Incidental Mutation 'R6603:Wdr12'
ID 525404
Institutional Source Beutler Lab
Gene Symbol Wdr12
Ensembl Gene ENSMUSG00000026019
Gene Name WD repeat domain 12
Synonyms Ytm1p, 4933402C23Rik, Ytm1
MMRRC Submission 044726-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6603 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 60110520-60137659 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60121783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 256 (H256L)
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: H256L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027173
Gene: ENSMUSG00000026019
AA Change: H256L

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: H256L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113494
Gene: ENSMUSG00000026019
AA Change: H256L

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: H256L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113148
Gene: ENSMUSG00000026019
AA Change: H256L

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A T 8: 25,155,518 (GRCm39) F167Y possibly damaging Het
Ap3d1 A G 10: 80,549,881 (GRCm39) S755P probably benign Het
Aph1a A T 3: 95,802,808 (GRCm39) N136I probably damaging Het
AU040320 T A 4: 126,686,046 (GRCm39) N207K probably benign Het
Caprin1 A T 2: 103,605,856 (GRCm39) D377E probably benign Het
Col18a1 A G 10: 76,899,811 (GRCm39) probably null Het
Ddi2 T C 4: 141,411,181 (GRCm39) N577S probably damaging Het
Dip2c T A 13: 9,704,624 (GRCm39) probably null Het
Dmbt1 A T 7: 130,648,240 (GRCm39) probably null Het
Fam13a T C 6: 58,964,174 (GRCm39) K86R probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fbxl8 A T 8: 105,994,842 (GRCm39) D118V probably damaging Het
Garin5b G A 7: 4,761,431 (GRCm39) P427L possibly damaging Het
Git2 C A 5: 114,869,052 (GRCm39) probably null Het
Gm17190 T G 13: 96,218,770 (GRCm39) D35E possibly damaging Het
Gnb4 C T 3: 32,639,295 (GRCm39) D333N probably damaging Het
Has2 T A 15: 56,531,968 (GRCm39) D249V probably damaging Het
Ighv1-23 A G 12: 114,728,141 (GRCm39) S94P probably damaging Het
Itpr2 A G 6: 146,248,669 (GRCm39) I1029T probably damaging Het
Kctd16 T C 18: 40,391,544 (GRCm39) I44T probably benign Het
Kpna1 A G 16: 35,849,890 (GRCm39) probably null Het
Lonrf1 T A 8: 36,690,095 (GRCm39) R654S probably damaging Het
Lrrc49 A C 9: 60,501,052 (GRCm39) probably null Het
Miip T G 4: 147,950,380 (GRCm39) K72T possibly damaging Het
Mink1 C T 11: 70,500,419 (GRCm39) P782S probably damaging Het
Mpped2 A G 2: 106,697,322 (GRCm39) T266A probably benign Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Naip1 C T 13: 100,559,666 (GRCm39) G1113S probably benign Het
Nbr1 A G 11: 101,446,931 (GRCm39) probably benign Het
Necab3 A T 2: 154,396,842 (GRCm39) N46K probably damaging Het
Or51a8 A T 7: 102,549,621 (GRCm39) I16F probably benign Het
Phtf1 C T 3: 103,901,189 (GRCm39) R360C probably damaging Het
Plcl2 A G 17: 50,914,145 (GRCm39) I385V probably benign Het
Prmt8 A T 6: 127,706,376 (GRCm39) F138L probably benign Het
Prpf40a T G 2: 53,042,975 (GRCm39) R436S probably damaging Het
Rab27b T A 18: 70,118,375 (GRCm39) I181F probably damaging Het
Rasgrf1 A G 9: 89,792,310 (GRCm39) E87G probably damaging Het
Scrib T A 15: 75,934,572 (GRCm39) T674S probably benign Het
Slc9a4 A G 1: 40,662,664 (GRCm39) S644G probably benign Het
Slc9a9 G A 9: 94,821,599 (GRCm39) A329T probably damaging Het
Smc4 T C 3: 68,929,794 (GRCm39) probably null Het
Sox7 T A 14: 64,185,637 (GRCm39) H224Q probably benign Het
Spata31 T C 13: 65,070,479 (GRCm39) S876P probably damaging Het
Syndig1 G A 2: 149,845,208 (GRCm39) V244M probably damaging Het
Tas2r113 A T 6: 132,870,421 (GRCm39) I150L probably benign Het
Tasor A G 14: 27,168,343 (GRCm39) Y295C probably damaging Het
Tmem59l G A 8: 70,939,006 (GRCm39) P56L probably benign Het
Tnfrsf8 A T 4: 145,019,168 (GRCm39) D222E possibly damaging Het
Trim52 T C 14: 106,344,483 (GRCm39) L47P probably damaging Het
Ttc34 T A 4: 154,923,762 (GRCm39) I157K probably benign Het
Txndc16 A G 14: 45,389,224 (GRCm39) F492S probably damaging Het
Ubr4 A G 4: 139,182,897 (GRCm39) I428V probably benign Het
Vmn2r41 T A 7: 8,141,359 (GRCm39) I702F probably damaging Het
Xirp2 A G 2: 67,346,888 (GRCm39) H3043R probably benign Het
Xrcc1 C T 7: 24,270,459 (GRCm39) Q500* probably null Het
Zfp583 T C 7: 6,328,475 (GRCm39) N38S probably damaging 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
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
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'- CAGTGGGCTAAAAGTACCCAAC -3'
(R):5'- TGTACTTTGGACATTACCGTCTAC -3'

Sequencing Primer
(F):5'- GAGTTGACTTAAGACCGC -3'
(R):5'- CAGGATGTCACTATGTAGCCTTGAC -3'
Posted On 2018-06-22