Incidental Mutation 'IGL02345:Wdr31'
ID289253
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: 0.085) question?
Stock #IGL02345
Quality Score
Status
Chromosome4
Chromosomal Location62448653-62470896 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62458846 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 42 (I42T)
Ref Sequence ENSEMBL: ENSMUSP00000120684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030087] [ENSMUST00000107452] [ENSMUST00000120095] [ENSMUST00000132263] [ENSMUST00000155522]
Predicted Effect probably benign
Transcript: ENSMUST00000030087
AA Change: I203T

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391
AA Change: I203T

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: ENSMUST00000107452
AA Change: I202T

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391
AA Change: I202T

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 benign
Transcript: ENSMUST00000120095
AA Change: I203T

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391
AA Change: I203T

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 possibly damaging
Transcript: ENSMUST00000132263
AA Change: I42T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120684
Gene: ENSMUSG00000028391
AA Change: I42T

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
Predicted Effect probably benign
Transcript: ENSMUST00000155522
SMART Domains Protein: ENSMUSP00000123624
Gene: ENSMUSG00000028391

DomainStartEndE-ValueType
Blast:WD40 51 83 3e-16 BLAST
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,396,351 D177Y possibly damaging Het
Casc3 T C 11: 98,827,564 probably benign Het
Cnga1 C T 5: 72,605,272 V300I probably benign Het
Dcun1d4 A G 5: 73,511,152 D41G probably damaging Het
Dnm1l T C 16: 16,329,894 S181G possibly damaging Het
Dyrk1a T G 16: 94,671,362 S242A possibly damaging Het
Fcgbp T A 7: 28,071,643 probably benign Het
Fibcd1 T C 2: 31,816,592 Y409C probably damaging Het
Fig4 A T 10: 41,267,774 W230R probably null Het
Flt1 T C 5: 147,582,626 S960G probably benign Het
Fyb A G 15: 6,619,662 S390G possibly damaging Het
Gbx2 T C 1: 89,928,976 T231A probably benign Het
Gm16432 G A 1: 178,015,188 V60I possibly damaging Het
Gm5852 T A 3: 93,727,748 noncoding transcript Het
Lmo7 T C 14: 101,887,473 V456A probably damaging Het
Mark3 A G 12: 111,627,107 N191S probably damaging Het
Olfr871 C A 9: 20,213,018 S223Y possibly damaging Het
Pik3c2a C T 7: 116,405,891 E381K probably damaging Het
Pik3r5 A G 11: 68,492,726 D457G probably benign Het
Plcg2 T C 8: 117,585,180 S404P probably damaging Het
Prr16 T C 18: 51,303,229 F260S probably damaging Het
Psd4 T C 2: 24,401,823 probably null Het
Ptgs1 A G 2: 36,242,971 D327G probably null Het
Rgsl1 C T 1: 153,804,009 probably null Het
Spg20 T A 3: 55,117,726 probably null Het
Sugp1 A G 8: 70,043,084 probably benign Het
Tubgcp3 A T 8: 12,625,056 I713N probably damaging Het
Usp19 A G 9: 108,493,858 T240A probably benign Het
Vash2 A G 1: 190,978,215 V81A probably benign Het
Vmn2r41 T G 7: 8,138,768 N566H probably damaging Het
Zfp292 C T 4: 34,809,244 V1272I possibly damaging Het
Zfp638 C T 6: 83,984,875 R1899C probably damaging Het
Other mutations in Wdr31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Wdr31 APN 4 62457520 missense probably damaging 1.00
IGL01315:Wdr31 APN 4 62455837 missense probably damaging 1.00
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 On2015-04-16