Incidental Mutation 'IGL00422:Ttc27'
ID |
5746 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttc27
|
Ensembl Gene |
ENSMUSG00000024078 |
Gene Name |
tetratricopeptide repeat domain 27 |
Synonyms |
2610511O17Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
IGL00422
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
75024730-75170565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75087811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 459
(C459S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
AlphaFold |
Q8CD92 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024882
AA Change: C459S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024882 Gene: ENSMUSG00000024078 AA Change: C459S
Domain | Start | End | E-Value | Type |
TPR
|
531 |
564 |
7.34e-3 |
SMART |
TPR
|
565 |
598 |
5.56e-3 |
SMART |
TPR
|
599 |
632 |
3.81e-1 |
SMART |
Blast:TPR
|
633 |
666 |
7e-15 |
BLAST |
coiled coil region
|
817 |
847 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
Cln8 |
G |
A |
8: 14,946,637 (GRCm39) |
C217Y |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
Fads3 |
T |
G |
19: 10,033,045 (GRCm39) |
F328V |
possibly damaging |
Het |
Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
Hoxd12 |
G |
A |
2: 74,505,771 (GRCm39) |
R114Q |
probably damaging |
Het |
Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
Map3k10 |
T |
C |
7: 27,367,894 (GRCm39) |
D248G |
probably damaging |
Het |
Mat2b |
C |
A |
11: 40,578,565 (GRCm39) |
G41C |
probably damaging |
Het |
Mfsd4a |
T |
C |
1: 131,968,332 (GRCm39) |
I369V |
probably benign |
Het |
Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
Rad17 |
A |
T |
13: 100,766,033 (GRCm39) |
I365K |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,766,031 (GRCm39) |
S366T |
probably damaging |
Het |
Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
Slco1a6 |
A |
C |
6: 142,106,743 (GRCm39) |
C15G |
probably benign |
Het |
Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
Zcchc7 |
A |
T |
4: 44,931,318 (GRCm39) |
H490L |
possibly damaging |
Het |
|
Other mutations in Ttc27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01508:Ttc27
|
APN |
17 |
75,142,352 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02010:Ttc27
|
APN |
17 |
75,087,906 (GRCm39) |
splice site |
probably benign |
|
IGL02189:Ttc27
|
APN |
17 |
75,036,894 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02487:Ttc27
|
APN |
17 |
75,163,549 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02745:Ttc27
|
APN |
17 |
75,046,728 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02816:Ttc27
|
APN |
17 |
75,054,769 (GRCm39) |
splice site |
probably benign |
|
IGL03389:Ttc27
|
APN |
17 |
75,165,028 (GRCm39) |
missense |
probably benign |
0.00 |
R0024:Ttc27
|
UTSW |
17 |
75,077,259 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0511:Ttc27
|
UTSW |
17 |
75,025,710 (GRCm39) |
missense |
probably benign |
0.22 |
R0518:Ttc27
|
UTSW |
17 |
75,163,544 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0521:Ttc27
|
UTSW |
17 |
75,163,544 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0633:Ttc27
|
UTSW |
17 |
75,036,972 (GRCm39) |
missense |
probably benign |
0.02 |
R1415:Ttc27
|
UTSW |
17 |
75,046,667 (GRCm39) |
missense |
probably benign |
|
R1597:Ttc27
|
UTSW |
17 |
75,170,402 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1961:Ttc27
|
UTSW |
17 |
75,087,851 (GRCm39) |
missense |
probably damaging |
0.99 |
R2038:Ttc27
|
UTSW |
17 |
75,163,497 (GRCm39) |
missense |
probably benign |
0.00 |
R3012:Ttc27
|
UTSW |
17 |
75,147,454 (GRCm39) |
missense |
probably benign |
0.17 |
R3619:Ttc27
|
UTSW |
17 |
75,058,123 (GRCm39) |
splice site |
probably null |
|
R4155:Ttc27
|
UTSW |
17 |
75,147,455 (GRCm39) |
missense |
probably benign |
0.09 |
R4272:Ttc27
|
UTSW |
17 |
75,147,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Ttc27
|
UTSW |
17 |
75,163,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R4557:Ttc27
|
UTSW |
17 |
75,136,544 (GRCm39) |
missense |
probably benign |
0.00 |
R5068:Ttc27
|
UTSW |
17 |
75,106,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R5069:Ttc27
|
UTSW |
17 |
75,106,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R5070:Ttc27
|
UTSW |
17 |
75,106,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R5074:Ttc27
|
UTSW |
17 |
75,054,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R5169:Ttc27
|
UTSW |
17 |
75,054,690 (GRCm39) |
nonsense |
probably null |
|
R5203:Ttc27
|
UTSW |
17 |
75,084,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5272:Ttc27
|
UTSW |
17 |
75,049,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Ttc27
|
UTSW |
17 |
75,165,086 (GRCm39) |
missense |
probably damaging |
0.99 |
R6797:Ttc27
|
UTSW |
17 |
75,036,883 (GRCm39) |
missense |
probably benign |
0.28 |
R6830:Ttc27
|
UTSW |
17 |
75,163,550 (GRCm39) |
nonsense |
probably null |
|
R6987:Ttc27
|
UTSW |
17 |
75,084,736 (GRCm39) |
critical splice donor site |
probably null |
|
R7121:Ttc27
|
UTSW |
17 |
75,054,710 (GRCm39) |
missense |
probably benign |
0.04 |
R7393:Ttc27
|
UTSW |
17 |
75,077,259 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7543:Ttc27
|
UTSW |
17 |
75,024,745 (GRCm39) |
start gained |
probably benign |
|
R7635:Ttc27
|
UTSW |
17 |
75,025,710 (GRCm39) |
missense |
probably benign |
0.22 |
R8231:Ttc27
|
UTSW |
17 |
75,024,959 (GRCm39) |
missense |
probably benign |
0.19 |
R8365:Ttc27
|
UTSW |
17 |
75,054,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R8464:Ttc27
|
UTSW |
17 |
75,024,925 (GRCm39) |
missense |
probably benign |
|
R8493:Ttc27
|
UTSW |
17 |
75,050,047 (GRCm39) |
critical splice donor site |
probably null |
|
R8687:Ttc27
|
UTSW |
17 |
75,046,679 (GRCm39) |
missense |
probably benign |
0.00 |
X0026:Ttc27
|
UTSW |
17 |
75,163,432 (GRCm39) |
missense |
probably benign |
0.19 |
|
Posted On |
2012-04-20 |