Incidental Mutation 'R6014:Wdr64'
ID 479890
Institutional Source Beutler Lab
Gene Symbol Wdr64
Ensembl Gene ENSMUSG00000026523
Gene Name WD repeat domain 64
Synonyms 4930415O10Rik, 4930511H01Rik
MMRRC Submission 044190-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6014 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 175526159-175643300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 175633556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 936 (F936L)
Ref Sequence ENSEMBL: ENSMUSP00000128678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094288] [ENSMUST00000171939] [ENSMUST00000194087] [ENSMUST00000194783]
AlphaFold Q9D565
Predicted Effect probably benign
Transcript: ENSMUST00000094288
AA Change: F946L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: F946L

DomainStartEndE-ValueType
WD40 118 159 2.65e1 SMART
WD40 162 200 2.13e1 SMART
low complexity region 259 271 N/A INTRINSIC
Blast:WD40 277 316 5e-19 BLAST
WD40 323 361 2.4e-1 SMART
WD40 365 404 8.29e-1 SMART
WD40 407 449 1.7e2 SMART
WD40 457 493 1.19e1 SMART
WD40 497 538 4.55e-3 SMART
WD40 643 684 3.31e0 SMART
WD40 742 806 7.4e0 SMART
Blast:WD40 811 851 7e-17 BLAST
WD40 864 903 4.62e-4 SMART
Blast:XPGN 921 964 9e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000171939
AA Change: F936L

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: F936L

DomainStartEndE-ValueType
WD40 151 190 5.73e0 SMART
low complexity region 249 261 N/A INTRINSIC
Blast:WD40 267 306 4e-19 BLAST
WD40 313 351 2.4e-1 SMART
WD40 355 394 8.29e-1 SMART
WD40 397 439 1.7e2 SMART
WD40 447 483 1.19e1 SMART
WD40 487 528 4.55e-3 SMART
WD40 633 674 3.31e0 SMART
WD40 732 796 7.4e0 SMART
Blast:WD40 801 841 5e-17 BLAST
WD40 854 893 4.62e-4 SMART
Blast:XPGN 911 954 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000194087
AA Change: F936L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: F936L

DomainStartEndE-ValueType
WD40 151 190 3.6e-2 SMART
low complexity region 249 261 N/A INTRINSIC
Blast:WD40 267 305 5e-19 BLAST
WD40 313 351 1.5e-3 SMART
WD40 355 394 5.2e-3 SMART
WD40 397 439 1.1e0 SMART
WD40 447 483 7.6e-2 SMART
WD40 487 528 2.9e-5 SMART
WD40 633 674 2.1e-2 SMART
WD40 732 796 4.7e-2 SMART
Blast:WD40 801 841 6e-17 BLAST
WD40 854 893 2.9e-6 SMART
Blast:XPGN 911 954 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000194783
AA Change: F495L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141384
Gene: ENSMUSG00000026523
AA Change: F495L

DomainStartEndE-ValueType
WD40 6 42 7.6e-2 SMART
WD40 46 87 2.9e-5 SMART
WD40 192 233 2.1e-2 SMART
WD40 291 355 4.7e-2 SMART
Blast:WD40 360 400 4e-17 BLAST
WD40 413 452 2.9e-6 SMART
Blast:XPGN 470 519 3e-19 BLAST
Meta Mutation Damage Score 0.0667 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (67/67)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A T 2: 35,244,881 (GRCm39) M157K probably benign Het
A2ml1 C T 6: 128,548,948 (GRCm39) C278Y probably damaging Het
Abcc2 A T 19: 43,815,174 (GRCm39) Q1187L probably benign Het
Adcy9 A T 16: 4,236,683 (GRCm39) Y6N probably damaging Het
Adh1 T C 3: 137,992,559 (GRCm39) I225T probably benign Het
Akap11 A T 14: 78,749,939 (GRCm39) I816K probably benign Het
Ap1b1 T A 11: 4,969,364 (GRCm39) M240K possibly damaging Het
Apex1 A T 14: 51,162,982 (GRCm39) T17S probably benign Het
Arhgap21 C T 2: 20,886,616 (GRCm39) G26D probably damaging Het
Bahcc1 A G 11: 120,180,615 (GRCm39) Y2613C probably benign Het
Baz1b C T 5: 135,246,248 (GRCm39) R566W probably damaging Het
Casp8ap2 A T 4: 32,641,400 (GRCm39) Y818F probably damaging Het
Col3a1 T A 1: 45,360,739 (GRCm39) C56* probably null Het
Coro2a G A 4: 46,542,261 (GRCm39) P371S probably damaging Het
Cyp2a22 T A 7: 26,638,605 (GRCm39) probably null Het
Dpysl3 T A 18: 43,494,132 (GRCm39) I183F probably damaging Het
Drc1 A T 5: 30,502,993 (GRCm39) N172I probably damaging Het
Dst T C 1: 34,303,915 (GRCm39) Y1378H probably damaging Het
Dync2i2 C T 2: 29,921,763 (GRCm39) A533T probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l3 A T 17: 69,590,955 (GRCm39) T91S probably damaging Het
Exoc4 T C 6: 33,452,932 (GRCm39) V474A probably benign Het
Fam229b G A 10: 38,994,989 (GRCm39) T56I probably damaging Het
Gfm2 A G 13: 97,288,169 (GRCm39) probably null Het
Git2 C T 5: 114,871,938 (GRCm39) E152K probably benign Het
Golt1b T A 6: 142,341,943 (GRCm39) I109N probably damaging Het
Grid2ip T A 5: 143,373,578 (GRCm39) M783K possibly damaging Het
Inpp5a A G 7: 139,154,898 (GRCm39) Y339C probably damaging Het
Isoc2a T C 7: 4,894,625 (GRCm39) S103P probably damaging Het
Itih4 C A 14: 30,614,586 (GRCm39) Q483K probably benign Het
Kansl2 A G 15: 98,418,197 (GRCm39) probably null Het
Kdm5d G A Y: 921,528 (GRCm39) A509T probably benign Het
Krt13 A T 11: 100,008,437 (GRCm39) D433E unknown Het
Lat2 C T 5: 134,632,308 (GRCm39) V142M probably damaging Het
Lemd1 A C 1: 132,184,463 (GRCm39) *102S probably null Het
Lrfn2 T C 17: 49,376,934 (GRCm39) L5P possibly damaging Het
Lrrc4c T G 2: 97,459,557 (GRCm39) probably null Het
Lypla1 T A 1: 4,878,594 (GRCm39) probably null Het
Magi2 G A 5: 20,816,091 (GRCm39) G744R probably damaging Het
Myh14 T A 7: 44,274,502 (GRCm39) E948V probably null Het
Myo5a C A 9: 75,074,489 (GRCm39) Y799* probably null Het
Nacc1 A C 8: 85,401,700 (GRCm39) M371R possibly damaging Het
Nlrp5 T G 7: 23,109,372 (GRCm39) M106R probably benign Het
Oas1h C T 5: 121,005,229 (GRCm39) H226Y possibly damaging Het
Obscn A C 11: 58,929,690 (GRCm39) I5175R probably damaging Het
Pcdh7 T A 5: 57,878,497 (GRCm39) I684N probably damaging Het
Pcdhb3 T A 18: 37,435,706 (GRCm39) N557K probably damaging Het
Pde3b T C 7: 114,015,675 (GRCm39) L297S probably damaging Het
Pigv G T 4: 133,392,740 (GRCm39) H143Q probably benign Het
Ptk2 T G 15: 73,176,293 (GRCm39) Y251S possibly damaging Het
Ralgds A G 2: 28,433,673 (GRCm39) N219S probably damaging Het
Sardh C A 2: 27,087,540 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,356 (GRCm39) K212N possibly damaging Het
Sh3bp2 A G 5: 34,716,971 (GRCm39) N461D probably benign Het
Shisa2 A T 14: 59,867,357 (GRCm39) Q203L probably damaging Het
Shmt1 C A 11: 60,688,383 (GRCm39) G255V probably damaging Het
Socs1 T A 16: 10,602,357 (GRCm39) I127F possibly damaging Het
Srcap A T 7: 127,137,922 (GRCm39) T1091S probably benign Het
Syt14 A G 1: 192,613,003 (GRCm39) I599T probably damaging Het
Tep1 A T 14: 51,084,457 (GRCm39) N907K probably benign Het
Themis2 A G 4: 132,513,291 (GRCm39) Y312H probably benign Het
Tubgcp5 T G 7: 55,473,357 (GRCm39) S812A probably benign Het
Ush2a A T 1: 188,582,237 (GRCm39) I3767F probably damaging Het
Usp40 T A 1: 87,907,738 (GRCm39) E626V probably damaging Het
Utrn T C 10: 12,566,620 (GRCm39) R1181G probably benign Het
Vmn2r117 T A 17: 23,698,535 (GRCm39) I13F probably damaging Het
Wdr48 G T 9: 119,753,775 (GRCm39) V646F probably damaging Het
Other mutations in Wdr64
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Wdr64 APN 1 175,526,366 (GRCm39) missense probably benign 0.00
IGL00902:Wdr64 APN 1 175,556,391 (GRCm39) missense probably damaging 1.00
IGL01347:Wdr64 APN 1 175,547,899 (GRCm39) missense probably benign 0.12
IGL01353:Wdr64 APN 1 175,559,151 (GRCm39) missense probably damaging 0.96
IGL01583:Wdr64 APN 1 175,594,722 (GRCm39) critical splice donor site probably null
IGL01643:Wdr64 APN 1 175,599,877 (GRCm39) missense probably damaging 1.00
IGL01673:Wdr64 APN 1 175,627,922 (GRCm39) missense possibly damaging 0.68
IGL01992:Wdr64 APN 1 175,533,637 (GRCm39) missense probably damaging 1.00
IGL02613:Wdr64 APN 1 175,594,613 (GRCm39) nonsense probably null
IGL02834:Wdr64 APN 1 175,633,415 (GRCm39) splice site probably benign
IGL03214:Wdr64 APN 1 175,571,201 (GRCm39) splice site probably benign
IGL03305:Wdr64 APN 1 175,583,152 (GRCm39) missense possibly damaging 0.94
IGL03308:Wdr64 APN 1 175,594,562 (GRCm39) unclassified probably benign
PIT4418001:Wdr64 UTSW 1 175,571,160 (GRCm39) nonsense probably null
R0036:Wdr64 UTSW 1 175,556,496 (GRCm39) nonsense probably null
R0041:Wdr64 UTSW 1 175,554,037 (GRCm39) nonsense probably null
R0041:Wdr64 UTSW 1 175,554,037 (GRCm39) nonsense probably null
R0079:Wdr64 UTSW 1 175,622,668 (GRCm39) missense probably benign 0.02
R0380:Wdr64 UTSW 1 175,597,208 (GRCm39) splice site probably benign
R0486:Wdr64 UTSW 1 175,622,769 (GRCm39) splice site probably benign
R0520:Wdr64 UTSW 1 175,553,958 (GRCm39) missense probably damaging 1.00
R0598:Wdr64 UTSW 1 175,633,465 (GRCm39) missense probably damaging 1.00
R0711:Wdr64 UTSW 1 175,599,751 (GRCm39) missense probably benign 0.39
R0746:Wdr64 UTSW 1 175,620,539 (GRCm39) missense possibly damaging 0.92
R0927:Wdr64 UTSW 1 175,620,647 (GRCm39) missense probably damaging 0.97
R0947:Wdr64 UTSW 1 175,603,315 (GRCm39) missense probably benign
R1014:Wdr64 UTSW 1 175,583,192 (GRCm39) missense probably damaging 1.00
R1332:Wdr64 UTSW 1 175,622,706 (GRCm39) missense possibly damaging 0.82
R1416:Wdr64 UTSW 1 175,633,568 (GRCm39) missense probably benign 0.01
R1421:Wdr64 UTSW 1 175,594,716 (GRCm39) missense possibly damaging 0.85
R1467:Wdr64 UTSW 1 175,603,288 (GRCm39) missense probably benign 0.00
R1467:Wdr64 UTSW 1 175,603,288 (GRCm39) missense probably benign 0.00
R1796:Wdr64 UTSW 1 175,544,897 (GRCm39) missense probably damaging 1.00
R1797:Wdr64 UTSW 1 175,639,585 (GRCm39) missense probably damaging 1.00
R2145:Wdr64 UTSW 1 175,594,661 (GRCm39) missense probably benign 0.01
R2321:Wdr64 UTSW 1 175,622,653 (GRCm39) missense possibly damaging 0.57
R2449:Wdr64 UTSW 1 175,526,479 (GRCm39) missense probably benign
R4049:Wdr64 UTSW 1 175,633,422 (GRCm39) missense probably benign 0.21
R4155:Wdr64 UTSW 1 175,597,172 (GRCm39) missense probably benign 0.03
R4624:Wdr64 UTSW 1 175,599,829 (GRCm39) missense probably benign
R4661:Wdr64 UTSW 1 175,554,060 (GRCm39) missense probably damaging 1.00
R4711:Wdr64 UTSW 1 175,626,795 (GRCm39) missense probably damaging 1.00
R4891:Wdr64 UTSW 1 175,526,345 (GRCm39) unclassified probably benign
R4925:Wdr64 UTSW 1 175,552,268 (GRCm39) splice site probably null
R4943:Wdr64 UTSW 1 175,547,882 (GRCm39) missense probably benign 0.01
R5000:Wdr64 UTSW 1 175,553,941 (GRCm39) splice site probably null
R5001:Wdr64 UTSW 1 175,620,525 (GRCm39) critical splice acceptor site probably null
R5143:Wdr64 UTSW 1 175,553,979 (GRCm39) missense probably damaging 1.00
R5395:Wdr64 UTSW 1 175,583,164 (GRCm39) missense probably damaging 1.00
R5813:Wdr64 UTSW 1 175,639,623 (GRCm39) missense possibly damaging 0.89
R6417:Wdr64 UTSW 1 175,553,956 (GRCm39) missense probably damaging 1.00
R6456:Wdr64 UTSW 1 175,613,175 (GRCm39) critical splice donor site probably null
R6555:Wdr64 UTSW 1 175,547,856 (GRCm39) missense probably damaging 1.00
R6576:Wdr64 UTSW 1 175,633,494 (GRCm39) missense possibly damaging 0.82
R6797:Wdr64 UTSW 1 175,638,176 (GRCm39) critical splice donor site probably null
R6891:Wdr64 UTSW 1 175,533,634 (GRCm39) missense probably damaging 1.00
R6959:Wdr64 UTSW 1 175,533,555 (GRCm39) missense probably damaging 1.00
R7205:Wdr64 UTSW 1 175,617,499 (GRCm39) missense probably benign 0.34
R7252:Wdr64 UTSW 1 175,603,240 (GRCm39) missense probably benign 0.00
R7552:Wdr64 UTSW 1 175,613,147 (GRCm39) missense possibly damaging 0.71
R7732:Wdr64 UTSW 1 175,617,495 (GRCm39) missense probably benign
R7777:Wdr64 UTSW 1 175,617,564 (GRCm39) missense possibly damaging 0.71
R7780:Wdr64 UTSW 1 175,556,542 (GRCm39) missense probably damaging 1.00
R7810:Wdr64 UTSW 1 175,559,092 (GRCm39) missense probably benign 0.01
R7833:Wdr64 UTSW 1 175,591,511 (GRCm39) missense probably damaging 1.00
R7843:Wdr64 UTSW 1 175,639,668 (GRCm39) missense probably benign 0.00
R7887:Wdr64 UTSW 1 175,613,111 (GRCm39) missense not run
R7991:Wdr64 UTSW 1 175,554,051 (GRCm39) missense probably benign 0.36
R8124:Wdr64 UTSW 1 175,626,844 (GRCm39) splice site probably null
R8129:Wdr64 UTSW 1 175,603,154 (GRCm39) missense probably damaging 0.96
R8673:Wdr64 UTSW 1 175,633,584 (GRCm39) missense probably damaging 1.00
R8728:Wdr64 UTSW 1 175,559,079 (GRCm39) missense probably benign 0.01
R8786:Wdr64 UTSW 1 175,636,327 (GRCm39) nonsense probably null
R8822:Wdr64 UTSW 1 175,544,920 (GRCm39) missense probably damaging 1.00
R8842:Wdr64 UTSW 1 175,599,893 (GRCm39) missense probably benign 0.02
R8887:Wdr64 UTSW 1 175,599,850 (GRCm39) missense probably benign 0.17
R9014:Wdr64 UTSW 1 175,526,395 (GRCm39) missense probably benign
R9330:Wdr64 UTSW 1 175,554,024 (GRCm39) missense possibly damaging 0.93
R9332:Wdr64 UTSW 1 175,599,871 (GRCm39) missense possibly damaging 0.71
R9465:Wdr64 UTSW 1 175,618,823 (GRCm39) missense possibly damaging 0.53
R9716:Wdr64 UTSW 1 175,622,658 (GRCm39) missense probably benign
R9717:Wdr64 UTSW 1 175,544,854 (GRCm39) missense probably damaging 1.00
Z1088:Wdr64 UTSW 1 175,533,551 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- AAGGCAACCCCTATGCTCTATG -3'
(R):5'- CTTCCATGGGGCTTCAAAATTATTG -3'

Sequencing Primer
(F):5'- TCTATGGCCCGTGCTCAAG -3'
(R):5'- CTCATTGTGTCACAGTGC -3'
Posted On 2017-06-26