Incidental Mutation 'R9798:Wdr31'
ID 735042
Institutional Source Beutler Lab
Gene Symbol Wdr31
Ensembl Gene ENSMUSG00000028391
Gene Name WD repeat domain 31
Synonyms 5430402I10Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R9798 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 62366890-62389133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62381651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 60 (V60A)
Ref Sequence ENSEMBL: ENSMUSP00000030087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030087] [ENSMUST00000107452] [ENSMUST00000120095] [ENSMUST00000132263] [ENSMUST00000135811] [ENSMUST00000155522]
AlphaFold Q9JHB4
Predicted Effect probably benign
Transcript: ENSMUST00000030087
AA Change: V60A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391
AA Change: V60A

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: V59A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391
AA Change: V59A

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: V60A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391
AA Change: V60A

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 probably benign
Transcript: ENSMUST00000135811
Predicted Effect probably benign
Transcript: ENSMUST00000155522
AA Change: V60A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123624
Gene: ENSMUSG00000028391
AA Change: V60A

DomainStartEndE-ValueType
Blast:WD40 51 83 3e-16 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.3%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,000,934 (GRCm39) S201T possibly damaging Het
Adamtsl1 A G 4: 86,074,927 (GRCm39) D98G probably damaging Het
Ahnak A G 19: 8,990,983 (GRCm39) D4089G probably damaging Het
Alpk3 T A 7: 80,742,400 (GRCm39) M739K probably benign Het
Asns T C 6: 7,689,395 (GRCm39) N36D possibly damaging Het
Bbs7 A T 3: 36,652,439 (GRCm39) M338K probably benign Het
Bbx T C 16: 50,045,121 (GRCm39) D480G probably damaging Het
Cc2d2b G A 19: 40,783,080 (GRCm39) V626I unknown Het
Celsr3 A T 9: 108,705,794 (GRCm39) D759V probably damaging Het
Entpd1 G A 19: 40,715,789 (GRCm39) V319M possibly damaging Het
Espnl G T 1: 91,251,286 (GRCm39) G127V probably damaging Het
Fgfr1 C T 8: 26,053,523 (GRCm39) T266I unknown Het
Fktn C T 4: 53,747,128 (GRCm39) H344Y probably damaging Het
Fryl T C 5: 73,192,402 (GRCm39) M2678V probably benign Het
Fsip2 T A 2: 82,810,225 (GRCm39) Y2181* probably null Het
Gm21698 A T 5: 26,189,184 (GRCm39) D256E probably damaging Het
Hipk1 C T 3: 103,651,431 (GRCm39) V1156I possibly damaging Het
Igsf10 T A 3: 59,239,126 (GRCm39) I352F probably damaging Het
Igsf5 C A 16: 96,174,075 (GRCm39) T35K probably damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Kctd11 T G 11: 69,770,732 (GRCm39) H102P probably damaging Het
Msln T C 17: 25,972,771 (GRCm39) T37A probably benign Het
Or7g29 T A 9: 19,286,577 (GRCm39) Y200F probably benign Het
Or8u10 T C 2: 85,915,606 (GRCm39) N172D probably damaging Het
Phtf1 T C 3: 103,904,869 (GRCm39) S506P probably benign Het
Pias3 T C 3: 96,606,881 (GRCm39) I57T probably damaging Het
Psmc2 A G 5: 22,000,806 (GRCm39) I94V probably benign Het
Ripor1 T C 8: 106,342,798 (GRCm39) Y224H possibly damaging Het
Rrh C T 3: 129,605,421 (GRCm39) V229M probably damaging Het
Scaf4 G A 16: 90,045,533 (GRCm39) R526C unknown Het
Slc1a6 G A 10: 78,629,167 (GRCm39) probably null Het
Slc4a7 A G 14: 14,782,056 (GRCm38) D937G probably damaging Het
Slco1b2 C A 6: 141,601,079 (GRCm39) T134K probably damaging Het
Sptbn4 T C 7: 27,056,717 (GRCm39) *2562W probably null Het
Ston1 T C 17: 88,944,472 (GRCm39) V626A probably damaging Het
Synpo A T 18: 60,736,832 (GRCm39) D371E possibly damaging Het
Tex15 T A 8: 34,062,721 (GRCm39) V717D probably damaging Het
Tmod3 A C 9: 75,436,805 (GRCm39) N43K probably damaging Het
Tmod3 G T 9: 75,436,801 (GRCm39) L45I possibly damaging Het
Tmod3 G C 9: 75,436,803 (GRCm39) A44G probably damaging Het
Top2b T C 14: 16,389,845 (GRCm38) F228L probably damaging Het
Trappc14 A G 5: 138,259,940 (GRCm39) M372T possibly damaging Het
Ush2a A G 1: 188,644,002 (GRCm39) T4455A possibly damaging Het
Vmn1r178 C A 7: 23,593,733 (GRCm39) Y260* probably null Het
Vps13c T A 9: 67,826,646 (GRCm39) I1429N 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
R6887:Wdr31 UTSW 4 62,375,802 (GRCm39) missense probably benign 0.03
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
Predicted Primers PCR Primer
(F):5'- AAAAGCATGTAGGTGGCCTG -3'
(R):5'- GAGGGTCTCTTTCGTGTCTCAC -3'

Sequencing Primer
(F):5'- GAGGTCCTCATGGAATCCTCATG -3'
(R):5'- ACCCTTGCCTGAATTGATATCACTG -3'
Posted On 2022-11-14