Incidental Mutation 'R1411:Wdr12'
ID 200788
Institutional Source Beutler Lab
Gene Symbol Wdr12
Ensembl Gene ENSMUSG00000026019
Gene Name WD repeat domain 12
Synonyms Ytm1p, 4933402C23Rik, Ytm1
MMRRC Submission 039467-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1411 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 60110520-60137659 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60127231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 141 (D141E)
Ref Sequence ENSEMBL: ENSMUSP00000117391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027173] [ENSMUST00000117438] [ENSMUST00000122038] [ENSMUST00000141417] [ENSMUST00000143342]
AlphaFold Q9JJA4
Predicted Effect probably benign
Transcript: ENSMUST00000027173
AA Change: D141E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027173
Gene: ENSMUSG00000026019
AA Change: D141E

DomainStartEndE-ValueType
Pfam:NLE 3 70 1.4e-20 PFAM
low complexity region 78 87 N/A INTRINSIC
WD40 91 127 5.97e-1 SMART
WD40 129 171 5.77e-5 SMART
WD40 178 217 2.04e-5 SMART
WD40 246 284 1.41e-8 SMART
WD40 287 325 2.69e-5 SMART
WD40 331 371 4.34e-9 SMART
WD40 375 413 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117438
AA Change: D141E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113494
Gene: ENSMUSG00000026019
AA Change: D141E

DomainStartEndE-ValueType
Pfam:NLE 4 70 2e-19 PFAM
low complexity region 78 87 N/A INTRINSIC
WD40 91 127 5.97e-1 SMART
WD40 129 171 5.77e-5 SMART
WD40 178 217 2.04e-5 SMART
WD40 246 284 1.41e-8 SMART
WD40 287 325 2.69e-5 SMART
WD40 331 371 4.34e-9 SMART
WD40 375 413 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122038
AA Change: D141E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113148
Gene: ENSMUSG00000026019
AA Change: D141E

DomainStartEndE-ValueType
Pfam:NLE 3 70 1.4e-20 PFAM
low complexity region 78 87 N/A INTRINSIC
WD40 91 127 5.97e-1 SMART
WD40 129 171 5.77e-5 SMART
WD40 178 217 2.04e-5 SMART
WD40 246 284 1.41e-8 SMART
WD40 287 325 2.69e-5 SMART
WD40 331 371 4.34e-9 SMART
WD40 375 413 3e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136461
Predicted Effect probably benign
Transcript: ENSMUST00000141417
AA Change: D141E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117747
Gene: ENSMUSG00000026019
AA Change: D141E

DomainStartEndE-ValueType
Pfam:NLE 3 70 3.2e-22 PFAM
low complexity region 78 87 N/A INTRINSIC
WD40 91 127 5.97e-1 SMART
Blast:WD40 129 151 4e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000143342
AA Change: D141E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117391
Gene: ENSMUSG00000026019
AA Change: D141E

DomainStartEndE-ValueType
Pfam:NLE 3 70 3.2e-22 PFAM
low complexity region 78 87 N/A INTRINSIC
WD40 91 127 5.97e-1 SMART
Blast:WD40 129 151 4e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147413
Meta Mutation Damage Score 0.0593 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (46/46)
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. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,374 (GRCm39) I85F probably damaging Het
Acp4 A G 7: 43,906,267 (GRCm39) probably benign Het
Baz1b T C 5: 135,259,177 (GRCm39) F1080L possibly damaging Het
Cbx5 A T 15: 103,121,547 (GRCm39) M30K probably benign Het
Cdc73 A G 1: 143,485,252 (GRCm39) probably benign Het
Cdcp1 A T 9: 123,019,177 (GRCm39) L34Q probably damaging Het
Chd8 C T 14: 52,462,103 (GRCm39) V738I probably benign Het
Cpeb2 T G 5: 43,391,113 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,627,035 (GRCm39) D265V probably damaging Het
Cyp2j11 A G 4: 96,233,453 (GRCm39) I81T probably benign Het
Dbx2 T C 15: 95,530,262 (GRCm39) E235G probably damaging Het
Dgkq C A 5: 108,798,228 (GRCm39) V677F probably damaging Het
Ercc5 A G 1: 44,217,441 (GRCm39) N928S probably damaging Het
Flt1 C T 5: 147,517,126 (GRCm39) V1054M probably damaging Het
Flywch1 T C 17: 23,974,798 (GRCm39) D614G probably damaging Het
Frmd3 T C 4: 74,071,858 (GRCm39) F247L probably damaging Het
Gm1527 A G 3: 28,968,632 (GRCm39) N228S probably benign Het
Gpld1 T A 13: 25,146,791 (GRCm39) L251Q probably damaging Het
Gvin-ps3 C T 7: 105,682,686 (GRCm39) A190T probably benign Het
Gzma C T 13: 113,232,742 (GRCm39) V117I probably benign Het
Hydin C A 8: 111,301,663 (GRCm39) T3798K probably benign Het
Il1rapl1 T A X: 85,790,904 (GRCm39) S679C possibly damaging Het
Lrrc8c G A 5: 105,756,045 (GRCm39) A607T probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mfsd4b4 A T 10: 39,768,136 (GRCm39) M319K probably damaging Het
Mroh2b A C 15: 4,947,799 (GRCm39) H538P probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nup188 A G 2: 30,233,807 (GRCm39) T1733A probably benign Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Ofcc1 A G 13: 40,296,263 (GRCm39) S524P probably benign Het
Or6x1 C T 9: 40,098,435 (GRCm39) T8I possibly damaging Het
Padi4 C T 4: 140,479,914 (GRCm39) S413N probably damaging Het
Pdzrn4 A G 15: 92,668,894 (GRCm39) *1015W probably null Het
Pkhd1 G A 1: 20,444,120 (GRCm39) P2314L probably damaging Het
Serpinb9c C G 13: 33,335,817 (GRCm39) V212L probably benign Het
Slc25a23 A G 17: 57,366,622 (GRCm39) F18L probably damaging Het
Smarca4 C A 9: 21,570,251 (GRCm39) N751K probably damaging Het
Tfip11 G T 5: 112,480,899 (GRCm39) V292L probably benign Het
Tnrc18 T C 5: 142,751,702 (GRCm39) K1201R unknown Het
Vmn1r199 T C 13: 22,567,671 (GRCm39) F322L probably benign Het
Vmn1r201 T C 13: 22,658,849 (GRCm39) V21A probably benign Het
Vmn2r108 A T 17: 20,683,107 (GRCm39) I699K probably damaging Het
Vmn2r117 T C 17: 23,679,527 (GRCm39) N566D probably damaging Het
Zfp974 A G 7: 27,610,634 (GRCm39) S364P probably benign Het
Other mutations in Wdr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Wdr12 APN 1 60,119,718 (GRCm39) missense probably damaging 1.00
R0313:Wdr12 UTSW 1 60,121,738 (GRCm39) missense possibly damaging 0.92
R0684:Wdr12 UTSW 1 60,128,525 (GRCm39) splice site probably benign
R1157:Wdr12 UTSW 1 60,117,389 (GRCm39) missense probably damaging 1.00
R1539:Wdr12 UTSW 1 60,123,007 (GRCm39) splice site probably null
R2075:Wdr12 UTSW 1 60,130,222 (GRCm39) missense possibly damaging 0.77
R3113:Wdr12 UTSW 1 60,126,221 (GRCm39) missense probably benign 0.01
R4533:Wdr12 UTSW 1 60,117,354 (GRCm39) missense probably benign 0.05
R5153:Wdr12 UTSW 1 60,133,670 (GRCm39) missense probably benign 0.08
R5196:Wdr12 UTSW 1 60,126,243 (GRCm39) missense probably damaging 1.00
R6603:Wdr12 UTSW 1 60,121,783 (GRCm39) missense probably damaging 1.00
R7310:Wdr12 UTSW 1 60,121,734 (GRCm39) nonsense probably null
R7466:Wdr12 UTSW 1 60,133,670 (GRCm39) missense probably benign 0.08
R7621:Wdr12 UTSW 1 60,136,748 (GRCm39) start gained probably benign
R7805:Wdr12 UTSW 1 60,136,753 (GRCm39) start gained probably benign
R7846:Wdr12 UTSW 1 60,121,225 (GRCm39) missense probably damaging 1.00
R8008:Wdr12 UTSW 1 60,128,494 (GRCm39) nonsense probably null
R8781:Wdr12 UTSW 1 60,126,300 (GRCm39) missense probably damaging 1.00
R8932:Wdr12 UTSW 1 60,130,202 (GRCm39) missense probably benign
R9202:Wdr12 UTSW 1 60,121,205 (GRCm39) missense possibly damaging 0.90
R9317:Wdr12 UTSW 1 60,128,455 (GRCm39) missense probably benign
R9606:Wdr12 UTSW 1 60,127,226 (GRCm39) missense possibly damaging 0.54
Z1176:Wdr12 UTSW 1 60,121,723 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TGACACCAGGCATGAACACTTTACAC -3'
(R):5'- CCTGCTGTCAAAGAGGTATGAATGCTAA -3'

Sequencing Primer
(F):5'- TGCAGCAAATACTCAGACACATAAAG -3'
(R):5'- actcgtgcttctgtcttcc -3'
Posted On 2014-05-23