Incidental Mutation 'R6170:Wdr31'
ID 490368
Institutional Source Beutler Lab
Gene Symbol Wdr31
Ensembl Gene ENSMUSG00000028391
Gene Name WD repeat domain 31
Synonyms 5430402I10Rik
MMRRC Submission 044431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6170 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 62366890-62389133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62381661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 57 (Y57H)
Ref Sequence ENSEMBL: ENSMUSP00000123624 (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: Y57H

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391
AA Change: Y57H

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: ENSMUST00000107452
AA Change: Y56H

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391
AA Change: Y56H

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: Y57H

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391
AA Change: Y57H

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 noncoding transcript
Transcript: ENSMUST00000146108
Predicted Effect probably damaging
Transcript: ENSMUST00000155522
AA Change: Y57H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123624
Gene: ENSMUSG00000028391
AA Change: Y57H

DomainStartEndE-ValueType
Blast:WD40 51 83 3e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153615
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (68/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,555 (GRCm39) S90R probably benign Het
4930523C07Rik C A 1: 159,902,743 (GRCm39) N4K possibly damaging Het
Adgrl2 A G 3: 148,528,645 (GRCm39) S1167P probably damaging Het
Akr1e1 T C 13: 4,652,723 (GRCm39) D94G possibly damaging Het
Anln T C 9: 22,279,793 (GRCm39) N466D probably benign Het
Atp9b T A 18: 80,920,562 (GRCm39) I231L probably benign Het
Bpifb3 T A 2: 153,761,557 (GRCm39) M2K unknown Het
Btbd3 T C 2: 138,120,862 (GRCm39) L12P probably damaging Het
Btnl6 T A 17: 34,734,480 (GRCm39) Y94F probably damaging Het
Cab39 T A 1: 85,746,176 (GRCm39) L19* probably null Het
Cacna2d2 A G 9: 107,404,533 (GRCm39) D1114G probably damaging Het
Cdcp3 A T 7: 130,776,216 (GRCm39) probably null Het
Cdh11 A G 8: 103,361,442 (GRCm39) V632A probably benign Het
Cemip T G 7: 83,596,438 (GRCm39) T1109P possibly damaging Het
Col7a1 C A 9: 108,795,511 (GRCm39) P1522Q unknown Het
Colgalt1 C T 8: 72,074,514 (GRCm39) L409F probably damaging Het
Crtc2 A G 3: 90,166,907 (GRCm39) M125V probably benign Het
Cyp2b19 T G 7: 26,458,519 (GRCm39) M78R possibly damaging Het
Cyp4a12a A C 4: 115,184,643 (GRCm39) D308A possibly damaging Het
D16Ertd472e T C 16: 78,342,155 (GRCm39) T242A probably benign Het
Ddah1 A G 3: 145,597,261 (GRCm39) D166G probably benign Het
Dmtn T C 14: 70,854,795 (GRCm39) D60G probably damaging Het
Dsg1a A T 18: 20,469,043 (GRCm39) D607V probably damaging Het
Ebf1 T A 11: 44,774,712 (GRCm39) N236K probably damaging Het
Emc1 A G 4: 139,093,689 (GRCm39) T600A probably benign Het
Fbxo33 T C 12: 59,251,435 (GRCm39) N360S probably benign Het
Fbxw5 A G 2: 25,393,615 (GRCm39) D72G possibly damaging Het
Fhad1 T A 4: 141,618,263 (GRCm39) K1388* probably null Het
Fzd7 A G 1: 59,523,004 (GRCm39) M296V probably benign Het
Gdpd3 T C 7: 126,370,336 (GRCm39) I257T probably benign Het
Glt28d2 T G 3: 85,779,248 (GRCm39) D75A possibly damaging Het
Gm14295 G A 2: 176,502,937 (GRCm39) probably benign Het
Gm28729 A G 9: 96,401,494 (GRCm39) I98T probably damaging Het
Gm4924 C T 10: 82,213,065 (GRCm39) Q288* probably null Het
Gpr150 T C 13: 76,204,676 (GRCm39) M90V probably damaging Het
Ireb2 G A 9: 54,794,656 (GRCm39) V331I probably benign Het
Lpcat2b A T 5: 107,581,760 (GRCm39) Y363F probably benign Het
Me2 T C 18: 73,918,852 (GRCm39) I410V probably benign Het
Naxe T C 3: 87,965,537 (GRCm39) E58G probably damaging Het
Nlrp10 T A 7: 108,523,671 (GRCm39) D603V probably benign Het
Nlrp1b T A 11: 71,046,905 (GRCm39) Y1149F probably damaging Het
Nrg1 A G 8: 32,308,508 (GRCm39) Y503H probably damaging Het
Nxpe4 C T 9: 48,304,104 (GRCm39) P64S probably benign Het
Pkd1l3 A T 8: 110,349,811 (GRCm39) T219S unknown Het
Plagl1 T C 10: 13,002,975 (GRCm39) L81P probably damaging Het
Poglut3 T C 9: 53,311,042 (GRCm39) V481A possibly damaging Het
Polq A G 16: 36,866,174 (GRCm39) Q457R possibly damaging Het
Potefam1 A G 2: 111,058,293 (GRCm39) Y167H probably benign Het
Ppargc1a C A 5: 51,631,253 (GRCm39) A459S probably damaging Het
Ppp1r13l A G 7: 19,104,362 (GRCm39) D253G probably benign Het
Prl2c2 T A 13: 13,176,757 (GRCm39) N55Y probably damaging Het
Prlr T C 15: 10,328,935 (GRCm39) F470S probably benign Het
Serpina12 T C 12: 104,004,500 (GRCm39) D44G probably benign Het
Sfxn1 T G 13: 54,260,526 (GRCm39) S291R probably benign Het
Sipa1l1 A G 12: 82,388,446 (GRCm39) D224G probably benign Het
Slc30a7 A G 3: 115,784,392 (GRCm39) F123S probably damaging Het
Spata31f1a A G 4: 42,849,345 (GRCm39) V937A probably benign Het
Stox2 T A 8: 47,645,055 (GRCm39) M802L probably benign Het
Tmem150a G A 6: 72,333,728 (GRCm39) R30H probably benign Het
Tmem210 G A 2: 25,178,776 (GRCm39) probably null Het
Tor3a T C 1: 156,484,143 (GRCm39) N269S possibly damaging Het
Trp63 A C 16: 25,703,603 (GRCm39) N423T probably benign Het
Vmn2r60 A G 7: 41,785,045 (GRCm39) I86V possibly damaging Het
Vmn2r74 T C 7: 85,606,348 (GRCm39) I333V probably benign Het
Vwa7 C A 17: 35,240,186 (GRCm39) H385N possibly damaging Het
Wdr1 T C 5: 38,687,014 (GRCm39) probably null Het
Zbtb44 T A 9: 30,964,678 (GRCm39) H29Q probably damaging Het
Zfp532 T A 18: 65,757,509 (GRCm39) S481T probably damaging Het
Zfp955b G T 17: 33,521,084 (GRCm39) R184S probably benign 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
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
R9798:Wdr31 UTSW 4 62,381,651 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGTAGGTGGCCTGACAAAG -3'
(R):5'- CAAACTGAGGGTCTCTTTCGTG -3'

Sequencing Primer
(F):5'- GAGGTCCTCATGGAATCCTCATG -3'
(R):5'- GAGGGTCTCTTTCGTGTCTCAC -3'
Posted On 2017-10-10