Incidental Mutation 'R3770:Trim41'
| ID |
273226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim41
|
| Ensembl Gene |
ENSMUSG00000040365 |
| Gene Name |
tripartite motif-containing 41 |
| Synonyms |
RINCK |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.411)
|
| Stock # |
R3770 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
48697231-48708180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48699911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 98
(E98G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119707
(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
AA Change: E369G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365
AA Change: E369G
| 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: ENSMUST00000125166
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131888
AA Change: E98G
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119707
Gene: ENSMUSG00000040365
AA Change: E98G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3631
|
9 |
124 |
9.4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136849
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000139959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142269
|
| 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: 97.2%
- 20x: 94.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
T |
C |
11: 116,065,213 (GRCm39) |
D578G |
probably damaging |
Het |
| Adgrb1 |
T |
A |
15: 74,460,157 (GRCm39) |
I543N |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
| Ano1 |
A |
G |
7: 144,149,306 (GRCm39) |
Y852H |
probably damaging |
Het |
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,488,510 (GRCm39) |
D842G |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,066,035 (GRCm39) |
|
probably null |
Het |
| Btbd7 |
G |
A |
12: 102,761,451 (GRCm39) |
P578L |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,714,398 (GRCm39) |
M2660I |
unknown |
Het |
| Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,391,989 (GRCm39) |
D410G |
probably benign |
Het |
| Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,151,317 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,814,755 (GRCm39) |
I2703V |
probably benign |
Het |
| Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
| Iqcg |
G |
A |
16: 32,870,378 (GRCm39) |
|
silent |
Het |
| Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
| Lipo5 |
G |
T |
19: 33,445,200 (GRCm39) |
T123N |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,900,765 (GRCm39) |
V313D |
probably damaging |
Het |
| Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
| Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
| Or5aq1 |
C |
T |
2: 86,966,158 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
| Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
| Rasal3 |
A |
T |
17: 32,611,125 (GRCm39) |
L912Q |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,153,564 (GRCm39) |
V2247M |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,079,668 (GRCm39) |
H832R |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,705,737 (GRCm39) |
V1278A |
probably damaging |
Het |
| Sstr3 |
C |
A |
15: 78,424,577 (GRCm39) |
V57L |
probably damaging |
Het |
| Tex2 |
T |
A |
11: 106,435,078 (GRCm39) |
R783W |
unknown |
Het |
| Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
| Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,623 (GRCm39) |
N764K |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,106,434 (GRCm39) |
I471F |
probably damaging |
Het |
| Wdr25 |
G |
A |
12: 108,864,346 (GRCm39) |
V164M |
probably damaging |
Het |
| Zdhhc13 |
T |
A |
7: 48,452,692 (GRCm39) |
L5M |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
probably benign |
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 |
|
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'- GGTAGGTATGATTGCCACACAC -3'
(R):5'- TTTCAGAGCCAGATGAAGTCAGAG -3'
Sequencing Primer
(F):5'- TAGGTATGATTGCCACACACATACTC -3'
(R):5'- CCAGATGAAGTCAGAGCTGGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation