Incidental Mutation 'R8405:Trim26'
| ID |
652382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim26
|
| Ensembl Gene |
ENSMUSG00000024457 |
| Gene Name |
tripartite motif-containing 26 |
| Synonyms |
Zfp173 |
| MMRRC Submission |
067879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R8405 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37148026-37170290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37167095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 262
(D262G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025329]
[ENSMUST00000053434]
[ENSMUST00000123715]
[ENSMUST00000124136]
[ENSMUST00000130367]
[ENSMUST00000130801]
[ENSMUST00000144182]
[ENSMUST00000174195]
[ENSMUST00000179968]
|
| AlphaFold |
Q99PN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025329
|
| SMART Domains |
Protein: ENSMUSP00000025329
Gene: ENSMUSG00000050747
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
53 |
2e-4 |
SMART |
|
BBOX
|
73 |
114 |
2.41e-12 |
SMART |
|
coiled coil region
|
145 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053434
AA Change: D262G
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060103
Gene: ENSMUSG00000024457
AA Change: D262G
| 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 benign
Transcript: ENSMUST00000123715
AA Change: D262G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118438
Gene: ENSMUSG00000024457
AA Change: D262G
| 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
AA Change: D65G
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120764
Gene: ENSMUSG00000024457
AA Change: D65G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
PRY
|
121 |
173 |
6.18e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130367
AA Change: D262G
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114896
Gene: ENSMUSG00000024457
AA Change: D262G
| 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 benign
Transcript: ENSMUST00000130801
|
| SMART Domains |
Protein: ENSMUSP00000118388
Gene: ENSMUSG00000024457
| 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 |
possibly damaging
Transcript: ENSMUST00000144182
AA Change: D262G
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114565
Gene: ENSMUSG00000024457
AA Change: D262G
| 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 benign
Transcript: ENSMUST00000174195
|
| SMART Domains |
Protein: ENSMUSP00000133953
Gene: ENSMUSG00000050747
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
53 |
2e-4 |
SMART |
|
BBOX
|
73 |
114 |
2.41e-12 |
SMART |
|
coiled coil region
|
145 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179968
AA Change: D262G
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136651
Gene: ENSMUSG00000024457
AA Change: D262G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
T |
C |
3: 153,635,165 (GRCm39) |
|
probably benign |
Het |
| Anxa3 |
C |
A |
5: 96,978,295 (GRCm39) |
D226E |
probably benign |
Het |
| Anxa8 |
T |
C |
14: 33,819,881 (GRCm39) |
L290P |
probably damaging |
Het |
| Brd4 |
C |
A |
17: 32,448,505 (GRCm39) |
K57N |
unknown |
Het |
| Cpne8 |
T |
A |
15: 90,456,235 (GRCm39) |
Q176L |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,093 (GRCm39) |
D439G |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,619,379 (GRCm39) |
S1832P |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,304,241 (GRCm39) |
S1320P |
possibly damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,894 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,349,289 (GRCm39) |
L2449Q |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,379,192 (GRCm39) |
M640V |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,612,024 (GRCm39) |
S622N |
probably benign |
Het |
| Ergic1 |
T |
A |
17: 26,874,096 (GRCm39) |
I274N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,907,167 (GRCm39) |
D2945G |
probably damaging |
Het |
| Fscb |
T |
C |
12: 64,520,278 (GRCm39) |
E396G |
possibly damaging |
Het |
| Gab1 |
T |
A |
8: 81,501,594 (GRCm39) |
R581* |
probably null |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,497 (GRCm39) |
D45G |
probably null |
Het |
| Gfap |
C |
A |
11: 102,782,255 (GRCm39) |
Q418H |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,782,256 (GRCm39) |
Q418L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,874,178 (GRCm39) |
M33L |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,533,446 (GRCm39) |
K1144N |
probably benign |
Het |
| Lrit3 |
C |
T |
3: 129,582,301 (GRCm39) |
G562D |
probably benign |
Het |
| Mab21l1 |
A |
T |
3: 55,690,659 (GRCm39) |
Q82L |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,382,508 (GRCm39) |
K1258R |
unknown |
Het |
| Nbas |
C |
A |
12: 13,329,394 (GRCm39) |
A113E |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,073,356 (GRCm39) |
D162E |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,155 (GRCm39) |
H572L |
probably benign |
Het |
| Or52s1 |
A |
T |
7: 102,861,408 (GRCm39) |
I114F |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,208 (GRCm39) |
S145T |
probably benign |
Het |
| Pcdha12 |
T |
A |
18: 37,154,250 (GRCm39) |
V323E |
possibly damaging |
Het |
| Pgm5 |
T |
A |
19: 24,705,106 (GRCm39) |
H469L |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pja2 |
T |
C |
17: 64,616,505 (GRCm39) |
E130G |
possibly damaging |
Het |
| Ppp2r2b |
G |
C |
18: 42,778,805 (GRCm39) |
D443E |
probably benign |
Het |
| Prdm9 |
T |
A |
17: 15,764,456 (GRCm39) |
T775S |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,730,016 (GRCm39) |
S211P |
probably benign |
Het |
| Rgl2 |
C |
T |
17: 34,152,698 (GRCm39) |
Q408* |
probably null |
Het |
| Rgs14 |
C |
T |
13: 55,530,962 (GRCm39) |
R389W |
probably damaging |
Het |
| Rtcb |
T |
C |
10: 85,793,534 (GRCm39) |
D13G |
probably benign |
Het |
| Slc23a4 |
C |
T |
6: 34,923,145 (GRCm39) |
C280Y |
probably benign |
Het |
| Slc7a5 |
G |
T |
8: 122,613,661 (GRCm39) |
T297K |
possibly damaging |
Het |
| Spef2 |
A |
G |
15: 9,612,643 (GRCm39) |
V1229A |
probably benign |
Het |
| Stag3 |
A |
C |
5: 138,302,914 (GRCm39) |
T1064P |
probably damaging |
Het |
| Tnnt1 |
A |
G |
7: 4,510,592 (GRCm39) |
S211P |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,060,749 (GRCm39) |
Y342* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,658,755 (GRCm39) |
I1134V |
probably benign |
Het |
| Tsc22d1 |
G |
A |
14: 76,655,734 (GRCm39) |
G738S |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,305,521 (GRCm39) |
F421L |
probably damaging |
Het |
| Vmn2r97 |
G |
A |
17: 19,134,802 (GRCm39) |
|
probably null |
Het |
| Zfat |
T |
C |
15: 68,018,410 (GRCm39) |
Y968C |
probably damaging |
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 |
|
|
R5463:Trim26
|
UTSW |
17 |
37,162,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TCTTGACCACAGATGCAGTG -3'
(R):5'- CAGTTGGACTCTGGAGATCG -3'
Sequencing Primer
(F):5'- GTGTGCCTGCCTGTTAATATGGTAC -3'
(R):5'- CTCTGGAGATCGTGTTGGGAGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation