Incidental Mutation 'IGL03098:Trim9'
ID |
452986 |
Institutional Source |
Beutler Lab
|
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 # |
IGL03098 (G1)
|
Quality Score |
104 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70327467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 390
(I390T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152147
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110520]
[ENSMUST00000110522]
[ENSMUST00000167755]
[ENSMUST00000221041]
[ENSMUST00000221370]
[ENSMUST00000223160]
[ENSMUST00000222316]
|
AlphaFold |
Q8C7M3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110520
AA Change: I390T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106149 Gene: ENSMUSG00000021071 AA Change: I390T
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: I390T
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106151 Gene: ENSMUSG00000021071 AA Change: I390T
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 |
possibly damaging
Transcript: ENSMUST00000167755
AA Change: I390T
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127081 Gene: ENSMUSG00000021071 AA Change: I390T
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 |
possibly damaging
Transcript: ENSMUST00000221041
AA Change: I390T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000221294
AA Change: I363T
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221370
AA Change: I390T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223160
AA Change: I390T
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222316
AA Change: I390T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222603
|
Meta Mutation Damage Score |
0.5329 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
92% (44/48) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Abca15 |
T |
C |
7: 119,987,499 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,019,038 (GRCm39) |
Q173R |
probably null |
Het |
Arhgef19 |
A |
G |
4: 140,974,879 (GRCm39) |
D113G |
possibly damaging |
Het |
Btbd6 |
A |
G |
12: 112,942,038 (GRCm39) |
E501G |
probably damaging |
Het |
Btnl2 |
T |
C |
17: 34,584,190 (GRCm39) |
V371A |
probably benign |
Het |
Cd84 |
G |
T |
1: 171,700,267 (GRCm39) |
R128L |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Dsg3 |
A |
T |
18: 20,643,422 (GRCm39) |
|
probably benign |
Het |
Efnb2 |
A |
T |
8: 8,713,420 (GRCm39) |
|
probably benign |
Het |
Fam24b |
T |
C |
7: 130,927,977 (GRCm39) |
S71G |
probably benign |
Het |
Flacc1 |
G |
T |
1: 58,730,908 (GRCm39) |
H49Q |
probably benign |
Het |
Hgd |
G |
A |
16: 37,436,607 (GRCm39) |
C180Y |
probably benign |
Het |
Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Kcmf1 |
A |
T |
6: 72,826,567 (GRCm39) |
M1K |
probably null |
Het |
Letm2 |
T |
A |
8: 26,071,745 (GRCm39) |
T386S |
possibly damaging |
Het |
Lvrn |
A |
T |
18: 47,014,477 (GRCm39) |
|
probably null |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nid2 |
G |
A |
14: 19,856,006 (GRCm39) |
D1244N |
probably damaging |
Het |
Nvl |
G |
T |
1: 180,921,471 (GRCm39) |
Q843K |
probably benign |
Het |
Obi1 |
T |
C |
14: 104,716,253 (GRCm39) |
I707V |
possibly damaging |
Het |
Or1e30 |
T |
G |
11: 73,678,529 (GRCm39) |
I255S |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,143,891 (GRCm39) |
I726N |
probably damaging |
Het |
Rab25 |
A |
T |
3: 88,449,567 (GRCm39) |
C209S |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 83,032,150 (GRCm39) |
I21F |
probably damaging |
Het |
Rnf10 |
T |
C |
5: 115,410,426 (GRCm39) |
D16G |
probably damaging |
Het |
Rnmt |
G |
A |
18: 68,439,073 (GRCm39) |
V61M |
probably damaging |
Het |
Rrs1 |
GCTC |
GC |
1: 9,616,328 (GRCm39) |
|
probably null |
Het |
Scd4 |
A |
T |
19: 44,321,931 (GRCm39) |
M1L |
possibly damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
G |
12: 76,668,273 (GRCm39) |
I608T |
probably damaging |
Het |
Sstr5 |
A |
G |
17: 25,710,251 (GRCm39) |
V326A |
probably benign |
Het |
Sugct |
T |
C |
13: 17,846,321 (GRCm39) |
D62G |
probably damaging |
Het |
Thada |
C |
G |
17: 84,641,569 (GRCm39) |
D1306H |
possibly damaging |
Het |
Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
Tra2a |
G |
A |
6: 49,225,969 (GRCm39) |
S157L |
probably damaging |
Het |
Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,228,230 (GRCm39) |
V765A |
probably benign |
Het |
Wdr90 |
C |
A |
17: 26,078,961 (GRCm39) |
|
probably benign |
Het |
Ybey |
A |
T |
10: 76,304,078 (GRCm39) |
C41* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTACAACCTTCATCACGGG -3'
(R):5'- ACTGTGGGCCACTCTAGTCATG -3'
Sequencing Primer
(F):5'- ATCACGGGGTCATCCACAGTATTG -3'
(R):5'- GGCCACTCTAGTCATGCCACAG -3'
|
Posted On |
2017-01-24 |