Incidental Mutation 'IGL01618:Trim9'
ID |
92461 |
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 # |
IGL01618
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70295125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 662
(V662I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110520]
[ENSMUST00000110522]
[ENSMUST00000222316]
[ENSMUST00000223160]
|
AlphaFold |
Q8C7M3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110520
AA Change: V666I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106149 Gene: ENSMUSG00000021071 AA Change: V666I
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 benign
Transcript: ENSMUST00000110522
AA Change: V740I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106151 Gene: ENSMUSG00000021071 AA Change: V740I
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: V712I
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222173
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222316
AA Change: V758I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223160
AA Change: V662I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223518
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
C |
T |
19: 55,261,265 (GRCm39) |
A74V |
probably benign |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Aldh1a3 |
G |
A |
7: 66,058,978 (GRCm39) |
T239I |
probably damaging |
Het |
Anxa9 |
A |
G |
3: 95,207,847 (GRCm39) |
|
probably null |
Het |
Atp5me |
C |
A |
5: 108,581,899 (GRCm39) |
K28N |
probably damaging |
Het |
C9 |
T |
G |
15: 6,489,149 (GRCm39) |
Y169D |
probably benign |
Het |
Chat |
T |
A |
14: 32,168,849 (GRCm39) |
|
probably null |
Het |
Csmd3 |
C |
T |
15: 47,874,479 (GRCm39) |
E706K |
probably benign |
Het |
Ctbs |
A |
G |
3: 146,160,867 (GRCm39) |
K145E |
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,533,302 (GRCm39) |
M156T |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,101,756 (GRCm39) |
Y1275C |
probably damaging |
Het |
Dpp10 |
A |
T |
1: 123,295,596 (GRCm39) |
F517Y |
probably benign |
Het |
Dst |
G |
A |
1: 34,227,990 (GRCm39) |
W1536* |
probably null |
Het |
Galc |
T |
C |
12: 98,218,340 (GRCm39) |
T171A |
possibly damaging |
Het |
Gsap |
T |
C |
5: 21,431,246 (GRCm39) |
I190T |
probably damaging |
Het |
Hars2 |
A |
T |
18: 36,922,630 (GRCm39) |
R388* |
probably null |
Het |
Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
Itgbl1 |
T |
A |
14: 124,065,211 (GRCm39) |
S122T |
possibly damaging |
Het |
Jhy |
G |
T |
9: 40,872,260 (GRCm39) |
T83K |
possibly damaging |
Het |
Kcne4 |
A |
T |
1: 78,795,525 (GRCm39) |
M58L |
possibly damaging |
Het |
Lamc3 |
T |
A |
2: 31,802,119 (GRCm39) |
I509N |
probably damaging |
Het |
Lpar6 |
T |
C |
14: 73,476,506 (GRCm39) |
S156P |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,048,840 (GRCm39) |
|
probably benign |
Het |
Marchf11 |
T |
C |
15: 26,409,285 (GRCm39) |
I328T |
possibly damaging |
Het |
Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,577,001 (GRCm39) |
Q2167L |
unknown |
Het |
Myom1 |
T |
C |
17: 71,406,988 (GRCm39) |
V1135A |
possibly damaging |
Het |
Nectin1 |
C |
T |
9: 43,702,555 (GRCm39) |
R101* |
probably null |
Het |
Nxpe4 |
T |
C |
9: 48,305,440 (GRCm39) |
S277P |
possibly damaging |
Het |
Or1e35 |
T |
C |
11: 73,798,303 (GRCm39) |
N5S |
probably damaging |
Het |
Or2a52 |
T |
A |
6: 43,144,637 (GRCm39) |
V215E |
probably damaging |
Het |
Or52r1c |
G |
A |
7: 102,735,582 (GRCm39) |
V281I |
probably benign |
Het |
Or5b106 |
T |
A |
19: 13,123,614 (GRCm39) |
K136N |
probably benign |
Het |
Or5w19 |
A |
C |
2: 87,698,488 (GRCm39) |
D51A |
probably damaging |
Het |
Pappa2 |
G |
T |
1: 158,684,948 (GRCm39) |
N730K |
probably damaging |
Het |
Prepl |
A |
G |
17: 85,373,709 (GRCm39) |
V586A |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,368,529 (GRCm39) |
Y2098C |
probably damaging |
Het |
Rdh16 |
G |
A |
10: 127,637,176 (GRCm39) |
C37Y |
probably damaging |
Het |
Rnd1 |
A |
T |
15: 98,571,746 (GRCm39) |
M100K |
probably benign |
Het |
Sema3c |
A |
G |
5: 17,877,504 (GRCm39) |
N204D |
probably damaging |
Het |
Susd4 |
A |
G |
1: 182,686,026 (GRCm39) |
|
probably null |
Het |
Taar7f |
G |
T |
10: 23,926,239 (GRCm39) |
A278S |
possibly damaging |
Het |
Tle4 |
T |
A |
19: 14,522,178 (GRCm39) |
M122L |
probably benign |
Het |
Vmn2r10 |
C |
A |
5: 109,150,345 (GRCm39) |
C233F |
probably damaging |
Het |
Vmn2r98 |
A |
C |
17: 19,285,521 (GRCm39) |
T114P |
possibly damaging |
Het |
Zfyve21 |
C |
T |
12: 111,794,247 (GRCm39) |
|
probably benign |
Het |
Zng1 |
T |
C |
19: 24,918,140 (GRCm39) |
E210G |
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 |
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 |
2013-12-09 |