Incidental Mutation 'R6610:Trim32'
| ID |
525876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim32
|
| Ensembl Gene |
ENSMUSG00000051675 |
| Gene Name |
tripartite motif-containing 32 |
| Synonyms |
3f3, Zfp117, 1810045E12Rik, BBS11 |
| MMRRC Submission |
044733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
R6610 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
65523223-65534475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65533308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 622
(V622M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102989
(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: V622M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062277
Gene: ENSMUSG00000051675
AA Change: V622M
| 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: V622M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102989
Gene: ENSMUSG00000051675
AA Change: V622M
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
A |
T |
9: 21,437,561 (GRCm39) |
M1L |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,974,190 (GRCm39) |
K271E |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,694,246 (GRCm39) |
I914T |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,612,013 (GRCm39) |
R396G |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,104,505 (GRCm39) |
K2173E |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,915,036 (GRCm39) |
D51G |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 57,976,419 (GRCm39) |
T532S |
possibly damaging |
Het |
| Ccnt1 |
T |
C |
15: 98,462,982 (GRCm39) |
I63M |
probably damaging |
Het |
| Cdc20b |
C |
T |
13: 113,200,796 (GRCm39) |
T172I |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Ces2f |
T |
G |
8: 105,676,738 (GRCm39) |
|
probably null |
Het |
| Cfh |
A |
T |
1: 140,029,486 (GRCm39) |
C597* |
probably null |
Het |
| Cntnap2 |
A |
T |
6: 45,992,191 (GRCm39) |
T373S |
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,941,470 (GRCm39) |
C64G |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 43,995,520 (GRCm39) |
F416L |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Eif4e1b |
A |
G |
13: 54,932,128 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
A |
G |
4: 56,758,236 (GRCm39) |
V1227A |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,718,180 (GRCm39) |
R256K |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,643,707 (GRCm39) |
L1054P |
possibly damaging |
Het |
| Grik1 |
A |
G |
16: 87,831,200 (GRCm39) |
I190T |
probably damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,696,857 (GRCm39) |
N438S |
probably benign |
Het |
| Igkv15-103 |
A |
T |
6: 68,414,617 (GRCm39) |
R19* |
probably null |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Lhcgr |
A |
T |
17: 89,077,307 (GRCm39) |
I93K |
possibly damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Mymk |
G |
T |
2: 26,957,405 (GRCm39) |
S29R |
possibly damaging |
Het |
| Nab2 |
A |
T |
10: 127,500,207 (GRCm39) |
I295N |
probably damaging |
Het |
| Neu2 |
A |
T |
1: 87,524,407 (GRCm39) |
T131S |
probably benign |
Het |
| Pdcd7 |
T |
A |
9: 65,261,965 (GRCm39) |
M129K |
possibly damaging |
Het |
| Ptar1 |
A |
G |
19: 23,695,208 (GRCm39) |
H225R |
probably benign |
Het |
| Pygb |
T |
A |
2: 150,665,886 (GRCm39) |
|
probably null |
Het |
| Rpap3 |
T |
C |
15: 97,586,049 (GRCm39) |
D314G |
probably benign |
Het |
| Scara3 |
A |
G |
14: 66,168,670 (GRCm39) |
S316P |
probably damaging |
Het |
| Sec24a |
C |
T |
11: 51,587,483 (GRCm39) |
V1051I |
probably benign |
Het |
| Setdb1 |
G |
T |
3: 95,235,888 (GRCm39) |
A841D |
probably damaging |
Het |
| Stk32b |
G |
A |
5: 37,606,022 (GRCm39) |
T407I |
probably benign |
Het |
| Tcte2 |
G |
A |
17: 13,948,250 (GRCm39) |
Q10* |
probably null |
Het |
| Tgm2 |
C |
A |
2: 157,985,020 (GRCm39) |
E29* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Vmn1r123 |
A |
G |
7: 20,896,515 (GRCm39) |
N136D |
probably benign |
Het |
| Vmn2r31 |
A |
T |
7: 7,387,588 (GRCm39) |
V661E |
probably damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,261,838 (GRCm39) |
F166L |
probably damaging |
Het |
| Zfp426 |
T |
C |
9: 20,384,389 (GRCm39) |
K98R |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- GAATGAACACCACCTGGAGG -3'
(R):5'- AGGCCACATCTACTCTACGG -3'
Sequencing Primer
(F):5'- ATCGGTTCTGTTGGCCCCG -3'
(R):5'- CATCTACTCTACGGCACCATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation