Incidental Mutation 'IGL00326:Ttc12'
| ID |
6176 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc12
|
| Ensembl Gene |
ENSMUSG00000040219 |
| Gene Name |
tetratricopeptide repeat domain 12 |
| Synonyms |
E330017O07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL00326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
49348263-49397525 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 49382506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055096]
|
| AlphaFold |
Q8BW49 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055096
|
| SMART Domains |
Protein: ENSMUSP00000056378
Gene: ENSMUSG00000040219
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
102 |
N/A |
INTRINSIC |
|
TPR
|
105 |
138 |
9.39e-1 |
SMART |
|
TPR
|
139 |
172 |
1.97e-3 |
SMART |
|
TPR
|
173 |
206 |
1.09e-5 |
SMART |
|
low complexity region
|
356 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
613 |
N/A |
INTRINSIC |
|
Blast:ARM
|
634 |
675 |
1e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146666
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
G |
T |
4: 62,461,981 (GRCm39) |
|
probably null |
Het |
| 9230109A22Rik |
G |
T |
15: 25,139,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acd |
A |
T |
8: 106,425,086 (GRCm39) |
Y378N |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,112,560 (GRCm39) |
V709A |
probably benign |
Het |
| Axl |
A |
T |
7: 25,485,324 (GRCm39) |
L168H |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Drd3 |
G |
A |
16: 43,582,684 (GRCm39) |
R59H |
probably benign |
Het |
| Erlec1 |
T |
C |
11: 30,898,510 (GRCm39) |
N180S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,388,828 (GRCm39) |
S634R |
probably benign |
Het |
| Focad |
A |
T |
4: 88,275,711 (GRCm39) |
T1107S |
unknown |
Het |
| Galnt11 |
T |
C |
5: 25,453,829 (GRCm39) |
|
probably benign |
Het |
| Gigyf1 |
C |
T |
5: 137,517,210 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,274,316 (GRCm39) |
T353A |
probably benign |
Het |
| H2bc3 |
G |
T |
13: 23,931,111 (GRCm39) |
V112L |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Igkv6-13 |
A |
T |
6: 70,434,645 (GRCm39) |
S67T |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,387,936 (GRCm39) |
T824A |
probably damaging |
Het |
| Kansl1 |
A |
G |
11: 104,315,292 (GRCm39) |
S249P |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,858,611 (GRCm39) |
A86T |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,813,363 (GRCm39) |
A77V |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,895,780 (GRCm39) |
S289C |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,179 (GRCm39) |
S219T |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,665,495 (GRCm39) |
V140A |
probably benign |
Het |
| Pear1 |
C |
T |
3: 87,659,423 (GRCm39) |
V804I |
possibly damaging |
Het |
| Rgs11 |
T |
A |
17: 26,426,371 (GRCm39) |
I230N |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,315,017 (GRCm39) |
L22Q |
possibly damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,755,766 (GRCm39) |
V44A |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,319 (GRCm39) |
|
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,113,591 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
G |
A |
11: 50,960,190 (GRCm39) |
E132K |
probably benign |
Het |
|
| Other mutations in Ttc12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01300:Ttc12
|
APN |
9 |
49,359,222 (GRCm39) |
splice site |
probably benign |
|
|
IGL02100:Ttc12
|
APN |
9 |
49,351,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03106:Ttc12
|
APN |
9 |
49,369,362 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
I2288:Ttc12
|
UTSW |
9 |
49,381,558 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1238:Ttc12
|
UTSW |
9 |
49,369,487 (GRCm39) |
splice site |
probably benign |
|
|
R1712:Ttc12
|
UTSW |
9 |
49,356,499 (GRCm39) |
missense |
probably benign |
|
|
R1725:Ttc12
|
UTSW |
9 |
49,369,415 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1824:Ttc12
|
UTSW |
9 |
49,368,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Ttc12
|
UTSW |
9 |
49,371,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2226:Ttc12
|
UTSW |
9 |
49,353,135 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4498:Ttc12
|
UTSW |
9 |
49,383,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Ttc12
|
UTSW |
9 |
49,364,633 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6020:Ttc12
|
UTSW |
9 |
49,354,422 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6687:Ttc12
|
UTSW |
9 |
49,349,718 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6755:Ttc12
|
UTSW |
9 |
49,364,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6975:Ttc12
|
UTSW |
9 |
49,349,718 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7349:Ttc12
|
UTSW |
9 |
49,359,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7357:Ttc12
|
UTSW |
9 |
49,349,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7451:Ttc12
|
UTSW |
9 |
49,383,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7725:Ttc12
|
UTSW |
9 |
49,351,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7842:Ttc12
|
UTSW |
9 |
49,349,724 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7943:Ttc12
|
UTSW |
9 |
49,381,620 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8029:Ttc12
|
UTSW |
9 |
49,381,551 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8862:Ttc12
|
UTSW |
9 |
49,351,515 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8965:Ttc12
|
UTSW |
9 |
49,349,718 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9116:Ttc12
|
UTSW |
9 |
49,364,757 (GRCm39) |
missense |
probably benign |
|
|
R9342:Ttc12
|
UTSW |
9 |
49,351,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9762:Ttc12
|
UTSW |
9 |
49,368,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation