Incidental Mutation 'R6772:Ttc8'
ID 532217
Institutional Source Beutler Lab
Gene Symbol Ttc8
Ensembl Gene ENSMUSG00000021013
Gene Name tetratricopeptide repeat domain 8
Synonyms BBS8, 0610012F22Rik
MMRRC Submission 044888-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R6772 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 98886833-98949497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 98909848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 143 (S143R)
Ref Sequence ENSEMBL: ENSMUSP00000082190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079146] [ENSMUST00000085109] [ENSMUST00000132878]
AlphaFold Q8VD72
Predicted Effect possibly damaging
Transcript: ENSMUST00000079146
AA Change: S153R

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078148
Gene: ENSMUSG00000021013
AA Change: S153R

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 damaging
Transcript: ENSMUST00000085109
AA Change: S143R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082190
Gene: ENSMUSG00000021013
AA Change: S143R

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 probably damaging
Transcript: ENSMUST00000132878
AA Change: S93R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115828
Gene: ENSMUSG00000021013
AA Change: S93R

DomainStartEndE-ValueType
SCOP:d1a17__ 128 206 2e-5 SMART
Blast:TPR 165 198 8e-18 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 97% (36/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,276 (GRCm39) D1144V probably damaging Het
Ankrd13a A G 5: 114,939,804 (GRCm39) H477R probably benign Het
Anxa3 A T 5: 96,958,972 (GRCm39) I27F probably damaging Het
Aplf T C 6: 87,640,781 (GRCm39) E76G possibly damaging Het
Bbs1 A G 19: 4,956,618 (GRCm39) probably benign Het
Camk2a T C 18: 61,102,092 (GRCm39) S332P probably benign Het
Casz1 T A 4: 149,027,663 (GRCm39) F1013L probably damaging Het
Cd109 A T 9: 78,588,092 (GRCm39) I707F possibly damaging Het
Cd4 G A 6: 124,849,421 (GRCm39) T202I probably benign Het
Celsr1 A G 15: 85,914,983 (GRCm39) S997P probably benign Het
Cfap77 T C 2: 28,944,951 (GRCm39) T24A probably damaging Het
Dscaml1 G A 9: 45,621,609 (GRCm39) R1019H probably damaging Het
Epb41l4b C A 4: 57,063,140 (GRCm39) V517F probably benign Het
Exosc10 G A 4: 148,665,591 (GRCm39) D818N probably damaging Het
Furin C T 7: 80,043,240 (GRCm39) G324S probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifi206 T C 1: 173,308,773 (GRCm39) M408V unknown Het
Kdm4a T C 4: 117,999,752 (GRCm39) probably null Het
Neo1 T A 9: 58,810,259 (GRCm39) Q1064L probably damaging Het
Nphp4 G A 4: 152,628,863 (GRCm39) V750I probably benign Het
Pcdhac1 T C 18: 37,223,289 (GRCm39) V34A probably benign Het
Pdk4 T C 6: 5,487,141 (GRCm39) I302V probably benign Het
Prl6a1 A G 13: 27,503,031 (GRCm39) D209G probably damaging Het
Pspn T C 17: 57,306,515 (GRCm39) Q138R probably benign Het
Ptgs2 A G 1: 149,977,829 (GRCm39) Y134C probably damaging Het
Rlbp1 G A 7: 79,033,798 (GRCm39) probably benign Het
Rpia T C 6: 70,762,532 (GRCm39) I108V probably benign Het
Tcaf1 A T 6: 42,652,210 (GRCm39) H757Q probably damaging Het
Uba6 A G 5: 86,294,932 (GRCm39) probably benign Het
Ubr4 A T 4: 139,194,541 (GRCm39) K4280* probably null Het
Vmn2r15 C A 5: 109,434,238 (GRCm39) S822I probably damaging Het
Vps53 A T 11: 76,070,324 (GRCm39) M1K probably null Het
Zfp362 A G 4: 128,684,053 (GRCm39) M18T possibly damaging Het
Zfp429 A G 13: 67,538,317 (GRCm39) C376R probably damaging Het
Zfyve9 T C 4: 108,496,466 (GRCm39) N1395S probably damaging Het
Zmynd8 T A 2: 165,649,521 (GRCm39) Q857H probably benign 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
R1706:Ttc8 UTSW 12 98,910,142 (GRCm39) missense probably benign 0.02
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
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'- TGTTTTCAAATCCTGACCAGACC -3'
(R):5'- AGCTGAAAACCTTCTCTTGGAAC -3'

Sequencing Primer
(F):5'- GACCAGACCATCTCCTTAATTGATC -3'
(R):5'- CTCTTGGAACATAGAGTTTCGTATGC -3'
Posted On 2018-08-29