Mutagenetix > Incidental Mutation

Incidental Mutation 'R7174:Ttc8'

558506

Institutional Source

Beutler Lab

Gene Symbol

Ttc8

Ensembl Gene

ENSMUSG00000021013

Gene Name

tetratricopeptide repeat domain 8

Synonyms

BBS8, 0610012F22Rik

MMRRC Submission

045266-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.466) question?

Stock #

R7174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98886833-98949497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98940960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 323 (N323K)

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: N323K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078148
Gene: ENSMUSG00000021013
AA Change: N323K

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: N313K

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082190
Gene: ENSMUSG00000021013
AA Change: N313K

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	A	5: 144,981,627 (GRCm39)	A154E	probably benign	Het
Adamts1	C	A	16: 85,596,060 (GRCm39)	A419S	probably benign	Het
Arap2	C	G	5: 62,761,621 (GRCm39)	V1702L	probably benign	Het
Arpc1a	C	T	5: 145,034,087 (GRCm39)	P152S	probably benign	Het
Bbs10	T	A	10: 111,136,628 (GRCm39)	C580*	probably null	Het
Bcam	A	G	7: 19,499,376 (GRCm39)	Y216H	probably damaging	Het
C2cd3	T	C	7: 100,081,405 (GRCm39)	S1016P		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam5	T	A	7: 17,491,839 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,446,264 (GRCm39)	V666A	probably benign	Het
Cntn3	A	G	6: 102,142,305 (GRCm39)	F1021L	probably benign	Het
Cr1l	C	T	1: 194,811,497 (GRCm39)	G119D	probably benign	Het
Fgf10	A	T	13: 118,851,942 (GRCm39)	H8L	probably benign	Het
Fras1	T	A	5: 96,903,436 (GRCm39)		probably null	Het
Frem1	G	T	4: 82,840,493 (GRCm39)	T1811N	probably benign	Het
Fsd1	A	T	17: 56,298,356 (GRCm39)	Q227L	probably benign	Het
Galk2	A	G	2: 125,738,621 (GRCm39)	I138M	probably damaging	Het
Igkv8-30	A	G	6: 70,094,582 (GRCm39)	V7A	possibly damaging	Het
Katnb1	G	A	8: 95,824,069 (GRCm39)	A450T	probably benign	Het
Kif14	A	T	1: 136,448,995 (GRCm39)	E1465V	possibly damaging	Het
Klra3	A	T	6: 130,312,941 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lepr	A	G	4: 101,607,535 (GRCm39)	N251S	probably benign	Het
Lrp2	T	C	2: 69,263,416 (GRCm39)	M4379V	probably benign	Het
Lrriq1	T	C	10: 103,060,826 (GRCm39)	N92S	probably benign	Het
Map3k13	A	G	16: 21,745,006 (GRCm39)	N855S	probably damaging	Het
Marf1	T	A	16: 13,954,817 (GRCm39)	D900V	probably damaging	Het
Nckap5l	A	T	15: 99,321,884 (GRCm39)	M1087K	probably benign	Het
Nlrp9c	T	C	7: 26,084,722 (GRCm39)	N286D	probably benign	Het
Or12j4	T	C	7: 140,047,076 (GRCm39)	*321Q	probably null	Het
Or13c7d	C	T	4: 43,770,691 (GRCm39)	A107T	not run	Het
Or4k2	T	C	14: 50,424,153 (GRCm39)	I175V	probably benign	Het
Or51ah3	A	T	7: 103,210,598 (GRCm39)	R305*	probably null	Het
Or5g9	C	T	2: 85,552,297 (GRCm39)	P183S	possibly damaging	Het
Or5p72	T	A	7: 108,022,367 (GRCm39)	S196R	probably benign	Het
Pcdhga3	A	G	18: 37,808,980 (GRCm39)	T478A	probably benign	Het
Pdgfrb	T	C	18: 61,199,587 (GRCm39)	I385T	probably benign	Het
Poteg	C	T	8: 27,943,305 (GRCm39)	R192W	probably benign	Het
Prmt2	G	T	10: 76,061,173 (GRCm39)	D104E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rlbp1	T	C	7: 79,027,090 (GRCm39)	N190S	possibly damaging	Het
Ryr2	T	C	13: 11,816,063 (GRCm39)	D641G	possibly damaging	Het
Sh3gl1	A	T	17: 56,324,846 (GRCm39)	M303K	probably benign	Het
Slc26a5	A	G	5: 22,018,892 (GRCm39)	V649A	probably damaging	Het
Slco4c1	T	C	1: 96,765,323 (GRCm39)	N376D	possibly damaging	Het
Socs3	A	T	11: 117,858,553 (GRCm39)	Y168*	probably null	Het
Spata31d1d	A	T	13: 59,876,394 (GRCm39)	N380K	possibly damaging	Het
Speer1c	T	C	5: 10,295,237 (GRCm39)	K56E	probably damaging	Het
Ssbp3	A	G	4: 106,894,843 (GRCm39)	N254S	probably benign	Het
Stard10	C	T	7: 100,995,226 (GRCm39)	S326L	probably damaging	Het
Taf2	T	C	15: 54,912,135 (GRCm39)	D524G	possibly damaging	Het
Taf7	A	T	18: 37,776,053 (GRCm39)	S171R	probably damaging	Het
Tchh	C	T	3: 93,353,478 (GRCm39)	R973C	unknown	Het
Tmem67	T	C	4: 12,077,337 (GRCm39)	R172G	possibly damaging	Het
Top2a	C	A	11: 98,914,922 (GRCm39)		probably benign	Het
Txnl1	T	C	18: 63,804,667 (GRCm39)	N276D	probably benign	Het
Usp24	T	G	4: 106,219,878 (GRCm39)		probably null	Het
Vmn1r18	A	C	6: 57,366,609 (GRCm39)		probably null	Het
Vmn2r53	A	T	7: 12,315,628 (GRCm39)	H730Q	probably benign	Het
Wnk1	A	C	6: 119,947,939 (GRCm39)	I500M	probably damaging	Het
Zfp335	A	T	2: 164,744,423 (GRCm39)	Y451N	probably damaging	Het
Zfp683	T	A	4: 133,783,064 (GRCm39)	I176N	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
R7117:Ttc8	UTSW	12	98,942,761 (GRCm39)	missense	possibly damaging	0.63
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'- TGACCTTATGTCCCTCACTGAG -3'
(R):5'- CTGTGGCCTATGGAGAATGC -3'

Sequencing Primer
(F):5'- CTTACCGTCTAGAACAGAGTCTG -3'
(R):5'- GGCCTATGGAGAATGCATAATTTGTC -3'

Posted On

2019-06-26