Incidental Mutation 'IGL02146:Wdtc1'
ID281747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdtc1
Ensembl Gene ENSMUSG00000037622
Gene NameWD and tetratricopeptide repeats 1
Synonymsadipose, LOC230796, adp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02146
Quality Score
Status
Chromosome4
Chromosomal Location133292459-133353481 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 133301765 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 337 (L337F)
Ref Sequence ENSEMBL: ENSMUSP00000101526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043305] [ENSMUST00000105906]
Predicted Effect probably benign
Transcript: ENSMUST00000043305
AA Change: L337F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: L337F

DomainStartEndE-ValueType
WD40 36 75 4.58e-8 SMART
WD40 79 120 1.24e-4 SMART
WD40 123 163 2.58e-1 SMART
WD40 170 213 4.42e1 SMART
Pfam:TPR_11 362 429 1.1e-15 PFAM
Pfam:TPR_2 432 457 1.1e-3 PFAM
low complexity region 488 499 N/A INTRINSIC
WD40 523 566 7.16e-1 SMART
WD40 569 608 1.55e-5 SMART
low complexity region 655 670 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105906
AA Change: L337F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101526
Gene: ENSMUSG00000037622
AA Change: L337F

DomainStartEndE-ValueType
WD40 36 75 4.58e-8 SMART
WD40 79 120 1.24e-4 SMART
WD40 123 163 2.58e-1 SMART
WD40 170 213 4.42e1 SMART
Blast:WD40 261 296 5e-12 BLAST
Pfam:TPR_11 361 429 2.9e-16 PFAM
Pfam:TPR_2 432 457 1.4e-3 PFAM
low complexity region 488 499 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice heterozygous for a gene trapped allele are obese and insulin resistant with significantly elevated plasma insulin and leptin levels. Although a number of adult homozygotes are also described as obese, the majority of homozygotes die in utero thus precluding statistically significant analyses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,256,740 C784R possibly damaging Het
Akp3 A T 1: 87,126,575 D278V probably benign Het
Atxn7l1 G T 12: 33,368,031 R730S probably benign Het
Bag6 A G 17: 35,136,215 T30A probably damaging Het
Blk G T 14: 63,374,199 P429H probably damaging Het
Bmp2k T A 5: 97,064,830 M524K unknown Het
Bst1 T A 5: 43,826,336 H221Q probably damaging Het
Ces2g T C 8: 104,966,944 I419T possibly damaging Het
Cnep1r1 T C 8: 88,129,698 V34A probably benign Het
Ctnnbl1 A G 2: 157,819,494 E308G probably damaging Het
Cyp20a1 A T 1: 60,371,251 K237I possibly damaging Het
Dlg5 T C 14: 24,202,361 T104A probably damaging Het
Dnah9 C T 11: 65,927,700 V3271M probably damaging Het
Eed T A 7: 89,969,595 N204Y possibly damaging Het
Fat3 A G 9: 15,999,582 V1708A probably benign Het
Fcrl6 T C 1: 172,598,697 T178A probably benign Het
Galnt4 A C 10: 99,109,701 K429N possibly damaging Het
Ints6 T A 14: 62,759,260 T94S possibly damaging Het
Iqsec3 A T 6: 121,383,957 S981T probably damaging Het
Itga9 T A 9: 118,834,332 S146T possibly damaging Het
Itpr3 A G 17: 27,117,275 Y2325C probably damaging Het
Kng2 T A 16: 22,987,832 Q539L probably damaging Het
Lmtk3 T A 7: 45,794,947 probably benign Het
Lrrc6 C T 15: 66,489,525 W42* probably null Het
Lrrc6 C A 15: 66,489,526 W42L probably benign Het
Map1a T C 2: 121,299,446 Y248H probably damaging Het
Mroh1 A G 15: 76,434,679 probably benign Het
Mroh2b T C 15: 4,951,294 probably null Het
Myo18b A T 5: 112,843,285 M942K probably damaging Het
Myzap T A 9: 71,564,448 T94S probably benign Het
Nebl C A 2: 17,348,868 R957S probably damaging Het
Nexn A T 3: 152,247,248 D278E probably benign Het
Nlgn1 A T 3: 25,912,682 N222K probably damaging Het
Olfr26 G A 9: 38,855,358 A99T probably benign Het
Olfr809 T A 10: 129,776,858 probably benign Het
Osbpl6 A T 2: 76,549,750 R79S possibly damaging Het
Phip T C 9: 82,881,718 I1268M probably benign Het
Pkd2 G T 5: 104,489,291 R590L probably damaging Het
Reg2 G A 6: 78,405,585 probably benign Het
Scaf1 A T 7: 45,013,510 D26E probably damaging Het
Ska1 A G 18: 74,196,910 I253T possibly damaging Het
Slc11a2 T C 15: 100,401,288 N443D probably damaging Het
Slc6a12 A T 6: 121,353,501 T155S probably benign Het
Slit3 A G 11: 35,234,848 K118R possibly damaging Het
Snap23 T G 2: 120,599,311 N212K probably damaging Het
Snx13 T A 12: 35,101,079 D346E probably benign Het
Sumf1 C A 6: 108,173,431 probably null Het
Susd2 T C 10: 75,638,433 N479S possibly damaging Het
Tiam1 A G 16: 89,849,681 I821T probably benign Het
Tll2 C A 19: 41,097,837 V651L probably benign Het
Vmn2r1 A G 3: 64,104,683 D655G probably benign Het
Vmn2r72 T C 7: 85,737,962 Y798C probably damaging Het
Vps13b A C 15: 35,646,333 I1528L probably benign Het
Zfp128 A C 7: 12,890,032 K109T possibly damaging Het
Other mutations in Wdtc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Wdtc1 APN 4 133295232 missense probably damaging 1.00
IGL02005:Wdtc1 APN 4 133308914 missense probably benign 0.14
IGL02078:Wdtc1 APN 4 133305960 missense probably damaging 1.00
IGL02724:Wdtc1 APN 4 133297478 missense possibly damaging 0.78
IGL03196:Wdtc1 APN 4 133295337 missense probably damaging 1.00
pear UTSW 4 133294391 splice site probably null
R0448:Wdtc1 UTSW 4 133297500 missense probably damaging 1.00
R0501:Wdtc1 UTSW 4 133308840 missense possibly damaging 0.88
R0743:Wdtc1 UTSW 4 133300661 missense probably damaging 0.99
R1170:Wdtc1 UTSW 4 133297546 missense probably damaging 0.99
R1439:Wdtc1 UTSW 4 133301807 missense probably benign
R1456:Wdtc1 UTSW 4 133297428 missense possibly damaging 0.83
R1833:Wdtc1 UTSW 4 133308742 splice site probably benign
R4506:Wdtc1 UTSW 4 133308819 missense probably damaging 1.00
R4687:Wdtc1 UTSW 4 133296431 missense probably damaging 1.00
R4739:Wdtc1 UTSW 4 133301799 missense possibly damaging 0.68
R4967:Wdtc1 UTSW 4 133294343 missense probably damaging 0.99
R5032:Wdtc1 UTSW 4 133308851 missense possibly damaging 0.89
R5193:Wdtc1 UTSW 4 133294367 nonsense probably null
R5448:Wdtc1 UTSW 4 133294297 missense probably benign
R5593:Wdtc1 UTSW 4 133294391 splice site probably null
R5890:Wdtc1 UTSW 4 133294362 missense unknown
R7536:Wdtc1 UTSW 4 133295250 missense not run
Posted On2015-04-16