Incidental Mutation 'IGL02820:Wdr6'
ID360966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr6
Ensembl Gene ENSMUSG00000066357
Gene NameWD repeat domain 6
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.431) question?
Stock #IGL02820
Quality Score
Status
Chromosome9
Chromosomal Location108572311-108578739 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108578544 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 17 (I17T)
Ref Sequence ENSEMBL: ENSMUSP00000070927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006853] [ENSMUST00000068700] [ENSMUST00000193621]
Predicted Effect probably benign
Transcript: ENSMUST00000006853
SMART Domains Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675

DomainStartEndE-ValueType
transmembrane domain 61 83 N/A INTRINSIC
P4Hc 143 460 1.26e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068700
AA Change: I17T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: I17T

DomainStartEndE-ValueType
Blast:WD40 109 142 3e-6 BLAST
WD40 198 237 1.42e-4 SMART
WD40 247 284 7.28e-2 SMART
WD40 286 326 1.72e-3 SMART
Blast:WD40 336 375 3e-13 BLAST
WD40 479 519 2.96e1 SMART
low complexity region 537 552 N/A INTRINSIC
WD40 559 598 1.77e2 SMART
Blast:WD40 600 641 7e-20 BLAST
Blast:WD40 764 815 2e-22 BLAST
Blast:WD40 855 896 2e-11 BLAST
WD40 900 949 1.48e1 SMART
WD40 973 1015 5.52e-2 SMART
WD40 1035 1076 3.98e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191674
Predicted Effect probably benign
Transcript: ENSMUST00000192080
Predicted Effect probably benign
Transcript: ENSMUST00000193621
SMART Domains Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675

DomainStartEndE-ValueType
transmembrane domain 61 83 N/A INTRINSIC
Blast:P4Hc 143 211 5e-39 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195181
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,074,416 Y86C probably benign Het
Adgra2 G A 8: 27,117,507 V47M probably damaging Het
Anks1b T C 10: 90,077,059 C349R possibly damaging Het
Anks4b A T 7: 120,182,691 probably benign Het
Apobec2 A G 17: 48,423,267 S124P probably damaging Het
Brd8 G A 18: 34,607,301 S493L probably benign Het
Cbln3 A G 14: 55,883,487 Y126H probably damaging Het
Ccdc138 T C 10: 58,528,899 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ceacam2 T A 7: 25,519,986 H283L probably damaging Het
Clasp1 A G 1: 118,551,104 D718G possibly damaging Het
Clmn A T 12: 104,773,234 Y979N probably damaging Het
Ddias T C 7: 92,859,343 T455A probably benign Het
Dennd5b T C 6: 149,019,342 R851G probably null Het
Dock1 T C 7: 135,167,215 V1771A probably benign Het
Dysf T A 6: 84,100,205 L694Q probably damaging Het
Faim2 T C 15: 99,521,257 Y77C probably benign Het
Fbxw22 A T 9: 109,386,664 I172N probably damaging Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Fyb T G 15: 6,658,559 V800G possibly damaging Het
Gcm1 T C 9: 78,064,562 F262L probably benign Het
Gm21983 T C 7: 27,180,180 M121V probably benign Het
Gm9996 A T 10: 29,143,661 probably benign Het
Gstm3 A T 3: 107,968,758 probably benign Het
Gsto2 G T 19: 47,874,959 E91D probably damaging Het
Hs6st3 G T 14: 119,139,080 M222I possibly damaging Het
Ighv3-6 T C 12: 114,288,230 D90G probably damaging Het
Itgb1bp1 C T 12: 21,276,853 A40T possibly damaging Het
Kcns3 C T 12: 11,091,871 E276K probably benign Het
Lamc3 C T 2: 31,923,022 R1007C probably damaging Het
Lnx2 A T 5: 147,042,067 M125K probably damaging Het
Lyst T A 13: 13,638,058 N1018K probably benign Het
Mctp2 T A 7: 72,245,542 S186C probably damaging Het
Mettl7a1 C A 15: 100,305,052 S51* probably null Het
Olfr352 A T 2: 36,869,859 T98S probably benign Het
Polg T C 7: 79,459,771 T433A possibly damaging Het
Rdh13 C T 7: 4,435,060 V127M probably damaging Het
Rdh16 A G 10: 127,813,601 T309A probably benign Het
Reep5 A T 18: 34,373,259 D21E probably benign Het
Rptn A T 3: 93,396,920 N520I probably benign Het
Rttn T C 18: 89,028,998 L928P probably damaging Het
Slc44a2 A G 9: 21,342,977 I212V probably benign Het
Snupn A G 9: 56,963,048 T71A probably benign Het
Ssu2 T C 6: 112,382,392 N89S probably benign Het
Thsd7a A G 6: 12,321,072 S1535P probably damaging Het
Uba7 A T 9: 107,981,516 S849C probably benign Het
Vmn2r80 A G 10: 79,171,605 T472A probably benign Het
Wdr66 A G 5: 123,254,636 probably benign Het
Xkr9 G A 1: 13,700,949 V230I probably benign Het
Other mutations in Wdr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Wdr6 APN 9 108574897 missense possibly damaging 0.77
IGL01757:Wdr6 APN 9 108576228 missense possibly damaging 0.65
IGL02096:Wdr6 APN 9 108576553 missense probably damaging 1.00
IGL02577:Wdr6 APN 9 108575941 missense possibly damaging 0.88
IGL02625:Wdr6 APN 9 108575505 missense probably damaging 1.00
IGL03250:Wdr6 APN 9 108573197 missense possibly damaging 0.95
PIT4802001:Wdr6 UTSW 9 108574566 missense probably damaging 1.00
R0038:Wdr6 UTSW 9 108572969 missense probably damaging 1.00
R0153:Wdr6 UTSW 9 108575242 missense probably damaging 1.00
R0378:Wdr6 UTSW 9 108575864 missense probably damaging 1.00
R0420:Wdr6 UTSW 9 108573101 missense probably benign 0.41
R1620:Wdr6 UTSW 9 108574655 missense possibly damaging 0.51
R1753:Wdr6 UTSW 9 108575164 missense probably damaging 0.99
R1844:Wdr6 UTSW 9 108575977 missense probably damaging 1.00
R1881:Wdr6 UTSW 9 108573179 unclassified probably null
R1987:Wdr6 UTSW 9 108576534 missense probably damaging 1.00
R2029:Wdr6 UTSW 9 108575355 missense probably damaging 1.00
R2139:Wdr6 UTSW 9 108574123 missense probably benign 0.00
R3900:Wdr6 UTSW 9 108575769 missense probably damaging 1.00
R4021:Wdr6 UTSW 9 108575206 missense probably damaging 1.00
R4909:Wdr6 UTSW 9 108572988 missense probably benign 0.28
R5073:Wdr6 UTSW 9 108574366 missense probably damaging 1.00
R5748:Wdr6 UTSW 9 108575782 missense possibly damaging 0.75
R6039:Wdr6 UTSW 9 108573795 frame shift probably null
R6039:Wdr6 UTSW 9 108573795 frame shift probably null
R6254:Wdr6 UTSW 9 108574911 missense probably damaging 1.00
R6724:Wdr6 UTSW 9 108574894 missense probably benign 0.11
R7134:Wdr6 UTSW 9 108573365 missense probably damaging 1.00
R7248:Wdr6 UTSW 9 108576039 missense possibly damaging 0.82
R7296:Wdr6 UTSW 9 108574585 missense probably damaging 1.00
R7388:Wdr6 UTSW 9 108574772 missense probably damaging 1.00
R7443:Wdr6 UTSW 9 108574290 missense probably damaging 1.00
R7467:Wdr6 UTSW 9 108573002 missense probably benign 0.14
R7672:Wdr6 UTSW 9 108573748 missense probably benign 0.06
R7699:Wdr6 UTSW 9 108576361 missense possibly damaging 0.92
R7700:Wdr6 UTSW 9 108576361 missense possibly damaging 0.92
Posted On2015-12-18