Incidental Mutation 'IGL01592:Trim38'
| ID |
91608 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim38
|
| Ensembl Gene |
ENSMUSG00000064140 |
| Gene Name |
tripartite motif-containing 38 |
| Synonyms |
LOC214158 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL01592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23962483-23975721 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23975410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 450
(T450A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074067]
[ENSMUST00000223911]
[ENSMUST00000226039]
|
| AlphaFold |
Q5SZ99 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074067
AA Change: T450A
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073709
Gene: ENSMUSG00000064140
AA Change: T450A
| 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 |
noncoding transcript
Transcript: ENSMUST00000144770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223911
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226039
AA Change: T450A
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| 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 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 |
|---|
| Akap6 |
A |
G |
12: 53,188,925 (GRCm39) |
D2113G |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,868,111 (GRCm39) |
V125E |
probably damaging |
Het |
| Cdan1 |
T |
A |
2: 120,556,466 (GRCm39) |
Y653F |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,921,717 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,321,913 (GRCm39) |
N3802K |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,236,783 (GRCm39) |
I370V |
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,262,099 (GRCm39) |
E761G |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,825 (GRCm39) |
E33G |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,582,267 (GRCm39) |
D25E |
possibly damaging |
Het |
| E2f8 |
T |
C |
7: 48,517,605 (GRCm39) |
T733A |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,953,294 (GRCm39) |
E32G |
probably damaging |
Het |
| Grip1 |
T |
A |
10: 119,765,908 (GRCm39) |
V80E |
probably damaging |
Het |
| Igsf6 |
T |
C |
7: 120,670,016 (GRCm39) |
Y42C |
probably damaging |
Het |
| Katna1 |
T |
G |
10: 7,617,218 (GRCm39) |
M70R |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,309,052 (GRCm39) |
K102R |
probably benign |
Het |
| Lypla1 |
T |
A |
1: 4,898,874 (GRCm39) |
|
probably null |
Het |
| Or2z9 |
T |
A |
8: 72,854,356 (GRCm39) |
F251I |
probably damaging |
Het |
| Or6c69b |
A |
G |
10: 129,627,188 (GRCm39) |
I90T |
probably damaging |
Het |
| Pgap1 |
G |
A |
1: 54,560,470 (GRCm39) |
P444L |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,776,795 (GRCm39) |
V657M |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,803 (GRCm39) |
Y214* |
probably null |
Het |
| Polq |
A |
C |
16: 36,855,212 (GRCm39) |
I436L |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,671,909 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,381 (GRCm39) |
S84P |
probably damaging |
Het |
| Slc30a6 |
T |
A |
17: 74,726,523 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,799,496 (GRCm39) |
|
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,764,445 (GRCm39) |
K441E |
probably benign |
Het |
| Wnt8a |
A |
G |
18: 34,677,846 (GRCm39) |
T85A |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation