Incidental Mutation 'IGL01315:Wdr31'
ID73813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr31
Ensembl Gene ENSMUSG00000028391
Gene NameWD repeat domain 31
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL01315
Quality Score
Status
Chromosome4
Chromosomal Location62448653-62470896 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 62455837 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 306 (V306G)
Ref Sequence ENSEMBL: ENSMUSP00000112719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030087] [ENSMUST00000107452] [ENSMUST00000120095] [ENSMUST00000132263]
Predicted Effect probably damaging
Transcript: ENSMUST00000030087
AA Change: V306G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391
AA Change: V306G

DomainStartEndE-ValueType
WD40 51 89 8.88e0 SMART
WD40 92 131 6.38e-7 SMART
WD40 135 174 2.82e-8 SMART
WD40 177 216 5.31e-4 SMART
Blast:WD40 219 263 2e-10 BLAST
WD40 267 310 1.03e-1 SMART
Blast:WD40 313 352 2e-15 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000107452
AA Change: V305G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391
AA Change: V305G

DomainStartEndE-ValueType
WD40 50 88 8.88e0 SMART
WD40 91 130 6.38e-7 SMART
WD40 134 173 2.82e-8 SMART
WD40 176 215 5.31e-4 SMART
Blast:WD40 218 262 2e-10 BLAST
WD40 266 309 1.03e-1 SMART
Blast:WD40 312 351 2e-15 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000120095
AA Change: V306G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391
AA Change: V306G

DomainStartEndE-ValueType
WD40 51 89 8.88e0 SMART
WD40 92 131 6.38e-7 SMART
WD40 135 174 2.82e-8 SMART
WD40 177 216 5.31e-4 SMART
Blast:WD40 219 263 2e-10 BLAST
WD40 267 310 1.03e-1 SMART
Blast:WD40 313 352 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000132263
SMART Domains Protein: ENSMUSP00000120684
Gene: ENSMUSG00000028391

DomainStartEndE-ValueType
WD40 16 55 5.31e-4 SMART
Blast:WD40 58 100 3e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153615
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 T C 5: 30,893,234 S409P probably benign Het
Ankdd1a T A 9: 65,508,702 H187L probably damaging Het
Ap2a1 A T 7: 44,916,289 D51E possibly damaging Het
Cog5 T A 12: 31,760,986 probably benign Het
Eif3h T C 15: 51,842,485 D91G probably damaging Het
Ell2 A G 13: 75,762,232 probably benign Het
Epha4 A G 1: 77,398,557 V551A probably benign Het
Gpc2 A G 5: 138,276,039 S354P probably benign Het
Gramd1a A G 7: 31,142,568 F140L probably damaging Het
Hnmt A G 2: 24,019,168 Y78H probably benign Het
Ighe T A 12: 113,271,352 H396L unknown Het
Krt83 A G 15: 101,486,967 probably benign Het
Mgat5b T C 11: 116,923,389 S40P probably damaging Het
Mov10 A G 3: 104,795,945 V876A probably damaging Het
Nbeal1 T C 1: 60,281,341 V2031A probably damaging Het
Nov T C 15: 54,749,260 S222P probably damaging Het
Ntm T A 9: 29,014,184 S26C probably damaging Het
Pcsk5 G A 19: 17,451,958 T1552I probably damaging Het
Pex1 A T 5: 3,609,975 D453V probably damaging Het
Pkd2l1 C T 19: 44,192,196 D27N probably benign Het
Plppr5 G T 3: 117,662,526 C232F probably damaging Het
Slc39a2 G T 14: 51,895,136 E179* probably null Het
Slc8a3 A G 12: 81,314,395 V550A probably damaging Het
Smc5 T A 19: 23,231,604 T626S probably benign Het
Tars A C 15: 11,389,734 Y363* probably null Het
Unc79 T C 12: 103,088,521 I906T possibly damaging Het
Ush2a C T 1: 188,633,614 P2222S possibly damaging Het
Zdhhc1 C A 8: 105,472,998 R389S probably benign Het
Other mutations in Wdr31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Wdr31 APN 4 62457520 missense probably damaging 1.00
IGL02345:Wdr31 APN 4 62458846 missense possibly damaging 0.89
IGL03192:Wdr31 APN 4 62453912 missense possibly damaging 0.73
R0045:Wdr31 UTSW 4 62464033 missense possibly damaging 0.81
R0257:Wdr31 UTSW 4 62460518 critical splice donor site probably null
R0486:Wdr31 UTSW 4 62453893 missense probably damaging 1.00
R1983:Wdr31 UTSW 4 62460603 missense probably damaging 1.00
R2081:Wdr31 UTSW 4 62455943 missense probably benign 0.00
R3620:Wdr31 UTSW 4 62457464 missense possibly damaging 0.95
R4256:Wdr31 UTSW 4 62457438 critical splice donor site probably null
R4303:Wdr31 UTSW 4 62460389 missense probably damaging 1.00
R4562:Wdr31 UTSW 4 62453922 missense probably damaging 1.00
R5747:Wdr31 UTSW 4 62463400 missense probably damaging 0.98
R5986:Wdr31 UTSW 4 62455876 missense probably benign 0.02
R6170:Wdr31 UTSW 4 62463424 missense probably damaging 1.00
R6887:Wdr31 UTSW 4 62457565 missense probably benign 0.03
R7126:Wdr31 UTSW 4 62463429 missense probably benign 0.00
R7469:Wdr31 UTSW 4 62457531 missense probably damaging 0.99
R7653:Wdr31 UTSW 4 62463429 missense probably benign 0.00
R7727:Wdr31 UTSW 4 62460636 missense probably damaging 0.99
R8255:Wdr31 UTSW 4 62463397 missense probably benign 0.00
Posted On2013-10-07