Incidental Mutation 'IGL01317:Dph1'
ID 73903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dph1
Ensembl Gene ENSMUSG00000078789
Gene Name diphthamide biosynthesis 1
Synonyms 4930488F09Rik, Ovca1, Dph2l1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01317
Quality Score
Chromosome 11
Chromosomal Location 75177643-75191241 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75180660 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 303 (H303R)
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: H303R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789
AA Change: H303R

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,872,581 D609E probably damaging Het
Aldh3b1 T C 19: 3,918,104 I352V probably benign Het
Apeh A T 9: 108,086,207 S605R probably benign Het
Arhgap32 A G 9: 32,256,964 K748E probably benign Het
Avpr1a T C 10: 122,449,567 S255P probably benign Het
Cadps2 T A 6: 23,314,173 D1124V possibly damaging Het
Cask C T X: 13,522,260 E83K probably damaging Het
Ccdc129 G T 6: 55,967,805 A504S possibly damaging Het
Cep170b A G 12: 112,737,644 Y670C probably damaging Het
Chd3 A G 11: 69,353,211 Y1343H probably damaging Het
Cit T A 5: 115,908,716 V396D probably benign Het
Cldn18 T C 9: 99,696,082 T203A probably benign Het
Dido1 A C 2: 180,671,757 N907K probably benign Het
Dmbt1 T A 7: 131,041,191 D246E probably damaging Het
Dspp T A 5: 104,174,048 Y8N probably damaging Het
Efhc2 C T X: 17,204,959 probably benign Het
Fam160a1 T C 3: 85,672,846 D684G probably benign Het
Fam171a1 T A 2: 3,202,626 V215E probably damaging Het
Foxm1 T A 6: 128,367,353 M22K probably damaging Het
Gdpd4 A C 7: 97,998,258 M371L possibly damaging Het
Hdac9 T C 12: 34,429,489 probably benign Het
Heatr1 T A 13: 12,399,027 W162R probably damaging Het
Hydin A T 8: 110,326,446 D250V probably damaging Het
Itga4 T A 2: 79,322,661 C897* probably null Het
Kcnd2 T C 6: 21,727,340 *631Q probably null Het
Kcnn2 A G 18: 45,560,627 probably null Het
Lama1 A T 17: 67,818,701 E2951V probably damaging Het
Lyst A G 13: 13,670,870 Q1944R probably benign Het
Mmp14 A G 14: 54,435,790 T52A possibly damaging Het
Mrgpra1 A T 7: 47,335,624 N102K probably benign Het
Mrpl28 G A 17: 26,125,515 G205D probably damaging Het
Mtmr4 T C 11: 87,602,404 probably benign Het
Olfr1308 T A 2: 111,960,275 H266L possibly damaging Het
Oog2 A G 4: 144,195,267 N249S probably benign Het
Ppp6r2 T A 15: 89,285,928 V882E possibly damaging Het
Qser1 A C 2: 104,786,979 Y1073D probably damaging Het
Rbl2 C A 8: 91,100,057 D480E probably damaging Het
Rfx7 G A 9: 72,618,536 G1003S probably damaging Het
Rrh A C 3: 129,822,425 F20V possibly damaging Het
Rwdd3 A G 3: 121,171,633 I15T possibly damaging Het
Sestd1 A T 2: 77,192,545 M493K possibly damaging Het
Slc17a8 T A 10: 89,620,804 L32F probably benign Het
Slc29a4 A G 5: 142,705,530 D55G probably benign Het
Tbc1d10a A T 11: 4,212,826 Y223F probably benign Het
Tbx20 A G 9: 24,769,755 V147A probably damaging Het
Tmem63c A T 12: 87,071,996 probably benign Het
Tmtc2 C A 10: 105,413,785 R29L probably damaging Het
Ttc21b T A 2: 66,188,356 M1236L probably benign Het
Unc119 T A 11: 78,347,226 C12S probably damaging Het
Vcan A G 13: 89,691,668 M1919T probably benign Het
Zmat4 C A 8: 23,902,169 T47K probably benign Het
Other mutations in Dph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Dph1 APN 11 75180949 splice site probably benign
IGL01872:Dph1 APN 11 75181341 missense probably damaging 1.00
IGL02036:Dph1 APN 11 75184165 splice site probably null
IGL02386:Dph1 APN 11 75183602 missense probably benign 0.00
IGL02658:Dph1 APN 11 75180635 missense probably benign 0.08
IGL02985:Dph1 APN 11 75183593 missense possibly damaging 0.67
R0610:Dph1 UTSW 11 75185957 splice site probably benign
R1847:Dph1 UTSW 11 75179731 missense probably damaging 0.96
R1878:Dph1 UTSW 11 75184227 missense probably damaging 1.00
R2037:Dph1 UTSW 11 75185853 splice site probably null
R4569:Dph1 UTSW 11 75178895 unclassified probably benign
R4666:Dph1 UTSW 11 75181330 missense probably damaging 0.98
R6033:Dph1 UTSW 11 75191197 start gained probably benign
R6033:Dph1 UTSW 11 75191197 start gained probably benign
R6451:Dph1 UTSW 11 75181317 missense probably damaging 0.99
R7149:Dph1 UTSW 11 75179175 missense probably benign 0.00
R7698:Dph1 UTSW 11 75190441 missense probably benign 0.01
R7776:Dph1 UTSW 11 75190446 missense probably benign
R9299:Dph1 UTSW 11 75179796 missense possibly damaging 0.69
R9563:Dph1 UTSW 11 75185999 missense possibly damaging 0.83
Posted On 2013-10-07