Incidental Mutation 'R5162:Trim23'
| ID |
397072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim23
|
| Ensembl Gene |
ENSMUSG00000021712 |
| Gene Name |
tripartite motif-containing 23 |
| Synonyms |
Arfd1, 6330516O20Rik |
| MMRRC Submission |
042744-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R5162 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104315305-104339880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104317682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 61
(T61I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022224]
[ENSMUST00000022225]
[ENSMUST00000069174]
[ENSMUST00000069187]
[ENSMUST00000141557]
[ENSMUST00000144060]
[ENSMUST00000179891]
|
| AlphaFold |
Q8BGX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022224
|
| SMART Domains |
Protein: ENSMUSP00000022224
Gene: ENSMUSG00000021711
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF974
|
65 |
298 |
1.3e-87 |
PFAM |
|
low complexity region
|
366 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022225
AA Change: T61I
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712
AA Change: T61I
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
31 |
75 |
3.07e-5 |
SMART |
|
BBOX
|
122 |
168 |
3.07e-1 |
SMART |
|
BBOX
|
173 |
219 |
1.32e-4 |
SMART |
|
BBC
|
226 |
370 |
2.89e-41 |
SMART |
|
ARF
|
387 |
569 |
1.15e-78 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069174
AA Change: T41I
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000069371
Gene: ENSMUSG00000021712
AA Change: T41I
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
11 |
55 |
3.07e-5 |
SMART |
|
BBOX
|
102 |
148 |
3.07e-1 |
SMART |
|
BBOX
|
153 |
199 |
1.32e-4 |
SMART |
|
BBC
|
206 |
350 |
2.89e-41 |
SMART |
|
ARF
|
367 |
549 |
1.15e-78 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069187
AA Change: T61I
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712
AA Change: T61I
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
31 |
75 |
3.07e-5 |
SMART |
|
BBOX
|
122 |
168 |
3.07e-1 |
SMART |
|
BBOX
|
173 |
219 |
5.95e-3 |
SMART |
|
BBC
|
182 |
309 |
8.07e-22 |
SMART |
|
ARF
|
326 |
508 |
1.15e-78 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133280
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141557
|
| SMART Domains |
Protein: ENSMUSP00000118316
Gene: ENSMUSG00000021711
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF974
|
65 |
299 |
1.6e-88 |
PFAM |
|
low complexity region
|
365 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142745
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160230
AA Change: T61I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124425
Gene: ENSMUSG00000021712
AA Change: T61I
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
31 |
75 |
3.07e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144060
|
| SMART Domains |
Protein: ENSMUSP00000114406
Gene: ENSMUSG00000021711
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF974
|
65 |
293 |
4.4e-87 |
PFAM |
|
low complexity region
|
360 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179891
|
| SMART Domains |
Protein: ENSMUSP00000136986
Gene: ENSMUSG00000021711
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF974
|
65 |
299 |
1e-87 |
PFAM |
|
low complexity region
|
366 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1493 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (61/62) |
| 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. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [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. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,301 (GRCm39) |
T229S |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,717,348 (GRCm39) |
E367G |
probably benign |
Het |
| Ak9 |
T |
A |
10: 41,233,653 (GRCm39) |
N630K |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
| Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
| Cry1 |
T |
A |
10: 84,969,150 (GRCm39) |
H558L |
probably benign |
Het |
| Cstdc3 |
A |
T |
16: 36,132,918 (GRCm39) |
H65L |
probably damaging |
Het |
| Cyp3a57 |
T |
A |
5: 145,305,893 (GRCm39) |
W126R |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,401,201 (GRCm39) |
V355E |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,604,013 (GRCm39) |
|
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,710,692 (GRCm39) |
D694G |
probably benign |
Het |
| Esrp2 |
T |
C |
8: 106,859,930 (GRCm39) |
E336G |
probably damaging |
Het |
| Faah |
A |
T |
4: 115,857,938 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,478,846 (GRCm39) |
G2608R |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,022,354 (GRCm39) |
Y122F |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 92,051,215 (GRCm39) |
D1497G |
probably damaging |
Het |
| Fn3krp |
T |
C |
11: 121,320,410 (GRCm39) |
F252L |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,389,084 (GRCm39) |
Y549C |
probably damaging |
Het |
| Gcm2 |
T |
C |
13: 41,257,131 (GRCm39) |
N206S |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,429,843 (GRCm39) |
|
probably null |
Het |
| Henmt1 |
T |
C |
3: 108,847,366 (GRCm39) |
|
probably null |
Het |
| Man1b1 |
T |
A |
2: 25,233,365 (GRCm39) |
L246Q |
probably damaging |
Het |
| Mdh2 |
T |
C |
5: 135,812,329 (GRCm39) |
|
probably null |
Het |
| Mocos |
T |
C |
18: 24,787,109 (GRCm39) |
F43L |
probably damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,359,914 (GRCm39) |
I441F |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nars2 |
T |
C |
7: 96,709,027 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,245,396 (GRCm39) |
M434K |
possibly damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,350,394 (GRCm38) |
|
noncoding transcript |
Het |
| Or14j8 |
T |
A |
17: 38,263,255 (GRCm39) |
Q220L |
probably benign |
Het |
| Or9a2 |
G |
T |
6: 41,748,706 (GRCm39) |
H176N |
possibly damaging |
Het |
| Pals2 |
T |
A |
6: 50,155,495 (GRCm39) |
W259R |
probably damaging |
Het |
| Pars2 |
A |
G |
4: 106,511,735 (GRCm39) |
T506A |
probably benign |
Het |
| Pkp2 |
T |
C |
16: 16,078,200 (GRCm39) |
S481P |
probably damaging |
Het |
| Plod3 |
T |
C |
5: 137,020,161 (GRCm39) |
W459R |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,121,482 (GRCm39) |
L181M |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,251,714 (GRCm39) |
I361F |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Raver2 |
T |
C |
4: 100,959,921 (GRCm39) |
C134R |
probably damaging |
Het |
| Rnf130 |
G |
C |
11: 49,943,722 (GRCm39) |
A123P |
probably damaging |
Het |
| Slc29a4 |
G |
A |
5: 142,707,207 (GRCm39) |
A517T |
possibly damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,376,759 (GRCm39) |
S138T |
possibly damaging |
Het |
| Spred1 |
T |
C |
2: 117,008,102 (GRCm39) |
V336A |
possibly damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,473,263 (GRCm39) |
M504K |
probably benign |
Het |
| Syt11 |
T |
C |
3: 88,655,149 (GRCm39) |
D78G |
probably damaging |
Het |
| Tsg101 |
T |
C |
7: 46,542,174 (GRCm39) |
T260A |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,440,618 (GRCm39) |
Y48C |
probably damaging |
Het |
| Utp25 |
G |
T |
1: 192,796,089 (GRCm39) |
T192K |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Vmn2r89 |
C |
A |
14: 51,693,620 (GRCm39) |
H323Q |
possibly damaging |
Het |
| Vps18 |
A |
G |
2: 119,123,423 (GRCm39) |
S117G |
probably benign |
Het |
| Zfp93 |
C |
G |
7: 23,975,757 (GRCm39) |
Q581E |
probably damaging |
Het |
|
| Other mutations in Trim23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02092:Trim23
|
APN |
13 |
104,324,120 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0462:Trim23
|
UTSW |
13 |
104,334,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Trim23
|
UTSW |
13 |
104,337,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0980:Trim23
|
UTSW |
13 |
104,324,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1087:Trim23
|
UTSW |
13 |
104,324,618 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1764:Trim23
|
UTSW |
13 |
104,335,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2441:Trim23
|
UTSW |
13 |
104,328,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4006:Trim23
|
UTSW |
13 |
104,324,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4010:Trim23
|
UTSW |
13 |
104,317,526 (GRCm39) |
unclassified |
probably benign |
|
|
R5383:Trim23
|
UTSW |
13 |
104,335,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Trim23
|
UTSW |
13 |
104,328,541 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5520:Trim23
|
UTSW |
13 |
104,324,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5539:Trim23
|
UTSW |
13 |
104,334,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Trim23
|
UTSW |
13 |
104,324,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7079:Trim23
|
UTSW |
13 |
104,323,801 (GRCm39) |
splice site |
probably null |
|
|
R7249:Trim23
|
UTSW |
13 |
104,324,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7290:Trim23
|
UTSW |
13 |
104,323,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7608:Trim23
|
UTSW |
13 |
104,328,541 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8495:Trim23
|
UTSW |
13 |
104,337,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8851:Trim23
|
UTSW |
13 |
104,334,573 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8976:Trim23
|
UTSW |
13 |
104,328,545 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9122:Trim23
|
UTSW |
13 |
104,317,681 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1187:Trim23
|
UTSW |
13 |
104,315,395 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAACATGCCTGGCTTGG -3'
(R):5'- AGAGTGGACCTCATCTACCTTAG -3'
Sequencing Primer
(F):5'- AAACATGCCTGGCTTGGTCAATTG -3'
(R):5'- GAGACTCAGATTGTGAAAGCTCTTTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation