Incidental Mutation 'IGL01757:Wdr6'
ID 153219
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 # IGL01757
Quality Score
Status
Chromosome 9
Chromosomal Location 108449510-108455862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108453427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 152 (V152A)
Ref Sequence ENSEMBL: ENSMUSP00000070927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006853] [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000193427] [ENSMUST00000195249]
AlphaFold Q99ME2
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: 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: V152A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: V152A

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 noncoding transcript
Transcript: ENSMUST00000191881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191897
Predicted Effect probably benign
Transcript: ENSMUST00000192518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192651
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 noncoding transcript
Transcript: ENSMUST00000193846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194900
Predicted Effect probably benign
Transcript: ENSMUST00000195249
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,639,705 (GRCm39) probably benign Het
Adamts9 T C 6: 92,773,140 (GRCm39) Y1789C probably damaging Het
Cdcp1 A T 9: 123,009,066 (GRCm39) Y537* probably null Het
Chic2 T C 5: 75,167,428 (GRCm39) probably benign Het
Cpa5 G A 6: 30,625,926 (GRCm39) probably benign Het
Csgalnact2 T C 6: 118,106,307 (GRCm39) R4G probably damaging Het
Dnah10 T A 5: 124,845,991 (GRCm39) V1510D probably benign Het
Dnm2 T A 9: 21,376,915 (GRCm39) F91L probably damaging Het
Eif2b1 T C 5: 124,711,203 (GRCm39) K189E probably benign Het
Fgf17 A T 14: 70,874,420 (GRCm39) L123Q probably damaging Het
Ifna15 T C 4: 88,476,322 (GRCm39) K54R possibly damaging Het
Isg15 A G 4: 156,284,301 (GRCm39) C76R probably damaging Het
Ldb2 A T 5: 44,699,209 (GRCm39) probably benign Het
Lig4 A G 8: 10,021,185 (GRCm39) I865T probably benign Het
Lrrc46 T C 11: 96,926,701 (GRCm39) Y154C probably damaging Het
Lrrc8a G A 2: 30,145,537 (GRCm39) R117H possibly damaging Het
Mrpl2 A G 17: 46,959,183 (GRCm39) I96V probably damaging Het
Mtif2 G A 11: 29,491,337 (GRCm39) probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Ptpn23 G A 9: 110,220,704 (GRCm39) R269W probably damaging Het
Senp2 T C 16: 21,828,414 (GRCm39) V8A probably benign Het
Slf1 T C 13: 77,232,559 (GRCm39) D515G probably benign Het
Spc25 G A 2: 69,032,952 (GRCm39) Q58* probably null Het
Sult2a5 T C 7: 13,399,079 (GRCm39) S229P probably damaging Het
Tfap2d A G 1: 19,174,804 (GRCm39) T86A probably benign Het
Trp53bp1 A G 2: 121,041,785 (GRCm39) V1257A probably damaging Het
Zdhhc7 A G 8: 120,814,662 (GRCm39) V49A probably benign Het
Zfp648 T C 1: 154,080,671 (GRCm39) S277P probably damaging Het
Other mutations in Wdr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Wdr6 APN 9 108,452,096 (GRCm39) missense possibly damaging 0.77
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
IGL03250:Wdr6 APN 9 108,450,396 (GRCm39) missense possibly damaging 0.95
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 2014-02-04