Incidental Mutation 'IGL03250:Wdr6'
ID 414533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr6
Ensembl Gene ENSMUSG00000066357
Gene Name WD repeat domain 6
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # IGL03250
Quality Score
Status
Chromosome 9
Chromosomal Location 108449510-108455862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108450396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1044 (V1044A)
Ref Sequence ENSEMBL: ENSMUSP00000070927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000193427] [ENSMUST00000195249]
AlphaFold Q99ME2
Predicted Effect probably benign
Transcript: ENSMUST00000019183
SMART Domains Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039

DomainStartEndE-ValueType
low complexity region 288 301 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
DALR_1 399 538 2.09e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000068700
AA Change: V1044A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: V1044A

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: ENSMUST00000083645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196210
Predicted Effect probably benign
Transcript: ENSMUST00000193427
SMART Domains Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
DALR_1 68 171 1.3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195249
Predicted Effect probably benign
Transcript: ENSMUST00000192518
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bnipl C T 3: 95,151,450 (GRCm39) probably benign Het
Calb2 G T 8: 110,869,739 (GRCm39) L265I probably benign Het
Cdhr4 C T 9: 107,873,858 (GRCm39) R442C probably damaging Het
Cep192 T C 18: 67,940,426 (GRCm39) V131A probably benign Het
Ctnnal1 G T 4: 56,812,356 (GRCm39) N723K probably benign Het
Dclre1b T C 3: 103,711,380 (GRCm39) probably null Het
Hdac4 A C 1: 91,862,322 (GRCm39) probably null Het
Mms19 A T 19: 41,942,903 (GRCm39) probably null Het
Myh7 A T 14: 55,229,704 (GRCm39) M113K probably damaging Het
Pkdrej T C 15: 85,705,556 (GRCm39) T127A possibly damaging Het
Plekhm3 A G 1: 64,977,206 (GRCm39) V88A possibly damaging Het
S100a7l2 T C 3: 90,997,715 (GRCm39) probably benign Het
Slc17a5 A G 9: 78,485,846 (GRCm39) S80P probably damaging Het
Suclg1 A G 6: 73,247,975 (GRCm39) N232S probably benign Het
Upk1a A T 7: 30,306,403 (GRCm39) V121E possibly damaging Het
Vmn1r70 C T 7: 10,368,208 (GRCm39) T232I probably damaging Het
Vmn2r4 G A 3: 64,314,063 (GRCm39) T306I probably damaging Het
Wdfy4 A T 14: 32,699,124 (GRCm39) M2524K probably damaging Het
Zfp809 A G 9: 22,149,931 (GRCm39) T143A possibly damaging Het
Other mutations in Wdr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Wdr6 APN 9 108,452,096 (GRCm39) missense possibly damaging 0.77
IGL01757:Wdr6 APN 9 108,453,427 (GRCm39) missense possibly damaging 0.65
IGL02096:Wdr6 APN 9 108,453,752 (GRCm39) missense probably damaging 1.00
IGL02577:Wdr6 APN 9 108,453,140 (GRCm39) missense possibly damaging 0.88
IGL02625:Wdr6 APN 9 108,452,704 (GRCm39) missense probably damaging 1.00
IGL02820:Wdr6 APN 9 108,455,743 (GRCm39) missense probably benign 0.28
PIT4802001:Wdr6 UTSW 9 108,451,765 (GRCm39) missense probably damaging 1.00
R0038:Wdr6 UTSW 9 108,450,168 (GRCm39) missense probably damaging 1.00
R0153:Wdr6 UTSW 9 108,452,441 (GRCm39) missense probably damaging 1.00
R0378:Wdr6 UTSW 9 108,453,063 (GRCm39) missense probably damaging 1.00
R0420:Wdr6 UTSW 9 108,450,300 (GRCm39) missense probably benign 0.41
R1620:Wdr6 UTSW 9 108,451,854 (GRCm39) missense possibly damaging 0.51
R1753:Wdr6 UTSW 9 108,452,363 (GRCm39) missense probably damaging 0.99
R1844:Wdr6 UTSW 9 108,453,176 (GRCm39) missense probably damaging 1.00
R1881:Wdr6 UTSW 9 108,450,378 (GRCm39) splice site probably null
R1987:Wdr6 UTSW 9 108,453,733 (GRCm39) missense probably damaging 1.00
R2029:Wdr6 UTSW 9 108,452,554 (GRCm39) missense probably damaging 1.00
R2139:Wdr6 UTSW 9 108,451,322 (GRCm39) missense probably benign 0.00
R3900:Wdr6 UTSW 9 108,452,968 (GRCm39) missense probably damaging 1.00
R4021:Wdr6 UTSW 9 108,452,405 (GRCm39) missense probably damaging 1.00
R4909:Wdr6 UTSW 9 108,450,187 (GRCm39) missense probably benign 0.28
R5073:Wdr6 UTSW 9 108,451,565 (GRCm39) missense probably damaging 1.00
R5748:Wdr6 UTSW 9 108,452,981 (GRCm39) missense possibly damaging 0.75
R6039:Wdr6 UTSW 9 108,450,994 (GRCm39) frame shift probably null
R6039:Wdr6 UTSW 9 108,450,994 (GRCm39) frame shift probably null
R6254:Wdr6 UTSW 9 108,452,110 (GRCm39) missense probably damaging 1.00
R6724:Wdr6 UTSW 9 108,452,093 (GRCm39) missense probably benign 0.11
R7134:Wdr6 UTSW 9 108,450,564 (GRCm39) missense probably damaging 1.00
R7248:Wdr6 UTSW 9 108,453,238 (GRCm39) missense possibly damaging 0.82
R7296:Wdr6 UTSW 9 108,451,784 (GRCm39) missense probably damaging 1.00
R7388:Wdr6 UTSW 9 108,451,971 (GRCm39) missense probably damaging 1.00
R7443:Wdr6 UTSW 9 108,451,489 (GRCm39) missense probably damaging 1.00
R7467:Wdr6 UTSW 9 108,450,201 (GRCm39) missense probably benign 0.14
R7672:Wdr6 UTSW 9 108,450,947 (GRCm39) missense probably benign 0.06
R7699:Wdr6 UTSW 9 108,453,560 (GRCm39) missense possibly damaging 0.92
R7700:Wdr6 UTSW 9 108,453,560 (GRCm39) missense possibly damaging 0.92
R8559:Wdr6 UTSW 9 108,452,593 (GRCm39) missense probably benign 0.34
R9076:Wdr6 UTSW 9 108,451,627 (GRCm39) missense probably benign 0.18
R9273:Wdr6 UTSW 9 108,450,691 (GRCm39) missense probably benign 0.00
R9486:Wdr6 UTSW 9 108,453,182 (GRCm39) missense probably damaging 1.00
R9488:Wdr6 UTSW 9 108,453,182 (GRCm39) missense probably damaging 1.00
R9679:Wdr6 UTSW 9 108,450,358 (GRCm39) missense probably benign 0.27
Posted On 2016-08-02