Incidental Mutation 'R0158:Trim2'
ID |
22956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim2
|
Ensembl Gene |
ENSMUSG00000027993 |
Gene Name |
tripartite motif-containing 2 |
Synonyms |
neural activity-related ring finger protein, narf |
MMRRC Submission |
038438-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R0158 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
84067746-84214184 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 84117476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115914
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054990]
[ENSMUST00000065380]
[ENSMUST00000107691]
[ENSMUST00000107692]
[ENSMUST00000107693]
[ENSMUST00000107695]
[ENSMUST00000122849]
[ENSMUST00000147901]
[ENSMUST00000132283]
[ENSMUST00000154152]
|
AlphaFold |
Q9ESN6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054990
|
SMART Domains |
Protein: ENSMUSP00000049902 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
49 |
89 |
3.5e-9 |
SMART |
BBOX
|
139 |
180 |
3.52e-14 |
SMART |
BBC
|
187 |
313 |
1.7e-38 |
SMART |
IG_FLMN
|
350 |
450 |
2.41e-30 |
SMART |
Pfam:NHL
|
512 |
539 |
2e-8 |
PFAM |
Pfam:NHL
|
559 |
586 |
1.1e-8 |
PFAM |
Pfam:NHL
|
601 |
628 |
2.1e-7 |
PFAM |
Pfam:NHL
|
648 |
675 |
5.8e-10 |
PFAM |
Pfam:NHL
|
695 |
722 |
3.5e-12 |
PFAM |
Pfam:NHL
|
739 |
766 |
1.2e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000065380
|
SMART Domains |
Protein: ENSMUSP00000069922 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
BBC
|
161 |
287 |
1.7e-38 |
SMART |
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107691
|
SMART Domains |
Protein: ENSMUSP00000103319 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
BBC
|
161 |
287 |
1.7e-38 |
SMART |
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107692
|
SMART Domains |
Protein: ENSMUSP00000103320 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
BBC
|
161 |
287 |
1.7e-38 |
SMART |
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107693
|
SMART Domains |
Protein: ENSMUSP00000103321 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
BBC
|
161 |
287 |
1.7e-38 |
SMART |
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107695
|
SMART Domains |
Protein: ENSMUSP00000103323 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
40 |
80 |
3.5e-9 |
SMART |
BBOX
|
130 |
171 |
3.52e-14 |
SMART |
BBC
|
178 |
304 |
1.7e-38 |
SMART |
IG_FLMN
|
341 |
441 |
2.41e-30 |
SMART |
Pfam:NHL
|
503 |
530 |
9.1e-8 |
PFAM |
Pfam:NHL
|
550 |
577 |
7.5e-8 |
PFAM |
Pfam:NHL
|
592 |
619 |
1.2e-6 |
PFAM |
Pfam:NHL
|
639 |
666 |
6.3e-9 |
PFAM |
Pfam:NHL
|
686 |
713 |
4.7e-12 |
PFAM |
Pfam:NHL
|
730 |
757 |
5.8e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122849
|
SMART Domains |
Protein: ENSMUSP00000120981 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
41 |
81 |
3.5e-9 |
SMART |
BBOX
|
131 |
172 |
3.52e-14 |
SMART |
Blast:BBC
|
179 |
213 |
3e-15 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137596
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147901
|
SMART Domains |
Protein: ENSMUSP00000121055 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128574
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132283
|
SMART Domains |
Protein: ENSMUSP00000118888 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
Blast:BBC
|
161 |
191 |
2e-12 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154152
|
SMART Domains |
Protein: ENSMUSP00000115914 Gene: ENSMUSG00000027993
Domain | Start | End | E-Value | Type |
RING
|
39 |
70 |
9.3e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140856
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.1%
|
Validation Efficiency |
93% (79/85) |
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 filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit tremors, ataxia and seizures associated with neurodegeneration of Purkinje cells, deep cerebellar nuclei and retinal ganglion cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
C |
T |
16: 20,371,316 (GRCm39) |
R437C |
probably damaging |
Het |
Abhd3 |
A |
G |
18: 10,647,840 (GRCm39) |
Y315H |
possibly damaging |
Het |
Adam19 |
C |
T |
11: 46,033,861 (GRCm39) |
P891L |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 102,999,046 (GRCm39) |
Y400* |
probably null |
Het |
Ap1g1 |
T |
C |
8: 110,582,267 (GRCm39) |
S724P |
probably benign |
Het |
Bst2 |
T |
A |
8: 71,989,861 (GRCm39) |
T71S |
possibly damaging |
Het |
C3 |
A |
G |
17: 57,531,851 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
C |
A |
5: 16,566,815 (GRCm39) |
|
probably benign |
Het |
Cacna2d4 |
C |
T |
6: 119,213,709 (GRCm39) |
H43Y |
possibly damaging |
Het |
Ccdc71 |
T |
G |
9: 108,341,336 (GRCm39) |
V383G |
probably benign |
Het |
Cd109 |
A |
T |
9: 78,596,214 (GRCm39) |
Q849L |
possibly damaging |
Het |
Cdkn2a |
A |
T |
4: 89,195,004 (GRCm39) |
H115Q |
possibly damaging |
Het |
Ces1e |
T |
C |
8: 93,946,057 (GRCm39) |
E161G |
probably benign |
Het |
Cggbp1 |
C |
T |
16: 64,676,201 (GRCm39) |
S89L |
possibly damaging |
Het |
Crocc |
A |
T |
4: 140,769,553 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,505,687 (GRCm39) |
L2272* |
probably null |
Het |
Eef1akmt3 |
G |
A |
10: 126,869,142 (GRCm39) |
Q111* |
probably null |
Het |
Exoc7 |
T |
C |
11: 116,186,118 (GRCm39) |
N361S |
probably benign |
Het |
Fat2 |
G |
T |
11: 55,187,011 (GRCm39) |
S1278R |
probably benign |
Het |
Fbxo42 |
A |
G |
4: 140,927,640 (GRCm39) |
N640S |
probably benign |
Het |
Fbxw25 |
A |
G |
9: 109,483,720 (GRCm39) |
V164A |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,854,917 (GRCm39) |
I1848V |
probably damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,330 (GRCm39) |
E241G |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,924,493 (GRCm39) |
I3645F |
possibly damaging |
Het |
Gm14496 |
T |
A |
2: 181,639,206 (GRCm39) |
V432E |
probably benign |
Het |
H3c2 |
T |
A |
13: 23,936,693 (GRCm39) |
C111S |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,403,203 (GRCm39) |
L4374* |
probably null |
Het |
Ift122 |
T |
C |
6: 115,901,445 (GRCm39) |
|
probably benign |
Het |
Itgav |
C |
A |
2: 83,622,381 (GRCm39) |
N654K |
probably benign |
Het |
Itih5 |
T |
C |
2: 10,239,803 (GRCm39) |
|
probably benign |
Het |
Jak2 |
C |
A |
19: 29,289,157 (GRCm39) |
T1103K |
probably benign |
Het |
Kcnc4 |
C |
A |
3: 107,365,920 (GRCm39) |
C96F |
probably benign |
Het |
Med13l |
C |
A |
5: 118,880,514 (GRCm39) |
S1202Y |
unknown |
Het |
Mefv |
T |
C |
16: 3,533,320 (GRCm39) |
E317G |
possibly damaging |
Het |
Ncoa2 |
T |
C |
1: 13,222,608 (GRCm39) |
T1226A |
probably benign |
Het |
Nktr |
C |
T |
9: 121,579,757 (GRCm39) |
|
probably benign |
Het |
Nudt5 |
G |
A |
2: 5,867,114 (GRCm39) |
V61M |
probably damaging |
Het |
Or51a39 |
C |
T |
7: 102,363,162 (GRCm39) |
A153T |
probably benign |
Het |
Pakap |
A |
G |
4: 57,709,649 (GRCm39) |
D198G |
possibly damaging |
Het |
Pcdhb2 |
A |
C |
18: 37,430,283 (GRCm39) |
Y752S |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
Pnp2 |
G |
A |
14: 51,201,761 (GRCm39) |
R249H |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,542,121 (GRCm39) |
I32F |
probably damaging |
Het |
Rnf139 |
A |
G |
15: 58,770,727 (GRCm39) |
T251A |
probably benign |
Het |
Rnf41 |
A |
G |
10: 128,274,104 (GRCm39) |
E252G |
probably damaging |
Het |
Rxfp2 |
T |
A |
5: 149,975,093 (GRCm39) |
F220Y |
probably benign |
Het |
Sdcbp |
A |
G |
4: 6,379,042 (GRCm39) |
D43G |
possibly damaging |
Het |
Serpina3f |
A |
G |
12: 104,183,267 (GRCm39) |
D43G |
probably damaging |
Het |
Sftpc |
T |
C |
14: 70,758,887 (GRCm39) |
K154R |
probably null |
Het |
Simc1 |
A |
G |
13: 54,672,530 (GRCm39) |
T293A |
probably benign |
Het |
Skint6 |
A |
T |
4: 113,042,011 (GRCm39) |
|
probably benign |
Het |
Slc6a15 |
T |
C |
10: 103,225,208 (GRCm39) |
|
probably benign |
Het |
Spata31e2 |
T |
G |
1: 26,723,032 (GRCm39) |
H716P |
probably damaging |
Het |
Ston2 |
A |
T |
12: 91,707,376 (GRCm39) |
I78N |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,355,307 (GRCm39) |
|
probably null |
Het |
Tent4b |
G |
A |
8: 88,977,371 (GRCm39) |
G391D |
probably damaging |
Het |
Tiam1 |
C |
T |
16: 89,589,889 (GRCm39) |
|
probably benign |
Het |
Tnfsf15 |
T |
C |
4: 63,648,229 (GRCm39) |
H137R |
possibly damaging |
Het |
Tpte |
G |
A |
8: 22,817,755 (GRCm39) |
R247H |
possibly damaging |
Het |
Ulk1 |
A |
T |
5: 110,936,810 (GRCm39) |
|
probably benign |
Het |
Utp4 |
T |
G |
8: 107,640,018 (GRCm39) |
H442Q |
probably null |
Het |
Vmn1r193 |
T |
A |
13: 22,403,798 (GRCm39) |
I65F |
probably damaging |
Het |
Vps54 |
A |
T |
11: 21,256,962 (GRCm39) |
Q690L |
probably damaging |
Het |
Ybx2 |
T |
C |
11: 69,831,145 (GRCm39) |
|
probably benign |
Het |
Zbtb38 |
C |
T |
9: 96,568,993 (GRCm39) |
G697D |
possibly damaging |
Het |
Zfp202 |
C |
T |
9: 40,120,212 (GRCm39) |
Q218* |
probably null |
Het |
Zfp820 |
G |
A |
17: 22,038,800 (GRCm39) |
T176I |
probably benign |
Het |
|
Other mutations in Trim2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Trim2
|
APN |
3 |
84,115,596 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01658:Trim2
|
APN |
3 |
84,117,592 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02943:Trim2
|
APN |
3 |
84,085,483 (GRCm39) |
missense |
probably benign |
0.45 |
PIT4142001:Trim2
|
UTSW |
3 |
84,098,164 (GRCm39) |
missense |
probably benign |
0.00 |
R0149:Trim2
|
UTSW |
3 |
84,098,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R0361:Trim2
|
UTSW |
3 |
84,098,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R1270:Trim2
|
UTSW |
3 |
84,074,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R1651:Trim2
|
UTSW |
3 |
84,074,957 (GRCm39) |
critical splice donor site |
probably null |
|
R1756:Trim2
|
UTSW |
3 |
84,098,107 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1938:Trim2
|
UTSW |
3 |
84,085,099 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2046:Trim2
|
UTSW |
3 |
84,115,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R2192:Trim2
|
UTSW |
3 |
84,098,225 (GRCm39) |
nonsense |
probably null |
|
R3696:Trim2
|
UTSW |
3 |
84,098,158 (GRCm39) |
missense |
probably benign |
0.05 |
R4981:Trim2
|
UTSW |
3 |
84,085,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R5389:Trim2
|
UTSW |
3 |
84,074,960 (GRCm39) |
missense |
probably null |
0.60 |
R5735:Trim2
|
UTSW |
3 |
84,075,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R7228:Trim2
|
UTSW |
3 |
84,099,488 (GRCm39) |
missense |
probably benign |
0.01 |
R7297:Trim2
|
UTSW |
3 |
84,117,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R7640:Trim2
|
UTSW |
3 |
84,098,213 (GRCm39) |
missense |
probably benign |
0.07 |
R7853:Trim2
|
UTSW |
3 |
84,212,537 (GRCm39) |
splice site |
probably benign |
|
R7993:Trim2
|
UTSW |
3 |
84,098,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R8205:Trim2
|
UTSW |
3 |
84,100,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R8516:Trim2
|
UTSW |
3 |
84,115,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R9056:Trim2
|
UTSW |
3 |
84,080,128 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Trim2
|
UTSW |
3 |
84,072,480 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGAGAGTAGGAGTCATTCGTCCG -3'
(R):5'- ACCTGTATTTAAAAGGGAAGCGCCG -3'
Sequencing Primer
(F):5'- GACTCTCAACAGTGAGCTAGTCTG -3'
(R):5'- CGGGGATTGGTTTACACACAC -3'
|
Posted On |
2013-04-16 |