Incidental Mutation 'R5394:Wdr17'
ID 426049
Institutional Source Beutler Lab
Gene Symbol Wdr17
Ensembl Gene ENSMUSG00000039375
Gene Name WD repeat domain 17
Synonyms B230207L18Rik, 3010002I12Rik
MMRRC Submission 042966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5394 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 55082316-55180014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55092524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1087 (S1087P)
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: S1126P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: S1126P

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 noncoding transcript
Transcript: ENSMUST00000128850
Predicted Effect probably benign
Transcript: ENSMUST00000144711
AA Change: S1101P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: S1101P

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: S1094P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: S1094P

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: S1087P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: S1087P

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 0.0728 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (96/99)
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
4930503B20Rik A G 3: 146,356,363 (GRCm39) F182L probably damaging Het
4930503B20Rik T C 3: 146,356,713 (GRCm39) Y65C probably damaging Het
4930590J08Rik A G 6: 91,896,174 (GRCm39) T341A probably benign Het
Adamts13 G A 2: 26,876,570 (GRCm39) V495I probably benign Het
Alms1 C A 6: 85,600,070 (GRCm39) T2101K probably benign Het
Als2 T C 1: 59,214,105 (GRCm39) D1361G probably benign Het
Ankdd1a A T 9: 65,412,496 (GRCm39) M275K probably benign Het
Arfip2 A T 7: 105,286,183 (GRCm39) Y161* probably null Het
Asap3 A T 4: 135,968,570 (GRCm39) E707D probably benign Het
Atm C T 9: 53,419,077 (GRCm39) probably null Het
Atp9b A T 18: 80,820,052 (GRCm39) S577R probably benign Het
Bltp1 G T 3: 36,971,817 (GRCm39) V517F probably damaging Het
Camk1d G C 2: 5,308,177 (GRCm39) D274E probably benign Het
Cebpz C T 17: 79,229,634 (GRCm39) D907N probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnst T A 1: 179,429,301 (GRCm39) probably benign Het
Cog2 G T 8: 125,259,268 (GRCm39) V196L probably benign Het
Col11a1 A G 3: 113,987,833 (GRCm39) probably null Het
Cops6 T A 5: 138,161,762 (GRCm39) probably null Het
Cspg4 A G 9: 56,797,484 (GRCm39) E1316G probably damaging Het
Cwc22 G C 2: 77,759,683 (GRCm39) D122E possibly damaging Het
Dapk2 G A 9: 66,176,000 (GRCm39) V300M probably benign Het
Dcp1b C A 6: 119,152,328 (GRCm39) D25E probably damaging Het
Ddx10 A T 9: 53,145,157 (GRCm39) Y273* probably null Het
Dhx58 T C 11: 100,589,034 (GRCm39) E504G probably benign Het
Dync2h1 C T 9: 7,120,899 (GRCm39) W2129* probably null Het
Egr4 A T 6: 85,489,442 (GRCm39) L206Q probably damaging Het
Eif4g3 A G 4: 137,830,709 (GRCm39) probably null Het
Fbxo46 A G 7: 18,870,541 (GRCm39) N387D possibly damaging Het
Fpr-rs3 T G 17: 20,844,470 (GRCm39) M224L probably benign Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gxylt2 A G 6: 100,682,075 (GRCm39) K91E probably benign Het
Hecw1 A T 13: 14,497,174 (GRCm39) V278E probably damaging Het
Hydin A G 8: 111,266,474 (GRCm39) probably null Het
Iars1 T C 13: 49,875,641 (GRCm39) L776P probably damaging Het
Kcnh2 T A 5: 24,537,039 (GRCm39) T182S probably benign Het
Kplce T C 3: 92,776,005 (GRCm39) E226G probably damaging Het
Lats2 T G 14: 57,928,810 (GRCm39) S1022R probably benign Het
Lef1 C T 3: 130,988,308 (GRCm39) P264S probably damaging Het
Lyrm1 A C 7: 119,513,471 (GRCm39) I79L possibly damaging Het
Macroh2a2 G A 10: 61,587,466 (GRCm39) T156M possibly damaging Het
Man2b2 T G 5: 36,971,862 (GRCm39) Q618P probably benign Het
Mei1 T C 15: 81,976,957 (GRCm39) V180A possibly damaging Het
Mmp15 A T 8: 96,093,032 (GRCm39) N137I probably damaging Het
Mms22l A G 4: 24,517,115 (GRCm39) D222G possibly damaging Het
Mmut T A 17: 41,258,075 (GRCm39) S414T probably benign Het
Myo18a T C 11: 77,744,176 (GRCm39) M1846T probably benign Het
Neo1 A T 9: 58,897,517 (GRCm39) N146K probably benign Het
Nos3 A G 5: 24,588,888 (GRCm39) T1174A probably benign Het
Or10d4b A T 9: 39,534,430 (GRCm39) T4S probably benign Het
Or10x1 T C 1: 174,196,836 (GRCm39) Y118H probably damaging Het
Or4c125 A T 2: 89,169,806 (GRCm39) I280N probably damaging Het
Or51f1 A T 7: 102,505,686 (GRCm39) S268T probably damaging Het
Pax8 A T 2: 24,332,922 (GRCm39) probably benign Het
Pde5a G A 3: 122,611,658 (GRCm39) C532Y probably damaging Het
Pigq T C 17: 26,150,446 (GRCm39) D442G possibly damaging Het
Pik3c2g T C 6: 139,665,808 (GRCm39) V43A probably benign Het
Pik3cb T C 9: 98,970,716 (GRCm39) N325S probably benign Het
Pot1b T C 17: 56,007,063 (GRCm39) K18R probably benign Het
Ppp1r42 A T 1: 10,069,630 (GRCm39) L144Q probably damaging Het
Prdm13 T A 4: 21,679,455 (GRCm39) Q345L unknown Het
Pyroxd2 T A 19: 42,728,898 (GRCm39) K167N probably benign Het
Rnf123 T C 9: 107,947,930 (GRCm39) Y131C probably damaging Het
Rnf25 T C 1: 74,634,411 (GRCm39) D204G probably damaging Het
Rpf2 G A 10: 40,109,181 (GRCm39) T60I possibly damaging Het
Scaf11 T C 15: 96,317,339 (GRCm39) N742D probably benign Het
Shank1 G A 7: 44,002,075 (GRCm39) D1257N possibly damaging Het
Shc2 A G 10: 79,465,933 (GRCm39) V168A probably damaging Het
Slc16a4 G A 3: 107,199,758 (GRCm39) V2M probably benign Het
Slc24a3 T C 2: 145,455,494 (GRCm39) V461A probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slc4a4 T A 5: 89,345,623 (GRCm39) probably null Het
Snx30 T A 4: 59,879,329 (GRCm39) D189E probably benign Het
Sspo A G 6: 48,472,194 (GRCm39) Q4653R possibly damaging Het
Tpte G T 8: 22,817,806 (GRCm39) R264I probably damaging Het
Tsc22d4 T A 5: 137,757,036 (GRCm39) probably benign Het
Ubn1 T C 16: 4,892,233 (GRCm39) L585P possibly damaging Het
Usp24 A T 4: 106,265,210 (GRCm39) D1781V probably damaging Het
Utp20 A T 10: 88,608,777 (GRCm39) Y1514* probably null Het
Vmn1r55 A T 7: 5,149,995 (GRCm39) Y143N probably damaging Het
Vmn2r65 A G 7: 84,595,862 (GRCm39) V274A probably benign Het
Wnt5b C A 6: 119,417,283 (GRCm39) R156L probably damaging Het
Zan T C 5: 137,433,896 (GRCm39) D2279G unknown Het
Zan T C 5: 137,462,336 (GRCm39) T948A unknown Het
Zfp758 T C 17: 22,591,049 (GRCm39) S4P probably damaging Het
Zfp839 A G 12: 110,822,020 (GRCm39) E278G probably benign Het
Zfp994 T A 17: 22,419,506 (GRCm39) H481L probably damaging Het
Zswim9 G A 7: 12,994,909 (GRCm39) R416C 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
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
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'- ACAAACACATGCTAGCTGTTG -3'
(R):5'- ACCAGGAATGGACCAATAGTTTG -3'

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