Incidental Mutation 'R5000:Wdr17'
ID 389831
Institutional Source Beutler Lab
Gene Symbol Wdr17
Ensembl Gene ENSMUSG00000039375
Gene Name WD repeat domain 17
Synonyms B230207L18Rik, 3010002I12Rik
MMRRC Submission 042594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5000 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 55082316-55180014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55118161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 512 (M512L)
Ref Sequence ENSEMBL: ENSMUSP00000122326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127511] [ENSMUST00000144482] [ENSMUST00000144711] [ENSMUST00000150488] [ENSMUST00000175915]
AlphaFold E9Q271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126316
Predicted Effect probably benign
Transcript: ENSMUST00000127511
AA Change: M536L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: M536L

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: ENSMUST00000144482
AA Change: M223L

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134950
Gene: ENSMUSG00000039375
AA Change: M223L

DomainStartEndE-ValueType
Blast:WD40 16 65 2e-24 BLAST
WD40 70 109 1.59e-7 SMART
WD40 112 152 2.39e0 SMART
WD40 155 196 5.52e-2 SMART
WD40 198 237 4.14e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144711
AA Change: M519L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: M519L

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 possibly damaging
Transcript: ENSMUST00000150488
AA Change: M512L

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: M512L

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: ENSMUST00000175915
AA Change: M512L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: M512L

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 0.1061 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (97/99)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,255,946 (GRCm39) F11Y probably benign Het
Abca5 A G 11: 110,201,050 (GRCm39) L450P probably damaging Het
Abi1 T A 2: 22,840,211 (GRCm39) R357W probably damaging Het
Acot7 G A 4: 152,270,820 (GRCm39) G55R probably benign Het
Aicda G A 6: 122,538,826 (GRCm39) V14I probably damaging Het
Anxa4 G T 6: 86,742,766 (GRCm39) probably benign Het
Apobr T A 7: 126,185,729 (GRCm39) D413E possibly damaging Het
Ash1l T C 3: 88,965,941 (GRCm39) Y2448H probably damaging Het
Atf7ip A G 6: 136,559,426 (GRCm39) E749G probably damaging Het
Atp8b3 A T 10: 80,357,676 (GRCm39) N1114K possibly damaging Het
Bdnf C A 2: 109,553,993 (GRCm39) N122K probably benign Het
Boc A T 16: 44,310,517 (GRCm39) I801N probably damaging Het
Brap A T 5: 121,800,089 (GRCm39) K37* probably null Het
Ccar1 C T 10: 62,586,784 (GRCm39) E885K unknown Het
Ccdc103 A G 11: 102,774,932 (GRCm39) N177S probably benign Het
Ccdc116 G A 16: 16,959,657 (GRCm39) P344L possibly damaging Het
Cdca5 T C 19: 6,135,463 (GRCm39) S28P possibly damaging Het
Ceacam20 T C 7: 19,699,453 (GRCm39) I14T probably damaging Het
Chrnb1 A T 11: 69,677,858 (GRCm39) V298E probably damaging Het
Cnksr3 G A 10: 7,076,746 (GRCm39) Q149* probably null Het
Csnk1a1 T C 18: 61,711,840 (GRCm39) F97L probably damaging Het
Dag1 A T 9: 108,085,216 (GRCm39) S642T probably benign Het
Dedd2 A G 7: 24,903,068 (GRCm39) V297A possibly damaging Het
Dhcr7 C T 7: 143,395,060 (GRCm39) T189M possibly damaging Het
Dlgap1 T C 17: 71,073,053 (GRCm39) S691P probably damaging Het
Dmgdh A C 13: 93,825,046 (GRCm39) H123P probably damaging Het
Dnah6 C T 6: 73,121,798 (GRCm39) V1395I probably benign Het
Dnah7a T C 1: 53,606,201 (GRCm39) Y1273C probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Elac2 T C 11: 64,876,379 (GRCm39) F3L probably benign Het
Elovl7 A T 13: 108,410,915 (GRCm39) K163N probably benign Het
Epg5 T C 18: 77,997,376 (GRCm39) V413A probably benign Het
Espl1 T A 15: 102,206,986 (GRCm39) L150Q probably damaging Het
F2rl3 T A 8: 73,489,307 (GRCm39) L178Q probably damaging Het
Fam120a T C 13: 49,051,143 (GRCm39) E754G probably damaging Het
Fam53b T C 7: 132,317,730 (GRCm39) N304S probably benign Het
Fbxo41 T C 6: 85,460,901 (GRCm39) E269G probably damaging Het
Fcrla T C 1: 170,749,959 (GRCm39) T4A probably benign Het
Frmpd1 A T 4: 45,261,931 (GRCm39) probably null Het
Gm9376 A G 14: 118,504,702 (GRCm39) M45V probably benign Het
Gpr68 G A 12: 100,844,596 (GRCm39) A316V probably benign Het
Hmgcl G A 4: 135,689,511 (GRCm39) C323Y probably benign Het
Hnrnpu T C 1: 178,156,941 (GRCm39) probably benign Het
Ier2 T A 8: 85,389,353 (GRCm39) I10F probably damaging Het
Ip6k1 C T 9: 107,922,798 (GRCm39) Q234* probably null Het
Llgl2 T C 11: 115,735,728 (GRCm39) V108A probably benign Het
Lrfn3 T C 7: 30,059,805 (GRCm39) N140S possibly damaging Het
Lrig1 T A 6: 94,588,430 (GRCm39) H573L probably damaging Het
Lrrk2 T A 15: 91,634,081 (GRCm39) W1393R probably damaging Het
Mrc1 T A 2: 14,249,000 (GRCm39) Y179N probably damaging Het
Mtfr1 C T 3: 19,265,743 (GRCm39) L93F probably damaging Het
Muc19 T C 15: 91,757,429 (GRCm39) noncoding transcript Het
Ndst2 C T 14: 20,774,975 (GRCm39) probably null Het
Nmd3 A T 3: 69,624,735 (GRCm39) probably benign Het
Nsd3 A G 8: 26,172,593 (GRCm39) Y784C probably damaging Het
Or4a27 A T 2: 88,559,910 (GRCm39) I11N probably damaging Het
Or7a36 G A 10: 78,820,514 (GRCm39) V297I probably benign Het
Papln A G 12: 83,821,663 (GRCm39) Y297C probably damaging Het
Pdhx T C 2: 102,871,385 (GRCm39) probably null Het
Pdpk1 T C 17: 24,330,019 (GRCm39) T6A possibly damaging Het
Prcp T C 7: 92,568,368 (GRCm39) W267R probably damaging Het
Prg2 T C 2: 84,812,367 (GRCm39) S26P probably benign Het
Psg26 A T 7: 18,214,057 (GRCm39) Y202N possibly damaging Het
Psrc1 T C 3: 108,287,839 (GRCm39) probably benign Het
Rap1gds1 A T 3: 138,662,011 (GRCm39) M366K probably damaging Het
Robo4 G T 9: 37,319,664 (GRCm39) R527L probably benign Het
Sel1l3 G A 5: 53,357,776 (GRCm39) T72M probably damaging Het
Selenoo G A 15: 88,978,387 (GRCm39) R270H probably damaging Het
Sema3d A G 5: 12,498,005 (GRCm39) T4A probably benign Het
Shroom1 A T 11: 53,357,944 (GRCm39) probably benign Het
Slc25a19 T C 11: 115,507,497 (GRCm39) probably null Het
Snx29 A C 16: 11,221,371 (GRCm39) I266L probably damaging Het
Spo11 T C 2: 172,831,193 (GRCm39) S255P probably damaging Het
Spock3 T C 8: 63,698,158 (GRCm39) V167A possibly damaging Het
Tmc7 A G 7: 118,158,077 (GRCm39) probably null Het
Tmtc4 A G 14: 123,170,743 (GRCm39) V509A possibly damaging Het
Trim24 A G 6: 37,935,547 (GRCm39) D880G probably benign Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr4 T A 4: 139,163,480 (GRCm39) C2627S probably damaging Het
Unc5d A T 8: 29,205,775 (GRCm39) M512K possibly damaging Het
Usp18 A G 6: 121,229,479 (GRCm39) R33G possibly damaging Het
Utp23 T A 15: 51,745,569 (GRCm39) V23D probably damaging Het
Wdr64 T A 1: 175,553,941 (GRCm39) probably null Het
Zbtb6 T C 2: 37,319,251 (GRCm39) T226A probably benign Het
Zc3hc1 T A 6: 30,375,987 (GRCm39) H191L possibly damaging Het
Zdhhc4 C A 5: 143,310,688 (GRCm39) C48F probably damaging Het
Zfp335 T A 2: 164,736,588 (GRCm39) T1016S probably benign Het
Zfp583 A G 7: 6,328,473 (GRCm39) Y39H probably 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
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
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'- ACACATGCATTTCTGGGAAACTG -3'
(R):5'- CTTACTGAAATAGTCCTTTTCAGCC -3'

Sequencing Primer
(F):5'- GAACACTCTTGCTGTGTG -3'
(R):5'- CTGAAATAGTCCTTTTCAGCCATAAG -3'
Posted On 2016-06-06