Incidental Mutation 'IGL00828:Dph7'
ID14858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dph7
Ensembl Gene ENSMUSG00000026975
Gene Namediphthamine biosynethesis 7
Synonyms2810443J12Rik, Wdr85
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL00828
Quality Score
Status
Chromosome2
Chromosomal Location24962400-24972163 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24971643 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 356 (Q356L)
Ref Sequence ENSEMBL: ENSMUSP00000028351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028351] [ENSMUST00000045295] [ENSMUST00000045604] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000135339] [ENSMUST00000137913] [ENSMUST00000152777] [ENSMUST00000153618] [ENSMUST00000194392]
Predicted Effect probably benign
Transcript: ENSMUST00000028351
AA Change: Q356L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: Q356L

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: ENSMUST00000045295
SMART Domains Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
low complexity region 59 66 N/A INTRINSIC
cNMP 170 295 2.06e-12 SMART
low complexity region 439 444 N/A INTRINSIC
cNMP 481 600 1.16e-6 SMART
cNMP 603 716 1.55e-7 SMART
Pfam:Patatin 950 1116 3.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045604
SMART Domains Protein: ENSMUSP00000043561
Gene: ENSMUSG00000036850

DomainStartEndE-ValueType
Pfam:MRP-L27 13 125 1.3e-47 PFAM
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: ENSMUST00000137913
SMART Domains Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
low complexity region 33 40 N/A INTRINSIC
Pfam:cNMP_binding 162 200 2.7e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146382
Predicted Effect probably benign
Transcript: ENSMUST00000152777
SMART Domains Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833

DomainStartEndE-ValueType
cNMP 89 179 4.98e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153618
SMART Domains Protein: ENSMUSP00000117428
Gene: ENSMUSG00000036833

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
low complexity region 57 64 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194392
SMART Domains Protein: ENSMUSP00000141974
Gene: ENSMUSG00000036850

DomainStartEndE-ValueType
Pfam:MRP-L27 56 98 1.1e-12 PFAM
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,488,119 I372F possibly damaging Het
Dcaf6 G A 1: 165,338,347 probably benign Het
Gpr107 A T 2: 31,177,783 probably null Het
Kmt2a T C 9: 44,820,776 probably benign Het
Pign A T 1: 105,554,120 Y816N probably damaging Het
Slc17a5 G A 9: 78,578,551 A84V probably benign Het
Trim6 A G 7: 104,230,743 T230A probably benign Het
Usp40 G A 1: 87,978,306 probably benign Het
Zfp980 A T 4: 145,701,991 H430L probably benign Het
Zmpste24 G A 4: 121,074,520 R303C possibly damaging Het
Other mutations in Dph7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Dph7 APN 2 24971923 unclassified probably null
IGL01322:Dph7 APN 2 24965617 missense possibly damaging 0.85
IGL02393:Dph7 APN 2 24966597 missense possibly damaging 0.89
IGL03286:Dph7 APN 2 24966616 missense probably damaging 1.00
R0614:Dph7 UTSW 2 24968956 critical splice donor site probably null
R1169:Dph7 UTSW 2 24966571 missense probably benign 0.06
R1696:Dph7 UTSW 2 24969680 critical splice donor site probably null
R2000:Dph7 UTSW 2 24971641 missense probably benign 0.03
R4274:Dph7 UTSW 2 24963500 missense possibly damaging 0.66
R4738:Dph7 UTSW 2 24963131 missense possibly damaging 0.91
R4740:Dph7 UTSW 2 24963131 missense possibly damaging 0.91
R5475:Dph7 UTSW 2 24968957 splice site probably null
R6019:Dph7 UTSW 2 24963540 nonsense probably null
R6645:Dph7 UTSW 2 24965651 missense probably benign 0.02
R7443:Dph7 UTSW 2 24962493 missense probably benign
R7570:Dph7 UTSW 2 24965630 missense probably damaging 1.00
Posted On2012-12-06