Incidental Mutation 'IGL01612:Trim12c'
| ID |
92147 |
| 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 # |
IGL01612
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103987961-104002569 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103997422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 45
(S45T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059037]
[ENSMUST00000130139]
|
| AlphaFold |
D3Z3L3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059037
AA Change: S45T
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060100
Gene: ENSMUSG00000057143
AA Change: S45T
| 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 |
possibly damaging
Transcript: ENSMUST00000130139
AA Change: S45T
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116775
Gene: ENSMUSG00000057143
AA Change: S45T
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,988 (GRCm39) |
T1326A |
possibly damaging |
Het |
| Afg3l1 |
C |
T |
8: 124,221,592 (GRCm39) |
R484C |
probably benign |
Het |
| Atg2a |
C |
A |
19: 6,302,514 (GRCm39) |
Q946K |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,921,895 (GRCm39) |
Y731H |
probably benign |
Het |
| Cdk15 |
A |
G |
1: 59,328,932 (GRCm39) |
D282G |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 31,005,164 (GRCm39) |
S1073P |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,355,889 (GRCm39) |
|
probably benign |
Het |
| Evi2a |
T |
A |
11: 79,417,978 (GRCm39) |
R211W |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,661,168 (GRCm39) |
I372F |
probably benign |
Het |
| Glyctk |
T |
C |
9: 106,032,471 (GRCm39) |
D514G |
probably damaging |
Het |
| Gmnc |
G |
A |
16: 26,779,069 (GRCm39) |
Q313* |
probably null |
Het |
| Grik1 |
T |
C |
16: 87,743,623 (GRCm39) |
T520A |
probably damaging |
Het |
| Gtsf2 |
A |
T |
15: 103,353,340 (GRCm39) |
C9S |
probably damaging |
Het |
| Ift80 |
T |
G |
3: 68,870,996 (GRCm39) |
N200T |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,742,047 (GRCm39) |
S1771P |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,683,484 (GRCm39) |
T2769A |
possibly damaging |
Het |
| Lrfn2 |
G |
T |
17: 49,377,425 (GRCm39) |
V169L |
possibly damaging |
Het |
| Mei1 |
G |
A |
15: 81,973,753 (GRCm39) |
R80H |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,473,746 (GRCm39) |
V31E |
probably damaging |
Het |
| Ncapd2 |
G |
T |
6: 125,154,835 (GRCm39) |
P546T |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,829,929 (GRCm39) |
V212A |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,390,052 (GRCm39) |
|
probably benign |
Het |
| Rab3b |
T |
A |
4: 108,781,223 (GRCm39) |
|
probably null |
Het |
| Rabl2 |
T |
C |
15: 89,467,615 (GRCm39) |
K119E |
probably benign |
Het |
| Reln |
A |
G |
5: 22,101,928 (GRCm39) |
V3334A |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,601 (GRCm39) |
|
probably null |
Het |
| Rhod |
T |
C |
19: 4,476,247 (GRCm39) |
Y168C |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,733,071 (GRCm39) |
I13T |
probably damaging |
Het |
| Sat2 |
T |
C |
11: 69,513,789 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
T |
9: 119,315,091 (GRCm39) |
D1872E |
possibly damaging |
Het |
| Sh2b2 |
T |
G |
5: 136,260,656 (GRCm39) |
I187L |
probably benign |
Het |
| Slit3 |
G |
A |
11: 35,591,211 (GRCm39) |
G1341D |
possibly damaging |
Het |
| Tmed11 |
A |
T |
5: 108,927,750 (GRCm39) |
S95T |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,733 (GRCm39) |
V176A |
possibly damaging |
Het |
| Ube4b |
C |
A |
4: 149,468,275 (GRCm39) |
R167L |
probably damaging |
Het |
| Zfp335 |
A |
T |
2: 164,752,540 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Trim12c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02656:Trim12c
|
APN |
7 |
103,990,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation