Incidental Mutation 'R9122:Trim23'
ID |
692836 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim23
|
Ensembl Gene |
ENSMUSG00000021712 |
Gene Name |
tripartite motif-containing 23 |
Synonyms |
Arfd1, 6330516O20Rik |
MMRRC Submission |
068924-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.299)
|
Stock # |
R9122 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
104315305-104339880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104317681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 61
(T61A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022225
(fasta)
|
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 |
probably benign
Transcript: ENSMUST00000022225
AA Change: T61A
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000022225 Gene: ENSMUSG00000021712 AA Change: T61A
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: T41A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000069371 Gene: ENSMUSG00000021712 AA Change: T41A
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: T61A
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000070767 Gene: ENSMUSG00000021712 AA Change: T61A
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 |
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
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. 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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
Armh4 |
A |
T |
14: 50,011,459 (GRCm39) |
Y83N |
possibly damaging |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Cacna1d |
C |
A |
14: 29,845,402 (GRCm39) |
R611L |
probably damaging |
Het |
Cacna1d |
G |
A |
14: 29,852,125 (GRCm39) |
T498I |
probably benign |
Het |
Cc2d2a |
T |
A |
5: 43,831,081 (GRCm39) |
D57E |
probably null |
Het |
Cd180 |
C |
A |
13: 102,841,517 (GRCm39) |
L188M |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,840,510 (GRCm39) |
K1426R |
possibly damaging |
Het |
Cntnap5c |
A |
T |
17: 58,411,601 (GRCm39) |
D495V |
probably benign |
Het |
Col11a1 |
T |
A |
3: 113,907,249 (GRCm39) |
M630K |
unknown |
Het |
Cxxc1 |
T |
G |
18: 74,350,246 (GRCm39) |
D4E |
probably benign |
Het |
Ddx31 |
G |
A |
2: 28,748,753 (GRCm39) |
R227Q |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,442,898 (GRCm39) |
M1109V |
probably benign |
Het |
Dennd5b |
T |
C |
6: 148,908,240 (GRCm39) |
T1018A |
|
Het |
Efcab3 |
A |
T |
11: 104,856,605 (GRCm39) |
D3840V |
unknown |
Het |
Ggta1 |
A |
T |
2: 35,303,336 (GRCm39) |
|
probably null |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gpr37l1 |
C |
T |
1: 135,095,209 (GRCm39) |
V12I |
probably benign |
Het |
Grin2a |
A |
T |
16: 9,397,186 (GRCm39) |
V967E |
possibly damaging |
Het |
H2ac25 |
T |
C |
11: 58,845,667 (GRCm39) |
L35P |
probably damaging |
Het |
Helz |
A |
G |
11: 107,556,830 (GRCm39) |
T1283A |
probably benign |
Het |
Ints1 |
A |
G |
5: 139,745,930 (GRCm39) |
M1315T |
possibly damaging |
Het |
Klri1 |
T |
A |
6: 129,693,995 (GRCm39) |
R31* |
probably null |
Het |
Nadk |
T |
A |
4: 155,671,275 (GRCm39) |
N226K |
probably benign |
Het |
Ncapg |
T |
C |
5: 45,846,015 (GRCm39) |
F624S |
possibly damaging |
Het |
Nxn |
A |
T |
11: 76,169,317 (GRCm39) |
I154N |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,729,998 (GRCm39) |
V2952A |
unknown |
Het |
Poc1a |
T |
C |
9: 106,162,242 (GRCm39) |
V89A |
probably benign |
Het |
Pou2f2 |
T |
A |
7: 24,792,302 (GRCm39) |
T518S |
probably benign |
Het |
Pou5f1 |
C |
T |
17: 35,819,953 (GRCm39) |
T7I |
probably benign |
Het |
Prss44 |
T |
C |
9: 110,646,362 (GRCm39) |
V363A |
probably damaging |
Het |
Rhobtb1 |
T |
C |
10: 69,106,653 (GRCm39) |
V468A |
probably damaging |
Het |
Slc24a1 |
C |
A |
9: 64,834,478 (GRCm39) |
M981I |
probably benign |
Het |
Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
Tle3 |
C |
T |
9: 61,314,755 (GRCm39) |
|
probably benign |
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Trgv1 |
G |
A |
13: 19,524,330 (GRCm39) |
G18E |
probably damaging |
Het |
Tshr |
C |
A |
12: 91,478,737 (GRCm39) |
H195N |
probably benign |
Het |
Ttn |
A |
G |
2: 76,712,151 (GRCm39) |
S8202P |
unknown |
Het |
Ufsp2 |
A |
T |
8: 46,438,441 (GRCm39) |
Y248F |
probably benign |
Het |
Vmn2r12 |
T |
A |
5: 109,240,910 (GRCm39) |
I68L |
probably benign |
Het |
Wdfy3 |
C |
A |
5: 102,091,831 (GRCm39) |
V503L |
probably damaging |
Het |
Zfp788 |
A |
T |
7: 41,299,919 (GRCm39) |
K852* |
probably null |
Het |
Zfp980 |
A |
C |
4: 145,428,834 (GRCm39) |
H521P |
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 |
|
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 |
Z1187:Trim23
|
UTSW |
13 |
104,315,395 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGCCTGGCTTGGTCAATTG -3'
(R):5'- TAAGAGTGGACCTCATCTACCTTAG -3'
Sequencing Primer
(F):5'- CTGGCTTGGTCAATTGTTTTTAAATC -3'
(R):5'- GAGACTCAGATTGTGAAAGCTCTTTG -3'
|
Posted On |
2021-12-30 |