Incidental Mutation 'R4585:Ttc8'
ID 344047
Institutional Source Beutler Lab
Gene Symbol Ttc8
Ensembl Gene ENSMUSG00000021013
Gene Name tetratricopeptide repeat domain 8
Synonyms BBS8, 0610012F22Rik
MMRRC Submission 041806-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R4585 (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 98948789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 492 (Q492K)
Ref Sequence ENSEMBL: ENSMUSP00000082190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079146] [ENSMUST00000085109]
AlphaFold Q8VD72
Predicted Effect probably benign
Transcript: ENSMUST00000079146
AA Change: Q502K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078148
Gene: ENSMUSG00000021013
AA Change: Q502K

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: Q492K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082190
Gene: ENSMUSG00000021013
AA Change: Q492K

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: ENSMUST00000139298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168255
Meta Mutation Damage Score 0.0936 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (90/91)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,026,151 (GRCm39) S1269P probably benign Het
Akr7a5 G T 4: 139,038,238 (GRCm39) R58L probably benign Het
Art2a A T 7: 101,203,956 (GRCm39) L194* probably null Het
Aurkaip1 C A 4: 155,917,091 (GRCm39) A113D possibly damaging Het
Bsn T C 9: 107,987,662 (GRCm39) probably benign Het
Ccdc175 T G 12: 72,221,953 (GRCm39) D123A possibly damaging Het
Ccdc7b A G 8: 129,837,401 (GRCm39) T131A probably benign Het
Ccnt2 T C 1: 127,730,766 (GRCm39) S548P probably damaging Het
Cep126 T C 9: 8,103,338 (GRCm39) Q224R probably damaging Het
Cic A T 7: 24,972,203 (GRCm39) I645L probably benign Het
Cngb1 C T 8: 96,023,756 (GRCm39) probably null Het
Col13a1 T C 10: 61,723,024 (GRCm39) probably null Het
Corin A T 5: 72,487,042 (GRCm39) V706D probably damaging Het
Crebrf A G 17: 26,981,229 (GRCm39) K535R probably damaging Het
Cuzd1 G A 7: 130,916,529 (GRCm39) P310L probably damaging Het
Cxcr5 T A 9: 44,425,442 (GRCm39) I72F probably benign Het
Dapp1 T C 3: 137,644,932 (GRCm39) Q148R probably benign Het
Dcaf17 T A 2: 70,918,924 (GRCm39) S499R probably benign Het
Defb3 A T 8: 19,345,172 (GRCm39) I43F possibly damaging Het
Dlgap2 G A 8: 14,777,999 (GRCm39) probably null Het
Dnah8 A G 17: 30,970,541 (GRCm39) D2684G probably benign Het
Dnajc10 T G 2: 80,178,122 (GRCm39) F710V probably damaging Het
Ep400 G A 5: 110,901,725 (GRCm39) T464I probably damaging Het
Epc1 G A 18: 6,441,157 (GRCm39) Q14* probably null Het
Eral1 A T 11: 77,969,130 (GRCm39) N123K probably damaging Het
Ercc5 G A 1: 44,198,017 (GRCm39) V145I probably benign Het
Evc A G 5: 37,481,057 (GRCm39) S263P probably damaging Het
Fancc A T 13: 63,495,378 (GRCm39) M182K probably benign Het
Fbxl3 G T 14: 103,320,526 (GRCm39) A355E probably damaging Het
Glra3 C A 8: 56,542,028 (GRCm39) T257K probably damaging Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Gm14393 C A 2: 174,904,497 (GRCm39) probably benign Het
Gm19965 T A 1: 116,749,508 (GRCm39) N396K probably benign Het
Gm27013 A T 6: 130,498,003 (GRCm39) noncoding transcript Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gsdmd T A 15: 75,737,600 (GRCm39) probably null Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2ac15 T C 13: 21,937,882 (GRCm39) N39S possibly damaging Het
Hap1 G A 11: 100,245,550 (GRCm39) T138M probably benign Het
Ints2 G T 11: 86,140,101 (GRCm39) R244S probably damaging Het
Itgb4 T C 11: 115,884,151 (GRCm39) V945A probably damaging Het
Itih2 C T 2: 10,115,211 (GRCm39) S387N probably benign Het
Klra2 T A 6: 131,207,120 (GRCm39) D163V probably benign Het
Lctl T C 9: 64,038,882 (GRCm39) S324P probably damaging Het
Lrrc24 C A 15: 76,607,889 (GRCm39) R43L probably damaging Het
Mogs G T 6: 83,095,619 (GRCm39) R812L possibly damaging Het
Mroh5 T A 15: 73,661,120 (GRCm39) T467S probably benign Het
Mtap G A 4: 89,090,511 (GRCm39) V194I probably benign Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Obox1 A T 7: 15,290,152 (GRCm39) N165I possibly damaging Het
Or1j1 C T 2: 36,702,537 (GRCm39) C189Y probably damaging Het
Or4b1d T A 2: 89,968,558 (GRCm39) E308D probably benign Het
Or4c113 T G 2: 88,885,498 (GRCm39) I91L possibly damaging Het
Or6c35 A G 10: 129,169,142 (GRCm39) T131A probably benign Het
Pabpc6 A G 17: 9,888,002 (GRCm39) L183P probably damaging Het
Pcdh15 C T 10: 74,460,116 (GRCm39) R1355W probably damaging Het
Pcdhgb8 C A 18: 37,895,413 (GRCm39) A161E probably benign Het
Pex1 A G 5: 3,683,885 (GRCm39) Y1127C probably damaging Het
Phc2 A T 4: 128,637,303 (GRCm39) H563L probably damaging Het
Plekha2 C A 8: 25,533,685 (GRCm39) E291* probably null Het
Qser1 C A 2: 104,617,138 (GRCm39) V1225L probably benign Het
Ralgapa2 A T 2: 146,156,944 (GRCm39) D1882E probably damaging Het
Rgs17 T C 10: 5,792,596 (GRCm39) D70G probably benign Het
Runx1t1 A T 4: 13,889,864 (GRCm39) T598S unknown Het
Scn2a T A 2: 65,573,395 (GRCm39) probably null Het
Serpinb10 T A 1: 107,474,779 (GRCm39) C314S probably benign Het
Setbp1 A C 18: 79,130,164 (GRCm39) S23A probably benign Het
Sh3pxd2b A G 11: 32,346,479 (GRCm39) D116G possibly damaging Het
Slc4a1 G T 11: 102,252,245 (GRCm39) probably benign Het
Snx19 T C 9: 30,351,491 (GRCm39) L155P probably damaging Het
Sox2 A G 3: 34,705,193 (GRCm39) N210S probably benign Het
Spag6 T C 2: 18,736,958 (GRCm39) probably null Het
Speer4b A T 5: 27,703,036 (GRCm39) L154Q probably null Het
Strn3 T A 12: 51,696,953 (GRCm39) E259D probably benign Het
Tenm1 G A X: 41,626,856 (GRCm39) Q1931* probably null Het
Trp53bp1 C G 2: 121,038,432 (GRCm39) G1469R probably damaging Het
Ttn T C 2: 76,798,747 (GRCm39) H509R probably benign Het
Utrn T A 10: 12,564,050 (GRCm39) H1270L probably benign Het
Vopp1 G A 6: 57,731,533 (GRCm39) P153S probably damaging Het
Wdfy4 T A 14: 32,809,912 (GRCm39) I1770F possibly damaging Het
Zfp14 G T 7: 29,738,341 (GRCm39) Q215K probably damaging Het
Zfp473 A T 7: 44,382,376 (GRCm39) Y651* probably null Het
Zfp735 G T 11: 73,580,550 (GRCm39) E16D possibly 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
R1706:Ttc8 UTSW 12 98,910,142 (GRCm39) missense probably benign 0.02
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'- ACTATCAGGGACAGGGTTTGTG -3'
(R):5'- ACAACAGGTTCGGGTTTGC -3'

Sequencing Primer
(F):5'- CAGGGACAGGGTTTGTGATTCATAAC -3'
(R):5'- CAGTCTTGTAGGATGCCTTATGAG -3'
Posted On 2015-09-24