Incidental Mutation 'R2918:Trim41'
| ID |
255379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim41
|
| Ensembl Gene |
ENSMUSG00000040365 |
| Gene Name |
tripartite motif-containing 41 |
| Synonyms |
RINCK |
| MMRRC Submission |
040503-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.411)
|
| Stock # |
R2918 (G1)
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
48697231-48708180 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC to TTCCTCCTCCTCCTCCTCCTCCTCC
at 48707084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047145]
[ENSMUST00000131888]
[ENSMUST00000140800]
|
| AlphaFold |
Q5NCC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047145
|
| SMART Domains |
Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
20 |
186 |
2.91e-6 |
SMART |
|
BBOX
|
222 |
263 |
3.31e-10 |
SMART |
|
coiled coil region
|
281 |
313 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
374 |
N/A |
INTRINSIC |
|
PRY
|
430 |
482 |
2.04e-19 |
SMART |
|
Pfam:SPRY
|
485 |
629 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131888
|
| SMART Domains |
Protein: ENSMUSP00000119707
Gene: ENSMUSG00000040365
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3631
|
9 |
124 |
9.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138019
|
| SMART Domains |
Protein: ENSMUSP00000118789
Gene: ENSMUSG00000040365
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RING
|
2 |
45 |
2e-6 |
BLAST |
|
SCOP:d1jm7b_
|
41 |
75 |
1e-4 |
SMART |
|
BBOX
|
81 |
122 |
3.31e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140800
|
| SMART Domains |
Protein: ENSMUSP00000121705
Gene: ENSMUSG00000040365
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
19 |
60 |
3.31e-10 |
SMART |
|
coiled coil region
|
78 |
110 |
N/A |
INTRINSIC |
|
coiled coil region
|
133 |
161 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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 family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
G |
2: 22,989,579 (GRCm39) |
N401D |
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,644,829 (GRCm39) |
D679V |
possibly damaging |
Het |
| Akap8 |
A |
G |
17: 32,524,622 (GRCm39) |
V558A |
probably benign |
Het |
| Arrdc2 |
C |
T |
8: 71,290,171 (GRCm39) |
R170Q |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,189,027 (GRCm39) |
H94Q |
probably damaging |
Het |
| Atg4a-ps |
G |
A |
3: 103,552,837 (GRCm39) |
A168V |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,673,395 (GRCm39) |
R97L |
probably benign |
Het |
| Dnaja1 |
C |
T |
4: 40,724,052 (GRCm39) |
A71V |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| G6pd2 |
A |
G |
5: 61,966,869 (GRCm39) |
R215G |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,054,920 (GRCm39) |
S776P |
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,254,805 (GRCm39) |
N159K |
possibly damaging |
Het |
| Mafa |
A |
G |
15: 75,619,147 (GRCm39) |
S209P |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,051,683 (GRCm39) |
|
probably null |
Het |
| Myh14 |
T |
C |
7: 44,265,687 (GRCm39) |
D1564G |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,102,824 (GRCm39) |
I1792F |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,519 (GRCm39) |
F7L |
probably benign |
Het |
| Odad2 |
G |
A |
18: 7,222,625 (GRCm39) |
S548L |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,660 (GRCm39) |
S136P |
probably benign |
Het |
| Or1m1 |
T |
A |
9: 18,666,775 (GRCm39) |
D52V |
probably damaging |
Het |
| Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
| Pak3 |
T |
C |
X: 142,547,972 (GRCm39) |
V318A |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,290,970 (GRCm39) |
T521A |
probably benign |
Het |
| Pkdcc |
G |
C |
17: 83,523,378 (GRCm39) |
A162P |
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,701 (GRCm39) |
V194A |
probably damaging |
Het |
| Scp2d1 |
T |
A |
2: 144,665,868 (GRCm39) |
I69N |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,905,782 (GRCm39) |
S1288P |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,645,532 (GRCm39) |
S2019P |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,021,004 (GRCm39) |
L630* |
probably null |
Het |
| Trpc1 |
C |
T |
9: 95,605,182 (GRCm39) |
R159H |
probably damaging |
Het |
| Zbtb14 |
C |
T |
17: 69,695,214 (GRCm39) |
P304L |
probably damaging |
Het |
|
| Other mutations in Trim41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Trim41
|
APN |
11 |
48,703,190 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02959:Trim41
|
APN |
11 |
48,698,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0692:Trim41
|
UTSW |
11 |
48,699,077 (GRCm39) |
splice site |
probably null |
|
|
R1785:Trim41
|
UTSW |
11 |
48,698,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Trim41
|
UTSW |
11 |
48,698,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2130:Trim41
|
UTSW |
11 |
48,698,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Trim41
|
UTSW |
11 |
48,698,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3018:Trim41
|
UTSW |
11 |
48,698,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3024:Trim41
|
UTSW |
11 |
48,698,985 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3770:Trim41
|
UTSW |
11 |
48,699,911 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5295:Trim41
|
UTSW |
11 |
48,707,084 (GRCm39) |
intron |
probably benign |
|
|
R5615:Trim41
|
UTSW |
11 |
48,698,192 (GRCm39) |
unclassified |
probably benign |
|
|
R5616:Trim41
|
UTSW |
11 |
48,698,192 (GRCm39) |
unclassified |
probably benign |
|
|
R6673:Trim41
|
UTSW |
11 |
48,707,084 (GRCm39) |
intron |
probably benign |
|
|
R9549:Trim41
|
UTSW |
11 |
48,707,084 (GRCm39) |
intron |
probably benign |
|
|
RF010:Trim41
|
UTSW |
11 |
48,698,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATCTGACGGATCACCTG -3'
(R):5'- CAACTTCTGCCGAGTGTGTG -3'
Sequencing Primer
(F):5'- ATCACCTGGACCATGTTGG -3'
(R):5'- ACTTCTGCCGAGTGTGTGTAACC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation