Incidental Mutation 'R5649:Ttc29'
| ID |
441325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc29
|
| Ensembl Gene |
ENSMUSG00000037101 |
| Gene Name |
tetratricopeptide repeat domain 29 |
| Synonyms |
1700031F13Rik |
| MMRRC Submission |
043170-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5649 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
78939926-79120955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78972942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 131
(E131K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049395]
[ENSMUST00000109902]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049395
AA Change: E131K
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041919
Gene: ENSMUSG00000037101
AA Change: E131K
| 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 |
possibly damaging
Transcript: ENSMUST00000109902
AA Change: E131K
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105528
Gene: ENSMUSG00000037101
AA Change: E131K
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,330,501 (GRCm39) |
T1385A |
probably damaging |
Het |
| Apc2 |
T |
A |
10: 80,149,972 (GRCm39) |
D1646E |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
| Atl3 |
C |
A |
19: 7,509,592 (GRCm39) |
T435N |
possibly damaging |
Het |
| Cdh22 |
G |
T |
2: 164,958,200 (GRCm39) |
T589K |
probably damaging |
Het |
| Cnot3 |
T |
C |
7: 3,661,082 (GRCm39) |
L561S |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,841,468 (GRCm39) |
D363G |
unknown |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,229 (GRCm39) |
D105G |
possibly damaging |
Het |
| Dennd4a |
C |
A |
9: 64,758,491 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 31,019,561 (GRCm39) |
K3878R |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,894,539 (GRCm39) |
S1900P |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,008,736 (GRCm39) |
L167P |
probably damaging |
Het |
| Ighd2-8 |
A |
G |
12: 113,414,487 (GRCm39) |
S1P |
possibly damaging |
Het |
| Kif28 |
A |
G |
1: 179,525,336 (GRCm39) |
|
probably null |
Het |
| Mrpl55 |
T |
A |
11: 59,095,397 (GRCm39) |
C20* |
probably null |
Het |
| Myo5a |
A |
G |
9: 75,079,001 (GRCm39) |
K920E |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Olfm3 |
A |
G |
3: 114,890,573 (GRCm39) |
R76G |
probably damaging |
Het |
| Or14a258 |
T |
C |
7: 86,035,521 (GRCm39) |
M116V |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,373 (GRCm39) |
R172G |
possibly damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,155,468 (GRCm39) |
D729V |
probably benign |
Het |
| Phf11c |
T |
C |
14: 59,622,981 (GRCm39) |
|
probably null |
Het |
| Phf20 |
T |
A |
2: 156,093,688 (GRCm39) |
|
probably null |
Het |
| Plbd1 |
T |
A |
6: 136,593,987 (GRCm39) |
Y376F |
probably benign |
Het |
| Poglut1 |
A |
G |
16: 38,352,173 (GRCm39) |
V257A |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,106,623 (GRCm39) |
I3249T |
probably benign |
Het |
| Rgsl1 |
G |
A |
1: 153,701,639 (GRCm39) |
P272S |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,592,472 (GRCm39) |
Y197* |
probably null |
Het |
| Slc45a2 |
C |
T |
15: 11,012,693 (GRCm39) |
T232I |
probably benign |
Het |
| Ssc5d |
T |
A |
7: 4,929,517 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
T |
C |
17: 14,910,215 (GRCm39) |
Y128C |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,238,851 (GRCm39) |
L219F |
possibly damaging |
Het |
| Tmem30b |
G |
T |
12: 73,592,940 (GRCm39) |
N58K |
probably benign |
Het |
| Trappc2b |
T |
C |
11: 51,576,799 (GRCm39) |
E33G |
probably benign |
Het |
| Vmn1r29 |
C |
G |
6: 58,284,676 (GRCm39) |
S132C |
probably benign |
Het |
| Vmn1r53 |
G |
A |
6: 90,200,742 (GRCm39) |
A194V |
probably benign |
Het |
| Wdr86 |
A |
T |
5: 24,923,085 (GRCm39) |
H202Q |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,347,239 (GRCm39) |
D3160G |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,983,982 (GRCm39) |
D520G |
probably benign |
Het |
| Zfp607b |
T |
G |
7: 27,403,406 (GRCm39) |
C621G |
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 |
|
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 |
|
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 |
|
|
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'- AAATGGCTGGTGTTCTGCTC -3'
(R):5'- CTTGCAATGACATCTGCAGAATG -3'
Sequencing Primer
(F):5'- CATCTGCGTGGACATGCTG -3'
(R):5'- GACATCTGCAGAATGTCTTTGTAGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation