Incidental Mutation 'IGL01785:Ttc29'
ID153773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc29
Ensembl Gene ENSMUSG00000037101
Gene Nametetratricopeptide repeat domain 29
Synonyms1700031F13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.047) question?
Stock #IGL01785
Quality Score
Status
Chromosome8
Chromosomal Location78213297-78394326 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78282341 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 280 (L280P)
Ref Sequence ENSEMBL: ENSMUSP00000105528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049395] [ENSMUST00000109902]
Predicted Effect probably damaging
Transcript: ENSMUST00000049395
AA Change: L280P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041919
Gene: ENSMUSG00000037101
AA Change: L280P

DomainStartEndE-ValueType
low complexity region 189 199 N/A INTRINSIC
Blast:TPR 234 267 2e-7 BLAST
TPR 274 307 4.1e1 SMART
TPR 314 347 2.48e0 SMART
TPR 354 387 2.48e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109902
AA Change: L280P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105528
Gene: ENSMUSG00000037101
AA Change: L280P

DomainStartEndE-ValueType
low complexity region 189 199 N/A INTRINSIC
Blast:TPR 234 267 2e-7 BLAST
TPR 274 307 4.1e1 SMART
TPR 314 347 2.48e0 SMART
TPR 354 387 2.48e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,915,058 Y309* probably null Het
Abhd18 G A 3: 40,905,904 R42Q probably damaging Het
Ano3 T A 2: 110,682,715 Q645L probably damaging Het
Clasp1 T A 1: 118,497,736 L272Q possibly damaging Het
Clec1b A G 6: 129,403,562 D115G probably damaging Het
Clec2e A T 6: 129,093,401 probably benign Het
Corin T C 5: 72,339,876 N532S probably damaging Het
Csn1s2b A G 5: 87,809,913 K2R possibly damaging Het
Mcm8 A G 2: 132,827,948 D314G probably benign Het
Mga T A 2: 119,902,912 D80E probably damaging Het
Msh4 A G 3: 153,857,507 L744P probably damaging Het
Myof A T 19: 37,980,423 L348* probably null Het
Olfr1348 T C 7: 6,501,900 I109V probably benign Het
Olfr530 T A 7: 140,373,125 M162L probably benign Het
Otud3 T C 4: 138,896,897 D278G probably benign Het
Pdpr C A 8: 111,129,656 H670Q probably damaging Het
Phf21b C A 15: 84,808,061 probably benign Het
Polr3a G A 14: 24,484,120 Q106* probably null Het
Ptprm G T 17: 66,685,623 N1366K probably damaging Het
Slc10a5 G A 3: 10,335,199 P134S probably benign Het
Slc30a9 A G 5: 67,346,238 probably benign Het
Stat6 T A 10: 127,657,227 V576D probably damaging Het
Tmem132d T C 5: 127,984,315 I408V probably benign Het
Tmem50a T C 4: 134,898,447 E153G probably damaging Het
Tmod4 A G 3: 95,125,618 T22A probably benign Het
Tmprss7 C T 16: 45,680,634 G268D probably damaging Het
Tor1a A G 2: 30,963,703 probably null Het
Tusc5 G A 11: 76,680,466 V103I probably benign Het
Usp20 A G 2: 31,017,163 E594G probably benign Het
Vmn1r31 A C 6: 58,472,724 M3R possibly damaging Het
Other mutations in Ttc29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Ttc29 APN 8 78333756 missense probably benign 0.13
IGL02412:Ttc29 APN 8 78276940 missense possibly damaging 0.47
IGL03068:Ttc29 APN 8 78325551 missense probably benign 0.00
R0523:Ttc29 UTSW 8 78276837 missense probably benign 0.01
R1214:Ttc29 UTSW 8 78325582 missense probably damaging 1.00
R1869:Ttc29 UTSW 8 78282385 missense probably benign
R1902:Ttc29 UTSW 8 78251732 missense probably benign 0.03
R1903:Ttc29 UTSW 8 78251732 missense probably benign 0.03
R4612:Ttc29 UTSW 8 78325546 missense probably benign 0.02
R4649:Ttc29 UTSW 8 78333579 missense probably benign 0.12
R4892:Ttc29 UTSW 8 78333645 missense probably damaging 0.98
R5306:Ttc29 UTSW 8 78251910 critical splice donor site probably null
R5649:Ttc29 UTSW 8 78246313 missense possibly damaging 0.47
R5996:Ttc29 UTSW 8 78276896 missense probably damaging 0.99
R6036:Ttc29 UTSW 8 78325576 missense probably benign 0.03
R6036:Ttc29 UTSW 8 78325576 missense probably benign 0.03
R6495:Ttc29 UTSW 8 78282334 missense possibly damaging 0.79
R6813:Ttc29 UTSW 8 78333620 missense probably benign 0.01
R6961:Ttc29 UTSW 8 78276916 missense possibly damaging 0.77
Posted On2014-02-04