Incidental Mutation 'R5480:Trim21'
| ID |
434262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim21
|
| Ensembl Gene |
ENSMUSG00000030966 |
| Gene Name |
tripartite motif-containing 21 |
| Synonyms |
Ro52, Ssa1 |
| MMRRC Submission |
043041-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102207127-102214689 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102208463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 419
(T419A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033264]
[ENSMUST00000098227]
[ENSMUST00000106913]
[ENSMUST00000217478]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033264
AA Change: T419A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966
AA Change: T419A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
50 |
6e-8 |
SMART |
|
BBOX
|
83 |
124 |
2.71e-15 |
SMART |
|
coiled coil region
|
184 |
242 |
N/A |
INTRINSIC |
|
PRY
|
282 |
334 |
1.08e-23 |
SMART |
|
SPRY
|
335 |
461 |
8.9e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098227
|
| SMART Domains |
Protein: ENSMUSP00000095829
Gene: ENSMUSG00000073977
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
1.7e-105 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
225 |
1.2e-11 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106913
AA Change: T419A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966
AA Change: T419A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
50 |
6e-8 |
SMART |
|
BBOX
|
83 |
124 |
2.71e-15 |
SMART |
|
coiled coil region
|
184 |
242 |
N/A |
INTRINSIC |
|
PRY
|
282 |
334 |
1.08e-23 |
SMART |
|
SPRY
|
335 |
461 |
8.9e-35 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217478
|
| Meta Mutation Damage Score |
0.1840 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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 encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Unmanipulated homozygous mice are normal, but leads to tissue inflammation and systemic autoimmunity in vivo and reduced number of CD11c+ dendritic cells from mutant bone marrow in vitro. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh7 |
A |
G |
17: 57,306,131 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,979 (GRCm39) |
L343S |
probably damaging |
Het |
| Btbd10 |
T |
A |
7: 112,915,914 (GRCm39) |
R392W |
probably damaging |
Het |
| Camkv |
A |
G |
9: 107,824,074 (GRCm39) |
D216G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,836,460 (GRCm39) |
D525G |
probably damaging |
Het |
| Dqx1 |
A |
T |
6: 83,041,784 (GRCm39) |
D542V |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,441 (GRCm39) |
T539A |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,267,939 (GRCm39) |
E278G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,200,912 (GRCm39) |
S721P |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,857,424 (GRCm39) |
C2257* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
| Gfy |
C |
A |
7: 44,826,657 (GRCm39) |
V394F |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,894,579 (GRCm39) |
L241P |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,552,100 (GRCm39) |
S445P |
probably damaging |
Het |
| Ift140 |
G |
T |
17: 25,239,550 (GRCm39) |
W69L |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,428,323 (GRCm39) |
M1226K |
possibly damaging |
Het |
| Klk12 |
T |
G |
7: 43,420,482 (GRCm39) |
H140Q |
probably benign |
Het |
| Map3k14 |
A |
G |
11: 103,130,330 (GRCm39) |
F196L |
probably benign |
Het |
| Mblac2 |
T |
A |
13: 81,898,395 (GRCm39) |
V257E |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,138,935 (GRCm39) |
E188G |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,027,724 (GRCm39) |
N250S |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,648,811 (GRCm39) |
D209G |
probably damaging |
Het |
| Pigs |
T |
G |
11: 78,219,901 (GRCm39) |
I92S |
possibly damaging |
Het |
| Pigz |
G |
T |
16: 31,763,439 (GRCm39) |
G166C |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,388 (GRCm39) |
R1550L |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,180,595 (GRCm39) |
V40A |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,301,616 (GRCm39) |
M1470K |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,833,652 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,098,311 (GRCm39) |
T1272A |
possibly damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,000,464 (GRCm39) |
D720E |
probably damaging |
Het |
| Rgs12 |
C |
G |
5: 35,123,455 (GRCm39) |
Q413E |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,563 (GRCm39) |
V376D |
possibly damaging |
Het |
| Rrp8 |
C |
T |
7: 105,383,336 (GRCm39) |
S310N |
probably damaging |
Het |
| S100a3 |
C |
T |
3: 90,509,591 (GRCm39) |
L79F |
probably damaging |
Het |
| Setbp1 |
C |
A |
18: 78,901,278 (GRCm39) |
M796I |
probably damaging |
Het |
| Sipa1 |
A |
G |
19: 5,709,658 (GRCm39) |
L254P |
possibly damaging |
Het |
| Slc4a7 |
C |
G |
14: 14,782,138 (GRCm38) |
H964Q |
probably damaging |
Het |
| Strc |
G |
T |
2: 121,195,300 (GRCm39) |
P1661Q |
probably benign |
Het |
| Taf5l |
A |
T |
8: 124,736,559 (GRCm39) |
V4E |
possibly damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,069,123 (GRCm39) |
E82G |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,739,682 (GRCm39) |
S858P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,310,557 (GRCm39) |
V157A |
probably damaging |
Het |
| Vmn2r60 |
G |
T |
7: 41,785,154 (GRCm39) |
W122L |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,139,787 (GRCm39) |
Y369* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
|
| Other mutations in Trim21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Trim21
|
APN |
7 |
102,208,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01729:Trim21
|
APN |
7 |
102,213,100 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02680:Trim21
|
APN |
7 |
102,208,870 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03349:Trim21
|
APN |
7 |
102,212,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1508:Trim21
|
UTSW |
7 |
102,208,783 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1662:Trim21
|
UTSW |
7 |
102,211,105 (GRCm39) |
nonsense |
probably null |
|
|
R2904:Trim21
|
UTSW |
7 |
102,209,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4482:Trim21
|
UTSW |
7 |
102,213,140 (GRCm39) |
nonsense |
probably null |
|
|
R5606:Trim21
|
UTSW |
7 |
102,208,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6130:Trim21
|
UTSW |
7 |
102,212,498 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6214:Trim21
|
UTSW |
7 |
102,208,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6215:Trim21
|
UTSW |
7 |
102,208,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6291:Trim21
|
UTSW |
7 |
102,213,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6731:Trim21
|
UTSW |
7 |
102,208,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7612:Trim21
|
UTSW |
7 |
102,208,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8008:Trim21
|
UTSW |
7 |
102,209,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8491:Trim21
|
UTSW |
7 |
102,208,689 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8784:Trim21
|
UTSW |
7 |
102,208,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8991:Trim21
|
UTSW |
7 |
102,212,908 (GRCm39) |
missense |
probably benign |
|
|
R9380:Trim21
|
UTSW |
7 |
102,212,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9730:Trim21
|
UTSW |
7 |
102,213,247 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCAGAAATGGTCCCCAGG -3'
(R):5'- GGGCAGTTTTCACTCAGTCC -3'
Sequencing Primer
(F):5'- TCACTGGATCTTGATCAGGACAG -3'
(R):5'- AGTTTTCACTCAGTCCCGAGAATGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation