Incidental Mutation 'IGL03184:Trim9'
| ID |
412396 |
| 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: 0.352)
|
| Stock # |
IGL03184
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70297995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 570
(D570G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110520]
[ENSMUST00000110522]
[ENSMUST00000222316]
[ENSMUST00000223160]
|
| AlphaFold |
Q8C7M3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110520
AA Change: D570G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: D570G
| 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: D644G
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: D644G
| 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: D616G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222173
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222316
AA Change: D644G
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223160
AA Change: D548G
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,471,570 (GRCm39) |
Y992H |
possibly damaging |
Het |
| Actmap |
A |
G |
7: 26,896,432 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
T |
A |
8: 89,035,271 (GRCm39) |
D58E |
probably benign |
Het |
| Aff2 |
G |
A |
X: 68,810,840 (GRCm39) |
V404M |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,780,830 (GRCm39) |
L1961M |
probably damaging |
Het |
| Brms1l |
T |
C |
12: 55,915,062 (GRCm39) |
*324Q |
probably null |
Het |
| Bub1b |
T |
C |
2: 118,440,258 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,548,501 (GRCm39) |
|
probably null |
Het |
| Clrn1 |
T |
A |
3: 58,753,645 (GRCm39) |
T239S |
probably benign |
Het |
| Clta |
T |
C |
4: 44,025,514 (GRCm39) |
Y145H |
probably benign |
Het |
| Coro6 |
T |
C |
11: 77,354,779 (GRCm39) |
V14A |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,316,216 (GRCm39) |
D314G |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,648,656 (GRCm39) |
N1418D |
probably benign |
Het |
| Fshr |
A |
C |
17: 89,354,068 (GRCm39) |
L97V |
possibly damaging |
Het |
| Gcm2 |
T |
C |
13: 41,258,888 (GRCm39) |
Q152R |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,041,660 (GRCm39) |
N273S |
probably benign |
Het |
| Gm11437 |
A |
T |
11: 84,047,090 (GRCm39) |
|
probably benign |
Het |
| Gm4559 |
A |
G |
7: 141,828,046 (GRCm39) |
S19P |
unknown |
Het |
| Igsf8 |
T |
G |
1: 172,146,199 (GRCm39) |
I462R |
probably damaging |
Het |
| Kirrel3 |
T |
C |
9: 34,919,052 (GRCm39) |
F243S |
probably damaging |
Het |
| Krt80 |
C |
T |
15: 101,250,135 (GRCm39) |
V37M |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,954,839 (GRCm39) |
Y1131H |
probably damaging |
Het |
| Mrpl21 |
T |
C |
19: 3,342,529 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,661,209 (GRCm39) |
N923S |
probably benign |
Het |
| Nectin2 |
G |
A |
7: 19,472,231 (GRCm39) |
P53S |
possibly damaging |
Het |
| Nup98 |
G |
A |
7: 101,832,752 (GRCm39) |
T335I |
probably damaging |
Het |
| Or2y1e |
C |
A |
11: 49,218,568 (GRCm39) |
T110K |
probably damaging |
Het |
| Or4a74 |
T |
C |
2: 89,439,912 (GRCm39) |
D178G |
probably damaging |
Het |
| Or4e5 |
A |
G |
14: 52,728,380 (GRCm39) |
S14P |
probably benign |
Het |
| Or51a42 |
T |
A |
7: 103,708,054 (GRCm39) |
I252F |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,910,627 (GRCm39) |
M116T |
possibly damaging |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,085 (GRCm39) |
E397G |
probably benign |
Het |
| Pcgf5 |
T |
G |
19: 36,412,076 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,764,457 (GRCm39) |
P1025L |
probably damaging |
Het |
| Pdcd1lg2 |
C |
A |
19: 29,431,911 (GRCm39) |
F226L |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,494,035 (GRCm39) |
S332R |
probably benign |
Het |
| Plek |
A |
T |
11: 16,931,887 (GRCm39) |
D321E |
probably benign |
Het |
| Pm20d2 |
A |
G |
4: 33,179,241 (GRCm39) |
F333L |
probably damaging |
Het |
| Polk |
T |
C |
13: 96,620,491 (GRCm39) |
T570A |
probably benign |
Het |
| Rpgrip1l |
G |
A |
8: 92,027,437 (GRCm39) |
L201F |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,452,607 (GRCm39) |
L395H |
probably damaging |
Het |
| Slc9c1 |
T |
G |
16: 45,368,003 (GRCm39) |
S197R |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,779,603 (GRCm39) |
E1264V |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,202,390 (GRCm39) |
D678G |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,188,556 (GRCm39) |
S851P |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,129,674 (GRCm39) |
|
probably benign |
Het |
| Tbck |
T |
C |
3: 132,441,864 (GRCm39) |
Y557H |
probably damaging |
Het |
| Tfap2d |
T |
C |
1: 19,189,110 (GRCm39) |
S219P |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,878,541 (GRCm39) |
Y655C |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,585,910 (GRCm39) |
T956S |
probably benign |
Het |
| Vmn1r68 |
T |
A |
7: 10,261,799 (GRCm39) |
I100F |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,631,734 (GRCm39) |
S2634T |
probably benign |
Het |
| Zfp472 |
T |
A |
17: 33,196,390 (GRCm39) |
L155* |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,317,381 (GRCm39) |
I43M |
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 |
|
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 |
2016-08-02 |
Incidental Mutation