Incidental Mutation 'R5463:Trim26'
| ID |
433128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim26
|
| Ensembl Gene |
ENSMUSG00000024457 |
| Gene Name |
tripartite motif-containing 26 |
| Synonyms |
Zfp173 |
| MMRRC Submission |
043025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R5463 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37148026-37170290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37162016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 145
(H145R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053434]
[ENSMUST00000123715]
[ENSMUST00000124136]
[ENSMUST00000130367]
[ENSMUST00000130801]
[ENSMUST00000144182]
[ENSMUST00000179968]
|
| AlphaFold |
Q99PN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053434
AA Change: H145R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060103
Gene: ENSMUSG00000024457
AA Change: H145R
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
2.27e-8 |
SMART |
|
BBOX
|
97 |
138 |
4.33e-14 |
SMART |
|
low complexity region
|
206 |
219 |
N/A |
INTRINSIC |
|
PRY
|
318 |
370 |
6.18e-19 |
SMART |
|
SPRY
|
371 |
545 |
3.03e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123715
AA Change: H145R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118438
Gene: ENSMUSG00000024457
AA Change: H145R
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
2.27e-8 |
SMART |
|
BBOX
|
97 |
138 |
4.33e-14 |
SMART |
|
low complexity region
|
206 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124136
|
| SMART Domains |
Protein: ENSMUSP00000120764
Gene: ENSMUSG00000024457
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
PRY
|
121 |
173 |
6.18e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130367
AA Change: H145R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114896
Gene: ENSMUSG00000024457
AA Change: H145R
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
2.27e-8 |
SMART |
|
BBOX
|
97 |
138 |
4.33e-14 |
SMART |
|
low complexity region
|
206 |
219 |
N/A |
INTRINSIC |
|
PRY
|
318 |
370 |
6.18e-19 |
SMART |
|
SPRY
|
371 |
545 |
3.03e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130801
AA Change: H145R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118388
Gene: ENSMUSG00000024457
AA Change: H145R
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
2.27e-8 |
SMART |
|
BBOX
|
97 |
138 |
4.33e-14 |
SMART |
|
low complexity region
|
206 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134325
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144182
AA Change: H145R
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114565
Gene: ENSMUSG00000024457
AA Change: H145R
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
2.27e-8 |
SMART |
|
BBOX
|
97 |
138 |
4.33e-14 |
SMART |
|
low complexity region
|
206 |
219 |
N/A |
INTRINSIC |
|
PRY
|
318 |
370 |
6.18e-19 |
SMART |
|
low complexity region
|
379 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179968
AA Change: H145R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136651
Gene: ENSMUSG00000024457
AA Change: H145R
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
2.27e-8 |
SMART |
|
BBOX
|
97 |
138 |
4.33e-14 |
SMART |
|
low complexity region
|
206 |
219 |
N/A |
INTRINSIC |
|
PRY
|
318 |
370 |
6.18e-19 |
SMART |
|
SPRY
|
371 |
545 |
3.03e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156872
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
C |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,782,200 (GRCm39) |
S71T |
possibly damaging |
Het |
| BC048507 |
T |
C |
13: 68,011,817 (GRCm39) |
Y65H |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,720 (GRCm39) |
E1221G |
probably benign |
Het |
| Calb1 |
G |
T |
4: 15,885,656 (GRCm39) |
V76L |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,879,689 (GRCm39) |
K500* |
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,034,860 (GRCm39) |
T2437I |
probably benign |
Het |
| Cyp27b1 |
G |
A |
10: 126,887,966 (GRCm39) |
V493I |
possibly damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,740,554 (GRCm39) |
T29S |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,328 (GRCm39) |
V624A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,069,140 (GRCm39) |
I2464V |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,721,254 (GRCm39) |
|
probably null |
Het |
| Erap1 |
C |
T |
13: 74,794,533 (GRCm39) |
T64I |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,405,948 (GRCm39) |
Y1156* |
probably null |
Het |
| Fam168a |
G |
A |
7: 100,484,602 (GRCm39) |
A231T |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,813 (GRCm39) |
Y512H |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 41,071,650 (GRCm39) |
I98F |
possibly damaging |
Het |
| Got1 |
G |
A |
19: 43,493,036 (GRCm39) |
T295I |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,844,010 (GRCm39) |
E3538G |
probably damaging |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,367,009 (GRCm39) |
A2V |
probably damaging |
Het |
| Lynx1 |
G |
T |
15: 74,623,462 (GRCm39) |
Y28* |
probably null |
Het |
| Mast1 |
T |
C |
8: 85,652,136 (GRCm39) |
E304G |
probably damaging |
Het |
| Nipa1 |
G |
A |
7: 55,629,205 (GRCm39) |
Q303* |
probably null |
Het |
| Nomo1 |
G |
A |
7: 45,712,426 (GRCm39) |
R657H |
possibly damaging |
Het |
| Or51b4 |
C |
T |
7: 103,530,541 (GRCm39) |
R303H |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 37,108,628 (GRCm39) |
L551Q |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,525,930 (GRCm39) |
Y267H |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,723,168 (GRCm39) |
D223G |
probably damaging |
Het |
| Prph |
G |
A |
15: 98,953,281 (GRCm39) |
G65D |
probably benign |
Het |
| Pskh1 |
T |
C |
8: 106,639,464 (GRCm39) |
L48P |
probably benign |
Het |
| Ptdss1 |
C |
A |
13: 67,093,365 (GRCm39) |
N68K |
probably damaging |
Het |
| Rexo5 |
G |
A |
7: 119,433,526 (GRCm39) |
G495R |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,723,448 (GRCm39) |
A4204S |
possibly damaging |
Het |
| Serpinb9 |
G |
A |
13: 33,199,659 (GRCm39) |
S318N |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,586,638 (GRCm39) |
R383H |
probably benign |
Het |
| Trps1 |
A |
T |
15: 50,695,286 (GRCm39) |
Y286* |
probably null |
Het |
| Vmn1r181 |
A |
G |
7: 23,683,787 (GRCm39) |
N84S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,873,689 (GRCm39) |
Q207K |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,351,053 (GRCm39) |
T427I |
probably benign |
Het |
|
| Other mutations in Trim26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02622:Trim26
|
APN |
17 |
37,161,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Trim26
|
UTSW |
17 |
37,168,756 (GRCm39) |
unclassified |
probably benign |
|
|
R0483:Trim26
|
UTSW |
17 |
37,163,598 (GRCm39) |
splice site |
probably benign |
|
|
R0732:Trim26
|
UTSW |
17 |
37,163,510 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2384:Trim26
|
UTSW |
17 |
37,161,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2409:Trim26
|
UTSW |
17 |
37,161,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Trim26
|
UTSW |
17 |
37,168,886 (GRCm39) |
unclassified |
probably benign |
|
|
R5121:Trim26
|
UTSW |
17 |
37,161,958 (GRCm39) |
nonsense |
probably null |
|
|
R6259:Trim26
|
UTSW |
17 |
37,167,110 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7863:Trim26
|
UTSW |
17 |
37,161,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8090:Trim26
|
UTSW |
17 |
37,167,640 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8344:Trim26
|
UTSW |
17 |
37,168,602 (GRCm39) |
missense |
unknown |
|
|
R8405:Trim26
|
UTSW |
17 |
37,167,095 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9713:Trim26
|
UTSW |
17 |
37,168,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Trim26
|
UTSW |
17 |
37,168,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAACGGCTGAAGGTGGAC -3'
(R):5'- ACCAGTGCAGCCAGAATATCAG -3'
Sequencing Primer
(F):5'- TGGACAATGGCAGACAGC -3'
(R):5'- GTGCAGCCAGAATATCAGCTTCTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation