Incidental Mutation 'R5223:Wdr26'
ID402404
Institutional Source Beutler Lab
Gene Symbol Wdr26
Ensembl Gene ENSMUSG00000038733
Gene NameWD repeat domain 26
SynonymsGid7, 1600024A01Rik
MMRRC Submission 042796-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.855) question?
Stock #R5223 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location181173228-181211552 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 181187686 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 371 (I371V)
Ref Sequence ENSEMBL: ENSMUSP00000124186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162819] [ENSMUST00000162963]
Predicted Effect probably benign
Transcript: ENSMUST00000036329
SMART Domains Protein: ENSMUSP00000045177
Gene: ENSMUSG00000038733

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
low complexity region 43 70 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
LisH 100 132 9.73e-1 SMART
Blast:CTLH 133 183 6e-28 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159290
SMART Domains Protein: ENSMUSP00000123863
Gene: ENSMUSG00000038733

DomainStartEndE-ValueType
WD40 14 56 2.77e-1 SMART
WD40 59 99 3.83e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159625
Predicted Effect probably benign
Transcript: ENSMUST00000159673
SMART Domains Protein: ENSMUSP00000125023
Gene: ENSMUSG00000038733

DomainStartEndE-ValueType
Blast:WD40 2 38 4e-12 BLAST
WD40 41 83 2.77e-1 SMART
WD40 86 126 3.83e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159698
Predicted Effect probably benign
Transcript: ENSMUST00000162819
AA Change: I387V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
AA Change: I387V

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 46 73 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
LisH 103 135 9.73e-1 SMART
CTLH 136 211 2.41e-5 SMART
low complexity region 276 287 N/A INTRINSIC
WD40 324 363 4.76e-6 SMART
WD40 370 411 1.35e-5 SMART
WD40 414 454 2.12e-3 SMART
WD40 537 579 2.77e-1 SMART
WD40 582 622 3.83e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162963
AA Change: I371V

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
AA Change: I371V

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 46 73 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
LisH 103 135 9.73e-1 SMART
CTLH 136 195 4.97e-7 SMART
low complexity region 260 271 N/A INTRINSIC
WD40 308 347 4.76e-6 SMART
WD40 354 395 1.35e-5 SMART
WD40 398 438 2.12e-3 SMART
WD40 521 563 2.77e-1 SMART
WD40 566 606 3.83e-10 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
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. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 120,013,452 V273M possibly damaging Het
Acin1 CCGC CC 14: 54,642,941 probably null Het
Acvr1b T A 15: 101,193,976 C46S probably damaging Het
Ahi1 A T 10: 20,970,919 H416L possibly damaging Het
Aspm T A 1: 139,478,334 L1653Q probably damaging Het
Cacna1a G A 8: 84,587,195 V1533M possibly damaging Het
Ccdc33 C T 9: 58,032,984 E502K possibly damaging Het
Ctnnd1 C T 2: 84,616,789 V371M probably damaging Het
Cyp2a12 A T 7: 27,036,463 probably null Het
Ep400 A G 5: 110,668,630 V2675A probably damaging Het
Foxh1 T A 15: 76,668,729 probably null Het
Gad1-ps G A 10: 99,445,147 noncoding transcript Het
Gm10093 A G 17: 78,492,438 E286G probably benign Het
Gm13078 T A 4: 143,728,021 S296R probably benign Het
Gpnmb C T 6: 49,056,205 T539M probably benign Het
Hspa9 A G 18: 34,952,671 probably null Het
Hspg2 T C 4: 137,543,914 L2454P probably damaging Het
Ift140 T A 17: 25,035,812 I422N probably benign Het
Igkv6-32 T C 6: 70,074,223 S50G probably benign Het
Il23r T A 6: 67,486,170 Y113F probably benign Het
Kcnt1 A G 2: 25,903,422 D636G probably benign Het
Klhl41 G A 2: 69,679,827 W569* probably null Het
Klra4 T A 6: 130,062,147 D94V probably damaging Het
Lca5 T A 9: 83,398,613 H378L probably benign Het
Lhx8 T A 3: 154,321,644 T254S probably damaging Het
Lrch3 C T 16: 32,914,397 R86W probably damaging Het
Lrp2 T A 2: 69,524,053 N477I probably damaging Het
Man2a1 T A 17: 64,712,271 I710K probably benign Het
Ncor1 A T 11: 62,339,000 Y881N probably damaging Het
Nhsl1 T A 10: 18,526,326 V1100E probably damaging Het
Olfr1208 T C 2: 88,897,334 T88A probably benign Het
Olfr486 A G 7: 108,172,708 V12A probably benign Het
Olfr855 T C 9: 19,585,026 V163A probably benign Het
Oprk1 T C 1: 5,589,296 V83A probably benign Het
Pacs1 C T 19: 5,145,141 V472I probably benign Het
Pard3b T C 1: 62,344,113 Y789H probably damaging Het
Pcdha2 T C 18: 36,940,791 Y492H probably damaging Het
Pcnt T C 10: 76,380,272 N2261D probably damaging Het
Pex5l A T 3: 32,958,796 S15T probably damaging Het
Plekhg4 A G 8: 105,378,949 N682S probably benign Het
Poc5 A T 13: 96,402,955 M335L probably benign Het
Polr1a C T 6: 71,967,907 R1316W possibly damaging Het
Pp2d1 T C 17: 53,507,845 H617R probably benign Het
Prpsap1 T C 11: 116,488,148 K65E probably benign Het
Ptgfrn T C 3: 101,045,593 E775G probably benign Het
Ptprc T A 1: 138,117,862 I87F probably benign Het
Rbbp8 C A 18: 11,721,690 A324E probably benign Het
Rfx6 G T 10: 51,677,996 G63* probably null Het
Rpl37a T C 1: 72,712,149 M47T probably benign Het
Samm50 T G 15: 84,200,630 N187K probably benign Het
Skiv2l A G 17: 34,845,166 probably null Het
Slamf9 T C 1: 172,476,232 I48T possibly damaging Het
Slc2a12 A G 10: 22,702,032 K576E probably damaging Het
Slc4a10 G A 2: 62,253,366 G388S probably damaging Het
Smtn G T 11: 3,529,530 N512K probably benign Het
Sntb1 C G 15: 55,642,795 G461R probably damaging Het
Sspo A G 6: 48,478,324 Y3040C probably damaging Het
Stat1 T A 1: 52,144,242 V389E probably damaging Het
Sult5a1 A T 8: 123,145,422 M227K probably damaging Het
Thsd4 T C 9: 60,057,042 D389G probably damaging Het
Tnxb T C 17: 34,704,078 V2545A possibly damaging Het
Tpo T A 12: 30,092,590 I712F probably damaging Het
Trim62 T C 4: 128,909,411 V418A probably damaging Het
Uqcrc1 C A 9: 108,942,156 H95N probably damaging Het
Vmn2r114 ATTT ATT 17: 23,290,932 probably null Het
Vmn2r66 T C 7: 85,007,885 D104G probably benign Het
Wdr78 T A 4: 103,049,403 S738C possibly damaging Het
Zfp273 T G 13: 67,826,179 C475W probably damaging Het
Zfp738 G T 13: 67,673,063 T55K probably damaging Het
Zmym2 A G 14: 56,946,514 I978V probably benign Het
Other mutations in Wdr26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Wdr26 APN 1 181191816 missense possibly damaging 0.86
IGL01941:Wdr26 APN 1 181211070 splice site probably benign
IGL02612:Wdr26 APN 1 181177796 utr 3 prime probably benign
IGL02660:Wdr26 APN 1 181198898 missense probably damaging 1.00
IGL02685:Wdr26 APN 1 181183780 missense possibly damaging 0.64
IGL02884:Wdr26 APN 1 181182784 missense probably damaging 1.00
R0396:Wdr26 UTSW 1 181180651 intron probably benign
R0453:Wdr26 UTSW 1 181182879 nonsense probably null
R0530:Wdr26 UTSW 1 181186070 splice site probably null
R0729:Wdr26 UTSW 1 181185905 intron probably null
R1170:Wdr26 UTSW 1 181181294 splice site probably benign
R1466:Wdr26 UTSW 1 181185934 splice site probably benign
R1830:Wdr26 UTSW 1 181191775 missense probably damaging 1.00
R2883:Wdr26 UTSW 1 181211120 missense probably damaging 0.99
R4090:Wdr26 UTSW 1 181203114 missense probably damaging 1.00
R4097:Wdr26 UTSW 1 181182787 missense probably benign 0.00
R4953:Wdr26 UTSW 1 181197651 missense probably damaging 1.00
R5834:Wdr26 UTSW 1 181203147 missense probably damaging 1.00
R5884:Wdr26 UTSW 1 181187541 intron probably benign
R6174:Wdr26 UTSW 1 181191868 missense probably damaging 1.00
R6334:Wdr26 UTSW 1 181203206
R7161:Wdr26 UTSW 1 181203130 missense probably damaging 1.00
R7255:Wdr26 UTSW 1 181181324 missense probably benign 0.24
R7406:Wdr26 UTSW 1 181187675 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGCCCTTAAACGGATTTCTTG -3'
(R):5'- TTGGCACAGAAACCTGAGGC -3'

Sequencing Primer
(F):5'- CCTCAAAGTCAAAGATCTGAGTGCTG -3'
(R):5'- GCACAAATGAGACTATCAGTGTAC -3'
Posted On2016-07-22