Incidental Mutation 'R4097:Wdr17'
ID 317169
Institutional Source Beutler Lab
Gene Symbol Wdr17
Ensembl Gene ENSMUSG00000039375
Gene Name WD repeat domain 17
Synonyms B230207L18Rik, 3010002I12Rik
MMRRC Submission 040984-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4097 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 55082316-55180014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 55088504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Isoleucine at position 1182 (R1182I)
Ref Sequence ENSEMBL: ENSMUSP00000122326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127511] [ENSMUST00000144711] [ENSMUST00000150488] [ENSMUST00000175915]
AlphaFold E9Q271
Predicted Effect possibly damaging
Transcript: ENSMUST00000127511
AA Change: R1214I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: R1214I

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 damaging
Transcript: ENSMUST00000144711
AA Change: R1189I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: R1189I

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 damaging
Transcript: ENSMUST00000150488
AA Change: R1182I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: R1182I

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: R1175I

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: R1175I

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 0.2353 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.1%
Validation Efficiency 100% (48/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,348,228 (GRCm39) F292L probably damaging Het
Ankrd36 A G 11: 5,578,703 (GRCm39) D664G possibly damaging Het
Bbs1 T A 19: 4,947,345 (GRCm39) Y358F probably damaging Het
Becn1 C T 11: 101,185,092 (GRCm39) probably benign Het
Cenpp A T 13: 49,647,265 (GRCm39) N47I possibly damaging Het
Clec4n A T 6: 123,207,700 (GRCm39) H55L possibly damaging Het
Cntnap4 A G 8: 113,478,939 (GRCm39) I222V probably benign Het
Cttnbp2 T C 6: 18,420,871 (GRCm39) E370G probably benign Het
Cyp4a10 T A 4: 115,386,480 (GRCm39) V413E probably damaging Het
Dctn2 C T 10: 127,113,362 (GRCm39) L249F probably damaging Het
Dnah9 T C 11: 65,881,285 (GRCm39) S146G probably damaging Het
Dzip3 A T 16: 48,778,852 (GRCm39) L315* probably null Het
Evpl T C 11: 116,114,003 (GRCm39) E1229G possibly damaging Het
Ice2 T C 9: 69,328,953 (GRCm39) V775A possibly damaging Het
Jmjd1c A G 10: 67,054,787 (GRCm39) E69G probably benign Het
Lrrc66 T A 5: 73,765,047 (GRCm39) R665S possibly damaging Het
Mpdz T A 4: 81,253,937 (GRCm39) H1065L probably damaging Het
Nrf1 C T 6: 30,151,671 (GRCm39) Q503* probably null Het
Nt5dc3 G A 10: 86,669,820 (GRCm39) A472T probably benign Het
Oprk1 T A 1: 5,673,034 (GRCm39) probably benign Het
Or7g17 T C 9: 18,767,933 (GRCm39) I4T probably benign Het
Or9g3 T C 2: 85,590,040 (GRCm39) I227V possibly damaging Het
Pramel6 T G 2: 87,339,697 (GRCm39) F154V probably benign Het
Ralb T C 1: 119,411,228 (GRCm39) D37G probably benign Het
Ranbp9 A T 13: 43,574,733 (GRCm39) Y412N probably damaging Het
Scg2 T A 1: 79,413,538 (GRCm39) D395V probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpine3 T A 14: 62,908,395 (GRCm39) L141Q probably damaging Het
Sgpl1 C T 10: 60,939,017 (GRCm39) G394D probably damaging Het
Sh3pxd2a T C 19: 47,412,951 (GRCm39) Y44C probably damaging Het
Slc6a20b A G 9: 123,441,822 (GRCm39) probably benign Het
Snapc5 T C 9: 64,087,809 (GRCm39) I40T probably damaging Het
Spopl T C 2: 23,401,413 (GRCm39) H365R probably benign Het
Stil T A 4: 114,880,797 (GRCm39) I447N probably benign Het
Taf3 C A 2: 9,957,178 (GRCm39) V330F possibly damaging Het
Tgoln1 T C 6: 72,592,784 (GRCm39) E232G probably damaging Het
Thrap3 A G 4: 126,065,595 (GRCm39) L729P probably damaging Het
Tmem269 A T 4: 119,062,977 (GRCm39) F220Y probably damaging Het
Tnrc18 ATCTTCC A 5: 142,759,561 (GRCm39) probably benign Het
Ubxn6 T C 17: 56,376,712 (GRCm39) T227A probably benign Het
Wdr26 T C 1: 181,010,352 (GRCm39) I550V probably benign Het
Wdr43 A G 17: 71,964,532 (GRCm39) N637S probably benign Het
Zfp516 A G 18: 83,005,381 (GRCm39) T762A 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
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
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'- CTCAAAACTGAAGGGCAAGTTG -3'
(R):5'- TTCCAACCACATGTCTTGAGC -3'

Sequencing Primer
(F):5'- CAGAGTGGGGCTGATCCAG -3'
(R):5'- GAGCATATTAGAGTTCCCAGTGAC -3'
Posted On 2015-05-15