Incidental Mutation 'IGL01730:Wdr47'
ID105454
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 #IGL01730
Quality Score
Status
Chromosome3
Chromosomal Location108591279-108645719 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108611396 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 67 (F67L)
Ref Sequence ENSEMBL: ENSMUSP00000057482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051145] [ENSMUST00000124731]
Predicted Effect probably damaging
Transcript: ENSMUST00000051145
AA Change: F67L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: F67L

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 probably benign
Transcript: ENSMUST00000124731
SMART Domains Protein: ENSMUSP00000143335
Gene: ENSMUSG00000040389

DomainStartEndE-ValueType
LisH 10 42 2.7e-6 SMART
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 35,962,239 E287G probably damaging Het
Bhmt A T 13: 93,625,409 V122E probably damaging Het
Camta1 A G 4: 151,062,845 I585T probably damaging Het
Cfap221 A G 1: 119,934,111 S645P probably benign Het
Derl1 A T 15: 57,892,147 F50Y possibly damaging Het
Dhrs3 T C 4: 144,919,472 S117P probably damaging Het
E2f8 A T 7: 48,877,934 probably benign Het
Fam46b A T 4: 133,486,522 probably null Het
Fbn1 A T 2: 125,312,974 probably benign Het
Fbxo15 A G 18: 84,964,174 I250M probably benign Het
Ghr A T 15: 3,320,584 S371T probably damaging Het
Gm5884 A T 6: 128,645,706 noncoding transcript Het
Grhl2 T C 15: 37,337,774 V496A probably benign Het
Gsap A G 5: 21,290,154 probably benign Het
Irak3 T C 10: 120,178,100 D148G probably benign Het
Itga2 A T 13: 114,854,411 probably benign Het
Kif13b T C 14: 64,750,361 probably null Het
Kif20b A T 19: 34,950,523 K1022* probably null Het
Klhl17 G T 4: 156,231,700 S399* probably null Het
Lcp2 A T 11: 34,050,943 D42V possibly damaging Het
Lin7c G T 2: 109,896,440 G145* probably null Het
Lrba A G 3: 86,741,424 D2493G possibly damaging Het
Mobp A G 9: 120,167,926 D41G probably damaging Het
Mycbp2 G A 14: 103,135,204 Q785* probably null Het
Myl6b T C 10: 128,496,342 Y85C possibly damaging Het
Nup133 G T 8: 123,938,233 H240N probably benign Het
Olfr1448 A C 19: 12,919,562 F249C probably damaging Het
Plk4 T C 3: 40,805,850 S394P probably benign Het
Prepl A G 17: 85,081,175 Y167H possibly damaging Het
Prkab1 A G 5: 116,021,492 L105P probably damaging Het
Ryr2 T A 13: 11,601,842 I3897L possibly damaging Het
Sema3c A G 5: 17,711,436 S469G probably benign Het
Serpinb3c T A 1: 107,273,184 S168C probably damaging Het
Snapc4 A T 2: 26,363,724 probably null Het
Sorcs2 A T 5: 36,047,809 M528K probably damaging Het
Spink10 T A 18: 62,651,745 probably null Het
Thsd7a C A 6: 12,554,981 Q301H probably benign Het
Tmem135 A T 7: 89,148,044 F335I possibly damaging Het
Tshr A T 12: 91,519,303 D217V possibly damaging Het
Ttyh1 G A 7: 4,125,721 V206M possibly damaging Het
Tusc3 T G 8: 39,164,839 *348G probably null Het
Vmn2r76 G A 7: 86,230,198 T298I probably benign Het
Other mutations in Wdr47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Wdr47 APN 3 108618734 missense probably benign 0.04
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 On2014-01-21