Incidental Mutation 'IGL00910:Trim9'
| ID |
28710 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim9
|
| Ensembl Gene |
ENSMUSG00000021071 |
| Gene Name |
tripartite motif-containing 9 |
| Synonyms |
C030048G07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
IGL00910
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70393887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 19
(E19G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110520]
[ENSMUST00000110522]
[ENSMUST00000167755]
[ENSMUST00000221041]
[ENSMUST00000221370]
[ENSMUST00000222316]
[ENSMUST00000223160]
|
| AlphaFold |
Q8C7M3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110520
AA Change: E19G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: E19G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
131 |
1.23e-4 |
SMART |
|
BBOX
|
163 |
212 |
2.84e-9 |
SMART |
|
BBOX
|
224 |
266 |
9.89e-9 |
SMART |
|
BBC
|
273 |
399 |
1.29e-38 |
SMART |
|
FN3
|
439 |
522 |
4.09e-7 |
SMART |
|
Pfam:SPRY
|
598 |
702 |
2.4e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110522
AA Change: E19G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: E19G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
131 |
1.23e-4 |
SMART |
|
BBOX
|
163 |
212 |
2.84e-9 |
SMART |
|
BBOX
|
224 |
266 |
9.89e-9 |
SMART |
|
BBC
|
273 |
399 |
1.29e-38 |
SMART |
|
FN3
|
439 |
522 |
4.09e-7 |
SMART |
|
low complexity region
|
591 |
605 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
674 |
776 |
1.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167755
AA Change: E19G
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127081
Gene: ENSMUSG00000021071
AA Change: E19G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
131 |
1.23e-4 |
SMART |
|
BBOX
|
163 |
212 |
2.84e-9 |
SMART |
|
BBOX
|
224 |
266 |
9.89e-9 |
SMART |
|
BBC
|
273 |
399 |
1.29e-38 |
SMART |
|
FN3
|
439 |
522 |
4.09e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221041
AA Change: E19G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221294
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221370
AA Change: E19G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222316
AA Change: E19G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223160
AA Change: E19G
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223521
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display increased axonal branching and increased corpus callosum thickness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
G |
15: 84,840,020 (GRCm39) |
L109P |
probably damaging |
Het |
| Aacs |
T |
A |
5: 125,585,772 (GRCm39) |
M316K |
probably benign |
Het |
| Adarb2 |
T |
C |
13: 8,722,469 (GRCm39) |
V375A |
probably damaging |
Het |
| Adgra2 |
C |
A |
8: 27,576,011 (GRCm39) |
A13E |
possibly damaging |
Het |
| Ankrd34c |
A |
T |
9: 89,611,079 (GRCm39) |
S421T |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,832,386 (GRCm39) |
M298L |
probably benign |
Het |
| Casq2 |
T |
C |
3: 102,017,547 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,406,395 (GRCm39) |
T762A |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,285,666 (GRCm39) |
V389A |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,105,889 (GRCm39) |
|
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,490,017 (GRCm39) |
F79L |
possibly damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,064,073 (GRCm39) |
I3T |
possibly damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,926,833 (GRCm39) |
I641T |
probably benign |
Het |
| Furin |
A |
G |
7: 80,040,744 (GRCm39) |
V698A |
probably benign |
Het |
| Lratd1 |
T |
C |
12: 14,200,527 (GRCm39) |
S67G |
probably benign |
Het |
| Prl2c5 |
G |
A |
13: 13,364,061 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,559,279 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,618,224 (GRCm39) |
|
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,722,728 (GRCm39) |
Y575C |
probably damaging |
Het |
| Tsfm |
G |
T |
10: 126,864,228 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trim9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01618:Trim9
|
APN |
12 |
70,295,125 (GRCm39) |
missense |
probably benign |
|
|
IGL01794:Trim9
|
APN |
12 |
70,328,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03101:Trim9
|
APN |
12 |
70,393,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Trim9
|
APN |
12 |
70,297,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
E0354:Trim9
|
UTSW |
12 |
70,319,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03098:Trim9
|
UTSW |
12 |
70,327,467 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0518:Trim9
|
UTSW |
12 |
70,393,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0622:Trim9
|
UTSW |
12 |
70,393,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0941:Trim9
|
UTSW |
12 |
70,295,037 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1022:Trim9
|
UTSW |
12 |
70,298,791 (GRCm39) |
splice site |
probably null |
|
|
R1024:Trim9
|
UTSW |
12 |
70,298,791 (GRCm39) |
splice site |
probably null |
|
|
R1204:Trim9
|
UTSW |
12 |
70,393,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Trim9
|
UTSW |
12 |
70,297,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Trim9
|
UTSW |
12 |
70,319,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1613:Trim9
|
UTSW |
12 |
70,295,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Trim9
|
UTSW |
12 |
70,301,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1665:Trim9
|
UTSW |
12 |
70,301,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1722:Trim9
|
UTSW |
12 |
70,295,148 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2097:Trim9
|
UTSW |
12 |
70,393,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3082:Trim9
|
UTSW |
12 |
70,301,887 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3123:Trim9
|
UTSW |
12 |
70,295,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3124:Trim9
|
UTSW |
12 |
70,295,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3125:Trim9
|
UTSW |
12 |
70,295,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Trim9
|
UTSW |
12 |
70,297,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4013:Trim9
|
UTSW |
12 |
70,393,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4017:Trim9
|
UTSW |
12 |
70,393,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4560:Trim9
|
UTSW |
12 |
70,393,892 (GRCm39) |
nonsense |
probably null |
|
|
R4734:Trim9
|
UTSW |
12 |
70,295,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Trim9
|
UTSW |
12 |
70,295,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Trim9
|
UTSW |
12 |
70,295,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Trim9
|
UTSW |
12 |
70,393,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Trim9
|
UTSW |
12 |
70,393,482 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5451:Trim9
|
UTSW |
12 |
70,393,603 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5471:Trim9
|
UTSW |
12 |
70,393,566 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6394:Trim9
|
UTSW |
12 |
70,301,987 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6901:Trim9
|
UTSW |
12 |
70,393,413 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7549:Trim9
|
UTSW |
12 |
70,393,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Trim9
|
UTSW |
12 |
70,295,117 (GRCm39) |
missense |
probably benign |
|
|
R7895:Trim9
|
UTSW |
12 |
70,301,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8003:Trim9
|
UTSW |
12 |
70,393,608 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8026:Trim9
|
UTSW |
12 |
70,337,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8223:Trim9
|
UTSW |
12 |
70,297,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8956:Trim9
|
UTSW |
12 |
70,393,665 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9017:Trim9
|
UTSW |
12 |
70,314,013 (GRCm39) |
missense |
probably benign |
|
|
R9475:Trim9
|
UTSW |
12 |
70,393,228 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Posted On |
2013-04-17 |
Incidental Mutation