Incidental Mutation 'R5325:Wdr17'
ID 421894
Institutional Source Beutler Lab
Gene Symbol Wdr17
Ensembl Gene ENSMUSG00000039375
Gene Name WD repeat domain 17
Synonyms B230207L18Rik, 3010002I12Rik
MMRRC Submission 042908-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5325 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 55082316-55180014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55112716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 788 (A788V)
Ref Sequence ENSEMBL: ENSMUSP00000135805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127511] [ENSMUST00000144711] [ENSMUST00000150488] [ENSMUST00000175915]
AlphaFold E9Q271
Predicted Effect probably benign
Transcript: ENSMUST00000127511
AA Change: A812V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: A812V

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: ENSMUST00000144711
AA Change: A795V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: A795V

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: ENSMUST00000150488
AA Change: A788V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: A788V

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 possibly damaging
Transcript: ENSMUST00000175915
AA Change: A788V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: A788V

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (55/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T A 11: 105,896,079 (GRCm39) M675K probably benign Het
Ccdc186 A T 19: 56,801,613 (GRCm39) I168N probably damaging Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep83 A G 10: 94,573,768 (GRCm39) E219G probably damaging Het
Ctsj T C 13: 61,151,839 (GRCm39) T73A possibly damaging Het
Ddr2 T A 1: 169,829,406 (GRCm39) T283S probably benign Het
Ehbp1 T A 11: 22,045,370 (GRCm39) D768V possibly damaging Het
Evpl T C 11: 116,112,191 (GRCm39) D1833G probably damaging Het
Exoc1 A G 5: 76,685,549 (GRCm39) N87S probably benign Het
Fam98b A C 2: 117,101,132 (GRCm39) I315L possibly damaging Het
Fancg A G 4: 43,006,564 (GRCm39) V330A probably damaging Het
Fbxo30 G A 10: 11,166,846 (GRCm39) V523I possibly damaging Het
Fbxw27 A G 9: 109,599,161 (GRCm39) C419R probably damaging Het
Flt3 C A 5: 147,312,459 (GRCm39) V161L probably benign Het
Fndc7 G A 3: 108,790,765 (GRCm39) T87I probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm6457 A T 18: 14,703,498 (GRCm39) noncoding transcript Het
Gpr63 T C 4: 25,007,294 (GRCm39) V6A probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
H2-M10.2 C A 17: 36,596,471 (GRCm39) V125L probably benign Het
Hrh4 C T 18: 13,155,054 (GRCm39) Q198* probably null Het
Lrch4 A G 5: 137,636,168 (GRCm39) E373G probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Noa1 A C 5: 77,452,042 (GRCm39) D547E probably damaging Het
Nr2e1 G A 10: 42,448,780 (GRCm39) R153W probably damaging Het
Nudt9 A C 5: 104,198,487 (GRCm39) M1L possibly damaging Het
Odf2 T A 2: 29,802,583 (GRCm39) D282E probably benign Het
Olfr908 A T 9: 38,427,454 (GRCm39) N42I probably damaging Het
Or13a25 C A 7: 140,247,705 (GRCm39) H168Q probably benign Het
Or6ae1 T A 7: 139,742,026 (GRCm39) Y279F probably damaging Het
Osbpl5 C G 7: 143,245,665 (GRCm39) A816P probably damaging Het
Pan2 T C 10: 128,153,503 (GRCm39) I924T possibly damaging Het
Ppat A G 5: 77,076,269 (GRCm39) probably benign Het
Rad50 T G 11: 53,583,690 (GRCm39) I364L probably benign Het
Rnf7l A G 10: 63,257,458 (GRCm39) S21P probably benign Het
Robo2 A G 16: 73,770,673 (GRCm39) I484T possibly damaging Het
Ryr2 A T 13: 11,705,249 (GRCm39) M2839K probably damaging Het
Sin3b A G 8: 73,477,154 (GRCm39) D807G probably damaging Het
Sirpb1a G A 3: 15,476,503 (GRCm39) T98I possibly damaging Het
Smim17 G A 7: 6,432,321 (GRCm39) V88M probably damaging Het
Spib T C 7: 44,177,505 (GRCm39) T229A probably damaging Het
St14 A T 9: 31,008,274 (GRCm39) probably null Het
Syne4 A T 7: 30,018,401 (GRCm39) Y381F probably damaging Het
Sytl1 T C 4: 132,988,382 (GRCm39) probably benign Het
Tnpo3 A C 6: 29,602,012 (GRCm39) probably benign Het
Trim12a T A 7: 103,953,413 (GRCm39) I233F probably damaging Het
Tspan1 T A 4: 116,021,536 (GRCm39) N82Y probably damaging Het
Vmn1r60 T A 7: 5,547,201 (GRCm39) M300L probably benign Het
Wwtr1 A T 3: 57,482,658 (GRCm39) V63E probably benign Het
Ylpm1 A G 12: 85,060,735 (GRCm39) probably benign Het
Zfp956 T C 6: 47,928,012 (GRCm39) probably benign 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
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
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'- ACATGGAATTACTCCTTCCCG -3'
(R):5'- CCAAACCGCTTATTCCATGAACTG -3'

Sequencing Primer
(F):5'- ATGGAATTACTCCTTCCCGTGTGG -3'
(R):5'- AGAGGTCCTGAGTTCACCTAG -3'
Posted On 2016-08-04