Incidental Mutation 'IGL00576:Wdr47'
ID6778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr47
Ensembl Gene ENSMUSG00000040389
Gene NameWD repeat domain 47
Synonyms1810073M12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00576
Quality Score
Status
Chromosome3
Chromosomal Location108591279-108645719 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108618734 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 191 (N191S)
Ref Sequence ENSEMBL: ENSMUSP00000057482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051145] [ENSMUST00000124731]
Predicted Effect probably benign
Transcript: ENSMUST00000051145
AA Change: N191S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: N191S

DomainStartEndE-ValueType
LisH 10 42 8.87e-4 SMART
CTLH 45 102 1.93e-13 SMART
low complexity region 137 146 N/A INTRINSIC
low complexity region 226 254 N/A INTRINSIC
coiled coil region 414 455 N/A INTRINSIC
low complexity region 506 523 N/A INTRINSIC
WD40 597 635 7e-4 SMART
WD40 648 690 5.18e-7 SMART
WD40 698 742 2.28e2 SMART
WD40 745 783 9.38e-5 SMART
WD40 790 829 1.31e-3 SMART
WD40 832 871 1.28e-6 SMART
WD40 878 917 7.39e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123568
Predicted Effect probably benign
Transcript: ENSMUST00000124731
SMART Domains Protein: ENSMUSP00000143335
Gene: ENSMUSG00000040389

DomainStartEndE-ValueType
LisH 10 42 2.7e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139626
SMART Domains Protein: ENSMUSP00000120676
Gene: ENSMUSG00000040389

DomainStartEndE-ValueType
LisH 10 42 8.87e-4 SMART
CTLH 45 102 1.93e-13 SMART
transmembrane domain 112 129 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197398
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak8 T C 2: 28,742,717 L316P probably damaging Het
Ampd3 C T 7: 110,788,821 probably benign Het
Arhgap42 C A 9: 8,997,620 E835* probably null Het
Arid2 G A 15: 96,356,758 V162M probably damaging Het
Atp2a2 C T 5: 122,458,083 probably null Het
Bmper A G 9: 23,406,603 D506G probably damaging Het
Clca4b A G 3: 144,925,347 F251L probably damaging Het
Col12a1 T C 9: 79,647,652 D2048G probably damaging Het
Dnhd1 G A 7: 105,692,675 S1227N probably damaging Het
Dpp8 T A 9: 65,043,829 H182Q probably benign Het
Drosha A G 15: 12,883,194 K798E probably damaging Het
Gbp8 A G 5: 105,017,888 probably benign Het
Gm884 A G 11: 103,617,386 probably benign Het
Hectd1 A G 12: 51,759,309 I1843T probably damaging Het
Kansl1l T C 1: 66,724,574 N772S possibly damaging Het
Ndst2 T C 14: 20,724,484 R835G probably benign Het
Psme4 T C 11: 30,823,145 V836A possibly damaging Het
Ptpn21 G A 12: 98,733,601 S18F probably damaging Het
Reln T C 5: 22,154,950 H192R probably benign Het
Tcf20 A G 15: 82,856,075 F392L probably damaging Het
Ttc21a T C 9: 119,965,819 F1024L probably damaging Het
Vezf1 T A 11: 88,073,644 C19* probably null Het
Zfp7 T G 15: 76,890,901 probably benign Het
Zfp933 A T 4: 147,826,321 C273S probably damaging Het
Other mutations in Wdr47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Wdr47 APN 3 108611396 missense probably damaging 1.00
IGL01821:Wdr47 APN 3 108627204 missense probably damaging 1.00
IGL03367:Wdr47 APN 3 108629773 splice site probably benign
R0025:Wdr47 UTSW 3 108637991 missense probably damaging 1.00
R0217:Wdr47 UTSW 3 108637020 missense probably damaging 0.96
R0733:Wdr47 UTSW 3 108618623 missense probably damaging 1.00
R1329:Wdr47 UTSW 3 108627299 missense probably benign 0.14
R1330:Wdr47 UTSW 3 108629753 missense probably benign 0.30
R1894:Wdr47 UTSW 3 108623376 missense possibly damaging 0.56
R2004:Wdr47 UTSW 3 108627442 nonsense probably null
R2040:Wdr47 UTSW 3 108623372 missense probably benign 0.01
R2242:Wdr47 UTSW 3 108619115 missense probably damaging 1.00
R3795:Wdr47 UTSW 3 108624737 critical splice donor site probably null
R5026:Wdr47 UTSW 3 108618522 nonsense probably null
R5732:Wdr47 UTSW 3 108633156 nonsense probably null
R5823:Wdr47 UTSW 3 108643085 missense probably damaging 1.00
R5838:Wdr47 UTSW 3 108624736 critical splice donor site probably null
R5890:Wdr47 UTSW 3 108610012 missense probably damaging 1.00
R5896:Wdr47 UTSW 3 108619006 missense probably damaging 1.00
R5898:Wdr47 UTSW 3 108637885 splice site probably null
R6778:Wdr47 UTSW 3 108633096 missense probably benign 0.16
R7019:Wdr47 UTSW 3 108614355 nonsense probably null
R7051:Wdr47 UTSW 3 108618524 missense probably damaging 1.00
R7535:Wdr47 UTSW 3 108629711 missense probably benign 0.01
R7642:Wdr47 UTSW 3 108643164 missense possibly damaging 0.47
R7709:Wdr47 UTSW 3 108618521 missense probably damaging 1.00
R8048:Wdr47 UTSW 3 108618968 missense probably damaging 0.99
X0062:Wdr47 UTSW 3 108619058 missense probably benign 0.01
Z1177:Wdr47 UTSW 3 108619114 missense probably damaging 1.00
Posted On2012-04-20