Incidental Mutation 'IGL02092:Trim23'
| ID |
279463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim23
|
| Ensembl Gene |
ENSMUSG00000021712 |
| Gene Name |
tripartite motif-containing 23 |
| Synonyms |
Arfd1, 6330516O20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
IGL02092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104315305-104339880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104324120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 173
(E173G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022225]
[ENSMUST00000069174]
[ENSMUST00000069187]
|
| AlphaFold |
Q8BGX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022225
AA Change: E193G
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712
AA Change: E193G
| 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 |
probably benign
Transcript: ENSMUST00000069174
AA Change: E173G
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000069371
Gene: ENSMUSG00000021712
AA Change: E173G
| 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 |
probably benign
Transcript: ENSMUST00000069187
AA Change: E193G
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712
AA Change: E193G
| 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 |
|
| 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. 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010H22Rik |
T |
A |
5: 98,714,627 (GRCm39) |
|
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,979 (GRCm39) |
R238S |
probably benign |
Het |
| Cdc42bpg |
C |
A |
19: 6,366,856 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
T |
C |
8: 105,776,962 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,211,137 (GRCm39) |
F517S |
probably damaging |
Het |
| Cracr2b |
A |
G |
7: 141,044,869 (GRCm39) |
E201G |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,693,140 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,059,260 (GRCm39) |
N611K |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,927 (GRCm39) |
N114K |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,415,334 (GRCm39) |
T135A |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,416 (GRCm39) |
K155E |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,286,948 (GRCm39) |
L609S |
probably damaging |
Het |
| Kcp |
C |
A |
6: 29,489,031 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,943 (GRCm39) |
K311R |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,063,508 (GRCm39) |
K1228E |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,642 (GRCm39) |
S245F |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,774,187 (GRCm39) |
L159S |
possibly damaging |
Het |
| Or7g33 |
T |
A |
9: 19,449,046 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b36 |
T |
G |
9: 37,937,917 (GRCm39) |
S272A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,136,360 (GRCm39) |
M892T |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,784,637 (GRCm39) |
T234A |
probably damaging |
Het |
| Sema4g |
G |
A |
19: 44,981,078 (GRCm39) |
|
probably null |
Het |
| Slc35a3 |
A |
G |
3: 116,474,781 (GRCm39) |
S204P |
probably damaging |
Het |
| Speer4f2 |
C |
T |
5: 17,581,627 (GRCm39) |
Q190* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,220,529 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,900 (GRCm39) |
Y104H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,749,695 (GRCm39) |
I8T |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,136,905 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
T |
C |
8: 46,448,701 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
T |
C |
8: 48,317,570 (GRCm39) |
D669G |
unknown |
Het |
| Zfp940 |
T |
C |
7: 29,545,626 (GRCm39) |
T94A |
probably benign |
Het |
| Zfp947 |
T |
G |
17: 22,366,477 (GRCm39) |
D17A |
probably damaging |
Het |
|
| Other mutations in Trim23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5162:Trim23
|
UTSW |
13 |
104,317,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation