Incidental Mutation 'R1987:Wdr6'
ID 222684
Institutional Source Beutler Lab
Gene Symbol Wdr6
Ensembl Gene ENSMUSG00000066357
Gene Name WD repeat domain 6
Synonyms
MMRRC Submission 039999-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # R1987 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108449510-108455862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108453733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 50 (L50P)
Ref Sequence ENSEMBL: ENSMUSP00000070927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006853] [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000193427]
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 probably damaging
Transcript: ENSMUST00000068700
AA Change: L50P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: L50P

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 noncoding transcript
Transcript: ENSMUST00000193846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192651
Predicted Effect probably benign
Transcript: ENSMUST00000192518
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A T 19: 8,992,615 (GRCm39) D4633V probably damaging Het
Akap6 T C 12: 53,187,578 (GRCm39) F1664S possibly damaging Het
Arhgef28 T C 13: 98,103,604 (GRCm39) M803V probably benign Het
Bltp1 T A 3: 37,008,134 (GRCm39) probably null Het
Bltp2 A T 11: 78,158,993 (GRCm39) Q433L probably damaging Het
Ccdc73 T A 2: 104,761,390 (GRCm39) L130* probably null Het
Ccdc73 A G 2: 104,829,504 (GRCm39) E1059G probably damaging Het
Ccer2 A C 7: 28,456,708 (GRCm39) S151R possibly damaging Het
Cep128 T A 12: 91,197,603 (GRCm39) H406L probably benign Het
Cep135 A G 5: 76,745,275 (GRCm39) D229G probably benign Het
Cpvl T A 6: 53,931,596 (GRCm39) D103V probably benign Het
Crppa T A 12: 36,571,995 (GRCm39) L301Q probably damaging Het
Cstdc6 C A 16: 36,142,194 (GRCm39) G61C probably damaging Het
Disp3 G A 4: 148,343,210 (GRCm39) A567V probably damaging Het
Dnah5 T C 15: 28,343,737 (GRCm39) I2379T probably damaging Het
Dnah6 T C 6: 73,072,027 (GRCm39) Y2433C probably damaging Het
Dock3 A G 9: 106,985,620 (GRCm39) I85T probably benign Het
Dock9 A C 14: 121,829,242 (GRCm39) S1380A probably benign Het
Erbin T C 13: 104,022,711 (GRCm39) T43A probably benign Het
Fastkd3 T C 13: 68,733,360 (GRCm39) V502A possibly damaging Het
Fn1 T C 1: 71,690,784 (GRCm39) H59R probably damaging Het
Fsd2 A G 7: 81,209,407 (GRCm39) V145A possibly damaging Het
Fzr1 A G 10: 81,206,153 (GRCm39) V178A probably damaging Het
Gnpnat1 T C 14: 45,618,455 (GRCm39) R116G probably damaging Het
Grm7 T A 6: 110,891,472 (GRCm39) V235E probably damaging Het
Hdac4 A C 1: 91,862,367 (GRCm39) N1002K probably damaging Het
Hey1 C T 3: 8,729,957 (GRCm39) A167T probably benign Het
Hrnr A G 3: 93,239,911 (GRCm39) N3383S unknown Het
Ints2 A T 11: 86,108,626 (GRCm39) V907D probably benign Het
Jchain T A 5: 88,669,326 (GRCm39) Q109L probably damaging Het
Klhdc7a A T 4: 139,693,335 (GRCm39) Y537* probably null Het
Klra1 C T 6: 130,354,742 (GRCm39) S92N probably benign Het
Krt31 C T 11: 99,940,406 (GRCm39) G150S probably benign Het
Lrrc71 G A 3: 87,649,950 (GRCm39) T326M probably benign Het
Lrrn4 T C 2: 132,712,363 (GRCm39) T487A probably benign Het
Map4k5 T G 12: 69,889,686 (GRCm39) R198S probably damaging Het
Men1 G A 19: 6,388,867 (GRCm39) C354Y probably damaging Het
Ms4a18 A T 19: 10,991,019 (GRCm39) V25E probably damaging Het
Mutyh T A 4: 116,676,565 (GRCm39) S512R possibly damaging Het
Myh10 G T 11: 68,705,322 (GRCm39) A1947S possibly damaging Het
Nfasc T C 1: 132,538,624 (GRCm39) D427G probably damaging Het
Nlrp9c A G 7: 26,077,481 (GRCm39) M767T probably benign Het
Nrbp1 T C 5: 31,402,735 (GRCm39) L185P probably damaging Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Pcsk6 A T 7: 65,577,035 (GRCm39) M158L possibly damaging Het
Pkd1 G T 17: 24,795,566 (GRCm39) probably null Het
Plk4 A T 3: 40,760,252 (GRCm39) S383C possibly damaging Het
Plxna2 T C 1: 194,326,297 (GRCm39) L77P probably damaging Het
Pnpla6 A T 8: 3,592,370 (GRCm39) T1209S probably benign Het
Prdm2 A G 4: 142,859,079 (GRCm39) S1404P possibly damaging Het
Preb T C 5: 31,116,157 (GRCm39) D150G probably damaging Het
Prrt2 A G 7: 126,617,902 (GRCm39) V59A probably benign Het
Prss40 T C 1: 34,597,095 (GRCm39) N151S possibly damaging Het
Ptprt G T 2: 161,400,818 (GRCm39) A1053D probably damaging Het
Ptprt A G 2: 161,608,241 (GRCm39) V685A possibly damaging Het
Rfx4 C T 10: 84,731,952 (GRCm39) S549F possibly damaging Het
Rnaset2b T A 17: 7,263,876 (GRCm39) V87E probably benign Het
Rnf213 G A 11: 119,331,933 (GRCm39) E2381K probably damaging Het
Sectm1a A T 11: 120,960,506 (GRCm39) I103N probably damaging Het
Selp T A 1: 163,970,327 (GRCm39) L597Q probably damaging Het
Sema6a T C 18: 47,433,209 (GRCm39) D74G probably damaging Het
Serpinb9b T C 13: 33,213,542 (GRCm39) V33A probably benign Het
Setd1b A T 5: 123,285,769 (GRCm39) T272S unknown Het
Sgf29 G C 7: 126,248,649 (GRCm39) probably null Het
Slc4a10 C A 2: 62,098,548 (GRCm39) Q561K probably damaging Het
Slc4a5 T C 6: 83,250,214 (GRCm39) I649T possibly damaging Het
Slc5a7 A G 17: 54,600,863 (GRCm39) Y91H probably damaging Het
Styxl1 T C 5: 135,785,976 (GRCm39) Y23C probably damaging Het
Tbc1d24 A G 17: 24,425,846 (GRCm39) V490A possibly damaging Het
Tbpl2 A T 2: 23,984,744 (GRCm39) F133L probably benign Het
Tnfrsf22 T C 7: 143,192,126 (GRCm39) probably benign Het
Top2b A G 14: 16,398,916 (GRCm38) E512G probably damaging Het
Trgc3 C A 13: 19,445,164 (GRCm39) F37L probably damaging Het
Ttc17 T A 2: 94,194,690 (GRCm39) H561L probably benign Het
Ttll4 G T 1: 74,724,527 (GRCm39) V566L possibly damaging Het
Ubqlnl A G 7: 103,797,692 (GRCm39) Y602H probably benign Het
Vmn1r231 T A 17: 21,110,212 (GRCm39) E234D probably damaging Het
Wbp11 A G 6: 136,797,583 (GRCm39) S279P probably damaging Het
Zfp715 A C 7: 42,948,073 (GRCm39) I629S 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
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
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
Predicted Primers PCR Primer
(F):5'- CTCCCGAAGATGGCTTTGAC -3'
(R):5'- CTGACAGGAGTGTGCCTTTG -3'

Sequencing Primer
(F):5'- AAGATGGCTTTGACCCCAG -3'
(R):5'- CAGTTGAGGTCCGGCTGAAG -3'
Posted On 2014-08-25