Incidental Mutation 'IGL02534:Trim32'
| ID |
297440 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim32
|
| Ensembl Gene |
ENSMUSG00000051675 |
| Gene Name |
tripartite motif-containing 32 |
| Synonyms |
3f3, Zfp117, 1810045E12Rik, BBS11 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
IGL02534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
65523223-65534475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65532906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 488
(T488A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050850]
[ENSMUST00000068214]
[ENSMUST00000084496]
[ENSMUST00000107366]
[ENSMUST00000155978]
[ENSMUST00000156922]
|
| AlphaFold |
Q8CH72 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050850
AA Change: T488A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000062277
Gene: ENSMUSG00000051675
AA Change: T488A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
21 |
65 |
8.61e-9 |
SMART |
|
BBOX
|
96 |
139 |
3.44e-8 |
SMART |
|
low complexity region
|
253 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
471 |
498 |
6.9e-7 |
PFAM |
|
Pfam:NHL
|
618 |
645 |
4.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068214
|
| SMART Domains |
Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
127 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
437 |
N/A |
INTRINSIC |
|
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
|
EGF_like
|
526 |
563 |
2.92e1 |
SMART |
|
Blast:EGF_like
|
667 |
708 |
2e-18 |
BLAST |
|
EGF_like
|
715 |
764 |
4.03e1 |
SMART |
|
MACPF
|
864 |
1048 |
2.88e-55 |
SMART |
|
FN3
|
1079 |
1191 |
2.41e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084496
|
| SMART Domains |
Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
127 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
385 |
N/A |
INTRINSIC |
|
transmembrane domain
|
391 |
413 |
N/A |
INTRINSIC |
|
EGF_like
|
474 |
511 |
2.92e1 |
SMART |
|
Blast:EGF_like
|
615 |
656 |
2e-18 |
BLAST |
|
EGF_like
|
663 |
712 |
4.03e1 |
SMART |
|
MACPF
|
812 |
996 |
2.88e-55 |
SMART |
|
FN3
|
1027 |
1139 |
2.41e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107366
AA Change: T488A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102989
Gene: ENSMUSG00000051675
AA Change: T488A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
21 |
65 |
8.61e-9 |
SMART |
|
BBOX
|
96 |
139 |
3.44e-8 |
SMART |
|
low complexity region
|
253 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
373 |
400 |
3.6e-7 |
PFAM |
|
Pfam:NHL
|
471 |
498 |
2.7e-7 |
PFAM |
|
Pfam:NHL
|
618 |
645 |
2.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155978
|
| SMART Domains |
Protein: ENSMUSP00000119579
Gene: ENSMUSG00000051675
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
21 |
65 |
8.61e-9 |
SMART |
|
Blast:BBOX
|
96 |
136 |
3e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156922
|
| SMART Domains |
Protein: ENSMUSP00000121949
Gene: ENSMUSG00000051675
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
21 |
65 |
8.61e-9 |
SMART |
|
BBOX
|
96 |
139 |
3.44e-8 |
SMART |
|
| 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. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit mild myopathy with sarcotubular myopathy, decreased fertility, and decreased axon diameter. Mice homozygous for a knock-out allele exhibit impaired adult muscle regeneration and myopathy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
C |
T |
13: 95,506,030 (GRCm39) |
E186K |
possibly damaging |
Het |
| Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
| Anks1b |
A |
G |
10: 90,730,979 (GRCm39) |
I932V |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,609,526 (GRCm39) |
Y1361H |
probably damaging |
Het |
| Bcl9 |
G |
T |
3: 97,122,545 (GRCm39) |
L85M |
probably damaging |
Het |
| Bcl9l |
T |
G |
9: 44,417,036 (GRCm39) |
S291R |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,550,767 (GRCm39) |
D201E |
probably benign |
Het |
| Efna5 |
A |
T |
17: 62,920,384 (GRCm39) |
C164* |
probably null |
Het |
| Fhip2b |
A |
T |
14: 70,823,128 (GRCm39) |
H642Q |
probably damaging |
Het |
| Fhip2b |
T |
A |
14: 70,823,630 (GRCm39) |
H580L |
probably benign |
Het |
| Gm6316 |
A |
G |
12: 69,967,763 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,500 (GRCm39) |
S57P |
probably damaging |
Het |
| Inf2 |
C |
A |
12: 112,576,930 (GRCm39) |
A968E |
unknown |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mcm5 |
T |
A |
8: 75,840,861 (GRCm39) |
V222E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,398,456 (GRCm39) |
Y287C |
unknown |
Het |
| Or12e9 |
T |
G |
2: 87,202,598 (GRCm39) |
S241A |
probably benign |
Het |
| Or13a24 |
A |
T |
7: 140,154,554 (GRCm39) |
M163L |
probably benign |
Het |
| Or14c39 |
G |
A |
7: 86,343,939 (GRCm39) |
V92M |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,713 (GRCm39) |
M136T |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,869,410 (GRCm39) |
D70G |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Ppp1r17 |
C |
A |
6: 56,003,445 (GRCm39) |
S86* |
probably null |
Het |
| Rasd1 |
A |
G |
11: 59,855,615 (GRCm39) |
M6T |
possibly damaging |
Het |
| Rsph14 |
C |
A |
10: 74,793,466 (GRCm39) |
V345F |
probably damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,299,207 (GRCm39) |
Q121L |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,205,536 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
T |
C |
11: 105,725,994 (GRCm39) |
L386P |
probably damaging |
Het |
| Tmem9b |
A |
T |
7: 109,336,164 (GRCm39) |
L160Q |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,297,462 (GRCm39) |
I24V |
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,788,302 (GRCm39) |
|
probably null |
Het |
| Zfp263 |
T |
A |
16: 3,564,279 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trim32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02142:Trim32
|
APN |
4 |
65,532,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Trim32
|
UTSW |
4 |
65,531,893 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1183:Trim32
|
UTSW |
4 |
65,532,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1523:Trim32
|
UTSW |
4 |
65,532,241 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1784:Trim32
|
UTSW |
4 |
65,532,634 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1939:Trim32
|
UTSW |
4 |
65,532,303 (GRCm39) |
missense |
probably benign |
|
|
R2069:Trim32
|
UTSW |
4 |
65,533,013 (GRCm39) |
nonsense |
probably null |
|
|
R2869:Trim32
|
UTSW |
4 |
65,532,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Trim32
|
UTSW |
4 |
65,532,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Trim32
|
UTSW |
4 |
65,531,703 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5464:Trim32
|
UTSW |
4 |
65,532,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Trim32
|
UTSW |
4 |
65,532,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Trim32
|
UTSW |
4 |
65,533,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8125:Trim32
|
UTSW |
4 |
65,532,199 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8128:Trim32
|
UTSW |
4 |
65,531,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8430:Trim32
|
UTSW |
4 |
65,532,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Trim32
|
UTSW |
4 |
65,531,692 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Trim32
|
UTSW |
4 |
65,533,062 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation