Incidental Mutation 'IGL01449:Ttc1'
ID84550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc1
Ensembl Gene ENSMUSG00000041278
Gene Nametetratricopeptide repeat domain 1
Synonyms4833412C19Rik, TPR1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.928) question?
Stock #IGL01449
Quality Score
Status
Chromosome11
Chromosomal Location43729512-43748008 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43738803 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 179 (S179C)
Ref Sequence ENSEMBL: ENSMUSP00000104901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048578] [ENSMUST00000109278]
Predicted Effect probably damaging
Transcript: ENSMUST00000048578
AA Change: S179C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040779
Gene: ENSMUSG00000041278
AA Change: S179C

DomainStartEndE-ValueType
low complexity region 85 101 N/A INTRINSIC
TPR 116 149 9.39e-1 SMART
TPR 155 188 1.23e-4 SMART
TPR 189 222 7.06e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109278
AA Change: S179C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104901
Gene: ENSMUSG00000041278
AA Change: S179C

DomainStartEndE-ValueType
low complexity region 85 101 N/A INTRINSIC
TPR 116 149 9.39e-1 SMART
TPR 155 188 1.23e-4 SMART
TPR 189 222 7.06e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 72,444,849 L33F probably benign Het
Actr8 T C 14: 29,990,970 probably null Het
Aldh16a1 C A 7: 45,141,967 A105S probably damaging Het
Angpt2 T C 8: 18,710,625 T154A probably benign Het
BC051665 A G 13: 60,782,704 V278A probably damaging Het
Cap1 T C 4: 122,860,187 T458A probably damaging Het
Clcn3 A T 8: 60,934,598 S179T probably damaging Het
Cyp2a22 T C 7: 26,933,553 D408G probably benign Het
D430042O09Rik T A 7: 125,870,685 V1442D probably damaging Het
Fam217b T A 2: 178,421,150 S302R probably damaging Het
Fcho2 A T 13: 98,789,807 D89E probably benign Het
Fnip1 C T 11: 54,499,508 R434C probably damaging Het
Gga3 G A 11: 115,589,102 T261M probably damaging Het
Gm21985 T C 2: 112,339,396 F292L probably damaging Het
Gm43638 A T 5: 87,486,215 S178T possibly damaging Het
Igkv10-95 G A 6: 68,680,764 G68E probably damaging Het
Lpcat2 G A 8: 92,871,147 R180Q possibly damaging Het
Muc6 C T 7: 141,638,614 A1984T possibly damaging Het
Npy4r T A 14: 34,146,365 Y322F probably damaging Het
Nwd2 T A 5: 63,805,594 H840Q probably damaging Het
Olfr844 G A 9: 19,319,233 G233D probably damaging Het
Osbpl2 G T 2: 180,145,194 probably benign Het
Pclo T A 5: 14,678,516 probably benign Het
Pold4 T C 19: 4,232,867 probably benign Het
Ppp1r16a A G 15: 76,694,294 probably benign Het
Pprc1 C T 19: 46,065,232 probably benign Het
Prkcg A G 7: 3,319,619 D343G probably benign Het
Scaf11 A C 15: 96,419,126 S852R probably benign Het
Slc31a2 C T 4: 62,292,696 T22I probably damaging Het
Sox30 T A 11: 45,981,342 D341E probably damaging Het
Tle4 A G 19: 14,465,340 S339P probably benign Het
Tsg101 A T 7: 46,908,925 Y78N probably damaging Het
Txnrd3 T A 6: 89,654,147 S142T probably benign Het
Ubr4 C A 4: 139,412,736 A1210E probably damaging Het
Uroc1 C A 6: 90,338,653 P172Q probably damaging Het
Usp12 T C 5: 146,754,440 D168G probably benign Het
Vmn1r32 T A 6: 66,552,932 M287L probably benign Het
Vwa8 C T 14: 79,182,988 Q1710* probably null Het
Wdfy4 T A 14: 33,104,037 Q1219L probably damaging Het
Zbtb17 A G 4: 141,463,305 T145A probably benign Het
Zfp697 T C 3: 98,427,530 C204R probably damaging Het
Other mutations in Ttc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Ttc1 APN 11 43730493 missense probably damaging 0.96
IGL01980:Ttc1 APN 11 43730464 utr 3 prime probably benign
IGL02414:Ttc1 APN 11 43739837 splice site probably benign
IGL02541:Ttc1 APN 11 43738821 missense probably benign
IGL03006:Ttc1 APN 11 43745320 missense probably benign
IGL03253:Ttc1 APN 11 43738823 missense probably benign 0.01
PIT4434001:Ttc1 UTSW 11 43745128 missense probably damaging 1.00
R0113:Ttc1 UTSW 11 43745288 missense probably benign 0.25
R0391:Ttc1 UTSW 11 43738808 missense probably damaging 1.00
R1037:Ttc1 UTSW 11 43730499 missense possibly damaging 0.90
R4667:Ttc1 UTSW 11 43745317 missense probably benign 0.01
R7493:Ttc1 UTSW 11 43745362 missense probably damaging 1.00
R7956:Ttc1 UTSW 11 43736413 critical splice donor site probably null
R8032:Ttc1 UTSW 11 43737979 missense probably damaging 0.98
Posted On2013-11-11