Incidental Mutation 'R7608:Trim23'
| ID |
588449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim23
|
| Ensembl Gene |
ENSMUSG00000021712 |
| Gene Name |
tripartite motif-containing 23 |
| Synonyms |
Arfd1, 6330516O20Rik |
| MMRRC Submission |
045678-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R7608 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104315305-104339880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104328541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 354
(V354A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022225]
[ENSMUST00000069174]
[ENSMUST00000069187]
|
| AlphaFold |
Q8BGX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022225
AA Change: V354A
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712
AA Change: V354A
| 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: V334A
PolyPhen 2
Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000069371
Gene: ENSMUSG00000021712
AA Change: V334A
| 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: V293A
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712
AA Change: V293A
| 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 |
|
| Meta Mutation Damage Score |
0.0968 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,154,347 (GRCm39) |
F311S |
probably benign |
Het |
| Adamts7 |
C |
A |
9: 90,055,826 (GRCm39) |
T193N |
possibly damaging |
Het |
| Akr1b7 |
A |
G |
6: 34,397,457 (GRCm39) |
N273S |
probably damaging |
Het |
| Asz1 |
G |
A |
6: 18,077,252 (GRCm39) |
T151M |
probably damaging |
Het |
| Atosb |
A |
G |
4: 43,036,533 (GRCm39) |
L66P |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,703,119 (GRCm39) |
Y1046N |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,564,022 (GRCm39) |
S902P |
probably damaging |
Het |
| Casp3 |
T |
A |
8: 47,087,368 (GRCm39) |
I105K |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,506,450 (GRCm39) |
V664I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,805,451 (GRCm39) |
C267Y |
possibly damaging |
Het |
| Dgkz |
A |
T |
2: 91,764,399 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
T |
12: 118,104,505 (GRCm39) |
|
probably null |
Het |
| Duox1 |
C |
A |
2: 122,156,616 (GRCm39) |
Y514* |
probably null |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,003,979 (GRCm39) |
|
probably null |
Het |
| Fgfrl1 |
A |
T |
5: 108,853,211 (GRCm39) |
K278M |
probably damaging |
Het |
| Fign |
T |
C |
2: 63,809,063 (GRCm39) |
I736V |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,318,184 (GRCm39) |
F410S |
probably benign |
Het |
| Hspbp1 |
C |
A |
7: 4,663,821 (GRCm39) |
K341N |
possibly damaging |
Het |
| Idh3b |
A |
T |
2: 130,122,900 (GRCm39) |
S296R |
probably damaging |
Het |
| Ifi44 |
A |
G |
3: 151,438,045 (GRCm39) |
F414S |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,577,731 (GRCm39) |
M690L |
probably benign |
Het |
| Ldaf1 |
A |
G |
7: 119,704,011 (GRCm39) |
K19E |
probably damaging |
Het |
| Lrrc49 |
C |
T |
9: 60,510,005 (GRCm39) |
G488S |
probably null |
Het |
| Mcc |
T |
C |
18: 44,624,294 (GRCm39) |
N417S |
possibly damaging |
Het |
| Melk |
T |
A |
4: 44,325,571 (GRCm39) |
|
probably null |
Het |
| Mtcl1 |
T |
C |
17: 66,650,300 (GRCm39) |
R1722G |
probably damaging |
Het |
| Or4a79 |
A |
G |
2: 89,551,642 (GRCm39) |
V271A |
probably benign |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,132 (GRCm39) |
I150V |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,456,956 (GRCm39) |
T202I |
possibly damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,806 (GRCm39) |
V132D |
possibly damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,713 (GRCm39) |
E651G |
probably damaging |
Het |
| Pop5 |
A |
G |
5: 115,375,931 (GRCm39) |
|
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,885,642 (GRCm39) |
M602L |
probably benign |
Het |
| Prpf39 |
G |
A |
12: 65,100,220 (GRCm39) |
A298T |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,413,898 (GRCm39) |
E275G |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,644,379 (GRCm39) |
|
probably null |
Het |
| Slc16a4 |
A |
T |
3: 107,210,443 (GRCm39) |
Y371F |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,693,533 (GRCm39) |
M489K |
possibly damaging |
Het |
| Spata13 |
A |
G |
14: 60,929,956 (GRCm39) |
N505D |
possibly damaging |
Het |
| Tas2r129 |
A |
G |
6: 132,928,156 (GRCm39) |
N31S |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,915,984 (GRCm39) |
Y1508* |
probably null |
Het |
| Tsc1 |
A |
T |
2: 28,548,748 (GRCm39) |
T18S |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,691,146 (GRCm39) |
K232R |
probably damaging |
Het |
| Vmn1r53 |
C |
T |
6: 90,201,104 (GRCm39) |
M73I |
probably benign |
Het |
| Vmn1r67 |
G |
A |
7: 10,181,290 (GRCm39) |
V185M |
possibly damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,276 (GRCm39) |
I99T |
probably benign |
Het |
| Zfp318 |
T |
G |
17: 46,710,935 (GRCm39) |
V886G |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,941,797 (GRCm39) |
N324S |
probably benign |
Het |
| Zfp819 |
T |
C |
7: 43,266,357 (GRCm39) |
V280A |
probably benign |
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 |
|
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'- GCTGCTCCTAAGGACATGAT -3'
(R):5'- TGCTACTCACAGTTTGCAGA -3'
Sequencing Primer
(F):5'- TGAGCCAGTCTCTCAATGAGC -3'
(R):5'- AAAGCACAGGTAAAAACAAAGGAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation