Incidental Mutation 'R0743:Wdtc1'
ID 70765
Institutional Source Beutler Lab
Gene Symbol Wdtc1
Ensembl Gene ENSMUSG00000037622
Gene Name WD and tetratricopeptide repeats 1
Synonyms adp, adipose, LOC230796
MMRRC Submission 038924-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0743 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 133019770-133080792 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133027972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 377 (W377R)
Ref Sequence ENSEMBL: ENSMUSP00000101526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043305] [ENSMUST00000105906]
AlphaFold Q80ZK9
Predicted Effect possibly damaging
Transcript: ENSMUST00000043305
AA Change: W377R

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: W377R

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: W377R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101526
Gene: ENSMUSG00000037622
AA Change: W377R

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 92.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,700 (GRCm39) I844N possibly damaging Het
Bend7 A T 2: 4,749,055 (GRCm39) K57N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cfap91 A G 16: 38,155,996 (GRCm39) F76L probably damaging Het
Csmd2 A T 4: 128,007,469 (GRCm39) T149S probably benign Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dennd2b A G 7: 109,156,552 (GRCm39) L66P probably damaging Het
Dnase1l2 A G 17: 24,660,854 (GRCm39) V170A possibly damaging Het
Dnm2 T A 9: 21,411,561 (GRCm39) Y597N probably damaging Het
Epsti1 A T 14: 78,168,715 (GRCm39) R117S probably damaging Het
Gabarapl2 A T 8: 112,669,137 (GRCm39) I32F probably damaging Het
Glrb T A 3: 80,786,987 (GRCm39) I59F probably damaging Het
Gosr1 A G 11: 76,620,972 (GRCm39) I239T probably benign Het
Kif5b G T 18: 6,209,192 (GRCm39) R857S probably damaging Het
Kmt5a C A 5: 124,585,282 (GRCm39) N44K probably damaging Het
Ksr1 A T 11: 78,912,329 (GRCm39) H675Q possibly damaging Het
Mep1b A G 18: 21,213,515 (GRCm39) D68G possibly damaging Het
Nebl A C 2: 17,415,929 (GRCm39) S327A probably benign Het
Nfat5 G A 8: 108,094,698 (GRCm39) E962K probably damaging Het
Nfatc4 A C 14: 56,064,101 (GRCm39) D126A probably damaging Het
Nmt2 A T 2: 3,315,822 (GRCm39) R271* probably null Het
Nol7 G A 13: 43,554,091 (GRCm39) V133I probably benign Het
Npepps A G 11: 97,096,884 (GRCm39) probably benign Het
Nphp3 GCATCATCATCATCATC GCATCATCATCATC 9: 103,899,967 (GRCm39) probably benign Het
Or1e1c A T 11: 73,265,715 (GRCm39) I47F probably benign Het
Or51ag1 C T 7: 103,156,069 (GRCm39) W28* probably null Het
Or6c66 T A 10: 129,461,712 (GRCm39) T73S probably benign Het
Or8h10 G A 2: 86,808,843 (GRCm39) T99I probably benign Het
Ovgp1 T A 3: 105,882,248 (GRCm39) L37H probably damaging Het
Padi3 G T 4: 140,513,740 (GRCm39) A646D probably benign Het
Pamr1 A G 2: 102,440,252 (GRCm39) E142G probably damaging Het
Papolg A T 11: 23,820,818 (GRCm39) probably null Het
Pate8 T C 9: 36,492,597 (GRCm39) S103G probably benign Het
Pfkl C T 10: 77,831,077 (GRCm39) probably null Het
Plrg1 T C 3: 82,967,224 (GRCm39) S132P probably benign Het
Pramel23 A T 4: 143,425,134 (GRCm39) I103N probably damaging Het
Prr14l C A 5: 32,988,538 (GRCm39) C319F possibly damaging Het
Prtn3 T A 10: 79,715,511 (GRCm39) M1K probably null Het
Ptpn22 T C 3: 103,809,487 (GRCm39) F700S probably damaging Het
Ptprz1 C T 6: 23,044,366 (GRCm39) Q1273* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr2 T C 13: 11,569,415 (GRCm39) D4963G probably damaging Het
Sec16a G A 2: 26,309,734 (GRCm39) L2091F possibly damaging Het
Senp6 C T 9: 80,000,871 (GRCm39) R27C probably damaging Het
Shcbp1 T A 8: 4,814,906 (GRCm39) M191L probably benign Het
Sirt4 T C 5: 115,621,014 (GRCm39) K53E probably benign Het
Slc10a2 A G 8: 5,139,132 (GRCm39) S271P probably damaging Het
Slc35b2 T A 17: 45,877,751 (GRCm39) F293I probably damaging Het
Slc38a10 C T 11: 120,031,469 (GRCm39) V103M probably damaging Het
Stab2 T A 10: 86,723,759 (GRCm39) I1479F probably damaging Het
Synpo2 A G 3: 122,906,355 (GRCm39) V987A probably benign Het
Syt9 A G 7: 107,035,768 (GRCm39) I262V probably damaging Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tmem39a A T 16: 38,405,764 (GRCm39) I200F probably damaging Het
Ttn G A 2: 76,579,613 (GRCm39) T23760M probably damaging Het
Uqcrc1 C T 9: 108,773,773 (GRCm39) Q22* probably null Het
Zfp454 A G 11: 50,764,764 (GRCm39) S223P probably benign Het
Other mutations in Wdtc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Wdtc1 APN 4 133,022,543 (GRCm39) missense probably damaging 1.00
IGL02005:Wdtc1 APN 4 133,036,225 (GRCm39) missense probably benign 0.14
IGL02078:Wdtc1 APN 4 133,033,271 (GRCm39) missense probably damaging 1.00
IGL02146:Wdtc1 APN 4 133,029,076 (GRCm39) missense probably benign 0.00
IGL02724:Wdtc1 APN 4 133,024,789 (GRCm39) missense possibly damaging 0.78
IGL03196:Wdtc1 APN 4 133,022,648 (GRCm39) missense probably damaging 1.00
Furry UTSW 4 133,029,693 (GRCm39) critical splice donor site probably null
pear UTSW 4 133,021,702 (GRCm39) splice site probably null
Piliated UTSW 4 133,023,782 (GRCm39) missense probably damaging 1.00
R0448:Wdtc1 UTSW 4 133,024,811 (GRCm39) missense probably damaging 1.00
R0501:Wdtc1 UTSW 4 133,036,151 (GRCm39) missense possibly damaging 0.88
R1170:Wdtc1 UTSW 4 133,024,857 (GRCm39) missense probably damaging 0.99
R1439:Wdtc1 UTSW 4 133,029,118 (GRCm39) missense probably benign
R1456:Wdtc1 UTSW 4 133,024,739 (GRCm39) missense possibly damaging 0.83
R1833:Wdtc1 UTSW 4 133,036,053 (GRCm39) splice site probably benign
R4506:Wdtc1 UTSW 4 133,036,130 (GRCm39) missense probably damaging 1.00
R4687:Wdtc1 UTSW 4 133,023,742 (GRCm39) missense probably damaging 1.00
R4739:Wdtc1 UTSW 4 133,029,110 (GRCm39) missense possibly damaging 0.68
R4967:Wdtc1 UTSW 4 133,021,654 (GRCm39) missense probably damaging 0.99
R5032:Wdtc1 UTSW 4 133,036,162 (GRCm39) missense possibly damaging 0.89
R5193:Wdtc1 UTSW 4 133,021,678 (GRCm39) nonsense probably null
R5448:Wdtc1 UTSW 4 133,021,608 (GRCm39) missense probably benign
R5593:Wdtc1 UTSW 4 133,021,702 (GRCm39) splice site probably null
R5890:Wdtc1 UTSW 4 133,021,673 (GRCm39) missense unknown
R7536:Wdtc1 UTSW 4 133,022,561 (GRCm39) missense probably damaging 1.00
R7609:Wdtc1 UTSW 4 133,023,748 (GRCm39) missense probably damaging 1.00
R8127:Wdtc1 UTSW 4 133,029,693 (GRCm39) critical splice donor site probably null
R8129:Wdtc1 UTSW 4 133,031,460 (GRCm39) critical splice donor site probably null
R8431:Wdtc1 UTSW 4 133,049,481 (GRCm39) critical splice donor site probably null
R8725:Wdtc1 UTSW 4 133,041,114 (GRCm39) missense probably damaging 1.00
R8735:Wdtc1 UTSW 4 133,031,511 (GRCm39) nonsense probably null
R8937:Wdtc1 UTSW 4 133,031,470 (GRCm39) missense probably damaging 1.00
R9357:Wdtc1 UTSW 4 133,023,782 (GRCm39) missense probably damaging 1.00
R9387:Wdtc1 UTSW 4 133,036,058 (GRCm39) critical splice donor site probably null
R9415:Wdtc1 UTSW 4 133,022,684 (GRCm39) missense possibly damaging 0.91
R9476:Wdtc1 UTSW 4 133,049,529 (GRCm39) missense probably damaging 0.96
R9510:Wdtc1 UTSW 4 133,049,529 (GRCm39) missense probably damaging 0.96
R9738:Wdtc1 UTSW 4 133,022,604 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGATGCCCTAGCAACTTGGTCTC -3'
(R):5'- CGCTCCTTTACTGGCTCAAAGCAC -3'

Sequencing Primer
(F):5'- AGCAACTTGGTCTCATGGC -3'
(R):5'- TCAGCATGAAAGTGGCCC -3'
Posted On 2013-09-30