Incidental Mutation 'IGL01613:Wdr12'
ID92240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr12
Ensembl Gene ENSMUSG00000026019
Gene NameWD repeat domain 12
SynonymsYtm1p, 4933402C23Rik, Ytm1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01613
Quality Score
Status
Chromosome1
Chromosomal Location60069785-60098645 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60080559 bp
ZygosityHeterozygous
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]
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: 125,512,652 M446R possibly damaging Het
Abca16 A G 7: 120,541,277 N1599S probably benign Het
Ankib1 G A 5: 3,713,146 Q528* probably null Het
Ano10 A T 9: 122,259,540 L347M possibly damaging Het
Bag6 T C 17: 35,143,016 probably benign Het
Bpnt1 T C 1: 185,353,994 V182A possibly damaging Het
Capn13 G T 17: 73,331,058 T450N probably benign Het
Cbr3 A T 16: 93,683,443 E40V probably benign Het
Cdk10 T C 8: 123,228,387 I159T probably damaging Het
Cela3b T C 4: 137,425,071 D65G possibly damaging Het
Csf2rb T G 15: 78,335,302 probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dpp9 T C 17: 56,190,713 H687R probably benign Het
Elovl1 T C 4: 118,431,270 V108A probably benign Het
Emb T A 13: 117,272,078 N318K probably damaging Het
Ermp1 A G 19: 29,639,939 L36P probably damaging Het
Esco2 T G 14: 65,826,595 H380P possibly damaging Het
Gm5724 G T 6: 141,713,214 T552K possibly damaging Het
Gm9747 G A 1: 82,234,088 probably benign Het
Golga1 A G 2: 39,020,126 M603T probably benign Het
Hsph1 A G 5: 149,627,278 V411A probably benign Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Ints11 T C 4: 155,885,198 probably null Het
Jakmip1 G T 5: 37,100,768 A253S probably damaging Het
Met A G 6: 17,540,577 Y834C probably damaging Het
Mgl2 A G 11: 70,134,158 T2A probably benign Het
Myh2 G T 11: 67,197,344 V1929L probably benign Het
Myh8 T C 11: 67,301,710 S1472P probably benign Het
Myo1e T C 9: 70,341,273 probably benign Het
Ndufaf7 A G 17: 78,937,502 I17V probably benign Het
Olfr1046 T G 2: 86,217,161 D183A probably damaging Het
Olfr1256 T C 2: 89,835,808 T46A probably damaging Het
Olfr193 A T 16: 59,109,921 S230T probably damaging Het
Olfr804 A G 10: 129,705,623 I248M probably benign Het
Olfr830 T A 9: 18,875,321 probably benign Het
Olfr914 A G 9: 38,606,554 I30V probably null Het
Olfr992 C T 2: 85,400,171 D121N probably damaging Het
Ppef2 T C 5: 92,235,820 E477G probably benign Het
Scmh1 T A 4: 120,529,900 probably benign Het
Scn1a C A 2: 66,285,937 D1473Y probably damaging Het
Sdr42e1 C T 8: 117,662,937 V322I probably benign Het
Spta1 G A 1: 174,208,394 A1089T probably damaging Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 F108L possibly damaging Het
Ttn T C 2: 76,974,964 N177S probably benign Het
Tyk2 T C 9: 21,120,576 D401G probably damaging Het
Vav1 T C 17: 57,307,067 F650L possibly damaging Het
Xab2 T C 8: 3,610,880 M745V probably benign Het
Other mutations in Wdr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0313:Wdr12 UTSW 1 60082579 missense possibly damaging 0.92
R0684:Wdr12 UTSW 1 60089366 splice site probably benign
R1157:Wdr12 UTSW 1 60078230 missense probably damaging 1.00
R1411:Wdr12 UTSW 1 60088072 missense probably benign 0.01
R1539:Wdr12 UTSW 1 60083848 splice site probably null
R2075:Wdr12 UTSW 1 60091063 missense possibly damaging 0.77
R3113:Wdr12 UTSW 1 60087062 missense probably benign 0.01
R4533:Wdr12 UTSW 1 60078195 missense probably benign 0.05
R5153:Wdr12 UTSW 1 60094511 missense probably benign 0.08
R5196:Wdr12 UTSW 1 60087084 missense probably damaging 1.00
R6603:Wdr12 UTSW 1 60082624 missense probably damaging 1.00
R7310:Wdr12 UTSW 1 60082575 nonsense probably null
R7466:Wdr12 UTSW 1 60094511 missense probably benign 0.08
R7621:Wdr12 UTSW 1 60097589 start gained probably benign
R7805:Wdr12 UTSW 1 60097594 start gained probably benign
R7846:Wdr12 UTSW 1 60082066 missense probably damaging 1.00
R8008:Wdr12 UTSW 1 60089335 nonsense probably null
Z1176:Wdr12 UTSW 1 60082564 missense possibly damaging 0.92
Posted On2013-12-09