Incidental Mutation 'R6687:Ttc12'
| ID |
527831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc12
|
| Ensembl Gene |
ENSMUSG00000040219 |
| Gene Name |
tetratricopeptide repeat domain 12 |
| Synonyms |
E330017O07Rik |
| MMRRC Submission |
044805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
49348263-49397525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49349718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 693
(V693A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055096]
|
| AlphaFold |
Q8BW49 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055096
AA Change: V693A
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000056378
Gene: ENSMUSG00000040219
AA Change: V693A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,777,927 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,034,842 (GRCm39) |
F180S |
probably benign |
Het |
| Cfd |
G |
A |
10: 79,727,553 (GRCm39) |
V77M |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
| Fam3c |
G |
C |
6: 22,328,669 (GRCm39) |
P53A |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,574,619 (GRCm39) |
N302D |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
| Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
| Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
| Lrrc14b |
T |
C |
13: 74,508,881 (GRCm39) |
M509V |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
| Mettl18 |
A |
G |
1: 163,824,369 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
| Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
| Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
| Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
| Wnt3 |
G |
T |
11: 103,703,411 (GRCm39) |
R298L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGCAGACATCCAGTTTTG -3'
(R):5'- ACACTGAGTGTTCCCAGTATTGTG -3'
Sequencing Primer
(F):5'- gtgtgCTCACAGGCTTTT -3'
(R):5'- TGTGGGTTCCCCTAGAGTCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation