Mutagenetix > Incidental Mutation

Incidental Mutation 'R7385:Ttc8'

573049

Institutional Source

Beutler Lab

Gene Symbol

Ttc8

Ensembl Gene

ENSMUSG00000021013

Gene Name

tetratricopeptide repeat domain 8

Synonyms

BBS8, 0610012F22Rik

MMRRC Submission

045467-MU

Accession Numbers

Essential gene?

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

Stock #

R7385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98886833-98949497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98908547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 72 (E72G)

Ref Sequence

ENSEMBL: ENSMUSP00000078148 (fasta)

Gene Model

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

AlphaFold

Q8VD72

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079146
AA Change: E72G

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078148
Gene: ENSMUSG00000021013
AA Change: E72G

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: E62G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082190
Gene: ENSMUSG00000021013
AA Change: E62G

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

possibly damaging
Transcript: ENSMUST00000132878
AA Change: E12G

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115828
Gene: ENSMUSG00000021013
AA Change: E12G

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	C	1: 179,580,946 (GRCm39)	E1752G	possibly damaging	Het
Aqp3	T	C	4: 41,095,178 (GRCm39)	T68A	probably damaging	Het
Arhgap40	A	G	2: 158,385,147 (GRCm39)	K463R	probably damaging	Het
Asb10	A	T	5: 24,738,736 (GRCm39)	C440*	probably null	Het
Bach1	A	G	16: 87,526,385 (GRCm39)	T616A	probably damaging	Het
Braf	T	A	6: 39,642,042 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,020,371 (GRCm39)	N803Y	probably damaging	Het
Cald1	A	G	6: 34,663,000 (GRCm39)	E21G	probably damaging	Het
Caskin1	G	T	17: 24,722,898 (GRCm39)	G589C	probably damaging	Het
Cdc37l1	T	C	19: 28,968,071 (GRCm39)		probably null	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col5a1	T	C	2: 27,914,762 (GRCm39)	L1615P	unknown	Het
Cpt1a	C	A	19: 3,430,155 (GRCm39)	P672T	probably damaging	Het
Defb22	A	G	2: 152,328,117 (GRCm39)	Y23H	probably damaging	Het
Depdc1b	G	C	13: 108,500,166 (GRCm39)	K226N	probably damaging	Het
Derl2	A	G	11: 70,909,764 (GRCm39)		probably benign	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dsg3	C	A	18: 20,673,254 (GRCm39)	T975K	possibly damaging	Het
Eif4enif1	T	A	11: 3,170,269 (GRCm39)	D107E	probably damaging	Het
Fut11	A	G	14: 20,746,325 (GRCm39)	D389G	probably damaging	Het
Gopc	C	T	10: 52,225,328 (GRCm39)	G299E	probably damaging	Het
Gprin1	T	C	13: 54,886,423 (GRCm39)	D617G	probably benign	Het
Grin2d	A	G	7: 45,506,960 (GRCm39)	V505A	probably damaging	Het
Heatr6	T	C	11: 83,650,161 (GRCm39)	Y206H	probably damaging	Het
Hhex	C	A	19: 37,425,713 (GRCm39)	N147K	probably damaging	Het
Igkv4-80	G	A	6: 68,993,699 (GRCm39)	S64F	probably damaging	Het
Jakmip3	A	G	7: 138,625,068 (GRCm39)	K360R	possibly damaging	Het
Kat5	AG	A	19: 5,658,297 (GRCm39)		probably null	Het
Kat5	T	A	19: 5,658,302 (GRCm39)	N191I	probably benign	Het
Kifc5b	A	G	17: 27,144,597 (GRCm39)	D572G	probably damaging	Het
Lrp5	C	A	19: 3,662,197 (GRCm39)		probably null	Het
Lrtm1	A	G	14: 28,749,673 (GRCm39)	M345V	probably benign	Het
Mbd5	T	C	2: 49,162,461 (GRCm39)	V981A	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mrgprd	A	G	7: 144,875,261 (GRCm39)	N44S	probably damaging	Het
Mrps10	C	A	17: 47,689,146 (GRCm39)	P181Q	probably damaging	Het
Myot	T	A	18: 44,470,075 (GRCm39)	C17*	probably null	Het
Myt1	A	G	2: 181,409,498 (GRCm39)		probably null	Het
Ncoa6	C	A	2: 155,249,721 (GRCm39)	L1194F	probably damaging	Het
Or4d11	T	C	19: 12,013,363 (GRCm39)	T248A	probably benign	Het
Or4d6	T	C	19: 12,086,061 (GRCm39)	N57S	probably damaging	Het
Or4e5	T	C	14: 52,727,638 (GRCm39)	Y261C	probably damaging	Het
Or7a39	C	A	10: 78,715,288 (GRCm39)	T94K	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Osbpl6	G	A	2: 76,379,794 (GRCm39)	G128E	probably damaging	Het
P3h3	A	T	6: 124,832,233 (GRCm39)	Y218N	probably damaging	Het
Paxip1	A	G	5: 27,986,418 (GRCm39)		probably null	Het
Pdia5	T	C	16: 35,250,284 (GRCm39)	Y225C	probably damaging	Het
Pik3c2g	T	G	6: 139,801,079 (GRCm39)	M526R		Het
Prox1	A	G	1: 189,894,323 (GRCm39)	F41L	probably benign	Het
Psd3	A	T	8: 68,453,408 (GRCm39)	F284I	probably damaging	Het
Rev3l	T	A	10: 39,699,678 (GRCm39)	C1392S	probably benign	Het
Rfxank	A	T	8: 70,587,285 (GRCm39)	V212E	probably damaging	Het
Ros1	T	C	10: 52,031,222 (GRCm39)	D482G	probably benign	Het
Sat2	A	T	11: 69,513,763 (GRCm39)	I94F	probably damaging	Het
Scarf2	T	C	16: 17,621,702 (GRCm39)	L384P	probably damaging	Het
Sec14l2	C	A	11: 4,066,750 (GRCm39)	E21*	probably null	Het
Slitrk5	T	A	14: 111,918,131 (GRCm39)	V585E	probably benign	Het
Spata31h1	T	A	10: 82,123,571 (GRCm39)	E3146D	probably benign	Het
Spata31h1	T	C	10: 82,123,729 (GRCm39)	S3094G	probably benign	Het
Tas2r130	T	A	6: 131,607,226 (GRCm39)	M190L	probably benign	Het
Ticrr	G	A	7: 79,341,597 (GRCm39)	S1061N	possibly damaging	Het
Tlr9	C	A	9: 106,102,463 (GRCm39)	H585N	probably damaging	Het
Tmem219	A	T	7: 126,495,947 (GRCm39)	I142N	probably damaging	Het
Tnni2	A	G	7: 141,996,915 (GRCm39)	N8S	probably benign	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Upf1	A	G	8: 70,793,268 (GRCm39)	Y297H	probably damaging	Het
Vmn1r4	A	G	6: 56,933,721 (GRCm39)	K75R	probably damaging	Het
Vmn2r78	G	A	7: 86,571,633 (GRCm39)	G481D	probably benign	Het
Vmn2r96	A	G	17: 18,803,302 (GRCm39)	Y404C	probably damaging	Het
Vps50	T	A	6: 3,602,708 (GRCm39)	S942T	probably benign	Het
Xkr7	C	A	2: 152,895,983 (GRCm39)	S279*	probably null	Het
Zan	G	A	5: 137,432,416 (GRCm39)	Q2294*	probably null	Het
Zan	T	C	5: 137,448,753 (GRCm39)	Y1700C	unknown	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
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'- AGGACTTCCTTGACATCAGGG -3'
(R):5'- GACCAGCAAGCCACCATATATTATG -3'

Sequencing Primer
(F):5'- CCTTGACATCAGGGTCCTG -3'
(R):5'- ATATTATGGCCATTCTCTGATACCAC -3'

Posted On

2019-09-13