Incidental Mutation 'R6887:Wdr31'
ID 536986
Institutional Source Beutler Lab
Gene Symbol Wdr31
Ensembl Gene ENSMUSG00000028391
Gene Name WD repeat domain 31
Synonyms 5430402I10Rik
MMRRC Submission 044981-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6887 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 62366890-62389133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62375802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 58 (G58R)
Ref Sequence ENSEMBL: ENSMUSP00000120684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030087] [ENSMUST00000107452] [ENSMUST00000120095] [ENSMUST00000132263]
AlphaFold Q9JHB4
Predicted Effect probably benign
Transcript: ENSMUST00000030087
AA Change: G219R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391
AA Change: G219R

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: G218R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391
AA Change: G218R

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: G219R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391
AA Change: G219R

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
AA Change: G58R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000120684
Gene: ENSMUSG00000028391
AA Change: G58R

DomainStartEndE-ValueType
WD40 16 55 5.31e-4 SMART
Blast:WD40 58 100 3e-9 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 78,742,231 (GRCm39) V543I probably damaging Het
Adcy5 A G 16: 35,118,960 (GRCm39) I1104V possibly damaging Het
Adgrl4 A T 3: 151,248,370 (GRCm39) I681F possibly damaging Het
Adgrv1 T A 13: 81,676,820 (GRCm39) M2004L probably benign Het
Anapc1 A G 2: 128,501,688 (GRCm39) S785P possibly damaging Het
Ap3d1 A T 10: 80,559,532 (GRCm39) I242N probably damaging Het
Arhgap5 T C 12: 52,565,927 (GRCm39) L966P probably benign Het
Atp8a1 T C 5: 67,895,794 (GRCm39) T547A probably benign Het
Cadps A G 14: 12,505,811 (GRCm38) F753S probably damaging Het
Cdc20b T C 13: 113,215,187 (GRCm39) S252P possibly damaging Het
Cep63 A G 9: 102,503,126 (GRCm39) probably benign Het
Chrna5 G T 9: 54,912,417 (GRCm39) V302L probably benign Het
Crtc2 A G 3: 90,168,378 (GRCm39) T374A probably damaging Het
Dmtf1 T G 5: 9,187,149 (GRCm39) D140A probably damaging Het
Exosc8 C T 3: 54,641,120 (GRCm39) V39M probably damaging Het
Fam135b A C 15: 71,335,164 (GRCm39) S677A probably damaging Het
Hif1an T C 19: 44,551,828 (GRCm39) Y93H probably damaging Het
Hrc T C 7: 44,985,088 (GRCm39) F80L probably benign Het
Jmjd1c A G 10: 67,025,599 (GRCm39) T139A possibly damaging Het
Kdr T G 5: 76,129,111 (GRCm39) R178S probably benign Het
Lrrc61 A C 6: 48,545,366 (GRCm39) N63T probably damaging Het
Mrc1 C T 2: 14,330,048 (GRCm39) A1219V possibly damaging Het
Neto1 T C 18: 86,516,760 (GRCm39) V359A probably benign Het
Ngly1 T C 14: 16,281,836 (GRCm38) I364T probably benign Het
Nisch C T 14: 30,907,301 (GRCm39) probably benign Het
Or2y8 C A 11: 52,036,179 (GRCm39) M59I probably benign Het
Prrc2a T C 17: 35,374,651 (GRCm39) D1333G probably damaging Het
Raly G T 2: 154,703,830 (GRCm39) V134F probably damaging Het
Rbm6 T C 9: 107,729,430 (GRCm39) Y406C probably damaging Het
Robo4 G C 9: 37,313,363 (GRCm39) E6Q possibly damaging Het
Scnn1g C A 7: 121,359,667 (GRCm39) S383R probably benign Het
Sgtb T C 13: 104,247,659 (GRCm39) W13R probably benign Het
Slit3 T C 11: 35,435,633 (GRCm39) probably null Het
Tbc1d32 G A 10: 56,027,907 (GRCm39) Q732* probably null Het
Tek T A 4: 94,693,181 (GRCm39) C247S probably damaging Het
Tmf1 A T 6: 97,153,799 (GRCm39) D91E probably damaging Het
Usp39 A G 6: 72,310,140 (GRCm39) L326P probably damaging Het
Vmn2r7 A T 3: 64,598,248 (GRCm39) C770S probably damaging Het
Zfyve26 A G 12: 79,313,223 (GRCm39) I54T probably damaging Het
Other mutations in Wdr31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Wdr31 APN 4 62,375,757 (GRCm39) missense probably damaging 1.00
IGL01315:Wdr31 APN 4 62,374,074 (GRCm39) missense probably damaging 1.00
IGL02345:Wdr31 APN 4 62,377,083 (GRCm39) missense possibly damaging 0.89
IGL03192:Wdr31 APN 4 62,372,149 (GRCm39) missense possibly damaging 0.73
R0045:Wdr31 UTSW 4 62,382,270 (GRCm39) missense possibly damaging 0.81
R0257:Wdr31 UTSW 4 62,378,755 (GRCm39) critical splice donor site probably null
R0486:Wdr31 UTSW 4 62,372,130 (GRCm39) missense probably damaging 1.00
R1983:Wdr31 UTSW 4 62,378,840 (GRCm39) missense probably damaging 1.00
R2081:Wdr31 UTSW 4 62,374,180 (GRCm39) missense probably benign 0.00
R3620:Wdr31 UTSW 4 62,375,701 (GRCm39) missense possibly damaging 0.95
R4256:Wdr31 UTSW 4 62,375,675 (GRCm39) critical splice donor site probably null
R4303:Wdr31 UTSW 4 62,378,626 (GRCm39) missense probably damaging 1.00
R4562:Wdr31 UTSW 4 62,372,159 (GRCm39) missense probably damaging 1.00
R5747:Wdr31 UTSW 4 62,381,637 (GRCm39) missense probably damaging 0.98
R5986:Wdr31 UTSW 4 62,374,113 (GRCm39) missense probably benign 0.02
R6170:Wdr31 UTSW 4 62,381,661 (GRCm39) missense probably damaging 1.00
R7126:Wdr31 UTSW 4 62,381,666 (GRCm39) missense probably benign 0.00
R7469:Wdr31 UTSW 4 62,375,768 (GRCm39) missense probably damaging 0.99
R7653:Wdr31 UTSW 4 62,381,666 (GRCm39) missense probably benign 0.00
R7727:Wdr31 UTSW 4 62,378,873 (GRCm39) missense probably damaging 0.99
R8255:Wdr31 UTSW 4 62,381,634 (GRCm39) missense probably benign 0.00
R8704:Wdr31 UTSW 4 62,380,442 (GRCm39) missense probably benign
R9798:Wdr31 UTSW 4 62,381,651 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CATTTGAAGCAGGCCAGTG -3'
(R):5'- TCAAGCTGGCACTGGTTTGG -3'

Sequencing Primer
(F):5'- AGATCCTGTCTGTGCAGCCTG -3'
(R):5'- GGTTCCTTCCTGTCAGCTTTAGAG -3'
Posted On 2018-10-18