Incidental Mutation 'IGL01021:Dph7'
ID53463
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 #IGL01021
Quality Score
Status
Chromosome2
Chromosomal Location24962400-24972163 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to G at 24971923 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028351] [ENSMUST00000045295] [ENSMUST00000045604] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000135339] [ENSMUST00000137913] [ENSMUST00000152777] [ENSMUST00000153618] [ENSMUST00000194392]
Predicted Effect probably damaging
Transcript: ENSMUST00000028351
AA Change: H449Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: H449Q

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 null
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 null
Transcript: ENSMUST00000152777
SMART Domains Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833

DomainStartEndE-ValueType
cNMP 89 179 4.98e0 SMART
Predicted Effect probably null
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 125,318,676 V80A unknown Het
Adam28 A G 14: 68,642,114 S162P probably benign Het
Adamts14 G T 10: 61,225,373 S426Y probably damaging Het
Ankrd24 A G 10: 81,635,161 probably null Het
B3galt5 C A 16: 96,315,723 H185Q probably benign Het
Bod1l A G 5: 41,838,173 probably benign Het
Ddx46 T A 13: 55,666,332 Y700* probably null Het
Fcho1 A T 8: 71,713,523 Y354* probably null Het
Fnbp4 A G 2: 90,777,669 M912V probably benign Het
Fpgt T A 3: 155,091,492 E42V possibly damaging Het
Frmd3 A G 4: 74,074,120 I75V possibly damaging Het
Gm10264 G A 12: 88,329,272 G7R unknown Het
Gm3278 G T 14: 4,895,222 V159L possibly damaging Het
Gmds T C 13: 32,127,030 I205V possibly damaging Het
Gprin1 T A 13: 54,740,369 S31C probably damaging Het
Igkv4-68 T C 6: 69,304,881 E102G probably damaging Het
Itga1 T A 13: 114,997,000 Y458F probably benign Het
Kif20b T C 19: 34,938,260 V479A possibly damaging Het
Megf8 T A 7: 25,338,374 W772R probably benign Het
Muc6 T A 7: 141,637,162 I2533F possibly damaging Het
Npas3 T C 12: 54,003,560 S258P probably damaging Het
Padi3 T C 4: 140,796,334 probably benign Het
Pmfbp1 G T 8: 109,537,993 R897L possibly damaging Het
Rims1 A T 1: 22,486,620 W407R probably damaging Het
Scnn1b G T 7: 121,918,036 D632Y probably damaging Het
Tas2r123 G A 6: 132,847,406 A89T probably benign Het
Tbk1 T C 10: 121,551,272 E706G probably benign Het
Thra A G 11: 98,762,928 D195G possibly damaging Het
Tpp2 T A 1: 43,934,187 Y33* probably null Het
Usp6nl T A 2: 6,424,387 M220K probably damaging Het
Vmn2r112 C T 17: 22,618,904 T782I probably damaging Het
Zbtb43 T C 2: 33,453,759 T485A probably benign Het
Zfat T C 15: 68,170,166 I840V possibly damaging Het
Other mutations in Dph7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00828:Dph7 APN 2 24971643 missense probably benign 0.00
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 On2013-06-28