Incidental Mutation 'IGL02393:Dph7'
ID 293896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dph7
Ensembl Gene ENSMUSG00000026975
Gene Name diphthamine biosynethesis 7
Synonyms 2810443J12Rik, Wdr85
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL02393
Quality Score
Status
Chromosome 2
Chromosomal Location 24852412-24862175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 24856609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 187 (V187G)
Ref Sequence ENSEMBL: ENSMUSP00000028351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028350] [ENSMUST00000028351] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000135339] [ENSMUST00000143253] [ENSMUST00000153375]
AlphaFold Q9CYU6
Predicted Effect probably benign
Transcript: ENSMUST00000028350
SMART Domains Protein: ENSMUSP00000028350
Gene: ENSMUSG00000026974

DomainStartEndE-ValueType
Pfam:HNH_3 66 105 1.9e-10 PFAM
Pfam:zf-MYND 167 212 1.2e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000028351
AA Change: V187G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: V187G

DomainStartEndE-ValueType
Blast:WD40 74 118 3e-10 BLAST
Blast:WD40 128 175 3e-15 BLAST
WD40 183 223 7.43e-1 SMART
WD40 227 267 1.08e-4 SMART
WD40 271 310 1.37e2 SMART
WD40 420 455 1.97e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124383
Predicted Effect probably benign
Transcript: ENSMUST00000126909
Predicted Effect probably benign
Transcript: ENSMUST00000135339
SMART Domains Protein: ENSMUSP00000142067
Gene: ENSMUSG00000026975

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143253
SMART Domains Protein: ENSMUSP00000142315
Gene: ENSMUSG00000026975

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146382
Predicted Effect probably benign
Transcript: ENSMUST00000153375
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,410,069 (GRCm39) Y129N probably damaging Het
Afap1l2 T C 19: 56,902,872 (GRCm39) K695R probably damaging Het
Arhgap18 T G 10: 26,753,179 (GRCm39) S357R probably benign Het
Camsap1 T C 2: 25,828,334 (GRCm39) H1130R probably benign Het
Cdkl4 A G 17: 80,867,844 (GRCm39) F35L probably damaging Het
Crnn A G 3: 93,056,675 (GRCm39) H487R probably damaging Het
Dcaf4 C T 12: 83,576,805 (GRCm39) P95L probably damaging Het
Deaf1 A T 7: 140,893,246 (GRCm39) V382E possibly damaging Het
Fat3 G T 9: 15,899,708 (GRCm39) C3108* probably null Het
Ggt5 T C 10: 75,446,071 (GRCm39) probably benign Het
Kif26a G A 12: 112,139,098 (GRCm39) V396M probably damaging Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mterf4 C T 1: 93,230,601 (GRCm39) V182I possibly damaging Het
Nsg1 T C 5: 38,316,255 (GRCm39) D32G probably damaging Het
Or5k8 A G 16: 58,644,409 (GRCm39) I221T probably damaging Het
Or6c3 T C 10: 129,309,064 (GRCm39) S168P probably damaging Het
Or6c65 T A 10: 129,603,662 (GRCm39) V99E probably benign Het
P3h2 T C 16: 25,811,575 (GRCm39) Y216C probably damaging Het
Pdzd9 A C 7: 120,262,206 (GRCm39) Y85* probably null Het
Prkdc T A 16: 15,634,622 (GRCm39) V3589D probably benign Het
Qars1 A G 9: 108,391,528 (GRCm39) T26A probably benign Het
Relch A G 1: 105,615,093 (GRCm39) I253M probably damaging Het
Rhd T C 4: 134,611,406 (GRCm39) S189P probably benign Het
Rhobtb1 A T 10: 69,124,817 (GRCm39) H555L probably damaging Het
Rogdi G A 16: 4,827,088 (GRCm39) S306F probably benign Het
Slc25a25 C T 2: 32,307,855 (GRCm39) V259I probably benign Het
Srrm1 A T 4: 135,048,725 (GRCm39) probably benign Het
Stkld1 T C 2: 26,840,154 (GRCm39) V408A probably benign Het
Thbs1 T C 2: 117,953,580 (GRCm39) V999A possibly damaging Het
Tmprss11d T A 5: 86,451,471 (GRCm39) *280L probably null Het
Trim54 A G 5: 31,289,324 (GRCm39) probably benign Het
Tspear G A 10: 77,672,407 (GRCm39) R202H probably damaging Het
Vwa8 G A 14: 79,420,417 (GRCm39) G1706D probably damaging Het
Other mutations in Dph7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00828:Dph7 APN 2 24,861,655 (GRCm39) missense probably benign 0.00
IGL01021:Dph7 APN 2 24,861,935 (GRCm39) splice site probably null
IGL01322:Dph7 APN 2 24,855,629 (GRCm39) missense possibly damaging 0.85
IGL03286:Dph7 APN 2 24,856,628 (GRCm39) missense probably damaging 1.00
R0614:Dph7 UTSW 2 24,858,968 (GRCm39) critical splice donor site probably null
R1169:Dph7 UTSW 2 24,856,583 (GRCm39) missense probably benign 0.06
R1696:Dph7 UTSW 2 24,859,692 (GRCm39) critical splice donor site probably null
R2000:Dph7 UTSW 2 24,861,653 (GRCm39) missense probably benign 0.03
R4274:Dph7 UTSW 2 24,853,512 (GRCm39) missense possibly damaging 0.66
R4738:Dph7 UTSW 2 24,853,143 (GRCm39) missense possibly damaging 0.91
R4740:Dph7 UTSW 2 24,853,143 (GRCm39) missense possibly damaging 0.91
R5475:Dph7 UTSW 2 24,858,969 (GRCm39) splice site probably null
R6019:Dph7 UTSW 2 24,853,552 (GRCm39) nonsense probably null
R6645:Dph7 UTSW 2 24,855,663 (GRCm39) missense probably benign 0.02
R7443:Dph7 UTSW 2 24,852,505 (GRCm39) missense probably benign
R7570:Dph7 UTSW 2 24,855,642 (GRCm39) missense probably damaging 1.00
R7920:Dph7 UTSW 2 24,861,624 (GRCm39) missense probably benign
R8135:Dph7 UTSW 2 24,859,556 (GRCm39) missense probably benign 0.02
R9134:Dph7 UTSW 2 24,861,720 (GRCm39) missense probably benign 0.02
R9448:Dph7 UTSW 2 24,861,952 (GRCm39) missense probably damaging 1.00
R9672:Dph7 UTSW 2 24,855,606 (GRCm39) missense probably benign 0.29
Posted On 2015-04-16