: 73,072,940 (GRCm39) I7V probably benign Het
Ltn1 A T 16: 87,212,662 (GRCm39) L633H probably damaging Het
Ncoa3 A G 2: 165,893,313 (GRCm39) D206G probably benign Het
Nlrp4a T G 7: 26,149,138 (GRCm39) D248E probably benign Het
Nyap1 A G 5: 137,733,746 (GRCm39) I429T probably damaging Het
Or1j10 T A 2: 36,267,072 (GRCm39) C95S probably damaging Het
Or2p2 G A 13: 21,256,982 (GRCm39) T163I probably damaging Het
Or2t6 T A 14: 14,175,732 (GRCm38) M117L possibly damaging Het
Or51g1 A G 7: 102,633,537 (GRCm39) M278T probably benign Het
Or8s16 A G 15: 98,211,237 (GRCm39) S65P probably damaging Het
Pcf11 T C 7: 92,296,254 (GRCm39) E1322G probably damaging Het
Plcxd2 A T 16: 45,792,689 (GRCm39) F217I probably benign Het
Plxna4 A T 6: 32,162,346 (GRCm39) I1389N probably damaging Het
Ppp1r15a T C 7: 45,174,091 (GRCm39) Y239C probably benign Het
Psma6 A G 12: 55,458,996 (GRCm39) E126G probably benign Het
R3hcc1l T A 19: 42,551,141 (GRCm39) V46E probably damaging Het
Rap1gds1 G T 3: 138,663,240 (GRCm39) H320N probably damaging Het
Sdhaf3 A G 6: 7,038,992 (GRCm39) M105V probably damaging Het
Slc22a26 T A 19: 7,765,613 (GRCm39) N345I probably benign Het
Sncaip T C 18: 53,028,027 (GRCm39) I412T possibly damaging Het
Sorcs1 A T 19: 50,178,530 (GRCm39) I864N probably damaging Het
Spag5 C T 11: 78,212,157 (GRCm39) Q1062* probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Szrd1 A G 4: 140,867,057 (GRCm39) probably benign Het
Tns2 C A 15: 102,016,231 (GRCm39) probably benign Het
Trcg1 C A 9: 57,149,511 (GRCm39) S361* probably null Het
Tshz3 T C 7: 36,468,583 (GRCm39) F191L probably damaging Het
Ttc39a T C 4: 109,280,090 (GRCm39) V124A probably damaging Het
Ttf1 T C 2: 28,964,023 (GRCm39) I633T probably damaging Het
Zfp691 A G 4: 119,027,704 (GRCm39) F176S probably damaging 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
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
R1847:Dph1 UTSW 11 75,070,557 (GRCm39) missense probably damaging 0.96
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
Posted On 2015-04-16