Incidental Mutation 'IGL00964:Trim41'
| ID |
28608 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00964
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
48697231-48708180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48703190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 79
(R79S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047145]
[ENSMUST00000131888]
[ENSMUST00000140800]
|
| AlphaFold |
Q5NCC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047145
AA Change: R282S
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365
AA Change: R282S
| 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 |
possibly damaging
Transcript: ENSMUST00000131888
AA Change: R11S
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119707
Gene: ENSMUSG00000040365
AA Change: R11S
| 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 |
possibly damaging
Transcript: ENSMUST00000140800
AA Change: R79S
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121705
Gene: ENSMUSG00000040365
AA Change: R79S
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
T |
A |
7: 44,009,610 (GRCm39) |
*197C |
probably null |
Het |
| Acsl6 |
A |
G |
11: 54,216,472 (GRCm39) |
Y213C |
probably damaging |
Het |
| Agt |
T |
C |
8: 125,284,634 (GRCm39) |
|
probably benign |
Het |
| Aifm3 |
A |
G |
16: 17,318,228 (GRCm39) |
D144G |
probably damaging |
Het |
| Alad |
T |
C |
4: 62,432,330 (GRCm39) |
I32V |
probably benign |
Het |
| Astn2 |
T |
A |
4: 66,103,424 (GRCm39) |
M330L |
unknown |
Het |
| AU040320 |
T |
A |
4: 126,748,199 (GRCm39) |
C1029* |
probably null |
Het |
| Brca2 |
T |
A |
5: 150,455,775 (GRCm39) |
I172N |
probably damaging |
Het |
| Brme1 |
T |
C |
8: 84,893,343 (GRCm39) |
I170T |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,800,765 (GRCm39) |
|
probably null |
Het |
| Dusp26 |
G |
T |
8: 31,584,136 (GRCm39) |
R81L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,174,881 (GRCm39) |
|
probably benign |
Het |
| Ehd4 |
A |
G |
2: 119,958,163 (GRCm39) |
C141R |
probably benign |
Het |
| Ftsj3 |
G |
T |
11: 106,143,941 (GRCm39) |
A261D |
probably benign |
Het |
| Gm5431 |
G |
A |
11: 48,780,094 (GRCm39) |
T554I |
probably damaging |
Het |
| Hyls1 |
A |
G |
9: 35,473,408 (GRCm39) |
|
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,421,518 (GRCm39) |
T124S |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,264,638 (GRCm39) |
I457N |
probably damaging |
Het |
| Klk1b1 |
T |
G |
7: 43,620,593 (GRCm39) |
S228A |
possibly damaging |
Het |
| Lpar2 |
T |
C |
8: 70,279,162 (GRCm39) |
S319P |
probably benign |
Het |
| Lsr |
T |
C |
7: 30,671,421 (GRCm39) |
N104S |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,391,604 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,532,796 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
G |
A |
2: 144,147,599 (GRCm39) |
A217V |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,415,784 (GRCm39) |
Q447L |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,335,726 (GRCm39) |
I453T |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,916,793 (GRCm39) |
W1037* |
probably null |
Het |
| Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,740,802 (GRCm39) |
I2995T |
probably benign |
Het |
| Slamf6 |
T |
A |
1: 171,745,347 (GRCm39) |
C25S |
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,347,527 (GRCm39) |
Q229H |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,248,714 (GRCm39) |
N520T |
probably damaging |
Het |
| Spr-ps1 |
C |
A |
6: 85,132,016 (GRCm39) |
|
noncoding transcript |
Het |
| Stx4a |
A |
G |
7: 127,441,898 (GRCm39) |
Q92R |
probably benign |
Het |
| Tab2 |
A |
C |
10: 7,785,837 (GRCm39) |
V638G |
probably benign |
Het |
| Ttll5 |
A |
G |
12: 85,896,057 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,404,203 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
T |
A |
17: 5,762,756 (GRCm39) |
L220Q |
probably damaging |
Het |
|
| Other mutations in Trim41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation