Incidental Mutation 'IGL01305:Wdr61'
ID73385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr61
Ensembl Gene ENSMUSG00000061559
Gene NameWD repeat domain 61
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #IGL01305
Quality Score
Status
Chromosome9
Chromosomal Location54714735-54734519 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 54728186 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 44 (V44L)
Ref Sequence ENSEMBL: ENSMUSP00000113560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051822] [ENSMUST00000118771] [ENSMUST00000121204] [ENSMUST00000127451] [ENSMUST00000130368]
Predicted Effect probably damaging
Transcript: ENSMUST00000051822
AA Change: V44L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056359
Gene: ENSMUSG00000061559
AA Change: V44L

DomainStartEndE-ValueType
WD40 2 48 1.27e-1 SMART
WD40 53 92 7.62e-5 SMART
WD40 95 134 3.99e-1 SMART
WD40 137 176 7.73e-6 SMART
WD40 179 218 3.21e-12 SMART
WD40 221 260 8.81e-10 SMART
WD40 263 302 1.49e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118771
AA Change: V44L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112811
Gene: ENSMUSG00000061559
AA Change: V44L

DomainStartEndE-ValueType
WD40 2 48 1.27e-1 SMART
WD40 53 92 7.62e-5 SMART
WD40 95 134 3.99e-1 SMART
WD40 137 176 7.73e-6 SMART
WD40 179 218 3.21e-12 SMART
WD40 221 260 8.81e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121204
AA Change: V44L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113560
Gene: ENSMUSG00000061559
AA Change: V44L

DomainStartEndE-ValueType
WD40 2 48 1.27e-1 SMART
WD40 53 92 7.62e-5 SMART
WD40 95 134 3.99e-1 SMART
WD40 137 176 7.73e-6 SMART
WD40 179 218 3.21e-12 SMART
WD40 221 260 8.81e-10 SMART
WD40 263 302 1.49e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127451
SMART Domains Protein: ENSMUSP00000119362
Gene: ENSMUSG00000061559

DomainStartEndE-ValueType
WD40 5 36 5.3e1 SMART
WD40 39 78 7.73e-6 SMART
Pfam:WD40 82 107 2.8e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130368
SMART Domains Protein: ENSMUSP00000123077
Gene: ENSMUSG00000061559

DomainStartEndE-ValueType
WD40 5 36 5.3e1 SMART
WD40 39 78 7.73e-6 SMART
WD40 81 120 3.21e-12 SMART
WD40 123 162 8.81e-10 SMART
WD40 165 204 1.49e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148494
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,913,714 E663G possibly damaging Het
Adam29 T A 8: 55,871,844 H525L probably benign Het
Adamts6 T A 13: 104,390,082 V506E probably damaging Het
Ankfy1 G A 11: 72,764,791 E1101K probably damaging Het
Arap3 C T 18: 37,991,327 probably null Het
Asxl3 T A 18: 22,516,446 H497Q probably benign Het
Caln1 A G 5: 130,669,551 E96G probably damaging Het
Cdh23 T C 10: 60,312,624 T2653A probably damaging Het
Cdk5rap2 T A 4: 70,380,235 I87F possibly damaging Het
Chil1 A G 1: 134,182,816 probably benign Het
Col27a1 A G 4: 63,300,741 probably benign Het
Crybg3 T A 16: 59,529,227 H934L probably damaging Het
Cyp2d22 G A 15: 82,371,668 T461I probably damaging Het
Dhcr24 T C 4: 106,572,278 F183L possibly damaging Het
Dnajc13 T C 9: 104,230,637 probably null Het
Dusp16 A T 6: 134,718,861 S336T probably benign Het
F930017D23Rik T G 10: 43,604,375 noncoding transcript Het
Fasl A G 1: 161,781,838 V193A probably damaging Het
Fgf5 T C 5: 98,275,316 Y187H probably damaging Het
Focad C A 4: 88,393,547 Q1423K probably benign Het
Gabrp T C 11: 33,555,055 T249A probably damaging Het
Galnt5 A T 2: 58,025,342 K637* probably null Het
Gm20479 G A 7: 27,357,387 R2525* probably null Het
Grm6 A T 11: 50,859,519 D503V probably benign Het
Hmg20a A T 9: 56,487,650 D216V probably damaging Het
Lyst C T 13: 13,678,056 R2214C probably benign Het
Micu2 T A 14: 57,943,625 D184V probably damaging Het
Nabp2 T A 10: 128,408,762 I52F probably damaging Het
Nat8f7 A T 6: 85,707,588 L90* probably null Het
Olfr1297 T C 2: 111,621,201 N291S probably damaging Het
Olfr30 A T 11: 58,455,262 M229K probably damaging Het
Pphln1 A G 15: 93,489,104 E273G probably damaging Het
Ppil1 C A 17: 29,263,888 V14F possibly damaging Het
Relt A T 7: 100,851,698 L28Q probably damaging Het
Rpl21 A G 5: 146,834,186 probably benign Het
Rrp36 A T 17: 46,668,091 probably benign Het
St8sia5 G A 18: 77,254,662 G320D probably damaging Het
Taf2 T C 15: 55,048,274 E582G probably damaging Het
Tas2r116 T A 6: 132,855,443 N2K probably benign Het
Tmem168 A T 6: 13,583,046 V612E probably damaging Het
Unc79 A G 12: 103,001,871 S119G probably damaging Het
Washc5 T A 15: 59,355,839 K425* probably null Het
Wtap G T 17: 12,967,895 T255K probably benign Het
Zfp148 T C 16: 33,456,943 V134A probably benign Het
Other mutations in Wdr61
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Wdr61 APN 9 54728261 missense probably damaging 1.00
IGL02483:Wdr61 APN 9 54728261 missense probably damaging 1.00
IGL03138:Wdr61 APN 9 54728163 splice site probably benign
ANU22:Wdr61 UTSW 9 54728186 missense probably damaging 1.00
R0360:Wdr61 UTSW 9 54727578 splice site probably benign
R0528:Wdr61 UTSW 9 54722935 splice site probably benign
R3162:Wdr61 UTSW 9 54724189 intron probably benign
R4609:Wdr61 UTSW 9 54728179 missense probably benign 0.28
R6554:Wdr61 UTSW 9 54727645 missense probably damaging 1.00
R7046:Wdr61 UTSW 9 54719255 missense probably damaging 1.00
X0017:Wdr61 UTSW 9 54719279 unclassified probably null
Posted On2013-10-07