Incidental Mutation 'R6538:Trim38'
| ID |
520556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim38
|
| Ensembl Gene |
ENSMUSG00000064140 |
| Gene Name |
tripartite motif-containing 38 |
| Synonyms |
LOC214158 |
| MMRRC Submission |
044664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R6538 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
23962483-23975721 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23969932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 164
(T164S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074067]
[ENSMUST00000223911]
[ENSMUST00000226039]
|
| AlphaFold |
Q5SZ99 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074067
AA Change: T164S
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073709
Gene: ENSMUSG00000064140
AA Change: T164S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
61 |
8.95e-7 |
SMART |
|
BBOX
|
90 |
131 |
4.34e-5 |
SMART |
|
coiled coil region
|
202 |
249 |
N/A |
INTRINSIC |
|
PRY
|
293 |
347 |
2.31e-9 |
SMART |
|
SPRY
|
348 |
469 |
6.71e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223911
AA Change: T164S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226039
AA Change: T164S
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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 encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased poly(I:C) and LPS-induced IFN-beta, TNFalpha and IL6 with increased induced mortality induced by poly(I:C), LPS or S. typhimurium infection, [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
G |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Abcd4 |
T |
A |
12: 84,658,535 (GRCm39) |
M223L |
probably benign |
Het |
| Adat1 |
T |
C |
8: 112,695,094 (GRCm39) |
I482V |
probably benign |
Het |
| Adrm1b |
C |
T |
3: 92,336,562 (GRCm39) |
V47M |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,735,541 (GRCm39) |
|
probably null |
Het |
| Atn1 |
A |
G |
6: 124,723,512 (GRCm39) |
|
probably benign |
Het |
| Cyb561d2 |
C |
A |
9: 107,417,216 (GRCm39) |
M178I |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,412,550 (GRCm39) |
H30L |
unknown |
Het |
| Dnah2 |
T |
C |
11: 69,328,023 (GRCm39) |
I3367V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,802,762 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Gm7298 |
G |
T |
6: 121,753,132 (GRCm39) |
V870L |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,856 (GRCm39) |
S639G |
probably damaging |
Het |
| H1f6 |
A |
G |
13: 23,879,904 (GRCm39) |
E19G |
probably benign |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,685 (GRCm39) |
T72S |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,219,953 (GRCm39) |
H76L |
probably damaging |
Het |
| Lamp1 |
A |
G |
8: 13,221,285 (GRCm39) |
T209A |
probably benign |
Het |
| Lrrc9 |
T |
A |
12: 72,547,703 (GRCm39) |
Y1294N |
probably benign |
Het |
| Or2b11 |
C |
T |
11: 59,462,411 (GRCm39) |
V52I |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,869 (GRCm39) |
T258S |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,493,853 (GRCm39) |
Y272H |
probably damaging |
Het |
| Spindoc |
T |
C |
19: 7,360,064 (GRCm39) |
I35V |
probably benign |
Het |
| St6galnac4 |
A |
C |
2: 32,487,090 (GRCm39) |
M262L |
possibly damaging |
Het |
| Szt2 |
C |
T |
4: 118,247,674 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
T |
C |
13: 120,702,468 (GRCm39) |
V88A |
possibly damaging |
Het |
| Trem1 |
T |
C |
17: 48,544,118 (GRCm39) |
Y48H |
possibly damaging |
Het |
| Zfp715 |
A |
T |
7: 42,948,573 (GRCm39) |
H462Q |
possibly damaging |
Het |
| Zfyve16 |
C |
T |
13: 92,641,024 (GRCm39) |
G1240E |
probably damaging |
Het |
|
| Other mutations in Trim38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Trim38
|
APN |
13 |
23,975,015 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01592:Trim38
|
APN |
13 |
23,975,410 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02339:Trim38
|
APN |
13 |
23,972,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Trim38
|
APN |
13 |
23,966,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03278:Trim38
|
APN |
13 |
23,974,979 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0630:Trim38
|
UTSW |
13 |
23,975,115 (GRCm39) |
nonsense |
probably null |
|
|
R1263:Trim38
|
UTSW |
13 |
23,975,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1560:Trim38
|
UTSW |
13 |
23,966,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1978:Trim38
|
UTSW |
13 |
23,975,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Trim38
|
UTSW |
13 |
23,975,474 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4462:Trim38
|
UTSW |
13 |
23,975,435 (GRCm39) |
missense |
probably null |
1.00 |
|
R4649:Trim38
|
UTSW |
13 |
23,966,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Trim38
|
UTSW |
13 |
23,966,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Trim38
|
UTSW |
13 |
23,966,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Trim38
|
UTSW |
13 |
23,972,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Trim38
|
UTSW |
13 |
23,975,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5946:Trim38
|
UTSW |
13 |
23,966,717 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6974:Trim38
|
UTSW |
13 |
23,973,502 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7227:Trim38
|
UTSW |
13 |
23,969,946 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7319:Trim38
|
UTSW |
13 |
23,975,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Trim38
|
UTSW |
13 |
23,972,365 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8243:Trim38
|
UTSW |
13 |
23,975,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:Trim38
|
UTSW |
13 |
23,975,006 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9354:Trim38
|
UTSW |
13 |
23,969,875 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9573:Trim38
|
UTSW |
13 |
23,966,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCACATTTCGGAGTGCTGAG -3'
(R):5'- TCAAAGCTTCGCAGATGTAAAC -3'
Sequencing Primer
(F):5'- GGCTACTTAGTGAGTTCAAGATCACC -3'
(R):5'- CATCTAGGATATGAAAGCAGTGCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation