Incidental Mutation 'R1214:Ttc29'
| ID |
99525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc29
|
| Ensembl Gene |
ENSMUSG00000037101 |
| Gene Name |
tetratricopeptide repeat domain 29 |
| Synonyms |
1700031F13Rik |
| MMRRC Submission |
039283-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R1214 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
78939926-79120955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79052211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 364
(Y364C)
|
| 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: Y364C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041919
Gene: ENSMUSG00000037101
AA Change: Y364C
| 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: Y364C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105528
Gene: ENSMUSG00000037101
AA Change: Y364C
| 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: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Dcdc2c |
A |
T |
12: 28,580,429 (GRCm39) |
Y201* |
probably null |
Het |
| Dock9 |
C |
T |
14: 121,823,728 (GRCm39) |
V1395I |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,697,396 (GRCm39) |
S652G |
probably damaging |
Het |
| Or1j13 |
G |
T |
2: 36,369,981 (GRCm39) |
H54N |
possibly damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,314,237 (GRCm39) |
F154S |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,280,987 (GRCm39) |
S643C |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,019,981 (GRCm39) |
I530F |
probably damaging |
Het |
| Slfn5 |
A |
G |
11: 82,850,917 (GRCm39) |
M405V |
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,953,140 (GRCm39) |
V100A |
possibly damaging |
Het |
| Wasf3 |
G |
A |
5: 146,407,098 (GRCm39) |
V473M |
probably damaging |
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 |
|
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 |
|
R4892:Ttc29
|
UTSW |
8 |
79,060,274 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AGCTTTAGCTCATTGCATACCCCAC -3'
(R):5'- TCAGAGCAAGCTGATAAGAGCCAAC -3'
Sequencing Primer
(F):5'- AGCTTATGCCAGGTCTAACG -3'
(R):5'- CCTCACAGTCAGTTACTGAATGG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation