Incidental Mutation 'R8430:Trim32'
| ID |
653696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim32
|
| Ensembl Gene |
ENSMUSG00000051675 |
| Gene Name |
tripartite motif-containing 32 |
| Synonyms |
3f3, Zfp117, 1810045E12Rik, BBS11 |
| MMRRC Submission |
067775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
R8430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
65523223-65534475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65532943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 500
(V500A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062277
(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: V500A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000062277
Gene: ENSMUSG00000051675
AA Change: V500A
| 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: V500A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102989
Gene: ENSMUSG00000051675
AA Change: V500A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,078,981 (GRCm39) |
T677I |
probably benign |
Het |
| Adh4 |
T |
G |
3: 138,128,145 (GRCm39) |
N190K |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,121 (GRCm39) |
S984T |
possibly damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,037 (GRCm39) |
D17G |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,105 (GRCm39) |
N1249S |
probably benign |
Het |
| Ankrd31 |
A |
G |
13: 96,988,199 (GRCm39) |
K1071E |
possibly damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,698,437 (GRCm39) |
L120P |
probably damaging |
Het |
| AU040320 |
C |
A |
4: 126,742,693 (GRCm39) |
A986E |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,824,968 (GRCm39) |
M323T |
probably damaging |
Het |
| Cdh18 |
T |
G |
15: 23,226,770 (GRCm39) |
L77R |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,002,406 (GRCm39) |
F669I |
probably damaging |
Het |
| Cramp1 |
A |
T |
17: 25,196,536 (GRCm39) |
H859Q |
probably damaging |
Het |
| Csnk1g1 |
C |
A |
9: 65,906,803 (GRCm39) |
T140K |
probably damaging |
Het |
| Ctnnbl1 |
A |
G |
2: 157,678,603 (GRCm39) |
E402G |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,402,488 (GRCm39) |
V191A |
possibly damaging |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,765,708 (GRCm39) |
N835S |
probably damaging |
Het |
| Fggy |
GCACCA |
GCA |
4: 95,815,002 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 35,007,634 (GRCm39) |
T142M |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,403 (GRCm39) |
A189V |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,137,053 (GRCm39) |
I156V |
probably damaging |
Het |
| Itpka |
T |
A |
2: 119,580,035 (GRCm39) |
V258E |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,526,252 (GRCm39) |
S327P |
possibly damaging |
Het |
| L1td1 |
C |
T |
4: 98,626,109 (GRCm39) |
T702I |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,654,726 (GRCm39) |
D110G |
probably benign |
Het |
| Mab21l1 |
C |
A |
3: 55,690,830 (GRCm39) |
A139E |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,773,049 (GRCm39) |
V173M |
probably benign |
Het |
| Or12e1 |
T |
G |
2: 87,022,564 (GRCm39) |
S178A |
possibly damaging |
Het |
| Or2a57 |
G |
A |
6: 43,212,894 (GRCm39) |
M117I |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,164 (GRCm39) |
R301L |
probably benign |
Het |
| Or5m10b |
A |
T |
2: 85,699,526 (GRCm39) |
M197L |
probably benign |
Het |
| Rdh7 |
A |
G |
10: 127,723,495 (GRCm39) |
I120T |
probably benign |
Het |
| Rsph3a |
G |
T |
17: 8,171,403 (GRCm39) |
G173W |
probably damaging |
Het |
| Sec22b |
T |
C |
3: 97,828,546 (GRCm39) |
F203S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,916,736 (GRCm39) |
G867E |
probably benign |
Het |
| Tia1 |
A |
T |
6: 86,395,906 (GRCm39) |
D90V |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,568,537 (GRCm39) |
D1561G |
probably benign |
Het |
| Trav9d-1 |
A |
G |
14: 53,030,217 (GRCm39) |
Y107C |
probably damaging |
Het |
| Ube2f |
G |
A |
1: 91,181,989 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,086,144 (GRCm39) |
|
probably null |
Het |
| Zfp940 |
A |
G |
7: 29,544,771 (GRCm39) |
F379L |
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 |
|
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 |
|
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'- GATTGGTGTCACTGATAGCTACG -3'
(R):5'- GCGATGCAGCGGAAATCTTC -3'
Sequencing Primer
(F):5'- TGGTGTCACTGATAGCTACGACAAC -3'
(R):5'- GCAGCGGAAATCTTCATTCTCAGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation