Incidental Mutation 'IGL01613:Wdr12'
ID 92240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr12
Ensembl Gene ENSMUSG00000026019
Gene Name WD repeat domain 12
Synonyms Ytm1p, 4933402C23Rik, Ytm1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01613
Quality Score
Status
Chromosome 1
Chromosomal Location 60110520-60137659 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60119718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 385 (H385R)
Ref Sequence ENSEMBL: ENSMUSP00000113148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027173] [ENSMUST00000117438] [ENSMUST00000122038]
AlphaFold Q9JJA4
Predicted Effect probably damaging
Transcript: ENSMUST00000027173
AA Change: H385R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027173
Gene: ENSMUSG00000026019
AA Change: H385R

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 damaging
Transcript: ENSMUST00000117438
AA Change: H385R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113494
Gene: ENSMUSG00000026019
AA Change: H385R

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 damaging
Transcript: ENSMUST00000122038
AA Change: H385R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113148
Gene: ENSMUSG00000026019
AA Change: H385R

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 noncoding transcript
Transcript: ENSMUST00000147413
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. 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Ano10 A T 9: 122,088,606 (GRCm39) L347M possibly damaging Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Bpnt1 T C 1: 185,086,191 (GRCm39) V182A possibly damaging Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Cela3b T C 4: 137,152,382 (GRCm39) D65G possibly damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Elovl1 T C 4: 118,288,467 (GRCm39) V108A probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Esco2 T G 14: 66,064,044 (GRCm39) H380P possibly damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Golga1 A G 2: 38,910,138 (GRCm39) M603T probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Ndufaf7 A G 17: 79,244,931 (GRCm39) I17V probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Or8k1 T G 2: 86,047,505 (GRCm39) D183A probably damaging Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 (GRCm39) F108L possibly damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V probably benign Het
Other mutations in Wdr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1411:Wdr12 UTSW 1 60,127,231 (GRCm39) missense probably benign 0.01
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
Posted On 2013-12-09