Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Ttc8'

54168

Institutional Source

Beutler Lab

Gene Symbol

Ttc8

Ensembl Gene

ENSMUSG00000021013

Gene Name

tetratricopeptide repeat domain 8

Synonyms

BBS8, 0610012F22Rik

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R0606 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

98886833-98949497 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 98909718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079146] [ENSMUST00000085109] [ENSMUST00000132878]

AlphaFold

Q8VD72

Predicted Effect

probably benign
Transcript: ENSMUST00000079146

SMART Domains

Protein: ENSMUSP00000078148
Gene: ENSMUSG00000021013

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000082190
Gene: ENSMUSG00000021013

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000115828
Gene: ENSMUSG00000021013

Domain	Start	End	E-Value	Type
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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	probably benign	Het

Other mutations in Ttc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GTCTTCTTTCCCAGCCCAGTACAAG -3'
(R):5'- AGTCCCCAGTCTGACGAATCTTCC -3'

Sequencing Primer
(F):5'- GCCCAGTACAAGTCTGAAAATTAG -3'
(R):5'- CAGTCTGACGAATCTTCCAGATG -3'

Posted On

2013-07-11