Incidental Mutation 'I2288:Ttc12'
| ID |
7898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc12
|
| Ensembl Gene |
ENSMUSG00000040219 |
| Gene Name |
tetratricopeptide repeat domain 12 |
| Synonyms |
E330017O07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
I2288 (G3)
of strain
633
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
49348263-49397525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49381558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 138
(M138L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055096]
|
| AlphaFold |
Q8BW49 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055096
AA Change: M138L
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000056378
Gene: ENSMUSG00000040219
AA Change: M138L
| 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
|
| Meta Mutation Damage Score |
0.1127 |
| Coding Region Coverage |
|
| Validation Efficiency |
71% (138/195) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,174,677 (GRCm39) |
I696N |
probably damaging |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
| Alppl2 |
A |
T |
1: 87,015,898 (GRCm39) |
M284K |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,267,392 (GRCm39) |
V624A |
possibly damaging |
Het |
| Babam1 |
G |
A |
8: 71,850,467 (GRCm39) |
R32Q |
probably damaging |
Het |
| Camk1g |
C |
T |
1: 193,033,414 (GRCm39) |
|
probably benign |
Homo |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,492,959 (GRCm39) |
H1168R |
probably benign |
Het |
| Crkl |
A |
G |
16: 17,301,612 (GRCm39) |
T289A |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,972,669 (GRCm39) |
D1464G |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,309,077 (GRCm39) |
H1891Q |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,807,164 (GRCm39) |
A150T |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,882,428 (GRCm39) |
T667A |
probably benign |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,757 (GRCm39) |
L128Q |
probably damaging |
Het |
| Fxn |
C |
T |
19: 24,239,431 (GRCm39) |
|
probably benign |
Homo |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| Gramd1b |
T |
C |
9: 40,218,101 (GRCm39) |
I572V |
probably damaging |
Het |
| Iqch |
A |
T |
9: 63,408,172 (GRCm39) |
I664K |
probably benign |
Het |
| Kcnn2 |
T |
A |
18: 45,808,340 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,249,379 (GRCm39) |
E493G |
possibly damaging |
Homo |
| Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
| Or52d3 |
T |
C |
7: 104,229,593 (GRCm39) |
C247R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Homo |
| Or5w19 |
T |
A |
2: 87,698,479 (GRCm39) |
I48N |
probably damaging |
Het |
| Parvg |
C |
A |
15: 84,212,981 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,549,345 (GRCm39) |
V237A |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,477 (GRCm39) |
I143V |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,818 (GRCm39) |
T143A |
probably benign |
Het |
| Ttll9 |
A |
G |
2: 152,814,259 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,382,473 (GRCm39) |
|
probably benign |
Homo |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
|
| Other mutations in Ttc12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Ttc12
|
APN |
9 |
49,382,506 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
2012-11-13 |
Incidental Mutation