Incidental Mutation 'IGL00576:Wdr47'
ID 6778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr47
Ensembl Gene ENSMUSG00000040389
Gene Name WD repeat domain 47
Synonyms nemitin, 1810073M12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00576
Quality Score
Status
Chromosome 3
Chromosomal Location 108498595-108553035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108526050 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8CGF6
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: 28,632,729 (GRCm39) L316P probably damaging Het
Ampd3 C T 7: 110,388,028 (GRCm39) probably benign Het
Arhgap42 C A 9: 8,997,621 (GRCm39) E835* probably null Het
Arid2 G A 15: 96,254,639 (GRCm39) V162M probably damaging Het
Atp2a2 C T 5: 122,596,146 (GRCm39) probably null Het
Bmper A G 9: 23,317,899 (GRCm39) D506G probably damaging Het
Clca4b A G 3: 144,631,108 (GRCm39) F251L probably damaging Het
Col12a1 T C 9: 79,554,934 (GRCm39) D2048G probably damaging Het
Dnhd1 G A 7: 105,341,882 (GRCm39) S1227N probably damaging Het
Dpp8 T A 9: 64,951,111 (GRCm39) H182Q probably benign Het
Drosha A G 15: 12,883,280 (GRCm39) K798E probably damaging Het
Gbp8 A G 5: 105,165,754 (GRCm39) probably benign Het
Hectd1 A G 12: 51,806,092 (GRCm39) I1843T probably damaging Het
Kansl1l T C 1: 66,763,733 (GRCm39) N772S possibly damaging Het
Lrrc37 A G 11: 103,508,212 (GRCm39) probably benign Het
Ndst2 T C 14: 20,774,552 (GRCm39) R835G probably benign Het
Psme4 T C 11: 30,773,145 (GRCm39) V836A possibly damaging Het
Ptpn21 G A 12: 98,699,860 (GRCm39) S18F probably damaging Het
Reln T C 5: 22,359,948 (GRCm39) H192R probably benign Het
Tcf20 A G 15: 82,740,276 (GRCm39) F392L probably damaging Het
Ttc21a T C 9: 119,794,885 (GRCm39) F1024L probably damaging Het
Vezf1 T A 11: 87,964,470 (GRCm39) C19* probably null Het
Zfp7 T G 15: 76,775,101 (GRCm39) probably benign Het
Zfp933 A T 4: 147,910,778 (GRCm39) C273S probably damaging Het
Other mutations in Wdr47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Wdr47 APN 3 108,518,712 (GRCm39) missense probably damaging 1.00
IGL01821:Wdr47 APN 3 108,534,520 (GRCm39) missense probably damaging 1.00
IGL03367:Wdr47 APN 3 108,537,089 (GRCm39) splice site probably benign
R0025:Wdr47 UTSW 3 108,545,307 (GRCm39) missense probably damaging 1.00
R0217:Wdr47 UTSW 3 108,544,336 (GRCm39) missense probably damaging 0.96
R0733:Wdr47 UTSW 3 108,525,939 (GRCm39) missense probably damaging 1.00
R1329:Wdr47 UTSW 3 108,534,615 (GRCm39) missense probably benign 0.14
R1330:Wdr47 UTSW 3 108,537,069 (GRCm39) missense probably benign 0.30
R1894:Wdr47 UTSW 3 108,530,692 (GRCm39) missense possibly damaging 0.56
R2004:Wdr47 UTSW 3 108,534,758 (GRCm39) nonsense probably null
R2040:Wdr47 UTSW 3 108,530,688 (GRCm39) missense probably benign 0.01
R2242:Wdr47 UTSW 3 108,526,431 (GRCm39) missense probably damaging 1.00
R3795:Wdr47 UTSW 3 108,532,053 (GRCm39) critical splice donor site probably null
R5026:Wdr47 UTSW 3 108,525,838 (GRCm39) nonsense probably null
R5732:Wdr47 UTSW 3 108,540,472 (GRCm39) nonsense probably null
R5823:Wdr47 UTSW 3 108,550,401 (GRCm39) missense probably damaging 1.00
R5838:Wdr47 UTSW 3 108,532,052 (GRCm39) critical splice donor site probably null
R5890:Wdr47 UTSW 3 108,517,328 (GRCm39) missense probably damaging 1.00
R5896:Wdr47 UTSW 3 108,526,322 (GRCm39) missense probably damaging 1.00
R5898:Wdr47 UTSW 3 108,545,201 (GRCm39) splice site probably null
R6778:Wdr47 UTSW 3 108,540,412 (GRCm39) missense probably benign 0.16
R7019:Wdr47 UTSW 3 108,521,671 (GRCm39) nonsense probably null
R7051:Wdr47 UTSW 3 108,525,840 (GRCm39) missense probably damaging 1.00
R7535:Wdr47 UTSW 3 108,537,027 (GRCm39) missense probably benign 0.01
R7642:Wdr47 UTSW 3 108,550,480 (GRCm39) missense possibly damaging 0.47
R7709:Wdr47 UTSW 3 108,525,837 (GRCm39) missense probably damaging 1.00
R8048:Wdr47 UTSW 3 108,526,284 (GRCm39) missense probably damaging 0.99
R8868:Wdr47 UTSW 3 108,498,841 (GRCm39) start gained probably benign
R8944:Wdr47 UTSW 3 108,550,480 (GRCm39) missense possibly damaging 0.47
R9123:Wdr47 UTSW 3 108,526,106 (GRCm39) missense probably damaging 1.00
R9125:Wdr47 UTSW 3 108,526,106 (GRCm39) missense probably damaging 1.00
R9217:Wdr47 UTSW 3 108,525,890 (GRCm39) missense probably damaging 1.00
R9268:Wdr47 UTSW 3 108,525,812 (GRCm39) missense probably benign
R9485:Wdr47 UTSW 3 108,544,371 (GRCm39) missense probably damaging 1.00
R9611:Wdr47 UTSW 3 108,518,729 (GRCm39) missense probably damaging 1.00
X0062:Wdr47 UTSW 3 108,526,374 (GRCm39) missense probably benign 0.01
Z1177:Wdr47 UTSW 3 108,526,430 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20