Incidental Mutation 'R2010:Wdr20rt'
ID219540
Institutional Source Beutler Lab
Gene Symbol Wdr20rt
Ensembl Gene ENSMUSG00000035560
Gene NameWD repeat domain 20, retrogene
Synonyms4921538B03Rik, Wdr20b, 4930427E19Rik
MMRRC Submission 040019-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.509) question?
Stock #R2010 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location65225517-65233359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 65227214 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 311 (H311N)
Ref Sequence ENSEMBL: ENSMUSP00000152626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046331] [ENSMUST00000221658] [ENSMUST00000221980] [ENSMUST00000222822]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046331
AA Change: H484N

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036682
Gene: ENSMUSG00000035560
AA Change: H484N

DomainStartEndE-ValueType
WD40 140 178 1.33e1 SMART
WD40 205 246 1.38e-2 SMART
WD40 249 288 1.57e-6 SMART
WD40 291 380 8.29e-1 SMART
low complexity region 465 478 N/A INTRINSIC
Blast:WD40 480 557 1e-29 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000221658
Predicted Effect possibly damaging
Transcript: ENSMUST00000221980
AA Change: H311N

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000222822
AA Change: H383N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik G A 3: 36,481,806 G74S unknown Het
4930452B06Rik A T 14: 8,511,021 F464L probably damaging Het
4932438A13Rik T G 3: 36,928,551 N788K probably benign Het
Aimp1 A T 3: 132,667,492 L229Q probably benign Het
Arhgef6 T C X: 57,299,505 T52A possibly damaging Het
Aste1 C A 9: 105,403,502 H25Q probably damaging Het
Atp13a1 G A 8: 69,791,360 G36R possibly damaging Het
Bahcc1 T C 11: 120,272,778 V634A probably damaging Het
C1s1 A T 6: 124,537,394 Y168N probably damaging Het
Camsap2 T C 1: 136,274,868 S612G probably damaging Het
Cdh23 C A 10: 60,314,227 R2611L probably damaging Het
Cilp2 A G 8: 69,881,694 Y885H probably damaging Het
D430042O09Rik A G 7: 125,872,956 I1544M possibly damaging Het
Dhrs3 C T 4: 144,927,188 T227I possibly damaging Het
Dnah2 A T 11: 69,458,358 probably null Het
Dnah3 T G 7: 120,095,177 M1L probably benign Het
Ehbp1l1 A G 19: 5,719,283 I664T probably benign Het
Eif4e C T 3: 138,555,458 T171I probably benign Het
Elfn1 C T 5: 139,973,316 R692W probably damaging Het
Eps8l3 T A 3: 107,879,372 M1K probably null Het
Evi5 C A 5: 107,813,545 probably null Het
Fancd2 A T 6: 113,593,291 D1401V probably damaging Het
Fat2 G A 11: 55,253,827 R4074C probably damaging Het
Fkbp4 A T 6: 128,435,802 V55E probably benign Het
Fnip1 A G 11: 54,482,503 D180G probably damaging Het
Galc A G 12: 98,254,230 F126S possibly damaging Het
Gdf7 C T 12: 8,301,729 V69M unknown Het
Glis2 A G 16: 4,608,711 E22G probably damaging Het
Hist1h2bb G A 13: 23,747,128 V112M possibly damaging Het
Hps4 T A 5: 112,369,476 V243E probably damaging Het
Ighe T A 12: 113,271,488 I351F unknown Het
Irak4 A T 15: 94,551,806 R55S probably damaging Het
Itpr2 G A 6: 146,227,524 probably null Het
Kirrel3 T C 9: 34,939,198 Y41H probably damaging Het
Krr1 A G 10: 111,975,569 E56G possibly damaging Het
Lgi1 G A 19: 38,301,235 V250I probably damaging Het
Lipf A G 19: 33,973,546 N306D probably benign Het
Lman2l C T 1: 36,445,181 W18* probably null Het
Lztfl1 T A 9: 123,702,186 N239I possibly damaging Het
Mief1 T C 15: 80,247,925 S66P possibly damaging Het
Mmp8 C A 9: 7,567,534 S465* probably null Het
Muc2 A T 7: 141,700,875 T208S probably damaging Het
Myh8 A T 11: 67,297,164 K921* probably null Het
Myh9 T C 15: 77,771,947 E1121G probably benign Het
Nbn T C 4: 15,969,393 S213P probably damaging Het
Nol10 A G 12: 17,416,101 E499G probably benign Het
Nxn T C 11: 76,398,801 E87G probably damaging Het
Olfr293 A G 7: 86,664,603 T314A probably benign Het
Olfr568 T A 7: 102,877,685 C188* probably null Het
Olfr937 T C 9: 39,060,099 H189R probably benign Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,775,354 probably benign Het
Pigk A G 3: 152,766,514 I354M probably damaging Het
Pigl T A 11: 62,458,682 C75S probably damaging Het
Pm20d1 T A 1: 131,812,114 I400N probably benign Het
Prkg2 T A 5: 99,024,805 H17L probably benign Het
Psmd1 T A 1: 86,075,997 L168Q probably damaging Het
Rab3gap2 A T 1: 185,278,281 H1136L possibly damaging Het
Rb1 T C 14: 73,294,993 T134A probably benign Het
Rims1 T C 1: 22,296,996 E1024G probably damaging Het
Rrp12 A G 19: 41,872,937 V977A probably benign Het
Rusc2 C T 4: 43,415,212 P173S probably benign Het
Selenov A T 7: 28,288,022 D310E probably damaging Het
Serpina3f T A 12: 104,217,323 L148Q probably damaging Het
Slc10a1 C T 12: 80,960,447 V187I probably benign Het
Spsb2 A G 6: 124,810,376 K258E probably damaging Het
Tas2r105 A C 6: 131,687,402 V21G probably benign Het
Tmem229b-ps T A 10: 53,475,199 noncoding transcript Het
Tnrc6a C G 7: 123,171,046 H686Q probably benign Het
Trpc2 T A 7: 102,094,573 F715L probably benign Het
Ube2t T A 1: 134,969,298 I56N probably benign Het
Ubr4 T C 4: 139,480,652 Y4915H possibly damaging Het
Usp32 T A 11: 85,040,004 E533D probably damaging Het
Vipr2 T G 12: 116,122,810 probably null Het
Vmn1r15 A G 6: 57,258,284 T46A probably benign Het
Vmn1r203 T G 13: 22,524,447 S133A possibly damaging Het
Vmn1r215 T G 13: 23,076,208 N139K probably damaging Het
Vmn1r232 C T 17: 20,913,339 R333H probably benign Het
Zranb1 T C 7: 132,966,696 probably null Het
Other mutations in Wdr20rt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Wdr20rt APN 12 65225970 missense possibly damaging 0.95
IGL02142:Wdr20rt APN 12 65227265 missense probably benign 0.22
IGL02938:Wdr20rt APN 12 65225918 missense probably benign 0.01
R0501:Wdr20rt UTSW 12 65225807 missense probably benign 0.02
R0548:Wdr20rt UTSW 12 65227315 missense probably benign 0.00
R0652:Wdr20rt UTSW 12 65225915 missense probably damaging 0.98
R1715:Wdr20rt UTSW 12 65227314 missense probably damaging 0.98
R1733:Wdr20rt UTSW 12 65227281 missense possibly damaging 0.87
R1851:Wdr20rt UTSW 12 65227151 missense possibly damaging 0.89
R2214:Wdr20rt UTSW 12 65227413 missense probably damaging 1.00
R2254:Wdr20rt UTSW 12 65226233 missense probably damaging 1.00
R4793:Wdr20rt UTSW 12 65226621 missense probably damaging 0.99
R5169:Wdr20rt UTSW 12 65227410 missense probably damaging 0.99
R6238:Wdr20rt UTSW 12 65226190 start gained probably benign
R7018:Wdr20rt UTSW 12 65225762 utr 5 prime probably null
R7143:Wdr20rt UTSW 12 65225918 missense probably benign 0.08
R7707:Wdr20rt UTSW 12 65226207 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTACACCTGGGAACTCTGTG -3'
(R):5'- CCTGACAAGCAGTGACTATACAG -3'

Sequencing Primer
(F):5'- GGAACTCTGTGCCCCCTC -3'
(R):5'- GTCTTCAAGAAAAACCAATACCGTC -3'
Posted On2014-08-25