Incidental Mutation 'IGL02412:Ttc29'
ID294396
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: 0.073) question?
Stock #IGL02412
Quality Score
Status
Chromosome8
Chromosomal Location78213297-78394326 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78276940 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 262 (E262K)
Ref Sequence ENSEMBL: ENSMUSP00000105528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049395] [ENSMUST00000109902]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049395
AA Change: E262K

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041919
Gene: ENSMUSG00000037101
AA Change: E262K

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 possibly damaging
Transcript: ENSMUST00000109902
AA Change: E262K

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105528
Gene: ENSMUSG00000037101
AA Change: E262K

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 noncoding transcript
Transcript: ENSMUST00000143157
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,628,872 F2032L possibly damaging Het
Caps2 T C 10: 112,204,036 probably null Het
Ccdc88b A T 19: 6,846,644 F1414I probably damaging Het
Cr1l T G 1: 195,114,772 Y319S probably damaging Het
Cr1l C T 1: 195,114,766 G283E probably damaging Het
Csmd2 G A 4: 128,513,372 probably benign Het
Dhx37 T A 5: 125,431,628 K81M probably damaging Het
Dzip3 T A 16: 48,958,457 M326L probably benign Het
Exosc10 A G 4: 148,568,392 D488G probably benign Het
Gm2058 G A 7: 39,589,033 noncoding transcript Het
Gm43638 T A 5: 87,486,136 Q204L possibly damaging Het
Gm4847 T C 1: 166,641,738 D119G probably damaging Het
Gnb3 A C 6: 124,837,462 M120R probably benign Het
Il16 A C 7: 83,652,691 D74E probably benign Het
Kpna1 T C 16: 36,031,191 F382L probably benign Het
Krt33a G T 11: 100,011,979 Q340K probably benign Het
Lrrc17 T A 5: 21,560,879 S120T possibly damaging Het
Mapk3 C A 7: 126,763,038 Y56* probably null Het
Mfhas1 C T 8: 35,588,815 A148V probably benign Het
Npr2 A G 4: 43,647,005 I713V probably damaging Het
Obp1a T A X: 78,088,374 Y108F probably damaging Het
Olfr18 T A 9: 20,314,639 S86C probably benign Het
Olfr203 T A 16: 59,303,192 L13H probably damaging Het
Olfr429 T C 1: 174,089,243 F68L probably benign Het
Olfr583 A T 7: 103,052,152 M285L probably benign Het
Pias1 A T 9: 62,893,139 N430K probably benign Het
Ralgapa2 G T 2: 146,412,132 A836D probably damaging Het
Rftn2 T C 1: 55,206,338 E238G probably benign Het
Samt4 T G X: 154,484,122 S86A probably damaging Het
Setd2 T C 9: 110,550,774 M1219T probably benign Het
Sh3pxd2b T A 11: 32,387,992 D99E probably damaging Het
Sh3rf1 A T 8: 61,372,689 T573S probably benign Het
Sugct A G 13: 17,662,801 W82R probably damaging Het
Syt4 T G 18: 31,443,843 K153Q probably benign Het
Tbrg1 T C 9: 37,652,612 probably null Het
Tex36 C T 7: 133,587,408 R145K probably benign Het
Tfap2b A T 1: 19,219,203 D166V probably damaging Het
Trhde T C 10: 114,486,925 Y694C probably damaging Het
Trpc1 G A 9: 95,736,861 L146F probably damaging Het
Ttn A T 2: 76,716,949 I32251N probably damaging Het
Ttn G T 2: 76,782,347 D17129E probably benign Het
Ucma T A 2: 4,976,825 I47N probably damaging Het
Vmn1r13 A T 6: 57,210,489 K211M possibly damaging Het
Vmn2r95 A C 17: 18,439,956 H210P probably damaging Het
Xpc T C 6: 91,499,785 E444G probably benign Het
Yy1 T C 12: 108,794,097 probably benign Het
Zfp217 A G 2: 170,112,502 probably benign Het
Zfp318 T A 17: 46,409,117 Y1080* probably null Het
Other mutations in Ttc29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Ttc29 APN 8 78333756 missense probably benign 0.13
IGL01785:Ttc29 APN 8 78282341 missense probably damaging 1.00
IGL03068:Ttc29 APN 8 78325551 missense probably benign 0.00
PIT4519001:Ttc29 UTSW 8 78325477 missense probably benign 0.04
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 On2015-04-16