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 Dph2l1, 4930488F09Rik, Ovca1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01317
Quality Score
Status
Chromosome 11
Chromosomal Location 75068469-75081309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75071486 bp (GRCm39)
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

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
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: 25,362,597 (GRCm39) D609E probably damaging Het
Aldh3b1 T C 19: 3,968,104 (GRCm39) I352V probably benign Het
Apeh A T 9: 107,963,406 (GRCm39) S605R probably benign Het
Arhgap32 A G 9: 32,168,260 (GRCm39) K748E probably benign Het
Avpr1a T C 10: 122,285,472 (GRCm39) S255P probably benign Het
Cadps2 T A 6: 23,314,172 (GRCm39) D1124V possibly damaging Het
Cask C T X: 13,388,499 (GRCm39) E83K probably damaging Het
Cep170b A G 12: 112,704,078 (GRCm39) Y670C probably damaging Het
Chd3 A G 11: 69,244,037 (GRCm39) Y1343H probably damaging Het
Cit T A 5: 116,046,775 (GRCm39) V396D probably benign Het
Cldn18 T C 9: 99,578,135 (GRCm39) T203A probably benign Het
Dido1 A C 2: 180,313,550 (GRCm39) N907K probably benign Het
Dmbt1 T A 7: 130,642,921 (GRCm39) D246E probably damaging Het
Dspp T A 5: 104,321,914 (GRCm39) Y8N probably damaging Het
Efhc2 C T X: 17,071,198 (GRCm39) probably benign Het
Fam171a1 T A 2: 3,203,663 (GRCm39) V215E probably damaging Het
Fhip1a T C 3: 85,580,153 (GRCm39) D684G probably benign Het
Foxm1 T A 6: 128,344,316 (GRCm39) M22K probably damaging Het
Gdpd4 A C 7: 97,647,465 (GRCm39) M371L possibly damaging Het
Hdac9 T C 12: 34,479,488 (GRCm39) probably benign Het
Heatr1 T A 13: 12,413,908 (GRCm39) W162R probably damaging Het
Hydin A T 8: 111,053,078 (GRCm39) D250V probably damaging Het
Itga4 T A 2: 79,153,005 (GRCm39) C897* probably null Het
Itprid1 G T 6: 55,944,790 (GRCm39) A504S possibly damaging Het
Kcnd2 T C 6: 21,727,339 (GRCm39) *631Q probably null Het
Kcnn2 A G 18: 45,693,694 (GRCm39) probably null Het
Lama1 A T 17: 68,125,696 (GRCm39) E2951V probably damaging Het
Lyst A G 13: 13,845,455 (GRCm39) Q1944R probably benign Het
Mmp14 A G 14: 54,673,247 (GRCm39) T52A possibly damaging Het
Mrgpra1 A T 7: 46,985,372 (GRCm39) N102K probably benign Het
Mrpl28 G A 17: 26,344,489 (GRCm39) G205D probably damaging Het
Mtmr4 T C 11: 87,493,230 (GRCm39) probably benign Het
Oog2 A G 4: 143,921,837 (GRCm39) N249S probably benign Het
Or4f57 T A 2: 111,790,620 (GRCm39) H266L possibly damaging Het
Ppp6r2 T A 15: 89,170,131 (GRCm39) V882E possibly damaging Het
Qser1 A C 2: 104,617,324 (GRCm39) Y1073D probably damaging Het
Rbl2 C A 8: 91,826,685 (GRCm39) D480E probably damaging Het
Rfx7 G A 9: 72,525,818 (GRCm39) G1003S probably damaging Het
Rrh A C 3: 129,616,074 (GRCm39) F20V possibly damaging Het
Rwdd3 A G 3: 120,965,282 (GRCm39) I15T possibly damaging Het
Sestd1 A T 2: 77,022,889 (GRCm39) M493K possibly damaging Het
Slc17a8 T A 10: 89,456,666 (GRCm39) L32F probably benign Het
Slc29a4 A G 5: 142,691,285 (GRCm39) D55G probably benign Het
Tbc1d10a A T 11: 4,162,826 (GRCm39) Y223F probably benign Het
Tbx20 A G 9: 24,681,051 (GRCm39) V147A probably damaging Het
Tmem63c A T 12: 87,118,770 (GRCm39) probably benign Het
Tmtc2 C A 10: 105,249,646 (GRCm39) R29L probably damaging Het
Ttc21b T A 2: 66,018,700 (GRCm39) M1236L probably benign Het
Unc119 T A 11: 78,238,052 (GRCm39) C12S probably damaging Het
Vcan A G 13: 89,839,787 (GRCm39) M1919T probably benign Het
Zmat4 C A 8: 24,392,185 (GRCm39) T47K probably benign Het
Other mutations in Dph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Dph1 APN 11 75,071,775 (GRCm39) splice site probably benign
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
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 2013-10-07