Incidental Mutation 'R5616:Trim41'
| ID |
439537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim41
|
| Ensembl Gene |
ENSMUSG00000040365 |
| Gene Name |
tripartite motif-containing 41 |
| Synonyms |
RINCK |
| MMRRC Submission |
043159-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.469)
|
| Stock # |
R5616 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
48697231-48708180 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GCCTAGGCGCCCA to G
at 48698192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020640]
[ENSMUST00000047145]
[ENSMUST00000131888]
[ENSMUST00000140800]
|
| AlphaFold |
Q5NCC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020640
|
| SMART Domains |
Protein: ENSMUSP00000020640
Gene: ENSMUSG00000020372
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
5.55e-7 |
SMART |
|
WD40
|
52 |
91 |
6.48e-8 |
SMART |
|
WD40
|
94 |
133 |
2.95e-11 |
SMART |
|
WD40
|
135 |
178 |
8.55e-8 |
SMART |
|
WD40
|
181 |
220 |
2.42e-7 |
SMART |
|
WD40
|
223 |
260 |
6.34e-2 |
SMART |
|
WD40
|
271 |
311 |
2.4e-2 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000082846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125166
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000136703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142269
|
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,566,009 (GRCm39) |
D443E |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,252,874 (GRCm39) |
D1037G |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,653,399 (GRCm39) |
L148* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,317,940 (GRCm39) |
P1481S |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,596,641 (GRCm39) |
R117L |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,632,175 (GRCm39) |
V271E |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,500,722 (GRCm39) |
R707H |
probably damaging |
Het |
| Dcakd |
A |
G |
11: 102,885,831 (GRCm39) |
L191P |
possibly damaging |
Het |
| Dhx32 |
T |
C |
7: 133,322,957 (GRCm39) |
*612W |
probably null |
Het |
| Disp1 |
T |
A |
1: 182,869,913 (GRCm39) |
T836S |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,111,393 (GRCm39) |
V126D |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,098,267 (GRCm39) |
T246A |
possibly damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,410,517 (GRCm39) |
V273E |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,831 (GRCm39) |
Y113H |
probably damaging |
Het |
| Gpr33 |
T |
C |
12: 52,070,377 (GRCm39) |
I221V |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,729 (GRCm39) |
F9L |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,695 (GRCm39) |
N449K |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,492,647 (GRCm39) |
S1363P |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,366 (GRCm39) |
V60A |
probably benign |
Het |
| Matn3 |
A |
G |
12: 8,998,195 (GRCm39) |
H51R |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtrf1 |
T |
C |
14: 79,638,885 (GRCm39) |
C6R |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,194,038 (GRCm39) |
S784G |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,179,715 (GRCm39) |
Y401C |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,585 (GRCm39) |
E37G |
probably damaging |
Het |
| Pelp1 |
G |
A |
11: 70,285,688 (GRCm39) |
P727S |
possibly damaging |
Het |
| Prkca |
T |
C |
11: 107,869,169 (GRCm39) |
D472G |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,122,120 (GRCm38) |
H328R |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,559,173 (GRCm39) |
E889K |
unknown |
Het |
| Rubcn |
T |
C |
16: 32,647,293 (GRCm39) |
D715G |
possibly damaging |
Het |
| Snurf |
C |
T |
7: 59,649,133 (GRCm39) |
E15K |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Srp72 |
T |
G |
5: 77,135,781 (GRCm39) |
L237R |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,921,937 (GRCm39) |
E406G |
probably damaging |
Het |
| Tgm2 |
A |
G |
2: 157,970,640 (GRCm39) |
S340P |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,657 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
G |
T |
3: 58,324,583 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,084 (GRCm39) |
I162V |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,191 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
T |
C |
11: 103,703,596 (GRCm39) |
|
probably null |
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 |
|
R2918:Trim41
|
UTSW |
11 |
48,707,084 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
|
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'- AGAAGCAGCCTGGGTTCAAG -3'
(R):5'- TGCCCGTGAATCAACCCATC -3'
Sequencing Primer
(F):5'- TGGGAGGAATCCAGGCTC -3'
(R):5'- TTAGCAGTGGGGATGCCAGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation