Incidental Mutation 'R7443:Wdr6'
ID 577100
Institutional Source Beutler Lab
Gene Symbol Wdr6
Ensembl Gene ENSMUSG00000066357
Gene Name WD repeat domain 6
Synonyms
MMRRC Submission 045519-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # R7443 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108449510-108455862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108451489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 798 (L798P)
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 probably damaging
Transcript: ENSMUST00000068700
AA Change: L798P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: L798P

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000195249
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,452,951 (GRCm39) I162T probably damaging Het
Acaca G A 11: 84,206,619 (GRCm39) S1493N probably benign Het
Arf2 T A 11: 103,859,976 (GRCm39) M18K probably benign Het
Bag5 A G 12: 111,677,161 (GRCm39) S221P probably damaging Het
Bcr T C 10: 74,978,968 (GRCm39) probably null Het
Btg2 T A 1: 134,005,433 (GRCm39) K51* probably null Het
Chrne A G 11: 70,509,092 (GRCm39) V130A probably benign Het
Cracd T C 5: 77,004,485 (GRCm39) V282A unknown Het
Cubn T A 2: 13,460,320 (GRCm39) D714V probably damaging Het
Cyp4a29 A T 4: 115,105,756 (GRCm39) I153F probably damaging Het
Dph7 C A 2: 24,852,505 (GRCm39) H5Q probably benign Het
Epha6 T C 16: 59,595,988 (GRCm39) N901S possibly damaging Het
Exosc9 C A 3: 36,607,990 (GRCm39) P66Q probably damaging Het
Foxn3 T C 12: 99,355,038 (GRCm39) D42G possibly damaging Het
Gbp11 A G 5: 105,478,816 (GRCm39) probably null Het
Gm3264 A T 14: 16,058,304 (GRCm39) Y37F probably damaging Het
H2-M10.2 T A 17: 36,596,945 (GRCm39) I44F probably benign Het
Hemgn A T 4: 46,396,145 (GRCm39) F364I probably damaging Het
Hnf4a A G 2: 163,400,932 (GRCm39) I184V probably benign Het
Ighe G T 12: 113,235,785 (GRCm39) C180* probably null Het
Iigp1c A T 18: 60,379,122 (GRCm39) N219I probably benign Het
Klk1b22 T A 7: 43,765,534 (GRCm39) I162K probably benign Het
Lmo3 C T 6: 138,354,220 (GRCm39) A104T probably damaging Het
Lsm14a A G 7: 34,053,263 (GRCm39) V263A probably benign Het
Ltbp1 T C 17: 75,671,432 (GRCm39) Y1538H probably damaging Het
Ly6g6g T C 15: 74,647,249 (GRCm39) E32G Het
Map9 A G 3: 82,278,663 (GRCm39) E221G possibly damaging Het
Mccc2 G A 13: 100,130,144 (GRCm39) A71V possibly damaging Het
Mdc1 T A 17: 36,161,712 (GRCm39) V875E probably damaging Het
Mier2 A T 10: 79,376,289 (GRCm39) I212N unknown Het
Mitd1 T C 1: 37,920,117 (GRCm39) T164A probably benign Het
Myh1 T C 11: 67,111,331 (GRCm39) I1590T probably benign Het
Mylk2 T G 2: 152,753,346 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,652 (GRCm39) V118E probably benign Het
Nynrin G A 14: 56,108,873 (GRCm39) V1327I probably benign Het
Oas1c C A 5: 120,943,484 (GRCm39) K218N probably damaging Het
Or11g24 A G 14: 50,662,507 (GRCm39) D177G probably damaging Het
Or13a18 A G 7: 140,190,961 (GRCm39) N286S probably damaging Het
Or1e23 A T 11: 73,407,674 (GRCm39) V117D possibly damaging Het
Or4a80 T A 2: 89,582,285 (GRCm39) M296L probably benign Het
Or5g26 T A 2: 85,493,912 (GRCm39) I289F probably damaging Het
Or5h17 T A 16: 58,820,353 (GRCm39) F102I probably damaging Het
Otoa A T 7: 120,731,633 (GRCm39) M618L probably benign Het
P3r3urf G A 4: 116,030,664 (GRCm39) G23R probably benign Het
Plcg2 A T 8: 118,231,028 (GRCm39) T37S probably benign Het
Plekhg4 T C 8: 106,107,499 (GRCm39) L1010P probably damaging Het
Plxnb1 T C 9: 108,943,675 (GRCm39) F1921L probably damaging Het
Prss47 T A 13: 65,197,303 (GRCm39) K144N probably damaging Het
Rapgef2 T C 3: 78,988,531 (GRCm39) K953E probably damaging Het
Rasip1 T A 7: 45,288,148 (GRCm39) I909N probably damaging Het
Rps5 A G 7: 12,656,922 (GRCm39) T8A probably benign Het
Rsbn1l T C 5: 21,132,621 (GRCm39) K213E possibly damaging Het
Serpinb5 T C 1: 106,809,700 (GRCm39) F369L probably benign Het
Slc4a5 T C 6: 83,241,297 (GRCm39) V306A probably benign Het
Sox13 T C 1: 133,312,369 (GRCm39) Y465C probably damaging Het
Sox13 C A 1: 133,312,311 (GRCm39) K484N probably damaging Het
Stx3 A G 19: 11,769,208 (GRCm39) I39T possibly damaging Het
Tbc1d5 T C 17: 51,273,763 (GRCm39) Y116C probably damaging Het
Tcp11l1 T A 2: 104,514,480 (GRCm39) Q429L probably benign Het
Tns3 G A 11: 8,401,442 (GRCm39) T952I probably benign Het
Trib3 T C 2: 152,181,692 (GRCm39) H176R possibly damaging Het
Trim12a A G 7: 103,950,049 (GRCm39) Y297H probably damaging Het
Unc13a A G 8: 72,083,603 (GRCm39) V1577A probably damaging Het
Vezf1 C A 11: 87,965,489 (GRCm39) P244T probably damaging Het
Vmn1r121 T A 7: 20,831,945 (GRCm39) D165V probably damaging Het
Vmn2r117 T A 17: 23,679,107 (GRCm39) I706F probably benign Het
Vmn2r117 C T 17: 23,679,319 (GRCm39) C635Y probably damaging Het
Vmn2r13 T A 5: 109,339,909 (GRCm39) H22L probably benign Het
Vmn2r87 A T 10: 130,308,588 (GRCm39) M550K probably damaging Het
Wtap C T 17: 13,199,821 (GRCm39) G54D probably benign Het
Zfp827 A G 8: 79,917,047 (GRCm39) S541G Het
Zkscan3 A T 13: 21,572,608 (GRCm39) Y341* probably null 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
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
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'- GGTCCACCTTGATCATCTTGTG -3'
(R):5'- CAACTTGGAGCATCCTGACTCC -3'

Sequencing Primer
(F):5'- GATCATCTTGTGCTTGTTCCG -3'
(R):5'- AGCATCCTGACTCCCTGGAG -3'
Posted On 2019-10-07