Incidental Mutation 'IGL02036:Dph1'
ID184532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dph1
Ensembl Gene ENSMUSG00000078789
Gene Namediphthamide biosynthesis 1
Synonyms4930488F09Rik, Ovca1, Dph2l1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02036
Quality Score
Status
Chromosome11
Chromosomal Location75177643-75191241 bp(-) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) T to C at 75184165 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044949] [ENSMUST00000139958]
Predicted Effect probably null
Transcript: ENSMUST00000044949
SMART Domains Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789

DomainStartEndE-ValueType
Pfam:Diphthamide_syn 76 377 5.3e-123 PFAM
Predicted Effect probably null
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,137,525 V290M possibly damaging Het
Cep290 T A 10: 100,558,100 C2056* probably null Het
Cyp2c38 T A 19: 39,460,316 D143V probably null Het
Ddx10 T C 9: 53,204,183 K617R probably benign Het
Dgat2l6 T A X: 100,545,593 I336N probably damaging Het
Dopey1 A G 9: 86,531,765 I1906M probably benign Het
Dpep3 T G 8: 105,973,785 T430P probably benign Het
Epha7 T C 4: 28,950,509 S775P probably damaging Het
F5 A G 1: 164,183,002 probably benign Het
Hdx T A X: 111,659,867 T342S probably benign Het
Inpp4a T C 1: 37,377,569 probably benign Het
Itgad A G 7: 128,189,821 T515A possibly damaging Het
Kcnc2 T A 10: 112,455,926 S340T possibly damaging Het
Krba1 C T 6: 48,415,642 T830I possibly damaging Het
Lrch1 G A 14: 74,795,293 probably benign Het
Mag C T 7: 30,908,452 V295M probably damaging Het
Mmp16 T A 4: 18,093,371 D375E probably benign Het
Olfr1216 A G 2: 89,013,479 V195A probably benign Het
Olfr314 T C 11: 58,787,097 Y288H probably damaging Het
Olfr90 A G 17: 37,085,667 F166S probably damaging Het
Pcyox1l T C 18: 61,707,536 probably benign Het
Secisbp2l A G 2: 125,758,207 S403P probably benign Het
Sh3tc2 T A 18: 62,014,907 H1229Q probably benign Het
Svep1 A C 4: 58,088,245 W1735G possibly damaging Het
Tbxas1 T A 6: 39,021,157 C220S probably benign Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Ywhag A G 5: 135,911,494 V82A probably benign Het
Other mutations in Dph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Dph1 APN 11 75180949 splice site probably benign
IGL01317:Dph1 APN 11 75180660 missense probably benign 0.00
IGL01872:Dph1 APN 11 75181341 missense probably damaging 1.00
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 not run
Posted On2014-05-07