Incidental Mutation 'R4922:Wdr75'
ID 434626
Institutional Source Beutler Lab
Gene Symbol Wdr75
Ensembl Gene ENSMUSG00000025995
Gene Name WD repeat domain 75
Synonyms 1300003A18Rik, 2410118I19Rik
MMRRC Submission 042524-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R4922 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 45834326-45862779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45855638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 430 (F430L)
Ref Sequence ENSEMBL: ENSMUSP00000027139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027139]
AlphaFold Q3U821
Predicted Effect probably damaging
Transcript: ENSMUST00000027139
AA Change: F430L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027139
Gene: ENSMUSG00000025995
AA Change: F430L

DomainStartEndE-ValueType
WD40 4 42 3.82e1 SMART
WD40 45 85 1.25e-9 SMART
WD40 185 230 1.61e-3 SMART
WD40 239 275 4.44e0 SMART
WD40 278 317 7.67e0 SMART
low complexity region 405 417 N/A INTRINSIC
WD40 431 473 7.67e0 SMART
WD40 486 524 3.08e0 SMART
WD40 527 568 3.96e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154436
Meta Mutation Damage Score 0.2785 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,901,645 (GRCm39) C423F probably damaging Het
Akap11 A T 14: 78,750,220 (GRCm39) Y722* probably null Het
Albfm1 A G 5: 90,727,570 (GRCm39) H396R possibly damaging Het
Anxa3 A T 5: 96,968,288 (GRCm39) I114F probably damaging Het
Arfgef3 T A 10: 18,467,934 (GRCm39) R1755S probably damaging Het
Atf7ip A T 6: 136,537,039 (GRCm39) T91S possibly damaging Het
Bcl2 C A 1: 106,640,376 (GRCm39) A79S probably benign Het
Bltp1 T A 3: 37,041,314 (GRCm39) I2564K probably damaging Het
Bmerb1 A G 16: 13,804,683 (GRCm39) H10R possibly damaging Het
Bmp10 C T 6: 87,410,557 (GRCm39) P117S probably benign Het
Bmpr2 A G 1: 59,906,583 (GRCm39) T559A probably benign Het
Cd200r1 A T 16: 44,610,039 (GRCm39) Y86F probably damaging Het
Cemip T A 7: 83,596,308 (GRCm39) probably benign Het
Cfap251 T C 5: 123,394,116 (GRCm39) V335A probably benign Het
Cfap52 A G 11: 67,822,548 (GRCm39) probably null Het
Chml T C 1: 175,514,712 (GRCm39) H60R possibly damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Clec12a A G 6: 129,336,441 (GRCm39) Y201C probably damaging Het
Col15a1 T C 4: 47,258,719 (GRCm39) V370A probably benign Het
Cpsf3 T C 12: 21,351,538 (GRCm39) I353T probably damaging Het
Csf2rb T A 15: 78,230,667 (GRCm39) V470E probably benign Het
Cyp4a10 C A 4: 115,378,291 (GRCm39) Q126K probably benign Het
Dennd1b T C 1: 139,013,652 (GRCm39) S249P probably damaging Het
Dnase2a A G 8: 85,635,625 (GRCm39) probably null Het
Dpp10 T C 1: 123,305,882 (GRCm39) N490S probably benign Het
Drgx A T 14: 32,330,363 (GRCm39) N160I probably damaging Het
Enc1 C T 13: 97,382,243 (GRCm39) A251V probably benign Het
Fancd2 T C 6: 113,562,434 (GRCm39) V1258A probably benign Het
Fancm G A 12: 65,153,666 (GRCm39) probably null Het
Fbxo16 C T 14: 65,536,657 (GRCm39) T177I probably benign Het
Gm1965 T C 6: 89,123,525 (GRCm39) noncoding transcript Het
Hal A T 10: 93,339,401 (GRCm39) M497L probably damaging Het
Hectd4 T C 5: 121,497,378 (GRCm39) L3936S possibly damaging Het
Hs3st4 G T 7: 123,996,410 (GRCm39) G359W probably damaging Het
Il6st C T 13: 112,639,399 (GRCm39) P608L probably damaging Het
Kctd18 A C 1: 58,004,707 (GRCm39) probably benign Het
Kntc1 T A 5: 123,940,309 (GRCm39) S1636T probably damaging Het
Lrrn1 A T 6: 107,545,311 (GRCm39) S370C probably damaging Het
Mtcl1 A C 17: 66,655,474 (GRCm39) C968G probably benign Het
Mylip G A 13: 45,562,238 (GRCm39) A347T probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncoa4-ps A G 12: 119,226,252 (GRCm39) noncoding transcript Het
Neu4 T A 1: 93,950,200 (GRCm39) V53E probably damaging Het
Nxpe3 T C 16: 55,680,687 (GRCm39) I302V probably benign Het
Or11i1 A T 3: 106,729,576 (GRCm39) C100S probably damaging Het
Or4c15b A T 2: 89,112,811 (GRCm39) L243Q possibly damaging Het
Otos T C 1: 92,572,090 (GRCm39) T79A probably damaging Het
Pde4a T C 9: 21,122,009 (GRCm39) I578T probably damaging Het
Pramel17 T A 4: 101,692,729 (GRCm39) M424L probably benign Het
Prex2 C T 1: 11,240,164 (GRCm39) P927S probably damaging Het
Prune2 A T 19: 17,100,116 (GRCm39) K1873N probably benign Het
Ptk7 C A 17: 46,887,417 (GRCm39) probably null Het
Reln T A 5: 22,200,585 (GRCm39) probably null Het
Rgl2 A G 17: 34,151,749 (GRCm39) probably benign Het
Rnf145 T A 11: 44,448,063 (GRCm39) probably benign Het
Ryr2 T C 13: 11,724,849 (GRCm39) E2488G probably damaging Het
Sgo2b A T 8: 64,379,664 (GRCm39) M1056K possibly damaging Het
Snapc4 A G 2: 26,259,245 (GRCm39) V635A probably benign Het
Snx19 T A 9: 30,348,763 (GRCm39) Y101N probably benign Het
Sorl1 C A 9: 41,925,746 (GRCm39) probably null Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Speer4a2 A T 5: 26,289,791 (GRCm39) I212N probably damaging Het
Tmem30b G A 12: 73,592,488 (GRCm39) P209L probably damaging Het
Trbv12-2 G T 6: 41,096,081 (GRCm39) C52F probably damaging Het
Tsc2 T A 17: 24,819,343 (GRCm39) D1304V probably benign Het
Ugt2b36 T C 5: 87,214,183 (GRCm39) Y487C probably damaging Het
Vmn1r10 T A 6: 57,090,811 (GRCm39) N134K probably damaging Het
Wdr27 C A 17: 15,141,016 (GRCm39) probably null Het
Zfp629 A G 7: 127,211,299 (GRCm39) I170T probably damaging Het
Other mutations in Wdr75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Wdr75 APN 1 45,841,235 (GRCm39) missense probably benign 0.02
IGL00711:Wdr75 APN 1 45,862,541 (GRCm39) missense probably benign 0.00
IGL01350:Wdr75 APN 1 45,857,420 (GRCm39) nonsense probably null
IGL02135:Wdr75 APN 1 45,856,608 (GRCm39) splice site probably null
IGL02135:Wdr75 APN 1 45,853,723 (GRCm39) missense probably damaging 1.00
BB008:Wdr75 UTSW 1 45,858,795 (GRCm39) missense probably benign 0.00
BB018:Wdr75 UTSW 1 45,858,795 (GRCm39) missense probably benign 0.00
FR4976:Wdr75 UTSW 1 45,862,564 (GRCm39) utr 3 prime probably benign
PIT4378001:Wdr75 UTSW 1 45,859,333 (GRCm39) missense probably damaging 0.98
R0060:Wdr75 UTSW 1 45,855,777 (GRCm39) missense probably benign 0.16
R0463:Wdr75 UTSW 1 45,858,762 (GRCm39) missense probably damaging 1.00
R0963:Wdr75 UTSW 1 45,856,470 (GRCm39) missense probably benign 0.07
R1364:Wdr75 UTSW 1 45,838,222 (GRCm39) missense probably benign 0.01
R1382:Wdr75 UTSW 1 45,856,471 (GRCm39) missense probably damaging 1.00
R1562:Wdr75 UTSW 1 45,843,030 (GRCm39) splice site probably null
R1909:Wdr75 UTSW 1 45,862,563 (GRCm39) missense probably benign 0.00
R2968:Wdr75 UTSW 1 45,856,501 (GRCm39) missense probably damaging 1.00
R3972:Wdr75 UTSW 1 45,861,714 (GRCm39) missense probably benign 0.01
R4372:Wdr75 UTSW 1 45,845,833 (GRCm39) unclassified probably benign
R4720:Wdr75 UTSW 1 45,861,645 (GRCm39) missense probably benign 0.05
R5201:Wdr75 UTSW 1 45,862,519 (GRCm39) missense probably benign 0.00
R5242:Wdr75 UTSW 1 45,856,487 (GRCm39) nonsense probably null
R5255:Wdr75 UTSW 1 45,838,277 (GRCm39) missense probably damaging 1.00
R5320:Wdr75 UTSW 1 45,838,211 (GRCm39) missense probably damaging 0.96
R5450:Wdr75 UTSW 1 45,851,324 (GRCm39) missense probably benign 0.26
R6072:Wdr75 UTSW 1 45,838,211 (GRCm39) missense probably damaging 0.96
R6147:Wdr75 UTSW 1 45,858,698 (GRCm39) missense probably benign 0.00
R6341:Wdr75 UTSW 1 45,841,291 (GRCm39) critical splice donor site probably null
R6629:Wdr75 UTSW 1 45,851,216 (GRCm39) missense probably damaging 1.00
R6646:Wdr75 UTSW 1 45,838,247 (GRCm39) missense probably damaging 1.00
R6722:Wdr75 UTSW 1 45,844,512 (GRCm39) splice site probably null
R6750:Wdr75 UTSW 1 45,856,539 (GRCm39) missense probably damaging 1.00
R6850:Wdr75 UTSW 1 45,853,758 (GRCm39) missense probably benign 0.00
R6851:Wdr75 UTSW 1 45,862,587 (GRCm39) missense probably benign
R7172:Wdr75 UTSW 1 45,838,294 (GRCm39) missense probably damaging 1.00
R7248:Wdr75 UTSW 1 45,856,560 (GRCm39) missense probably damaging 1.00
R7809:Wdr75 UTSW 1 45,862,596 (GRCm39) missense probably benign 0.00
R7931:Wdr75 UTSW 1 45,858,795 (GRCm39) missense probably benign 0.00
R7937:Wdr75 UTSW 1 45,858,799 (GRCm39) missense probably benign 0.17
R8171:Wdr75 UTSW 1 45,861,706 (GRCm39) missense probably benign 0.00
R8218:Wdr75 UTSW 1 45,857,342 (GRCm39) missense probably damaging 1.00
R8724:Wdr75 UTSW 1 45,856,560 (GRCm39) missense probably damaging 1.00
R8900:Wdr75 UTSW 1 45,838,287 (GRCm39) missense probably damaging 0.99
R9400:Wdr75 UTSW 1 45,843,064 (GRCm39) missense probably damaging 1.00
R9665:Wdr75 UTSW 1 45,843,013 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACAGTAGGCCTTCAGCTATGATTTG -3'
(R):5'- CAACACAATCTGAGTGAACTTACTG -3'

Sequencing Primer
(F):5'- GTGAGCTGGCCACTATATATAATGC -3'
(R):5'- GTGAACTTACTGTATATGTCAGAGTC -3'
Posted On 2016-10-13