Incidental Mutation 'R1706:Ttc8'
ID 190089
Institutional Source Beutler Lab
Gene Symbol Ttc8
Ensembl Gene ENSMUSG00000021013
Gene Name tetratricopeptide repeat domain 8
Synonyms BBS8, 0610012F22Rik
MMRRC Submission 039739-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R1706 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98886833-98949497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98910142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 123 (T123K)
Ref Sequence ENSEMBL: ENSMUSP00000115828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079146] [ENSMUST00000085109] [ENSMUST00000132878]
AlphaFold Q8VD72
Predicted Effect probably benign
Transcript: ENSMUST00000079146
AA Change: T183K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078148
Gene: ENSMUSG00000021013
AA Change: T183K

DomainStartEndE-ValueType
Blast:TPR 4 37 5e-12 BLAST
TPR 225 258 2.35e-1 SMART
TPR 292 325 9.68e-3 SMART
Blast:TPR 326 359 3e-14 BLAST
TPR 360 393 2.26e-3 SMART
TPR 397 430 1.91e-1 SMART
TPR 431 464 1.81e-2 SMART
Blast:TPR 465 498 7e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000085109
AA Change: T173K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082190
Gene: ENSMUSG00000021013
AA Change: T173K

DomainStartEndE-ValueType
Blast:TPR 4 37 4e-12 BLAST
TPR 215 248 2.35e-1 SMART
TPR 282 315 9.68e-3 SMART
Blast:TPR 316 349 3e-14 BLAST
TPR 350 383 2.26e-3 SMART
TPR 387 420 1.91e-1 SMART
TPR 421 454 1.81e-2 SMART
Blast:TPR 455 488 7e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124514
Predicted Effect probably benign
Transcript: ENSMUST00000132878
AA Change: T123K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000115828
Gene: ENSMUSG00000021013
AA Change: T123K

DomainStartEndE-ValueType
SCOP:d1a17__ 128 206 2e-5 SMART
Blast:TPR 165 198 8e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223356
Meta Mutation Damage Score 0.0982 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality with slow postnatal weight gain, age related obesity, impaired olfation, loss of cilia from the olfactory epithelium, impaired targeting of olfactory sensory neuron axons, retinal degeneration, and mild renal tubule dilation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,624,059 (GRCm39) probably benign Het
4931406C07Rik G A 9: 15,209,153 (GRCm39) T47I probably damaging Het
Adcy2 T A 13: 68,868,865 (GRCm39) N558I probably damaging Het
Ago3 G A 4: 126,264,085 (GRCm39) P374S probably damaging Het
Ak8 T C 2: 28,650,007 (GRCm39) C345R possibly damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
BC005624 T C 2: 30,868,922 (GRCm39) E84G possibly damaging Het
Cav1 T C 6: 17,339,181 (GRCm39) F89L probably damaging Het
Cfap206 G A 4: 34,688,875 (GRCm39) P593L probably damaging Het
Clcn6 G A 4: 148,102,025 (GRCm39) T353I probably benign Het
Cstl1 G A 2: 148,593,079 (GRCm39) probably null Het
Cyp2d10 A C 15: 82,289,783 (GRCm39) S140A probably damaging Het
D130052B06Rik G A 11: 33,566,230 (GRCm39) R18H unknown Het
Ddi2 A G 4: 141,411,308 (GRCm39) F535L probably benign Het
Dop1a C T 9: 86,436,133 (GRCm39) T2383M possibly damaging Het
Duox1 A G 2: 122,149,953 (GRCm39) T115A probably benign Het
Ercc6l2 T A 13: 64,020,272 (GRCm39) probably benign Het
Gm7052 A G 17: 22,258,823 (GRCm39) probably benign Het
Gm9925 G A 18: 74,198,573 (GRCm39) probably benign Het
Gnas T A 2: 174,141,768 (GRCm39) S646T possibly damaging Het
Gpatch3 T A 4: 133,302,484 (GRCm39) C138* probably null Het
Igsf8 C T 1: 172,144,972 (GRCm39) R100C probably damaging Het
Kcnh3 A G 15: 99,135,959 (GRCm39) K652R possibly damaging Het
Kcnn4 T A 7: 24,074,167 (GRCm39) V77E probably damaging Het
Kif13b T A 14: 64,998,115 (GRCm39) probably benign Het
Lca5l T C 16: 95,977,164 (GRCm39) N214S probably benign Het
Luc7l3 T C 11: 94,188,582 (GRCm39) probably benign Het
Lypd3 T C 7: 24,339,755 (GRCm39) I274T probably benign Het
Macf1 A G 4: 123,264,377 (GRCm39) probably null Het
Mchr1 A G 15: 81,121,364 (GRCm39) Y38C probably damaging Het
Mia2 T A 12: 59,191,552 (GRCm39) L716* probably null Het
Mki67 A G 7: 135,302,295 (GRCm39) L913P probably benign Het
Mug2 T A 6: 122,013,191 (GRCm39) probably benign Het
Neu3 A G 7: 99,472,563 (GRCm39) L58P probably damaging Het
Or4p23 G A 2: 88,576,482 (GRCm39) P250L probably damaging Het
Or8h9 A T 2: 86,789,424 (GRCm39) I126N probably damaging Het
Pak1ip1 T C 13: 41,166,164 (GRCm39) V363A probably benign Het
Pcdhb16 A G 18: 37,612,705 (GRCm39) D555G probably benign Het
Pygb G A 2: 150,669,067 (GRCm39) G671D probably damaging Het
Rab30 A T 7: 92,478,875 (GRCm39) I79L possibly damaging Het
Rab44 C A 17: 29,357,080 (GRCm39) T70K probably damaging Het
Rccd1 C G 7: 79,970,411 (GRCm39) G69R possibly damaging Het
Sema5b T C 16: 35,470,125 (GRCm39) V329A probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Slc22a14 T C 9: 119,010,050 (GRCm39) N15S probably benign Het
Smurf2 G A 11: 106,715,573 (GRCm39) H632Y probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tgm6 T C 2: 129,987,079 (GRCm39) C516R possibly damaging Het
Tmprss9 T C 10: 80,734,021 (GRCm39) probably benign Het
Trim67 A G 8: 125,521,160 (GRCm39) N174S probably damaging Het
Ugt1a7c T A 1: 88,023,447 (GRCm39) M202K probably damaging Het
Vmn2r7 T A 3: 64,598,880 (GRCm39) H559L possibly damaging Het
Zfp511 A G 7: 139,617,192 (GRCm39) D96G probably benign Het
Zfp868 A G 8: 70,065,060 (GRCm39) Y92H probably benign Het
Zzz3 T A 3: 152,154,735 (GRCm39) D633E probably damaging Het
Other mutations in Ttc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Ttc8 APN 12 98,942,277 (GRCm39) missense probably damaging 0.96
IGL01139:Ttc8 APN 12 98,930,804 (GRCm39) nonsense probably null
IGL02179:Ttc8 APN 12 98,930,796 (GRCm39) missense possibly damaging 0.87
IGL02715:Ttc8 APN 12 98,910,179 (GRCm39) splice site probably benign
IGL02958:Ttc8 APN 12 98,930,803 (GRCm39) missense probably benign 0.03
IGL03249:Ttc8 APN 12 98,910,080 (GRCm39) splice site probably benign
P0035:Ttc8 UTSW 12 98,942,675 (GRCm39) splice site probably benign
R0606:Ttc8 UTSW 12 98,909,718 (GRCm39) splice site probably benign
R1005:Ttc8 UTSW 12 98,903,403 (GRCm39) missense probably benign 0.11
R1584:Ttc8 UTSW 12 98,887,023 (GRCm39) missense probably benign 0.01
R1628:Ttc8 UTSW 12 98,948,780 (GRCm39) missense probably benign 0.07
R4585:Ttc8 UTSW 12 98,948,789 (GRCm39) missense probably benign
R4720:Ttc8 UTSW 12 98,946,068 (GRCm39) missense possibly damaging 0.94
R4879:Ttc8 UTSW 12 98,908,562 (GRCm39) missense possibly damaging 0.55
R5110:Ttc8 UTSW 12 98,908,562 (GRCm39) missense probably benign 0.25
R6272:Ttc8 UTSW 12 98,948,753 (GRCm39) missense possibly damaging 0.63
R6465:Ttc8 UTSW 12 98,930,829 (GRCm39) missense probably damaging 1.00
R6620:Ttc8 UTSW 12 98,923,579 (GRCm39) missense possibly damaging 0.95
R6708:Ttc8 UTSW 12 98,909,791 (GRCm39) missense probably damaging 0.99
R6772:Ttc8 UTSW 12 98,909,848 (GRCm39) missense probably damaging 1.00
R6901:Ttc8 UTSW 12 98,927,735 (GRCm39) missense probably damaging 1.00
R7060:Ttc8 UTSW 12 98,909,726 (GRCm39) missense probably benign
R7117:Ttc8 UTSW 12 98,942,761 (GRCm39) missense possibly damaging 0.63
R7174:Ttc8 UTSW 12 98,940,960 (GRCm39) missense possibly damaging 0.79
R7385:Ttc8 UTSW 12 98,908,547 (GRCm39) missense possibly damaging 0.78
R7447:Ttc8 UTSW 12 98,910,131 (GRCm39) missense probably damaging 0.97
R7589:Ttc8 UTSW 12 98,942,696 (GRCm39) missense probably damaging 1.00
R8517:Ttc8 UTSW 12 98,909,594 (GRCm39) missense probably benign
R9397:Ttc8 UTSW 12 98,942,692 (GRCm39) nonsense probably null
R9629:Ttc8 UTSW 12 98,886,965 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CAGGTACAATGGAACAGGCCATCAG -3'
(R):5'- CAGACAGTGTCAAGCTTCGTCCTAC -3'

Sequencing Primer
(F):5'- CACTAGCTCATCTGGAAGATTCG -3'
(R):5'- AAAGATGATACTGCCTCTCTGCG -3'
Posted On 2014-05-14