Incidental Mutation 'R0321:Wdr17'
ID 35865
Institutional Source Beutler Lab
Gene Symbol Wdr17
Ensembl Gene ENSMUSG00000039375
Gene Name WD repeat domain 17
Synonyms B230207L18Rik, 3010002I12Rik
MMRRC Submission 038531-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0321 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 55082316-55180014 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 55149303 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] [ENSMUST00000175915] [ENSMUST00000176866]
AlphaFold E9Q271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126316
Predicted Effect probably null
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 null
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 null
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 null
Transcript: ENSMUST00000148408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148806
Predicted Effect probably null
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 null
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
Predicted Effect probably null
Transcript: ENSMUST00000176866
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 100% (79/79)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,620 (GRCm39) T353A probably benign Het
4933402N03Rik T A 7: 130,747,956 (GRCm39) Y12F probably benign Het
Acbd3 T G 1: 180,579,870 (GRCm39) F505V probably damaging Het
Acod1 T C 14: 103,292,565 (GRCm39) V363A probably benign Het
Adam28 T C 14: 68,855,200 (GRCm39) Q647R probably damaging Het
Akr1c18 T A 13: 4,185,243 (GRCm39) L296F probably damaging Het
Ap1b1 G A 11: 4,982,464 (GRCm39) A588T probably benign Het
Armc8 A T 9: 99,415,230 (GRCm39) I150K probably damaging Het
Bahcc1 T C 11: 120,164,251 (GRCm39) probably null Het
Bltp1 T C 3: 36,960,937 (GRCm39) probably null Het
Carmil3 C A 14: 55,739,698 (GRCm39) D928E possibly damaging Het
Ccrl2 T C 9: 110,885,279 (GRCm39) N73S probably damaging Het
Cdk9 C A 2: 32,602,698 (GRCm39) probably benign Het
Cel G T 2: 28,451,160 (GRCm39) Q66K probably benign Het
D930028M14Rik T A 7: 24,854,991 (GRCm39) noncoding transcript Het
Dgka G C 10: 128,556,952 (GRCm39) probably benign Het
Dlg1 T C 16: 31,676,854 (GRCm39) V801A probably damaging Het
Dnah10 A G 5: 124,900,416 (GRCm39) D3834G probably benign Het
Dnajc15 C T 14: 78,112,273 (GRCm39) A23T possibly damaging Het
Ell2 T A 13: 75,910,007 (GRCm39) L119Q probably damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
F10 T C 8: 13,103,413 (GRCm39) F266L possibly damaging Het
Fam110a T C 2: 151,812,587 (GRCm39) N61S probably benign Het
Fam83c C T 2: 155,671,620 (GRCm39) S605N probably benign Het
Fbxw15 C T 9: 109,394,453 (GRCm39) V121I probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gfi1b A G 2: 28,503,897 (GRCm39) F101S probably damaging Het
Gimap5 C G 6: 48,727,449 (GRCm39) probably benign Het
Gpr180 T C 14: 118,385,699 (GRCm39) probably null Het
Gsn T C 2: 35,180,408 (GRCm39) F188L probably benign Het
Hivep3 T A 4: 119,952,788 (GRCm39) I368N possibly damaging Het
Itih3 T A 14: 30,634,063 (GRCm39) I153F probably damaging Het
Kdm8 A T 7: 125,060,178 (GRCm39) Q360L probably damaging Het
Lars1 T C 18: 42,335,697 (GRCm39) K1140E probably damaging Het
Mocs1 A G 17: 49,740,286 (GRCm39) Y71C probably damaging Het
Mroh5 C T 15: 73,661,892 (GRCm39) G433E probably damaging Het
Mrpl45 T A 11: 97,217,764 (GRCm39) probably benign Het
Mtcl1 T A 17: 66,686,426 (GRCm39) T827S probably damaging Het
Muc5b T C 7: 141,415,972 (GRCm39) S2973P probably benign Het
Mynn T C 3: 30,661,706 (GRCm39) S263P probably benign Het
Myo1f A C 17: 33,811,986 (GRCm39) D595A probably benign Het
Necab1 A T 4: 14,960,083 (GRCm39) I288N probably damaging Het
Nutm2 T G 13: 50,626,991 (GRCm39) M382R probably damaging Het
Oprm1 T C 10: 6,779,183 (GRCm39) S131P probably damaging Het
Pcsk9 A G 4: 106,301,891 (GRCm39) S619P probably benign Het
Phkg1 A T 5: 129,898,365 (GRCm39) M1K probably null Het
Pigc C T 1: 161,798,668 (GRCm39) Q217* probably null Het
Pik3r4 T A 9: 105,525,906 (GRCm39) F259I probably damaging Het
Pkdcc A T 17: 83,529,541 (GRCm39) probably benign Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Prtg A T 9: 72,755,307 (GRCm39) I259F possibly damaging Het
Prune2 T G 19: 17,098,291 (GRCm39) L1265R possibly damaging Het
Prune2 C T 19: 17,099,818 (GRCm39) A1774V probably benign Het
Rcn3 A G 7: 44,738,139 (GRCm39) probably benign Het
Rnf213 C T 11: 119,328,931 (GRCm39) Q2067* probably null Het
Sec14l1 T A 11: 117,041,568 (GRCm39) probably benign Het
Serpinb3a C T 1: 106,975,212 (GRCm39) W198* probably null Het
Smpdl3b A T 4: 132,468,755 (GRCm39) V154E probably damaging Het
Spag17 T C 3: 100,008,719 (GRCm39) S1950P probably damaging Het
Sprr1a T C 3: 92,391,609 (GRCm39) T131A probably benign Het
Tatdn2 T G 6: 113,686,462 (GRCm39) L690W probably damaging Het
Tbc1d1 T C 5: 64,496,937 (GRCm39) F864L probably damaging Het
Tmem8b C A 4: 43,674,444 (GRCm39) R243S probably damaging Het
Tnfrsf11a T A 1: 105,772,583 (GRCm39) C623* probably null Het
Tprg1l T C 4: 154,243,812 (GRCm39) N115D probably damaging Het
Ube2t C T 1: 134,895,538 (GRCm39) A4V possibly damaging Het
Vps41 G A 13: 19,026,465 (GRCm39) probably benign Het
Wwc1 G A 11: 35,732,637 (GRCm39) Q1024* probably null Het
Zfand5 T A 19: 21,253,879 (GRCm39) N27K probably damaging Het
Zfp142 A T 1: 74,608,873 (GRCm39) C1641S probably damaging Het
Zfyve16 A G 13: 92,629,042 (GRCm39) I1465T probably damaging Het
Zswim1 G A 2: 164,667,947 (GRCm39) G400S probably benign Het
Zswim3 C T 2: 164,662,279 (GRCm39) A253V possibly damaging 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
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
R1589:Wdr17 UTSW 8 55,156,942 (GRCm39) intron probably benign
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'- CCATTGTTAGTTTTGTTGTGGGC -3'
(R):5'- GGAACAAAGATGTATGTGCTGCC -3'

Sequencing Primer
(F):5'- AACAAACTTAGGCACTCTGC -3'
(R):5'- GATGTATGTGCTGCCAACGG -3'
Posted On 2013-05-09