Incidental Mutation 'R0356:Trim32'
| ID |
166159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim32
|
| Ensembl Gene |
ENSMUSG00000051675 |
| Gene Name |
tripartite motif-containing 32 |
| Synonyms |
3f3, Zfp117, 1810045E12Rik, BBS11 |
| MMRRC Submission |
038562-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R0356 (G1)
|
| Quality Score |
38 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
65523223-65534475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65531491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 16
(R16Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050850]
[ENSMUST00000068214]
[ENSMUST00000084496]
[ENSMUST00000107366]
[ENSMUST00000155978]
[ENSMUST00000156922]
|
| AlphaFold |
Q8CH72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050850
AA Change: R16Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062277
Gene: ENSMUSG00000051675
AA Change: R16Q
| 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 |
probably damaging
Transcript: ENSMUST00000107366
AA Change: R16Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102989
Gene: ENSMUSG00000051675
AA Change: R16Q
| 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 damaging
Transcript: ENSMUST00000155978
AA Change: R16Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119579
Gene: ENSMUSG00000051675
AA Change: R16Q
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
21 |
65 |
8.61e-9 |
SMART |
|
Blast:BBOX
|
96 |
136 |
3e-22 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156922
AA Change: R16Q
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121949
Gene: ENSMUSG00000051675
AA Change: R16Q
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
21 |
65 |
8.61e-9 |
SMART |
|
BBOX
|
96 |
139 |
3.44e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.1654 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
| Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
| Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
| Ccdc62 |
G |
A |
5: 124,092,811 (GRCm39) |
V599I |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
| Cog5 |
T |
C |
12: 31,887,180 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
| Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
| Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
| Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
| Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
| Hspa12b |
G |
T |
2: 130,986,719 (GRCm39) |
V547L |
possibly damaging |
Het |
| Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
| Mmp3 |
G |
A |
9: 7,451,768 (GRCm39) |
E369K |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
| Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,773,430 (GRCm39) |
N424S |
possibly damaging |
Het |
| Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
| Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,203,080 (GRCm39) |
|
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
| Sirpb1c |
T |
C |
3: 15,887,309 (GRCm39) |
N175D |
possibly damaging |
Het |
| Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
| Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
| Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
| Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
| Ttll11 |
T |
C |
2: 35,792,688 (GRCm39) |
D385G |
possibly damaging |
Het |
| Zfp426 |
T |
C |
9: 20,382,541 (GRCm39) |
T135A |
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 |
|
IGL02534:Trim32
|
APN |
4 |
65,532,906 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0302: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 |
|
|
| Predicted Primers |
|
| Posted On |
2014-04-09 |
Incidental Mutation