Incidental Mutation 'IGL01761:Dph5'
ID153557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dph5
Ensembl Gene ENSMUSG00000033554
Gene Namediphthamide biosynthesis 5
Synonyms2410012M04Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.935) question?
Stock #IGL01761
Quality Score
Status
Chromosome3
Chromosomal Location115887837-115934361 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 115899713 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 93 (D93E)
Ref Sequence ENSEMBL: ENSMUSP00000140958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043342] [ENSMUST00000106505] [ENSMUST00000185098] [ENSMUST00000189799] [ENSMUST00000196804]
Predicted Effect probably damaging
Transcript: ENSMUST00000043342
AA Change: D93E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554
AA Change: D93E

DomainStartEndE-ValueType
Pfam:TP_methylase 1 241 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106505
AA Change: D93E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102114
Gene: ENSMUSG00000033554
AA Change: D93E

DomainStartEndE-ValueType
Pfam:TP_methylase 1 138 3.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185098
AA Change: D93E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000139249
Gene: ENSMUSG00000033554
AA Change: D93E

DomainStartEndE-ValueType
Pfam:TP_methylase 1 177 4.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189799
AA Change: D93E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554
AA Change: D93E

DomainStartEndE-ValueType
Pfam:TP_methylase 1 241 7.7e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196804
AA Change: D93E

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142654
Gene: ENSMUSG00000033554
AA Change: D93E

DomainStartEndE-ValueType
Pfam:TP_methylase 1 114 1e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T C 17: 36,978,807 T44A probably damaging Het
A2ml1 T A 6: 128,546,337 Q1212L possibly damaging Het
A530064D06Rik T C 17: 48,152,959 S190G possibly damaging Het
AA986860 A G 1: 130,742,722 H227R possibly damaging Het
Ace C A 11: 105,979,493 A826E possibly damaging Het
Amigo3 G A 9: 108,053,402 G8D possibly damaging Het
Angpt1 A T 15: 42,476,467 F283I possibly damaging Het
Arhgef5 T C 6: 43,274,604 L763P probably benign Het
Atr T C 9: 95,951,448 probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
C4b T A 17: 34,739,938 M506L possibly damaging Het
Cdc25a T C 9: 109,891,865 probably benign Het
Dcaf17 T C 2: 71,056,537 S57P probably damaging Het
Fam169a A G 13: 97,091,918 E33G possibly damaging Het
Fam193b G A 13: 55,549,257 T340I probably benign Het
Glod4 T C 11: 76,243,602 N15D probably benign Het
Inpp5k A G 11: 75,647,677 E102G possibly damaging Het
Kif27 A T 13: 58,337,645 D500E probably benign Het
Lmntd1 A G 6: 145,433,722 I15T possibly damaging Het
Lrp2 C T 2: 69,481,235 R2633H possibly damaging Het
Lrp4 G A 2: 91,481,981 probably null Het
Lrrc3b A C 14: 15,358,098 N169K probably benign Het
March7 T C 2: 60,234,195 S272P probably benign Het
Mier2 A G 10: 79,548,352 probably null Het
Myo9b G A 8: 71,349,152 S1307N probably damaging Het
Olfr1220 G T 2: 89,097,544 P128T probably damaging Het
Olfr494 T G 7: 108,368,318 V276G probably damaging Het
Phkb A T 8: 86,019,064 M629L probably benign Het
Rergl C A 6: 139,501,865 V4F probably damaging Het
Rgs22 A T 15: 36,103,751 I188N probably damaging Het
Rgs3 G T 4: 62,652,709 probably benign Het
Rpl4 T A 9: 64,174,939 V40D probably damaging Het
Sox4 A T 13: 28,952,807 I72N possibly damaging Het
Syne1 A C 10: 5,405,456 V375G probably damaging Het
Tfrc G T 16: 32,628,551 D662Y probably damaging Het
Ubqln5 T C 7: 104,128,427 R397G possibly damaging Het
Unc13d T C 11: 116,073,869 D257G probably damaging Het
Vmn1r160 A T 7: 22,871,443 N74Y probably damaging Het
Vmn1r168 T A 7: 23,541,645 I309N possibly damaging Het
Vmn1r20 T C 6: 57,431,740 L17P probably damaging Het
Wdr19 A G 5: 65,215,820 I142V possibly damaging Het
Zan A T 5: 137,425,597 I2680N unknown Het
Zbtb20 T C 16: 43,610,661 F512L possibly damaging Het
Other mutations in Dph5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02441:Dph5 APN 3 115926741 missense possibly damaging 0.88
IGL02852:Dph5 APN 3 115928671 missense possibly damaging 0.95
R0200:Dph5 UTSW 3 115928703 missense probably benign 0.03
R0463:Dph5 UTSW 3 115928703 missense probably benign 0.03
R0466:Dph5 UTSW 3 115928710 missense probably benign 0.02
R0707:Dph5 UTSW 3 115915133 missense probably benign 0.00
R4542:Dph5 UTSW 3 115928625 missense probably damaging 1.00
R4601:Dph5 UTSW 3 115899777 missense possibly damaging 0.93
R4932:Dph5 UTSW 3 115899807 missense probably benign
R4950:Dph5 UTSW 3 115928643 missense probably benign 0.33
R6504:Dph5 UTSW 3 115926803 splice site probably null
R6662:Dph5 UTSW 3 115928556 missense probably benign 0.00
R7431:Dph5 UTSW 3 115892732 missense possibly damaging 0.67
R7565:Dph5 UTSW 3 115892797 missense probably benign
Posted On2014-02-04