Incidental Mutation 'IGL02656:Trim12c'
| ID |
302328 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim12c
|
| Ensembl Gene |
ENSMUSG00000057143 |
| Gene Name |
tripartite motif-containing 12C |
| Synonyms |
Trim12-2, 9230105E10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL02656
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103987961-104002569 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103990410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 356
(V356I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059037]
[ENSMUST00000106847]
[ENSMUST00000130139]
[ENSMUST00000180136]
|
| AlphaFold |
D3Z3L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059037
AA Change: V356I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060100
Gene: ENSMUSG00000057143
AA Change: V356I
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
5.51e-7 |
SMART |
|
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
351 |
493 |
8.7e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106847
|
| SMART Domains |
Protein: ENSMUSP00000102460
Gene: ENSMUSG00000090215
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
7.8e-7 |
SMART |
|
ZnF_RBZ
|
31 |
61 |
5.96e-1 |
SMART |
|
BBOX
|
91 |
132 |
2.15e-9 |
SMART |
|
low complexity region
|
195 |
209 |
N/A |
INTRINSIC |
|
Blast:PRY
|
299 |
343 |
3e-21 |
BLAST |
|
Pfam:SPRY
|
347 |
474 |
7.8e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130139
AA Change: V356I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116775
Gene: ENSMUSG00000057143
AA Change: V356I
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
5.51e-7 |
SMART |
|
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180136
|
| SMART Domains |
Protein: ENSMUSP00000136926
Gene: ENSMUSG00000090215
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
7.8e-7 |
SMART |
|
ZnF_RBZ
|
31 |
61 |
5.96e-1 |
SMART |
|
BBOX
|
91 |
132 |
2.15e-9 |
SMART |
|
low complexity region
|
195 |
209 |
N/A |
INTRINSIC |
|
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
|
Pfam:SPRY
|
345 |
484 |
3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184402
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
G |
T |
14: 31,424,197 (GRCm39) |
A981D |
possibly damaging |
Het |
| Ccdc69 |
G |
T |
11: 54,943,263 (GRCm39) |
Q114K |
possibly damaging |
Het |
| Cct5 |
A |
T |
15: 31,597,576 (GRCm39) |
D66E |
probably damaging |
Het |
| Ces2e |
G |
T |
8: 105,653,688 (GRCm39) |
R42I |
possibly damaging |
Het |
| Cib2 |
T |
G |
9: 54,453,182 (GRCm39) |
D178A |
probably damaging |
Het |
| Cldn7 |
G |
A |
11: 69,857,834 (GRCm39) |
V97I |
probably benign |
Het |
| Dok3 |
A |
T |
13: 55,676,293 (GRCm39) |
I12N |
probably damaging |
Het |
| Fndc5 |
T |
A |
4: 129,033,239 (GRCm39) |
V102E |
probably damaging |
Het |
| Gas2 |
T |
C |
7: 51,593,492 (GRCm39) |
S191P |
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,588,821 (GRCm39) |
|
probably null |
Het |
| Krt18 |
A |
G |
15: 101,939,357 (GRCm39) |
T277A |
probably benign |
Het |
| Mpp3 |
A |
G |
11: 101,899,427 (GRCm39) |
S365P |
probably benign |
Het |
| Msmo1 |
T |
C |
8: 65,180,906 (GRCm39) |
T3A |
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,778,865 (GRCm39) |
F111S |
probably damaging |
Het |
| Or4e2 |
G |
T |
14: 52,688,166 (GRCm39) |
A99S |
possibly damaging |
Het |
| Or8g18 |
T |
A |
9: 39,149,456 (GRCm39) |
E88V |
probably benign |
Het |
| Pex19 |
C |
A |
1: 171,958,252 (GRCm39) |
A77E |
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,501,676 (GRCm39) |
D620G |
probably damaging |
Het |
| Prr5 |
A |
G |
15: 84,583,337 (GRCm39) |
D105G |
probably damaging |
Het |
| Rab12 |
T |
A |
17: 66,813,049 (GRCm39) |
K88M |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,806,401 (GRCm39) |
V673A |
probably damaging |
Het |
| Rps26 |
A |
G |
10: 128,461,126 (GRCm39) |
S88P |
possibly damaging |
Het |
| Sema5a |
T |
A |
15: 32,631,431 (GRCm39) |
S605T |
possibly damaging |
Het |
| Slc35a4 |
T |
C |
18: 36,815,500 (GRCm39) |
M110T |
probably damaging |
Het |
| Sowahb |
T |
C |
5: 93,191,106 (GRCm39) |
S538G |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,297,938 (GRCm39) |
|
probably benign |
Het |
| Ssbp2 |
G |
A |
13: 91,817,871 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
C |
T |
3: 54,615,816 (GRCm39) |
R236W |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,534,640 (GRCm39) |
D1791G |
probably damaging |
Het |
| Tgm6 |
G |
A |
2: 129,987,023 (GRCm39) |
G497D |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,641,716 (GRCm39) |
I814K |
probably benign |
Het |
|
| Other mutations in Trim12c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01612:Trim12c
|
APN |
7 |
103,997,422 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01645:Trim12c
|
APN |
7 |
103,994,261 (GRCm39) |
nonsense |
probably null |
|
|
IGL01737:Trim12c
|
APN |
7 |
103,997,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02184:Trim12c
|
APN |
7 |
103,997,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02309:Trim12c
|
APN |
7 |
103,994,163 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02323:Trim12c
|
APN |
7 |
103,997,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0127:Trim12c
|
UTSW |
7 |
103,990,113 (GRCm39) |
splice site |
probably null |
|
|
R0554:Trim12c
|
UTSW |
7 |
103,994,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1480:Trim12c
|
UTSW |
7 |
103,997,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Trim12c
|
UTSW |
7 |
103,990,095 (GRCm39) |
unclassified |
probably benign |
|
|
R2058:Trim12c
|
UTSW |
7 |
103,997,398 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2059:Trim12c
|
UTSW |
7 |
103,997,398 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3838:Trim12c
|
UTSW |
7 |
103,990,075 (GRCm39) |
unclassified |
probably benign |
|
|
R3870:Trim12c
|
UTSW |
7 |
103,997,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4896:Trim12c
|
UTSW |
7 |
103,990,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6288:Trim12c
|
UTSW |
7 |
103,995,936 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6522:Trim12c
|
UTSW |
7 |
103,997,531 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6562:Trim12c
|
UTSW |
7 |
103,994,341 (GRCm39) |
splice site |
probably null |
|
|
R6801:Trim12c
|
UTSW |
7 |
103,997,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Trim12c
|
UTSW |
7 |
103,997,413 (GRCm39) |
missense |
|
|
|
R7811:Trim12c
|
UTSW |
7 |
103,990,469 (GRCm39) |
missense |
unknown |
|
|
R8076:Trim12c
|
UTSW |
7 |
103,990,037 (GRCm39) |
missense |
unknown |
|
|
R8147:Trim12c
|
UTSW |
7 |
103,991,165 (GRCm39) |
missense |
unknown |
|
|
R8680:Trim12c
|
UTSW |
7 |
103,997,271 (GRCm39) |
missense |
|
|
|
R9295:Trim12c
|
UTSW |
7 |
103,990,391 (GRCm39) |
missense |
unknown |
|
|
R9296:Trim12c
|
UTSW |
7 |
103,994,185 (GRCm39) |
missense |
|
|
|
X0062:Trim12c
|
UTSW |
7 |
103,995,887 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1176:Trim12c
|
UTSW |
7 |
103,990,343 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation