Incidental Mutation 'IGL02078:Wdtc1'
ID283367
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 #IGL02078
Quality Score
Status
Chromosome4
Chromosomal Location133292459-133353481 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 133305960 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 176 (D176Y)
Ref Sequence ENSEMBL: ENSMUSP00000040647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043305] [ENSMUST00000105906]
Predicted Effect probably damaging
Transcript: ENSMUST00000043305
AA Change: D176Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: D176Y

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 damaging
Transcript: ENSMUST00000105906
AA Change: D176Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101526
Gene: ENSMUSG00000037622
AA Change: D176Y

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135929
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,972,685 K673Q possibly damaging Het
4933412E24Rik T C 15: 60,016,330 D87G probably benign Het
Acap1 C T 11: 69,895,286 R18Q probably damaging Het
Atp1a1 A C 3: 101,591,863 V140G probably damaging Het
Bmpr1b G A 3: 141,870,737 P112S possibly damaging Het
Chst8 T A 7: 34,675,334 N360I possibly damaging Het
Cldn23 A T 8: 35,826,205 V43E possibly damaging Het
Clta T C 4: 44,030,232 F168S probably damaging Het
Cyp2c40 T C 19: 39,767,482 I463V probably benign Het
E2f2 A G 4: 136,193,012 D436G probably damaging Het
Fbxo24 T G 5: 137,624,349 T52P probably damaging Het
Gria4 G A 9: 4,793,878 A60V probably damaging Het
Grm1 C T 10: 10,689,610 V985M probably benign Het
Hexa A G 9: 59,557,303 T159A probably benign Het
Inf2 T A 12: 112,601,614 V200E probably damaging Het
Kif20b T A 19: 34,935,644 V319E probably damaging Het
Klhl10 A G 11: 100,445,751 D188G probably benign Het
Mobp G A 9: 120,167,914 R37H probably damaging Het
Mybpc2 T A 7: 44,503,780 D1086V probably damaging Het
Nadk A C 4: 155,579,403 probably benign Het
Olfr853 T A 9: 19,537,453 H159L probably benign Het
Per1 A G 11: 69,104,299 E619G probably damaging Het
Rab3gap1 G A 1: 127,868,915 probably benign Het
Rimkla A G 4: 119,468,147 L355P probably damaging Het
Rnf139 A G 15: 58,900,031 D635G possibly damaging Het
Sall1 T A 8: 89,030,375 N1034Y probably damaging Het
Serpinb13 A T 1: 106,998,958 Q228L probably damaging Het
Sin3b G T 8: 72,753,580 M903I possibly damaging Het
Slco1a5 A T 6: 142,254,446 M204K probably benign Het
Smo A G 6: 29,754,708 D259G possibly damaging Het
Sult2a4 T C 7: 13,989,544 I15M probably benign Het
Ttn T A 2: 76,942,441 probably null 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
IGL02146:Wdtc1 APN 4 133301765 missense probably benign 0.00
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 probably damaging 1.00
Posted On2015-04-16