Incidental Mutation 'R3125:Trim9'
| ID |
264255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim9
|
| Ensembl Gene |
ENSMUSG00000021071 |
| Gene Name |
tripartite motif-containing 9 |
| Synonyms |
C030048G07Rik |
| MMRRC Submission |
040598-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R3125 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70295167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 648
(G648R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110520]
[ENSMUST00000110522]
[ENSMUST00000222316]
[ENSMUST00000223160]
|
| AlphaFold |
Q8C7M3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110520
AA Change: G652R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: G652R
| 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 |
probably damaging
Transcript: ENSMUST00000110522
AA Change: G726R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: G726R
| 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 |
unknown
Transcript: ENSMUST00000221294
AA Change: G698R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222173
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222316
AA Change: G744R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223160
AA Change: G648R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223518
|
| Meta Mutation Damage Score |
0.8313 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
T |
6: 116,404,098 (GRCm39) |
|
probably null |
Het |
| Aoc1l1 |
A |
T |
6: 48,952,305 (GRCm39) |
I77F |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,769,210 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
T |
A |
4: 34,716,310 (GRCm39) |
H385L |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,327,085 (GRCm39) |
Y332C |
probably damaging |
Het |
| Dlx1 |
T |
A |
2: 71,362,740 (GRCm39) |
W216R |
probably damaging |
Het |
| Dna2 |
G |
A |
10: 62,784,981 (GRCm39) |
A33T |
possibly damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Fign |
T |
A |
2: 63,809,044 (GRCm39) |
Q742L |
possibly damaging |
Het |
| Hip1r |
A |
G |
5: 124,138,204 (GRCm39) |
D766G |
probably benign |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Htt |
T |
C |
5: 34,961,875 (GRCm39) |
S287P |
probably benign |
Het |
| Icam5 |
A |
G |
9: 20,947,954 (GRCm39) |
I617M |
probably benign |
Het |
| Ifi27l2b |
T |
C |
12: 103,417,594 (GRCm39) |
T198A |
unknown |
Het |
| Ip6k3 |
T |
C |
17: 27,376,516 (GRCm39) |
Y65C |
probably damaging |
Het |
| Kif15 |
A |
C |
9: 122,817,026 (GRCm39) |
Q542P |
probably damaging |
Het |
| Kit |
C |
T |
5: 75,808,488 (GRCm39) |
A744V |
probably null |
Het |
| Kit |
G |
T |
5: 75,808,487 (GRCm39) |
A744S |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,933,488 (GRCm39) |
I129T |
possibly damaging |
Het |
| Ltbp4 |
C |
T |
7: 27,027,203 (GRCm39) |
R389Q |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,593 (GRCm39) |
K726N |
probably benign |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Npb |
G |
A |
11: 120,499,728 (GRCm39) |
V103I |
possibly damaging |
Het |
| Or13a22 |
T |
C |
7: 140,072,764 (GRCm39) |
M71T |
probably benign |
Het |
| Or2y3 |
G |
A |
17: 38,392,903 (GRCm39) |
|
probably null |
Het |
| Plin2 |
G |
T |
4: 86,575,381 (GRCm39) |
Y389* |
probably null |
Het |
| Pnpla6 |
G |
T |
8: 3,584,670 (GRCm39) |
G763C |
probably null |
Het |
| Pnpla7 |
A |
G |
2: 24,932,150 (GRCm39) |
D935G |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,265,711 (GRCm39) |
S10G |
probably benign |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Serpina12 |
G |
A |
12: 104,004,242 (GRCm39) |
T130I |
probably benign |
Het |
| Slc6a18 |
A |
G |
13: 73,825,921 (GRCm39) |
F43S |
probably damaging |
Het |
| Stx6 |
C |
T |
1: 155,034,654 (GRCm39) |
P6S |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,747,208 (GRCm39) |
N1430I |
probably damaging |
Het |
| Trpm6 |
C |
G |
19: 18,831,795 (GRCm39) |
H1553Q |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
|
| Other mutations in Trim9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Trim9
|
APN |
12 |
70,393,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATACCAGCTTCCCTCACGGAG -3'
(R):5'- ACATGGGGCCAAGTTCAACC -3'
Sequencing Primer
(F):5'- CCCTGGGCAGACTTTGAAGTAG -3'
(R):5'- GGGCCAAGTTCAACCCTCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation