Incidental Mutation 'R4892:Ttc29'
| ID |
377345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc29
|
| Ensembl Gene |
ENSMUSG00000037101 |
| Gene Name |
tetratricopeptide repeat domain 29 |
| Synonyms |
1700031F13Rik |
| MMRRC Submission |
042497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
78939926-79120955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79060274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 398
(V398A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049395]
[ENSMUST00000109902]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049395
AA Change: V398A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041919
Gene: ENSMUSG00000037101
AA Change: V398A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
189 |
199 |
N/A |
INTRINSIC |
|
Blast:TPR
|
234 |
267 |
2e-7 |
BLAST |
|
TPR
|
274 |
307 |
4.1e1 |
SMART |
|
TPR
|
314 |
347 |
2.48e0 |
SMART |
|
TPR
|
354 |
387 |
2.48e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109902
AA Change: V398A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105528
Gene: ENSMUSG00000037101
AA Change: V398A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
189 |
199 |
N/A |
INTRINSIC |
|
Blast:TPR
|
234 |
267 |
2e-7 |
BLAST |
|
TPR
|
274 |
307 |
4.1e1 |
SMART |
|
TPR
|
314 |
347 |
2.48e0 |
SMART |
|
TPR
|
354 |
387 |
2.48e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,236,431 (GRCm39) |
T1128A |
probably benign |
Het |
| Apol11a |
A |
T |
15: 77,401,190 (GRCm39) |
K226* |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,411,899 (GRCm39) |
M45V |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,696 (GRCm39) |
M263K |
probably benign |
Het |
| Capn11 |
GACA |
GA |
17: 45,944,023 (GRCm39) |
|
probably null |
Het |
| Ccdc190 |
C |
A |
1: 169,757,678 (GRCm39) |
L46I |
possibly damaging |
Het |
| Cep131 |
C |
T |
11: 119,958,883 (GRCm39) |
R717H |
probably damaging |
Het |
| Cpt1c |
A |
G |
7: 44,609,012 (GRCm39) |
F770L |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,924 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
A |
2: 180,316,822 (GRCm39) |
Q662* |
probably null |
Het |
| Dip2a |
T |
C |
10: 76,116,593 (GRCm39) |
E910G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fmo3 |
T |
A |
1: 162,796,300 (GRCm39) |
I91F |
probably benign |
Het |
| Gdap1 |
A |
C |
1: 17,230,218 (GRCm39) |
D217A |
possibly damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,331 (GRCm39) |
S766G |
possibly damaging |
Het |
| Kat8 |
T |
A |
7: 127,514,710 (GRCm39) |
I123N |
possibly damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,440,763 (GRCm39) |
S23* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,704,244 (GRCm39) |
T432I |
probably damaging |
Het |
| Lgals9 |
T |
A |
11: 78,856,909 (GRCm39) |
I223L |
probably benign |
Het |
| Mpo |
T |
A |
11: 87,693,507 (GRCm39) |
N48K |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,731,525 (GRCm39) |
H632Q |
probably damaging |
Het |
| Or2y1c |
C |
A |
11: 49,361,043 (GRCm39) |
Q22K |
probably benign |
Het |
| Or9s27 |
A |
G |
1: 92,516,643 (GRCm39) |
N197S |
probably benign |
Het |
| Prelid2 |
A |
G |
18: 42,084,209 (GRCm39) |
F11S |
possibly damaging |
Het |
| Setd1a |
G |
T |
7: 127,377,696 (GRCm39) |
V57L |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,431 (GRCm39) |
D704G |
probably damaging |
Het |
| Spryd3 |
T |
C |
15: 102,026,537 (GRCm39) |
E378G |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,810,770 (GRCm39) |
Y112N |
probably damaging |
Het |
| Syndig1 |
A |
T |
2: 149,741,811 (GRCm39) |
K132N |
probably damaging |
Het |
| Tcf20 |
C |
T |
15: 82,738,400 (GRCm39) |
R1017Q |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,896 (GRCm39) |
D1370V |
probably damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,769,134 (GRCm39) |
T308I |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,155,828 (GRCm39) |
T2218A |
probably benign |
Het |
|
| Other mutations in Ttc29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:Ttc29
|
APN |
8 |
79,060,385 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01785:Ttc29
|
APN |
8 |
79,008,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Ttc29
|
APN |
8 |
79,003,569 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03068:Ttc29
|
APN |
8 |
79,052,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4519001:Ttc29
|
UTSW |
8 |
79,052,106 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0523:Ttc29
|
UTSW |
8 |
79,003,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1214:Ttc29
|
UTSW |
8 |
79,052,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Ttc29
|
UTSW |
8 |
79,009,014 (GRCm39) |
missense |
probably benign |
|
|
R1902:Ttc29
|
UTSW |
8 |
78,978,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1903:Ttc29
|
UTSW |
8 |
78,978,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4612:Ttc29
|
UTSW |
8 |
79,052,175 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4649:Ttc29
|
UTSW |
8 |
79,060,208 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5306:Ttc29
|
UTSW |
8 |
78,978,539 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5649:Ttc29
|
UTSW |
8 |
78,972,942 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5996:Ttc29
|
UTSW |
8 |
79,003,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6036:Ttc29
|
UTSW |
8 |
79,052,205 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6036:Ttc29
|
UTSW |
8 |
79,052,205 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6495:Ttc29
|
UTSW |
8 |
79,008,963 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6813:Ttc29
|
UTSW |
8 |
79,060,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6961:Ttc29
|
UTSW |
8 |
79,003,545 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7686:Ttc29
|
UTSW |
8 |
79,119,759 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8714:Ttc29
|
UTSW |
8 |
79,060,331 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8962:Ttc29
|
UTSW |
8 |
79,042,336 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9420:Ttc29
|
UTSW |
8 |
79,060,390 (GRCm39) |
missense |
probably benign |
|
|
R9676:Ttc29
|
UTSW |
8 |
79,060,384 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9691:Ttc29
|
UTSW |
8 |
78,972,895 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCCCTTCTCACAGAAAG -3'
(R):5'- CTAAAGCGTTTCCGGAAGCC -3'
Sequencing Primer
(F):5'- ATGCTCCTCAGAAATGCGTG -3'
(R):5'- CGAAGCCTTACCTAGAATCGGGTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation