Mutagenetix > Incidental Mutation

Incidental Mutation 'R7117:Ttc8'

551875

Institutional Source

Beutler Lab

Gene Symbol

Ttc8

Ensembl Gene

ENSMUSG00000021013

Gene Name

tetratricopeptide repeat domain 8

Synonyms

BBS8, 0610012F22Rik

MMRRC Submission

045208-MU

Accession Numbers

Essential gene?

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

Stock #

R7117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98886833-98949497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98942761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 434 (Y434H)

Ref Sequence

ENSEMBL: ENSMUSP00000078148 (fasta)

Gene Model

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

AlphaFold

Q8VD72

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079146
AA Change: Y434H

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078148
Gene: ENSMUSG00000021013
AA Change: Y434H

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

possibly damaging
Transcript: ENSMUST00000085109
AA Change: Y424H

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082190
Gene: ENSMUSG00000021013
AA Change: Y424H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (95/98)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,339,250 (GRCm39)	Y254C	probably benign	Het
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adam12	T	C	7: 133,518,191 (GRCm39)	I650V	probably benign	Het
Adam39	G	T	8: 41,279,279 (GRCm39)	G557C	probably damaging	Het
Ak5	A	G	3: 152,321,493 (GRCm39)		probably null	Het
Arhgef10l	C	T	4: 140,291,497 (GRCm39)		probably null	Het
Arhgef37	C	T	18: 61,637,481 (GRCm39)	E394K	probably benign	Het
Baz2b	A	G	2: 59,742,841 (GRCm39)	V13A		Het
Bnc1	G	T	7: 81,623,109 (GRCm39)	A706E	possibly damaging	Het
Bscl2	G	A	19: 8,825,878 (GRCm39)	A421T	possibly damaging	Het
Btn1a1	A	C	13: 23,643,415 (GRCm39)	W345G	possibly damaging	Het
C3	A	T	17: 57,519,655 (GRCm39)	M1199K	probably benign	Het
Ccdc18	T	G	5: 108,296,835 (GRCm39)	L213V	possibly damaging	Het
Cers2	T	C	3: 95,228,072 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,316,711 (GRCm39)	H249L	probably damaging	Het
Cited2	A	G	10: 17,600,364 (GRCm39)	E224G	possibly damaging	Het
Cntn5	T	A	9: 10,904,704 (GRCm39)		probably benign	Het
Col28a1	A	G	6: 8,013,122 (GRCm39)	S977P	possibly damaging	Het
Col6a1	T	C	10: 76,560,843 (GRCm39)	K52E	probably damaging	Het
Cpne2	T	A	8: 95,282,172 (GRCm39)	H239Q	probably damaging	Het
Cr2	A	T	1: 194,842,909 (GRCm39)	N244K	possibly damaging	Het
Csf2rb2	T	C	15: 78,169,385 (GRCm39)	D590G	probably damaging	Het
Defb25	A	C	2: 152,464,380 (GRCm39)	C55G	probably damaging	Het
Dnah7b	A	T	1: 46,391,973 (GRCm39)		probably null	Het
Dvl3	T	A	16: 20,346,072 (GRCm39)	Y467*	probably null	Het
Elapor2	T	A	5: 9,495,384 (GRCm39)	C729*	probably null	Het
Extl2	T	C	3: 115,821,088 (GRCm39)	S312P	probably damaging	Het
Fam178b	T	C	1: 36,639,548 (GRCm39)	T313A	probably benign	Het
Fam186b	A	G	15: 99,183,471 (GRCm39)	Y58H	probably damaging	Het
Fat1	A	T	8: 45,484,505 (GRCm39)	I3248L	probably damaging	Het
Fat2	A	G	11: 55,172,088 (GRCm39)	F2875S	probably damaging	Het
Flnb	T	A	14: 7,894,214 (GRCm38)	N760K	probably benign	Het
Galnt14	T	C	17: 73,801,190 (GRCm39)	H544R	probably benign	Het
Gpr137c	A	C	14: 45,516,484 (GRCm39)	R357S	probably damaging	Het
Grk2	A	G	19: 4,340,630 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,577,055 (GRCm39)	T342S	probably benign	Het
Hjv	G	T	3: 96,435,542 (GRCm39)	V267L	possibly damaging	Het
Ildr2	G	T	1: 166,123,380 (GRCm39)	G270C	probably damaging	Het
Insm2	C	A	12: 55,647,357 (GRCm39)	A367D	probably damaging	Het
Kcnh5	T	A	12: 75,161,219 (GRCm39)	I230F	possibly damaging	Het
Keg1	T	A	19: 12,687,042 (GRCm39)	S24T	probably damaging	Het
Kera	A	T	10: 97,448,714 (GRCm39)	E311D	probably benign	Het
Kit	T	A	5: 75,767,758 (GRCm39)	I47K	probably benign	Het
Megf6	A	G	4: 154,343,379 (GRCm39)	T663A	possibly damaging	Het
Mettl21c	G	A	1: 44,049,808 (GRCm39)	A79V	probably damaging	Het
Mfsd1	T	A	3: 67,507,391 (GRCm39)		probably null	Het
Mob3b	A	G	4: 34,985,914 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,356,926 (GRCm39)	H282L	probably benign	Het
Mtpap	T	C	18: 4,380,889 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,536,621 (GRCm39)	V365A	possibly damaging	Het
Muc5ac	T	A	7: 141,367,559 (GRCm39)	Y2993*	probably null	Het
Mycbp2	A	C	14: 103,391,513 (GRCm39)	F3422V	probably benign	Het
Ndufb7	T	A	8: 84,297,490 (GRCm39)	D48E	probably benign	Het
Nxpe5	A	G	5: 138,237,704 (GRCm39)	Y88C	probably damaging	Het
Or51a6	T	A	7: 102,604,185 (GRCm39)	M208L	probably benign	Het
Or5d3	A	G	2: 88,174,905 (GRCm39)	L64P	probably damaging	Het
Osbpl5	T	A	7: 143,263,520 (GRCm39)	D121V	probably benign	Het
Oxnad1	A	T	14: 31,813,608 (GRCm39)	H3L	probably benign	Het
Pam	C	A	1: 97,904,841 (GRCm39)		probably benign	Het
Papolg	T	C	11: 23,845,207 (GRCm39)		probably benign	Het
Pax1	G	A	2: 147,208,190 (GRCm39)	G266D	probably damaging	Het
Pde11a	A	T	2: 75,906,348 (GRCm39)	M623K	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Phf21a	A	T	2: 92,189,502 (GRCm39)	Q587L	probably benign	Het
Plcb3	A	G	19: 6,941,746 (GRCm39)	L336P	probably damaging	Het
Pnp2	T	C	14: 51,201,931 (GRCm39)	*306Q	probably null	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pramel32	T	A	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Prmt3	G	T	7: 49,467,843 (GRCm39)	A350S	probably benign	Het
Rac3	A	T	11: 120,614,343 (GRCm39)	R163*	probably null	Het
Raly	G	T	2: 154,699,432 (GRCm39)	V79L	probably benign	Het
Rbm20	A	T	19: 53,839,989 (GRCm39)	T993S	possibly damaging	Het
Rwdd3	A	G	3: 120,964,987 (GRCm39)	L56P	probably benign	Het
Serpina3a	C	T	12: 104,082,436 (GRCm39)	H70Y	possibly damaging	Het
Sez6l2	A	C	7: 126,552,915 (GRCm39)	E227A	possibly damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Slc35f6	T	C	5: 30,815,051 (GRCm39)	L326P	probably damaging	Het
Sox2	G	A	3: 34,705,075 (GRCm39)	G171S	possibly damaging	Het
Spef2	G	A	15: 9,729,924 (GRCm39)	R65C	probably damaging	Het
Spmap2	A	T	10: 79,420,741 (GRCm39)		probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tada2a	T	A	11: 83,976,514 (GRCm39)	I327F	probably damaging	Het
Tex2	A	G	11: 106,435,071 (GRCm39)	V785A	unknown	Het
Thada	C	A	17: 84,538,214 (GRCm39)		probably null	Het
Tmed1	G	A	9: 21,420,550 (GRCm39)	T94M	possibly damaging	Het
Tsr1	G	T	11: 74,790,360 (GRCm39)	M149I	probably benign	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ttn	G	T	2: 76,552,253 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,773,235 (GRCm39)	I2435T	unknown	Het
Uggt2	T	C	14: 119,251,938 (GRCm39)	I1174M	probably benign	Het
Unc13b	T	C	4: 43,216,544 (GRCm39)	I281T	probably benign	Het
Usp1	G	T	4: 98,817,127 (GRCm39)	K106N	possibly damaging	Het
Vwa3b	A	G	1: 37,174,634 (GRCm39)	D15G		Het
Zfp28	G	A	7: 6,397,461 (GRCm39)	C632Y	probably damaging	Het
Zfp68	T	C	5: 138,604,580 (GRCm39)	D581G	probably benign	Het
Zmynd10	A	C	9: 107,424,716 (GRCm39)	S21R	probably benign	Het
Zswim4	C	T	8: 84,940,681 (GRCm39)	R806H	probably damaging	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
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
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
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'- TGCCATGTAGCTAGGAAGTG -3'
(R):5'- GTGGGCTGTACATTATTCCCATC -3'

Sequencing Primer
(F):5'- CCATGTAGCTAGGAAGTGTTAGATGC -3'
(R):5'- AAGTCCAATGTCCAATTCTGGC -3'

Posted On

2019-05-15