Incidental Mutation 'IGL02487:Ttc27'
| ID |
295483 |
| 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 # |
IGL02487
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
75024730-75170565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75163549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 719
(Y719C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024882]
|
| AlphaFold |
Q8CD92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024882
AA Change: Y719C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: Y719C
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
T |
A |
11: 54,227,769 (GRCm39) |
I308N |
possibly damaging |
Het |
| Adal |
C |
T |
2: 120,985,877 (GRCm39) |
T204I |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,637,357 (GRCm39) |
F76S |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,260,916 (GRCm39) |
N1447I |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| B230217C12Rik |
A |
G |
11: 97,733,054 (GRCm39) |
N125S |
probably benign |
Het |
| Dcaf11 |
G |
T |
14: 55,806,571 (GRCm39) |
K457N |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,870,916 (GRCm39) |
V2348M |
possibly damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,930,689 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,394 (GRCm39) |
I96F |
probably damaging |
Het |
| Gm29253 |
T |
C |
1: 75,149,321 (GRCm39) |
|
probably null |
Het |
| Gvin-ps6 |
A |
G |
7: 106,022,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpm |
C |
A |
17: 33,867,787 (GRCm39) |
G676C |
probably damaging |
Het |
| Iah1 |
T |
C |
12: 21,371,440 (GRCm39) |
M185T |
probably damaging |
Het |
| Klc1 |
A |
T |
12: 111,738,886 (GRCm39) |
I45F |
probably damaging |
Het |
| Lce1h |
G |
A |
3: 92,671,048 (GRCm39) |
P35S |
unknown |
Het |
| Lrrc37a |
T |
C |
11: 103,386,863 (GRCm39) |
E2419G |
unknown |
Het |
| Lrrc8c |
T |
A |
5: 105,754,457 (GRCm39) |
S77R |
probably benign |
Het |
| Mcm3ap |
T |
A |
10: 76,343,389 (GRCm39) |
|
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Ntng1 |
A |
T |
3: 109,842,363 (GRCm39) |
S137T |
probably damaging |
Het |
| Odf2 |
C |
A |
2: 29,810,851 (GRCm39) |
A578E |
possibly damaging |
Het |
| Pecam1 |
G |
A |
11: 106,562,606 (GRCm39) |
T698I |
probably damaging |
Het |
| Pex10 |
A |
T |
4: 155,155,190 (GRCm39) |
H288L |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,322,822 (GRCm39) |
V36A |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,499,957 (GRCm39) |
*504W |
probably null |
Het |
| Rab42 |
A |
G |
4: 132,029,614 (GRCm39) |
S203P |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,288,698 (GRCm39) |
S192P |
probably damaging |
Het |
| Scap |
C |
T |
9: 110,207,758 (GRCm39) |
T489I |
probably benign |
Het |
| Sost |
C |
A |
11: 101,857,633 (GRCm39) |
R56L |
possibly damaging |
Het |
| Speer4a3 |
T |
A |
5: 26,156,605 (GRCm39) |
I125F |
probably benign |
Het |
| Spmip10 |
T |
A |
18: 56,727,571 (GRCm39) |
W90R |
possibly damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,118,522 (GRCm39) |
V264A |
probably damaging |
Het |
| Stx3 |
A |
G |
19: 11,760,469 (GRCm39) |
V236A |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,668,603 (GRCm39) |
F5S |
probably damaging |
Het |
| Thrap3 |
T |
C |
4: 126,060,794 (GRCm39) |
D855G |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,332,769 (GRCm39) |
V874A |
possibly damaging |
Het |
| Tmem26 |
A |
G |
10: 68,614,563 (GRCm39) |
E326G |
probably benign |
Het |
| Tsga13 |
A |
T |
6: 30,884,362 (GRCm39) |
Y119N |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,653,342 (GRCm39) |
T136I |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,065,500 (GRCm39) |
T425A |
probably benign |
Het |
| Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,792 (GRCm39) |
M238V |
probably damaging |
Het |
|
| Other mutations in Ttc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Ttc27
|
APN |
17 |
75,087,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation