Incidental Mutation 'IGL01322:Dph7'
ID74084
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: 0.097) question?
Stock #IGL01322
Quality Score
Status
Chromosome2
Chromosomal Location24962400-24972163 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24965617 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 143 (S143P)
Ref Sequence ENSEMBL: ENSMUSP00000028351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028350] [ENSMUST00000028351] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000135339] [ENSMUST00000143253] [ENSMUST00000153375]
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: S143P

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: S143P

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Abca2 T A 2: 25,446,782 probably null Het
Ano7 T A 1: 93,395,508 V497D probably benign Het
B4gat1 T C 19: 5,040,009 Y345H probably damaging Het
Bckdha T A 7: 25,658,707 R12W possibly damaging Het
Bcl7c T A 7: 127,707,436 N93Y probably damaging Het
Cc2d2a C A 5: 43,689,003 T368K probably benign Het
Chek1 G A 9: 36,718,421 Q210* probably null Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Cspg4 T A 9: 56,898,588 F2228I probably damaging Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
Ehbp1 T A 11: 22,089,636 K821N probably damaging Het
Eomes T C 9: 118,484,830 S648P probably benign Het
Fam20a A G 11: 109,682,912 V215A probably damaging Het
Fer1l4 T A 2: 156,020,339 probably null Het
Frem2 A G 3: 53,541,038 V2319A probably benign Het
Gtf3c4 T C 2: 28,833,572 D575G probably benign Het
Ifit1bl2 A G 19: 34,619,004 V404A probably benign Het
Kcnf1 T C 12: 17,175,348 M291V probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Klra4 T A 6: 130,062,022 T136S probably benign Het
Mcrs1 A T 15: 99,243,385 I399N probably damaging Het
Neo1 T C 9: 58,907,085 E866G possibly damaging Het
Notch3 T C 17: 32,144,471 D1206G probably damaging Het
Olfr1427 A C 19: 12,099,405 V78G probably benign Het
Olfr1443 A C 19: 12,680,749 I214L probably benign Het
Olfr290 T A 7: 84,916,382 V201E probably damaging Het
Olfr299 T A 7: 86,466,272 I287N probably damaging Het
Olfr479 A G 7: 108,054,981 probably benign Het
Olfr800 A G 10: 129,660,126 T107A probably benign Het
Pnkd A G 1: 74,351,557 N336D probably damaging Het
Prag1 T C 8: 36,103,934 V557A probably benign Het
Ptgfr A C 3: 151,835,686 S62A probably benign Het
Smc2 A G 4: 52,450,842 Y220C probably damaging Het
Sufu G A 19: 46,450,943 E246K probably damaging Het
Sult2a1 T A 7: 13,832,679 R124* probably null Het
Sult4a1 T A 15: 84,086,616 Y196F possibly damaging Het
Trim15 G A 17: 36,865,083 R191W probably damaging Het
Ttn A G 2: 76,942,975 V2361A possibly damaging Het
Usp16 T C 16: 87,466,276 V122A possibly damaging Het
Vmn1r122 T A 7: 21,134,111 K6N probably benign Het
Vmn1r34 G A 6: 66,636,915 Q280* probably null Het
Vmn2r45 T A 7: 8,481,333 H491L possibly damaging Het
Wdpcp T C 11: 21,711,949 L407P probably damaging Het
Zfp157 T C 5: 138,447,578 I65T probably benign Het
Other mutations in Dph7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00828:Dph7 APN 2 24971643 missense probably benign 0.00
IGL01021:Dph7 APN 2 24971923 unclassified probably null
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 On2013-10-07