Mutagenetix > Incidental Mutation

Incidental Mutation 'R7447:Ttc8'

577380

Institutional Source

Beutler Lab

Gene Symbol

Ttc8

Ensembl Gene

ENSMUSG00000021013

Gene Name

tetratricopeptide repeat domain 8

Synonyms

BBS8, 0610012F22Rik

Accession Numbers

Essential gene?

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

Stock #

R7447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98886833-98949497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98910131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 179 (R179S)

Ref Sequence

ENSEMBL: ENSMUSP00000078148 (fasta)

Gene Model

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

AlphaFold

Q8VD72

Predicted Effect

probably damaging
Transcript: ENSMUST00000079146
AA Change: R179S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078148
Gene: ENSMUSG00000021013
AA Change: R179S

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: R169S

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082190
Gene: ENSMUSG00000021013
AA Change: R169S

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

probably damaging
Transcript: ENSMUST00000132878
AA Change: R119S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115828
Gene: ENSMUSG00000021013
AA Change: R119S

Domain	Start	End	E-Value	Type
SCOP:d1a17__	128	206	2e-5	SMART
Blast:TPR	165	198	8e-18	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	T	15: 76,479,396 (GRCm39)	I484F	possibly damaging	Het
Ago2	A	T	15: 73,009,881 (GRCm39)	N100K	probably benign	Het
Appl1	T	A	14: 26,681,409 (GRCm39)	K130*	probably null	Het
Arhgap39	G	A	15: 76,649,797 (GRCm39)		probably benign	Het
Axdnd1	A	G	1: 156,245,802 (GRCm39)		probably null	Het
Camta1	A	T	4: 151,168,327 (GRCm39)	V1332E	probably benign	Het
Cd3g	A	G	9: 44,884,857 (GRCm39)	L129P	probably damaging	Het
Cd80	T	G	16: 38,294,251 (GRCm39)	S45A	probably benign	Het
Cdk12	A	T	11: 98,136,106 (GRCm39)	Q1120L	unknown	Het
Clip1	G	A	5: 123,791,696 (GRCm39)	S158F	probably benign	Het
Cntn3	C	A	6: 102,255,416 (GRCm39)	E161*	probably null	Het
Cyp3a59	A	C	5: 146,024,215 (GRCm39)	K67T	probably benign	Het
Dmxl1	T	C	18: 49,997,681 (GRCm39)	L623P	probably damaging	Het
Drd3	T	A	16: 43,637,426 (GRCm39)	Y208*	probably null	Het
Dusp10	A	T	1: 183,801,153 (GRCm39)	M307L	probably benign	Het
Dync2li1	A	T	17: 84,955,141 (GRCm39)	I267L	possibly damaging	Het
Dynlt2b	T	A	16: 32,244,089 (GRCm39)	V95E	probably damaging	Het
Edn3	C	A	2: 174,603,544 (GRCm39)	C97*	probably null	Het
Ehbp1l1	T	A	19: 5,769,456 (GRCm39)	T616S	possibly damaging	Het
Eif2a	C	T	3: 58,452,963 (GRCm39)	T246I	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Errfi1	A	G	4: 150,951,108 (GRCm39)	T179A	probably damaging	Het
Esyt3	G	A	9: 99,203,615 (GRCm39)	L450F	probably damaging	Het
Evx2	A	G	2: 74,489,448 (GRCm39)	S106P	probably benign	Het
Fam83a	T	G	15: 57,873,086 (GRCm39)	V305G	probably benign	Het
Fem1al	T	C	11: 29,774,122 (GRCm39)	D445G	probably benign	Het
Gpr171	T	A	3: 59,005,860 (GRCm39)		probably null	Het
Grip1	A	G	10: 119,922,871 (GRCm39)	T1106A	probably benign	Het
Hecw1	A	G	13: 14,531,789 (GRCm39)	Y162H	probably damaging	Het
Hephl1	C	T	9: 15,009,178 (GRCm39)		probably null	Het
Hsp90aa1	A	G	12: 110,658,562 (GRCm39)	I693T	possibly damaging	Het
Ifit1bl2	T	A	19: 34,596,974 (GRCm39)	D214V	probably damaging	Het
Igsf10	T	C	3: 59,239,222 (GRCm39)	M320V	probably benign	Het
Kcnq2	A	G	2: 180,754,887 (GRCm39)	L220P	probably damaging	Het
Kpna1	C	A	16: 35,850,009 (GRCm39)	Q372K	probably damaging	Het
Lilrb4a	T	G	10: 51,367,149 (GRCm39)		probably null	Het
Ly75	C	A	2: 60,164,818 (GRCm39)	E787*	probably null	Het
Magi1	T	G	6: 93,722,562 (GRCm39)	S666R	possibly damaging	Het
Mif	C	A	10: 75,695,687 (GRCm39)	A39S	possibly damaging	Het
Mob4	G	A	1: 55,170,625 (GRCm39)		probably benign	Het
Mtmr4	G	T	11: 87,502,727 (GRCm39)	C927F	probably damaging	Het
Myh1	A	G	11: 67,110,006 (GRCm39)	K1398R	probably benign	Het
Myo3a	T	C	2: 22,436,464 (GRCm39)	V873A	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Nckap5l	G	A	15: 99,325,357 (GRCm39)	P382L	probably damaging	Het
Ngly1	T	C	14: 16,290,844 (GRCm38)	I442T	probably damaging	Het
Nhsl3	C	A	4: 129,115,835 (GRCm39)	R988L	possibly damaging	Het
Nlrp1a	T	C	11: 70,983,237 (GRCm39)	Y1243C	probably damaging	Het
Or8k53	T	A	2: 86,177,150 (GRCm39)	H320L	possibly damaging	Het
Pcsk5	C	T	19: 17,487,600 (GRCm39)	G1027D	probably benign	Het
Pla2g2c	T	A	4: 138,458,927 (GRCm39)	I11N	probably benign	Het
Polr3d	A	G	14: 70,677,240 (GRCm39)	I331T	probably damaging	Het
Ppp4r4	A	G	12: 103,551,985 (GRCm39)	I293M	possibly damaging	Het
Prkce	G	T	17: 86,866,687 (GRCm39)	V516F	probably damaging	Het
Prss27	T	A	17: 24,264,683 (GRCm39)	L282Q	probably damaging	Het
Pxdn	A	G	12: 30,034,926 (GRCm39)	Y261C	probably damaging	Het
R3hcc1l	T	C	19: 42,551,101 (GRCm39)	S33P	probably benign	Het
Rab11fip3	G	C	17: 26,287,848 (GRCm39)	R102G	possibly damaging	Het
Rabggta	A	T	14: 55,956,773 (GRCm39)	N310K	probably null	Het
Rbbp8	T	A	18: 11,793,934 (GRCm39)	D15E	probably benign	Het
Rbm5	T	C	9: 107,623,378 (GRCm39)	Y486C	probably damaging	Het
Rptor	T	A	11: 119,775,805 (GRCm39)	F992Y	probably benign	Het
Slc29a2	T	G	19: 5,076,445 (GRCm39)	L111R	probably damaging	Het
Slc39a11	T	A	11: 113,452,849 (GRCm39)	I31L	probably benign	Het
Slc6a20a	T	A	9: 123,485,289 (GRCm39)	N311I	possibly damaging	Het
Slc8a1	A	G	17: 81,956,435 (GRCm39)	F201S	probably damaging	Het
Smtn	C	A	11: 3,480,196 (GRCm39)	V342L	probably benign	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tchp	A	G	5: 114,853,716 (GRCm39)	T267A	probably benign	Het
Tes3-ps	A	G	13: 49,647,508 (GRCm39)	E128G	possibly damaging	Het
Tigar	C	T	6: 127,065,129 (GRCm39)	G173E	probably benign	Het
Tmem171	T	C	13: 98,824,862 (GRCm39)	N256S	probably benign	Het
Tmem204	A	G	17: 25,277,270 (GRCm39)	I205T	probably damaging	Het
Tmem63a	A	G	1: 180,785,588 (GRCm39)	K240R	probably benign	Het
Tns2	C	T	15: 102,019,351 (GRCm39)	T446M	probably damaging	Het
Tnxb	A	T	17: 34,937,444 (GRCm39)	N2931I	probably damaging	Het
Trrap	G	T	5: 144,776,284 (GRCm39)	R2941L	probably damaging	Het
Ttll12	G	T	15: 83,471,176 (GRCm39)	T234N	probably damaging	Het
Ttn	G	T	2: 76,577,576 (GRCm39)	T24439K	probably damaging	Het
Ube2z	A	T	11: 95,946,736 (GRCm39)	I246N	possibly damaging	Het
Usp15	A	G	10: 123,011,786 (GRCm39)	Y104H	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Usp5	G	A	6: 124,798,077 (GRCm39)	A436V	probably damaging	Het
Utp20	A	G	10: 88,608,354 (GRCm39)	L1561S	probably damaging	Het
Xrn1	A	G	9: 95,927,547 (GRCm39)	M1444V	probably benign	Het
Zfp236	G	T	18: 82,651,815 (GRCm39)	Q885K	probably damaging	Het
Zfp831	C	A	2: 174,487,896 (GRCm39)	P857Q	possibly 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
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
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'- AACTTTCCCAGAACCTCGTATTACC -3'
(R):5'- TGTGCTTGCTTCTGGTCAAC -3'

Sequencing Primer
(F):5'- ACCCAAGTAACTTTATGCTTCTCTAG -3'
(R):5'- CTGGTCAACTGTACTTAATTCAAGAC -3'

Posted On

2019-10-07