Incidental Mutation 'IGL02679:Tldc1'
ID303302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tldc1
Ensembl Gene ENSMUSG00000034105
Gene NameTBC/LysM associated domain containing 1
Synonyms4632415K11Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02679
Quality Score
Status
Chromosome8
Chromosomal Location119760076-119778416 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119772410 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 114 (D114E)
Ref Sequence ENSEMBL: ENSMUSP00000044430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049156] [ENSMUST00000212534]
Predicted Effect probably benign
Transcript: ENSMUST00000049156
AA Change: D114E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044430
Gene: ENSMUSG00000034105
AA Change: D114E

DomainStartEndE-ValueType
TLDc 241 410 4.36e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212501
Predicted Effect probably benign
Transcript: ENSMUST00000212534
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,182,979 probably benign Het
Adam5 A T 8: 24,806,526 Y302N probably damaging Het
Ankrd34c A T 9: 89,730,079 Y70N probably damaging Het
Asph G A 4: 9,601,349 P190S possibly damaging Het
Atp6v1h T C 1: 5,124,302 C235R probably damaging Het
Brwd1 A G 16: 96,002,823 L2049P probably benign Het
Capn2 T A 1: 182,472,584 I614F probably benign Het
Ccdc126 T A 6: 49,334,061 M1K probably null Het
Cdh9 T C 15: 16,832,230 I401T probably damaging Het
Cep57l1 T C 10: 41,729,386 E121G probably damaging Het
Cfap46 A G 7: 139,614,470 I2276T probably damaging Het
Cnnm3 T C 1: 36,520,158 S490P probably benign Het
D430041D05Rik C T 2: 104,230,305 V731I possibly damaging Het
Fgf3 C A 7: 144,840,750 N100K probably damaging Het
Gas7 G A 11: 67,675,727 probably null Het
Gfm1 C T 3: 67,474,767 P725S possibly damaging Het
Gimap4 T A 6: 48,690,495 C61* probably null Het
Greb1 C T 12: 16,708,723 R664Q probably damaging Het
Kpnb1 T A 11: 97,177,260 I295F possibly damaging Het
Lamc3 A G 2: 31,945,398 E1577G probably benign Het
Lrrk1 C T 7: 66,274,872 V235M probably damaging Het
Mipol1 T A 12: 57,306,043 V56E possibly damaging Het
Mycbp2 T C 14: 103,205,185 I1927V probably benign Het
Ncaph A T 2: 127,124,864 N223K possibly damaging Het
Nipbl A G 15: 8,295,553 M2542T probably benign Het
Nolc1 C A 19: 46,083,029 probably benign Het
Olfr16 G A 1: 172,957,176 C127Y probably damaging Het
Olfr555 A G 7: 102,659,177 M119V possibly damaging Het
Pkhd1l1 T C 15: 44,530,045 probably null Het
Ppat A T 5: 76,919,469 C306S probably benign Het
Ptpn13 A T 5: 103,569,454 M1821L possibly damaging Het
Rabl3 C T 16: 37,541,925 S42L probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfx3 G A 19: 27,849,737 H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 M312V possibly damaging Het
Slc10a2 T A 8: 5,098,499 T149S probably damaging Het
Spata21 T C 4: 141,111,265 probably benign Het
Stx8 G T 11: 67,969,772 W6C probably damaging Het
Tcn2 T C 11: 3,927,504 E48G possibly damaging Het
Tctex1d2 T C 16: 32,425,307 V107A possibly damaging Het
Tecpr1 A T 5: 144,206,546 N670K probably benign Het
Tmem255b G A 8: 13,457,055 M240I probably benign Het
Ubr4 G A 4: 139,459,134 E651K probably damaging Het
Ubr5 T C 15: 38,002,314 T1498A probably benign Het
Vmn2r95 G A 17: 18,443,854 C445Y probably damaging Het
Zfp429 T A 13: 67,399,736 probably benign Het
Zfp804b T G 5: 6,771,392 D557A possibly damaging Het
Other mutations in Tldc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Tldc1 APN 8 119772595 missense probably benign 0.01
IGL00886:Tldc1 APN 8 119773268 splice site probably benign
IGL02896:Tldc1 APN 8 119762425 missense probably damaging 1.00
R0126:Tldc1 UTSW 8 119762350 missense possibly damaging 0.93
R0456:Tldc1 UTSW 8 119768423 missense probably damaging 0.96
R1831:Tldc1 UTSW 8 119771253 missense probably null 0.00
R2919:Tldc1 UTSW 8 119768317 missense probably benign
R3114:Tldc1 UTSW 8 119768317 missense probably benign
R3116:Tldc1 UTSW 8 119768317 missense probably benign
R4763:Tldc1 UTSW 8 119768383 missense probably benign 0.09
R4796:Tldc1 UTSW 8 119768354 missense probably benign 0.13
R4858:Tldc1 UTSW 8 119772523 missense probably benign 0.17
R4976:Tldc1 UTSW 8 119768143 missense probably damaging 0.97
R5119:Tldc1 UTSW 8 119768143 missense probably damaging 0.97
R5393:Tldc1 UTSW 8 119772418 missense probably benign 0.13
R6811:Tldc1 UTSW 8 119768290 missense possibly damaging 0.95
R6828:Tldc1 UTSW 8 119772567 missense possibly damaging 0.51
R7237:Tldc1 UTSW 8 119762315 missense probably damaging 1.00
Posted On2015-04-16