Incidental Mutation 'R6620:Ttc8'
| ID |
528140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc8
|
| Ensembl Gene |
ENSMUSG00000021013 |
| Gene Name |
tetratricopeptide repeat domain 8 |
| Synonyms |
BBS8, 0610012F22Rik |
| MMRRC Submission |
044743-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R6620 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98886833-98949497 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98923579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 212
(Y212H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079146]
[ENSMUST00000085109]
[ENSMUST00000132878]
|
| AlphaFold |
Q8VD72 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079146
AA Change: Y222H
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078148
Gene: ENSMUSG00000021013
AA Change: Y222H
| 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: Y212H
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082190
Gene: ENSMUSG00000021013
AA Change: Y212H
| 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 |
possibly damaging
Transcript: ENSMUST00000132878
AA Change: Y162H
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115828
Gene: ENSMUSG00000021013
AA Change: Y162H
| 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: ENSMUST00000223356
|
| Meta Mutation Damage Score |
0.0612 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
T |
3: 36,120,294 (GRCm39) |
A13S |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,992,674 (GRCm39) |
E4653K |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,149,401 (GRCm39) |
P1485L |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,851,902 (GRCm39) |
L397* |
probably null |
Het |
| Ces1e |
C |
A |
8: 93,950,546 (GRCm39) |
K79N |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,527,331 (GRCm39) |
I2666M |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,570,355 (GRCm39) |
N361I |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,815,125 (GRCm39) |
M1247I |
probably benign |
Het |
| Evi5l |
C |
A |
8: 4,256,674 (GRCm39) |
A720E |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,014,375 (GRCm39) |
F549L |
probably damaging |
Het |
| Gpx2 |
T |
C |
12: 76,839,674 (GRCm39) |
N108S |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,293,155 (GRCm39) |
|
probably null |
Het |
| Kcnj16 |
T |
C |
11: 110,915,473 (GRCm39) |
V45A |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,900,232 (GRCm39) |
L402P |
possibly damaging |
Het |
| Lct |
C |
A |
1: 128,222,809 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,112,888 (GRCm39) |
K106N |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,711,061 (GRCm39) |
I115F |
possibly damaging |
Het |
| Mapre2 |
T |
C |
18: 23,991,002 (GRCm39) |
V123A |
probably benign |
Het |
| Mtfr1l |
A |
G |
4: 134,256,394 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
A |
9: 39,934,225 (GRCm39) |
C179S |
probably damaging |
Het |
| Or4c99 |
A |
G |
2: 88,356,743 (GRCm39) |
Y272C |
probably damaging |
Het |
| Pbxip1 |
G |
A |
3: 89,355,133 (GRCm39) |
V551I |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,581 (GRCm39) |
I21T |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,518,601 (GRCm39) |
R296Q |
probably damaging |
Het |
| Psme2 |
A |
C |
14: 55,825,928 (GRCm39) |
D126E |
probably damaging |
Het |
| Psmg2 |
T |
C |
18: 67,774,807 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
T |
10: 58,291,629 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
C |
T |
14: 56,135,172 (GRCm39) |
R257H |
probably damaging |
Het |
| Sorbs2 |
G |
T |
8: 46,249,213 (GRCm39) |
R802S |
probably damaging |
Het |
| Spata31 |
A |
G |
13: 65,067,571 (GRCm39) |
N78D |
possibly damaging |
Het |
| Spatc1l |
A |
G |
10: 76,405,756 (GRCm39) |
D320G |
probably damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,822,082 (GRCm39) |
M253I |
probably benign |
Het |
| Zbed5 |
A |
G |
5: 129,932,130 (GRCm39) |
E693G |
possibly damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,638 (GRCm39) |
N622K |
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 |
|
|
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 |
|
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'- CATCTGGAAACTTGGGCAAC -3'
(R):5'- TCAGCACTGTCACGCGATTG -3'
Sequencing Primer
(F):5'- CTTGGGCAACATGAGTTTCTATC -3'
(R):5'- CTGTCACGCGATTGTTCAGAAACTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation