Incidental Mutation 'R1589:Wdr17'
ID 177730
Institutional Source Beutler Lab
Gene Symbol Wdr17
Ensembl Gene ENSMUSG00000039375
Gene Name WD repeat domain 17
Synonyms B230207L18Rik, 3010002I12Rik
MMRRC Submission 039626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1589 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 55082316-55180014 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 55156942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127511] [ENSMUST00000129132] [ENSMUST00000144711] [ENSMUST00000148408] [ENSMUST00000150488] [ENSMUST00000176866] [ENSMUST00000175915]
AlphaFold E9Q271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126316
Predicted Effect probably benign
Transcript: ENSMUST00000127511
SMART Domains Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375

DomainStartEndE-ValueType
WD40 72 112 8.55e-8 SMART
WD40 162 202 1.58e2 SMART
WD40 205 252 4.26e1 SMART
WD40 255 298 1.15e0 SMART
WD40 383 422 1.59e-7 SMART
WD40 425 465 2.39e0 SMART
WD40 468 509 5.52e-2 SMART
WD40 511 550 4.14e-6 SMART
WD40 555 595 5.14e-11 SMART
WD40 598 638 6.58e-9 SMART
WD40 641 681 6.28e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129132
SMART Domains Protein: ENSMUSP00000134935
Gene: ENSMUSG00000039375

DomainStartEndE-ValueType
WD40 48 88 8.55e-8 SMART
Blast:WD40 91 131 1e-12 BLAST
WD40 138 178 1.58e2 SMART
WD40 181 228 4.26e1 SMART
WD40 231 271 9.86e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144711
SMART Domains Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375

DomainStartEndE-ValueType
WD40 72 112 8.55e-8 SMART
WD40 194 235 7.64e1 SMART
WD40 238 281 1.15e0 SMART
WD40 366 405 1.59e-7 SMART
WD40 408 448 2.39e0 SMART
WD40 451 492 5.52e-2 SMART
WD40 494 533 4.14e-6 SMART
WD40 538 578 5.14e-11 SMART
WD40 581 621 6.58e-9 SMART
WD40 624 664 6.28e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148806
Predicted Effect probably benign
Transcript: ENSMUST00000150488
SMART Domains Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375

DomainStartEndE-ValueType
WD40 48 88 8.55e-8 SMART
WD40 138 178 1.58e2 SMART
WD40 181 228 4.26e1 SMART
WD40 231 274 1.15e0 SMART
WD40 359 398 1.59e-7 SMART
WD40 401 441 2.39e0 SMART
WD40 444 485 5.52e-2 SMART
WD40 487 526 4.14e-6 SMART
WD40 531 571 5.14e-11 SMART
WD40 574 614 6.58e-9 SMART
WD40 617 657 6.28e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176866
Predicted Effect probably benign
Transcript: ENSMUST00000175915
SMART Domains Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375

DomainStartEndE-ValueType
WD40 48 88 8.55e-8 SMART
WD40 138 178 1.58e2 SMART
WD40 181 228 4.26e1 SMART
WD40 231 274 1.15e0 SMART
WD40 359 398 1.59e-7 SMART
WD40 401 441 2.39e0 SMART
WD40 444 485 5.52e-2 SMART
WD40 487 526 4.14e-6 SMART
WD40 531 571 5.14e-11 SMART
WD40 574 614 6.58e-9 SMART
WD40 617 657 6.28e-6 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 97% (89/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik A G 3: 6,685,501 (GRCm39) probably benign Het
Aadacl2 C T 3: 59,917,997 (GRCm39) T82I probably benign Het
Acadl T C 1: 66,892,382 (GRCm39) N147S probably benign Het
Actr3 A T 1: 125,336,300 (GRCm39) M79K probably damaging Het
Agbl3 A G 6: 34,834,452 (GRCm39) S874G possibly damaging Het
Aoah A T 13: 21,187,118 (GRCm39) T472S probably damaging Het
Asb16 A T 11: 102,159,821 (GRCm39) D58V probably damaging Het
B4galt1 T C 4: 40,823,575 (GRCm39) D172G probably benign Het
Bax T C 7: 45,114,671 (GRCm39) N55S possibly damaging Het
Bdkrb2 A G 12: 105,558,118 (GRCm39) N120D possibly damaging Het
Bicdl1 T C 5: 115,789,325 (GRCm39) probably benign Het
Cand1 A G 10: 119,049,471 (GRCm39) L425P probably damaging Het
Caskin1 G A 17: 24,724,452 (GRCm39) probably null Het
Cd248 C T 19: 5,119,960 (GRCm39) P603S probably benign Het
Cep95 G T 11: 106,690,930 (GRCm39) R143L probably benign Het
Clptm1l G T 13: 73,762,792 (GRCm39) probably null Het
Cntnap5a T C 1: 115,987,930 (GRCm39) F154L possibly damaging Het
Cyld A T 8: 89,436,618 (GRCm39) I303F possibly damaging Het
Dock2 A G 11: 34,597,288 (GRCm39) S370P probably damaging Het
Enah G T 1: 181,749,858 (GRCm39) T327K probably damaging Het
Farp2 A T 1: 93,507,582 (GRCm39) S427C probably damaging Het
Fbxw11 C T 11: 32,683,612 (GRCm39) T301M probably damaging Het
Foxc2 A T 8: 121,843,915 (GRCm39) T188S probably benign Het
Fzd2 A G 11: 102,497,154 (GRCm39) T533A probably benign Het
Glb1l2 G T 9: 26,680,334 (GRCm39) S248* probably null Het
Glul A T 1: 153,781,284 (GRCm39) probably benign Het
Gm28042 A G 2: 119,871,887 (GRCm39) T946A probably benign Het
Golga3 T A 5: 110,329,649 (GRCm39) D2E probably damaging Het
Grm1 A T 10: 10,595,711 (GRCm39) F639Y probably benign Het
Gzmn A G 14: 56,403,368 (GRCm39) L247P probably benign Het
Hgf T G 5: 16,818,783 (GRCm39) I525R probably damaging Het
Hnrnpul2 T A 19: 8,808,696 (GRCm39) D719E probably benign Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itga9 T C 9: 118,436,185 (GRCm39) probably null Het
Itgb1 T A 8: 129,431,939 (GRCm39) C16S probably damaging Het
Itgb1 G T 8: 129,431,940 (GRCm39) C16F possibly damaging Het
Kat14 A G 2: 144,236,020 (GRCm39) I251V probably benign Het
Kdsr A T 1: 106,662,271 (GRCm39) probably null Het
Kif12 T A 4: 63,084,737 (GRCm39) E527V probably benign Het
Larp1b T C 3: 40,987,909 (GRCm39) S44P probably damaging Het
Lonp2 T C 8: 87,399,700 (GRCm39) probably benign Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrrc19 T C 4: 94,529,187 (GRCm39) S32G probably benign Het
Mdm2 G A 10: 117,526,434 (GRCm39) T335M probably benign Het
Mettl25 A G 10: 105,615,493 (GRCm39) Y504H probably damaging Het
Mill1 T C 7: 17,979,572 (GRCm39) I13T probably benign Het
Mmachc T A 4: 116,560,721 (GRCm39) Q258L probably benign Het
Mpdz T A 4: 81,339,413 (GRCm39) I5L probably benign Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Mtcl2 A T 2: 156,869,557 (GRCm39) M1026K probably benign Het
Mtmr11 A G 3: 96,075,429 (GRCm39) T370A probably benign Het
Nmi T C 2: 51,848,989 (GRCm39) I34V possibly damaging Het
Obscn A T 11: 58,926,901 (GRCm39) M5538K possibly damaging Het
Ogdhl T C 14: 32,047,822 (GRCm39) I24T probably benign Het
Omp G T 7: 97,794,566 (GRCm39) D20E probably benign Het
Or2ag19 A G 7: 106,444,403 (GRCm39) Y195C possibly damaging Het
Or52e8b A G 7: 104,673,767 (GRCm39) V140A probably benign Het
Or5b120 C T 19: 13,480,121 (GRCm39) T138M probably benign Het
Or6c69 A G 10: 129,747,550 (GRCm39) V199A probably benign Het
Otog A G 7: 45,933,332 (GRCm39) H1291R probably benign Het
Pgbd1 A G 13: 21,607,462 (GRCm39) L244P probably damaging Het
Ranbp2 A G 10: 58,299,808 (GRCm39) I481V probably benign Het
Rbp3 A T 14: 33,677,749 (GRCm39) I566F probably damaging Het
Rsph4a A G 10: 33,781,525 (GRCm39) D125G probably benign Het
Scn11a A G 9: 119,598,873 (GRCm39) V1219A probably damaging Het
Serpine3 G A 14: 62,911,830 (GRCm39) G264D probably benign Het
Slc4a10 T C 2: 62,087,806 (GRCm39) F400L probably damaging Het
Slco1a4 C T 6: 141,791,173 (GRCm39) V8I probably benign Het
Spen T C 4: 141,215,335 (GRCm39) D499G unknown Het
Stk32c A G 7: 138,698,931 (GRCm39) probably null Het
Tars1 A G 15: 11,388,261 (GRCm39) V485A probably benign Het
Tcerg1l A G 7: 137,963,496 (GRCm39) L258P probably damaging Het
Tmc2 A T 2: 130,089,880 (GRCm39) I622F probably damaging Het
Tmem183a A T 1: 134,282,444 (GRCm39) N220K probably damaging Het
Tnni3 T C 7: 4,523,525 (GRCm39) D146G probably damaging Het
Trappc11 G T 8: 47,954,715 (GRCm39) D908E probably damaging Het
Trappc8 A G 18: 20,996,608 (GRCm39) Y436H probably damaging Het
Ttc41 G A 10: 86,612,254 (GRCm39) V1176I probably benign Het
Ube2b A G 11: 51,888,699 (GRCm39) V24A probably benign Het
Usp30 T C 5: 114,251,022 (GRCm39) C233R probably damaging Het
Vmn1r87 T A 7: 12,865,703 (GRCm39) T195S possibly damaging Het
Vmn2r24 T C 6: 123,783,479 (GRCm39) probably benign Het
Vmn2r81 C A 10: 79,128,858 (GRCm39) T583N probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Wdr1 C A 5: 38,687,315 (GRCm39) V239L probably benign Het
Zfhx4 A C 3: 5,306,789 (GRCm39) D5A probably damaging Het
Zfyve27 T C 19: 42,160,184 (GRCm39) probably null Het
Other mutations in Wdr17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Wdr17 APN 8 55,140,746 (GRCm39) missense probably damaging 1.00
IGL00496:Wdr17 APN 8 55,112,614 (GRCm39) splice site probably benign
IGL01318:Wdr17 APN 8 55,125,585 (GRCm39) missense probably damaging 1.00
IGL01347:Wdr17 APN 8 55,104,380 (GRCm39) missense probably benign
IGL01654:Wdr17 APN 8 55,115,914 (GRCm39) missense probably damaging 1.00
IGL02010:Wdr17 APN 8 55,112,738 (GRCm39) missense probably damaging 0.97
IGL02085:Wdr17 APN 8 55,140,771 (GRCm39) nonsense probably null
IGL02205:Wdr17 APN 8 55,149,335 (GRCm39) missense probably damaging 1.00
IGL02375:Wdr17 APN 8 55,149,423 (GRCm39) missense possibly damaging 0.94
IGL02705:Wdr17 APN 8 55,101,250 (GRCm39) splice site probably null
IGL02719:Wdr17 APN 8 55,146,089 (GRCm39) splice site probably null
IGL03051:Wdr17 APN 8 55,104,349 (GRCm39) missense probably damaging 0.99
IGL03131:Wdr17 APN 8 55,149,302 (GRCm39) critical splice donor site probably null
IGL03172:Wdr17 APN 8 55,114,515 (GRCm39) missense probably damaging 0.96
enthralled UTSW 8 55,112,716 (GRCm39) missense possibly damaging 0.85
riveted UTSW 8 55,085,522 (GRCm39) missense probably benign 0.00
thrilled UTSW 8 55,149,303 (GRCm39) critical splice donor site probably null
IGL03138:Wdr17 UTSW 8 55,102,178 (GRCm39) missense probably damaging 1.00
PIT4458001:Wdr17 UTSW 8 55,126,614 (GRCm39) nonsense probably null
R0011:Wdr17 UTSW 8 55,125,536 (GRCm39) missense possibly damaging 0.87
R0011:Wdr17 UTSW 8 55,125,536 (GRCm39) missense possibly damaging 0.87
R0124:Wdr17 UTSW 8 55,088,526 (GRCm39) missense probably damaging 1.00
R0226:Wdr17 UTSW 8 55,116,043 (GRCm39) missense probably benign 0.08
R0270:Wdr17 UTSW 8 55,146,131 (GRCm39) missense possibly damaging 0.85
R0271:Wdr17 UTSW 8 55,146,131 (GRCm39) missense possibly damaging 0.85
R0288:Wdr17 UTSW 8 55,146,131 (GRCm39) missense possibly damaging 0.85
R0321:Wdr17 UTSW 8 55,149,303 (GRCm39) critical splice donor site probably null
R0464:Wdr17 UTSW 8 55,123,427 (GRCm39) splice site probably benign
R0479:Wdr17 UTSW 8 55,104,456 (GRCm39) splice site probably null
R0488:Wdr17 UTSW 8 55,146,087 (GRCm39) unclassified probably benign
R0552:Wdr17 UTSW 8 55,146,131 (GRCm39) missense possibly damaging 0.85
R0553:Wdr17 UTSW 8 55,146,131 (GRCm39) missense possibly damaging 0.85
R0600:Wdr17 UTSW 8 55,114,530 (GRCm39) missense probably damaging 1.00
R0621:Wdr17 UTSW 8 55,096,226 (GRCm39) missense probably benign 0.18
R0655:Wdr17 UTSW 8 55,102,233 (GRCm39) missense probably damaging 1.00
R0730:Wdr17 UTSW 8 55,146,131 (GRCm39) missense possibly damaging 0.85
R0789:Wdr17 UTSW 8 55,112,607 (GRCm39) splice site probably benign
R0854:Wdr17 UTSW 8 55,156,916 (GRCm39) missense probably benign
R0879:Wdr17 UTSW 8 55,114,516 (GRCm39) missense probably benign 0.08
R1462:Wdr17 UTSW 8 55,123,363 (GRCm39) missense probably damaging 1.00
R1462:Wdr17 UTSW 8 55,123,363 (GRCm39) missense probably damaging 1.00
R1497:Wdr17 UTSW 8 55,125,536 (GRCm39) missense possibly damaging 0.87
R1618:Wdr17 UTSW 8 55,092,930 (GRCm39) missense probably damaging 1.00
R1768:Wdr17 UTSW 8 55,126,689 (GRCm39) missense possibly damaging 0.84
R1778:Wdr17 UTSW 8 55,143,249 (GRCm39) missense probably damaging 1.00
R1819:Wdr17 UTSW 8 55,143,159 (GRCm39) missense probably benign 0.18
R1913:Wdr17 UTSW 8 55,140,761 (GRCm39) missense probably damaging 1.00
R2129:Wdr17 UTSW 8 55,085,416 (GRCm39) missense probably damaging 1.00
R2132:Wdr17 UTSW 8 55,125,541 (GRCm39) missense probably damaging 1.00
R2309:Wdr17 UTSW 8 55,096,283 (GRCm39) missense probably benign
R3882:Wdr17 UTSW 8 55,092,536 (GRCm39) missense possibly damaging 0.53
R4097:Wdr17 UTSW 8 55,088,504 (GRCm39) missense probably damaging 1.00
R4372:Wdr17 UTSW 8 55,092,930 (GRCm39) missense probably damaging 1.00
R4380:Wdr17 UTSW 8 55,101,442 (GRCm39) intron probably benign
R4480:Wdr17 UTSW 8 55,117,999 (GRCm39) critical splice donor site probably null
R4654:Wdr17 UTSW 8 55,134,434 (GRCm39) missense probably damaging 1.00
R4656:Wdr17 UTSW 8 55,134,434 (GRCm39) missense probably damaging 1.00
R4669:Wdr17 UTSW 8 55,143,083 (GRCm39) missense possibly damaging 0.72
R4719:Wdr17 UTSW 8 55,092,911 (GRCm39) missense probably benign 0.33
R4912:Wdr17 UTSW 8 55,082,896 (GRCm39) missense probably damaging 1.00
R5000:Wdr17 UTSW 8 55,118,161 (GRCm39) missense possibly damaging 0.82
R5073:Wdr17 UTSW 8 55,143,271 (GRCm39) critical splice acceptor site probably null
R5176:Wdr17 UTSW 8 55,106,913 (GRCm39) critical splice donor site probably null
R5194:Wdr17 UTSW 8 55,140,639 (GRCm39) missense probably damaging 1.00
R5270:Wdr17 UTSW 8 55,096,221 (GRCm39) missense probably benign 0.20
R5300:Wdr17 UTSW 8 55,134,434 (GRCm39) missense probably damaging 1.00
R5325:Wdr17 UTSW 8 55,112,716 (GRCm39) missense possibly damaging 0.85
R5336:Wdr17 UTSW 8 55,085,353 (GRCm39) missense probably damaging 1.00
R5394:Wdr17 UTSW 8 55,092,524 (GRCm39) missense possibly damaging 0.73
R5424:Wdr17 UTSW 8 55,134,434 (GRCm39) missense probably damaging 1.00
R5425:Wdr17 UTSW 8 55,134,434 (GRCm39) missense probably damaging 1.00
R5426:Wdr17 UTSW 8 55,134,434 (GRCm39) missense probably damaging 1.00
R5548:Wdr17 UTSW 8 55,156,886 (GRCm39) missense probably damaging 0.97
R5681:Wdr17 UTSW 8 55,115,904 (GRCm39) missense probably damaging 1.00
R5722:Wdr17 UTSW 8 55,113,806 (GRCm39) critical splice donor site probably null
R5894:Wdr17 UTSW 8 55,149,335 (GRCm39) missense probably damaging 1.00
R5906:Wdr17 UTSW 8 55,092,503 (GRCm39) missense probably benign 0.33
R6038:Wdr17 UTSW 8 55,085,346 (GRCm39) critical splice donor site probably null
R6038:Wdr17 UTSW 8 55,085,346 (GRCm39) critical splice donor site probably null
R6391:Wdr17 UTSW 8 55,114,495 (GRCm39) missense probably benign 0.04
R6605:Wdr17 UTSW 8 55,134,559 (GRCm39) missense probably benign 0.16
R6892:Wdr17 UTSW 8 55,126,631 (GRCm39) missense probably damaging 1.00
R7019:Wdr17 UTSW 8 55,134,488 (GRCm39) missense probably damaging 1.00
R7257:Wdr17 UTSW 8 55,085,522 (GRCm39) missense probably benign 0.00
R7481:Wdr17 UTSW 8 55,114,371 (GRCm39) missense probably benign
R7868:Wdr17 UTSW 8 55,149,302 (GRCm39) critical splice donor site probably null
R7939:Wdr17 UTSW 8 55,140,677 (GRCm39) missense probably damaging 0.98
R7962:Wdr17 UTSW 8 55,113,806 (GRCm39) critical splice donor site probably null
R8017:Wdr17 UTSW 8 55,091,403 (GRCm39) missense possibly damaging 0.73
R8122:Wdr17 UTSW 8 55,118,011 (GRCm39) missense probably damaging 1.00
R8226:Wdr17 UTSW 8 55,146,155 (GRCm39) missense possibly damaging 0.52
R8251:Wdr17 UTSW 8 55,110,267 (GRCm39) missense probably damaging 1.00
R8413:Wdr17 UTSW 8 55,115,953 (GRCm39) missense probably benign 0.08
R8534:Wdr17 UTSW 8 55,101,265 (GRCm39) missense probably benign 0.08
R8708:Wdr17 UTSW 8 55,093,127 (GRCm39) intron probably benign
R9116:Wdr17 UTSW 8 55,114,605 (GRCm39) missense probably damaging 1.00
R9258:Wdr17 UTSW 8 55,112,654 (GRCm39) nonsense probably null
R9351:Wdr17 UTSW 8 55,143,057 (GRCm39) missense probably benign 0.00
R9475:Wdr17 UTSW 8 55,088,512 (GRCm39) missense probably benign 0.00
R9546:Wdr17 UTSW 8 55,112,735 (GRCm39) missense probably damaging 1.00
R9547:Wdr17 UTSW 8 55,112,735 (GRCm39) missense probably damaging 1.00
R9635:Wdr17 UTSW 8 55,101,375 (GRCm39) missense probably damaging 0.98
V5088:Wdr17 UTSW 8 55,146,131 (GRCm39) missense possibly damaging 0.85
V5622:Wdr17 UTSW 8 55,146,131 (GRCm39) missense possibly damaging 0.85
V5622:Wdr17 UTSW 8 55,146,131 (GRCm39) missense possibly damaging 0.85
X0022:Wdr17 UTSW 8 55,092,529 (GRCm39) missense probably benign 0.04
X0066:Wdr17 UTSW 8 55,126,595 (GRCm39) missense probably damaging 1.00
Z1177:Wdr17 UTSW 8 55,123,414 (GRCm39) missense probably damaging 1.00
Z1177:Wdr17 UTSW 8 55,096,220 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGGGTAGAACTCATCTAGCGTGCAG -3'
(R):5'- TGGGCAACACAAAATGAACTCCCTG -3'

Sequencing Primer
(F):5'- TAGGGTTCACTCACAACTGAAAAAG -3'
(R):5'- tgtttttgtttgtttgtttggtttg -3'
Posted On 2014-04-24