Incidental Mutation 'R8965:Trim38'
| ID |
682691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim38
|
| Ensembl Gene |
ENSMUSG00000064140 |
| Gene Name |
tripartite motif-containing 38 |
| Synonyms |
LOC214158 |
| MMRRC Submission |
068799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R8965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
23962483-23975721 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23975006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 315
(L315S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074067]
[ENSMUST00000223911]
[ENSMUST00000226039]
|
| AlphaFold |
Q5SZ99 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074067
AA Change: L315S
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073709
Gene: ENSMUSG00000064140
AA Change: L315S
| 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 benign
Transcript: ENSMUST00000223911
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226039
AA Change: L315S
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,760,723 (GRCm39) |
I1260K |
probably benign |
Het |
| Ace3 |
G |
T |
11: 105,896,175 (GRCm39) |
C707F |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,839,761 (GRCm39) |
H224R |
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,107,612 (GRCm39) |
D669G |
probably benign |
Het |
| Cdk5rap2 |
A |
C |
4: 70,185,042 (GRCm39) |
V1136G |
probably benign |
Het |
| Cntnap4 |
T |
A |
8: 113,479,646 (GRCm39) |
V277E |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,186 (GRCm39) |
L416P |
possibly damaging |
Het |
| Dnah17 |
T |
G |
11: 117,915,492 (GRCm39) |
T4376P |
probably damaging |
Het |
| E4f1 |
C |
T |
17: 24,664,504 (GRCm39) |
V429M |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,531,738 (GRCm39) |
D419E |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,296,990 (GRCm39) |
E451G |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,118,469 (GRCm39) |
Y181H |
probably damaging |
Het |
| Igkv2-109 |
A |
T |
6: 68,280,112 (GRCm39) |
Y111F |
probably damaging |
Het |
| Lztr1 |
T |
C |
16: 17,327,296 (GRCm39) |
|
probably null |
Het |
| Myh13 |
A |
T |
11: 67,255,432 (GRCm39) |
M1601L |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,901 (GRCm39) |
I207F |
possibly damaging |
Het |
| Or2w2 |
T |
C |
13: 21,758,387 (GRCm39) |
T80A |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,314 (GRCm39) |
L130P |
probably damaging |
Het |
| P2rx1 |
T |
C |
11: 72,900,051 (GRCm39) |
V156A |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,791,134 (GRCm39) |
N444S |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,257,815 (GRCm39) |
Y559H |
probably damaging |
Het |
| Pcna |
T |
C |
2: 132,094,769 (GRCm39) |
D63G |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
| Peli1 |
T |
C |
11: 21,098,488 (GRCm39) |
Y408H |
probably damaging |
Het |
| Psma5 |
T |
A |
3: 108,172,510 (GRCm39) |
|
probably null |
Het |
| Ptpn11 |
G |
A |
5: 121,301,229 (GRCm39) |
T205M |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,851 (GRCm39) |
L453P |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,671,982 (GRCm39) |
V910A |
possibly damaging |
Het |
| Spaca6 |
A |
G |
17: 18,058,718 (GRCm39) |
T306A |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,680,009 (GRCm39) |
Y422* |
probably null |
Het |
| Svop |
A |
G |
5: 114,173,271 (GRCm39) |
Y367H |
probably benign |
Het |
| Trgv3 |
T |
A |
13: 19,427,180 (GRCm39) |
L21Q |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,901,797 (GRCm39) |
Y521N |
possibly damaging |
Het |
| Vcam1 |
T |
A |
3: 115,922,422 (GRCm39) |
K34* |
probably null |
Het |
| Vwa1 |
A |
T |
4: 155,857,440 (GRCm39) |
Y119* |
probably null |
Het |
| Vwa5b2 |
A |
G |
16: 20,415,076 (GRCm39) |
H366R |
possibly damaging |
Het |
| Wac |
C |
A |
18: 7,905,936 (GRCm39) |
Q168K |
probably benign |
Het |
| Wipf2 |
A |
G |
11: 98,783,497 (GRCm39) |
S308G |
probably benign |
Het |
| Zbtb25 |
A |
C |
12: 76,396,577 (GRCm39) |
I215S |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,155 (GRCm39) |
S71P |
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 |
|
R6538:Trim38
|
UTSW |
13 |
23,969,932 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- GGCTTACAATAGGCATGGTGATTTTC -3'
(R):5'- AAGCCCCTGTGCACATTCTC -3'
Sequencing Primer
(F):5'- AGGTACTTTATATATGGTTTGCACAG -3'
(R):5'- TGTGCACATTCTCTACACAGAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation