Incidental Mutation 'R6254:Wdr6'
ID 506002
Institutional Source Beutler Lab
Gene Symbol Wdr6
Ensembl Gene ENSMUSG00000066357
Gene Name WD repeat domain 6
Synonyms
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108449510-108455862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108452110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 591 (Y591C)
Ref Sequence ENSEMBL: ENSMUSP00000070927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006853] [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000195249] [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: Y591C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: Y591C

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: ENSMUST00000192651
Predicted Effect probably benign
Transcript: ENSMUST00000195249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193044
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: ENSMUST00000192518
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L probably 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
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
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'- GCCTCAGTATCAGAAAAGGCC -3'
(R):5'- GCTATTACTGCAGCTGAGGC -3'

Sequencing Primer
(F):5'- CACAGTTGACGATATGCAGCTTC -3'
(R):5'- TATTACTGCAGCTGAGGCACCTG -3'
Posted On 2018-02-28