Incidental Mutation 'R7149:Dph1'
ID 554013
Institutional Source Beutler Lab
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 # R7149 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 75068469-75081309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75070001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 409 (K409E)
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: K409E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789
AA Change: K409E

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 probably benign
Transcript: ENSMUST00000139958
SMART Domains Protein: ENSMUSP00000116537
Gene: ENSMUSG00000078789

DomainStartEndE-ValueType
Pfam:Diphthamide_syn 62 276 1.1e-79 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A C 11: 100,375,451 (GRCm39) F790V probably damaging Het
Atf4 AAGCGGGCTGAGC AAGC 15: 80,141,500 (GRCm39) probably benign Het
Brd8 C T 18: 34,737,650 (GRCm39) probably null Het
Bsn A T 9: 107,993,520 (GRCm39) L744* probably null Het
Capn9 A G 8: 125,332,448 (GRCm39) D429G probably benign Het
CK137956 A T 4: 127,864,626 (GRCm39) M1K probably null Het
Cnot6 G A 11: 49,570,970 (GRCm39) P341S probably benign Het
Cracdl G A 1: 37,651,352 (GRCm39) Q1172* probably null Het
Dld T G 12: 31,385,589 (GRCm39) I251L probably benign Het
Dlg5 T C 14: 24,240,492 (GRCm39) K253R probably benign Het
Dnmt3a C T 12: 3,952,397 (GRCm39) P696L probably damaging Het
Dsg2 T C 18: 20,712,511 (GRCm39) S172P probably damaging Het
Gm1979 T C 5: 26,206,945 (GRCm39) N136S probably benign Het
Gm2663 A T 6: 40,974,891 (GRCm39) L60Q probably damaging Het
Hdac10 A G 15: 89,011,652 (GRCm39) F144S probably damaging Het
Ifi203 T C 1: 173,756,494 (GRCm39) T430A unknown Het
Itgb2l T C 16: 96,234,759 (GRCm39) D244G probably damaging Het
Klk1b9 A T 7: 43,628,841 (GRCm39) Y115F probably benign Het
Llcfc1 C A 6: 41,662,251 (GRCm39) A85E possibly damaging Het
Lrp1b C T 2: 40,527,872 (GRCm39) V4330M Het
Map3k13 A G 16: 21,744,187 (GRCm39) E811G probably benign Het
Myl6b A G 10: 128,333,068 (GRCm39) probably null Het
Myo15a G A 11: 60,400,836 (GRCm39) A2997T possibly damaging Het
Nalcn T C 14: 123,837,277 (GRCm39) D29G probably benign Het
Nepro T A 16: 44,550,078 (GRCm39) probably null Het
Nlrp1b T A 11: 71,072,482 (GRCm39) R454* probably null Het
Nlrp4a T C 7: 26,149,863 (GRCm39) V490A probably benign Het
Or1e1f G A 11: 73,856,257 (GRCm39) M274I probably benign Het
Or2l13 T C 16: 19,306,260 (GRCm39) V224A probably damaging Het
Pde8b T G 13: 95,223,349 (GRCm39) M197L probably benign Het
Phldb2 T A 16: 45,571,895 (GRCm39) K1166* probably null Het
Plekhm1 A G 11: 103,285,742 (GRCm39) I231T probably damaging Het
Ppp6r2 T C 15: 89,146,599 (GRCm39) I199T probably damaging Het
Ptch1 G T 13: 63,659,550 (GRCm39) H1368N probably benign Het
Ptprj T A 2: 90,274,790 (GRCm39) T1191S possibly damaging Het
Rapgef1 T C 2: 29,610,712 (GRCm39) S748P probably damaging Het
Rigi T C 4: 40,222,079 (GRCm39) D445G possibly damaging Het
Rnmt T C 18: 68,452,222 (GRCm39) S420P probably damaging Het
Sgms2 A G 3: 131,129,908 (GRCm39) F160S possibly damaging Het
Sim1 G T 10: 50,785,636 (GRCm39) R235L probably damaging Het
Slco1a7 A G 6: 141,690,178 (GRCm39) S192P probably damaging Het
Smarcad1 T A 6: 65,029,716 (GRCm39) D101E probably benign Het
Smarcc2 G A 10: 128,318,598 (GRCm39) V627M probably damaging Het
Supt20 G A 3: 54,635,832 (GRCm39) R241H unknown Het
Tagln2 T A 1: 172,333,386 (GRCm39) I80N probably damaging Het
Tmod2 G A 9: 75,489,167 (GRCm39) T226I possibly damaging Het
Vmn2r80 A T 10: 79,030,654 (GRCm39) I827F probably benign Het
Vmn2r96 T A 17: 18,817,989 (GRCm39) M714K possibly damaging Het
Vps8 C A 16: 21,278,526 (GRCm39) D261E probably damaging Het
Yeats2 C A 16: 19,972,939 (GRCm39) A31E probably damaging Het
Zfp451 C T 1: 33,816,405 (GRCm39) R515Q probably damaging Het
Zfp553 A G 7: 126,835,605 (GRCm39) S387G possibly 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
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
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'- TTGCAACTCTCACAGGCTGG -3'
(R):5'- ACCCTGGTCAAATTTGCTAATGC -3'

Sequencing Primer
(F):5'- AGGCTGGGGCTGGAGAG -3'
(R):5'- GAGAGAGGAAGGAAGGAAGGG -3'
Posted On 2019-05-15