Incidental Mutation 'IGL00915:Trim38'
| ID |
28839 |
| 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: 0.050)
|
| Stock # |
IGL00915
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23962483-23975721 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23975015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 318
(Y318F)
|
| 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: Y318F
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073709
Gene: ENSMUSG00000064140
AA Change: Y318F
| 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: Y318F
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,593,220 (GRCm39) |
Y206N |
probably damaging |
Het |
| Aebp2 |
A |
G |
6: 140,587,980 (GRCm39) |
N350S |
probably benign |
Het |
| Cerkl |
A |
G |
2: 79,171,843 (GRCm39) |
S367P |
probably benign |
Het |
| Ddx60 |
T |
G |
8: 62,440,465 (GRCm39) |
V1039G |
possibly damaging |
Het |
| Fstl4 |
A |
T |
11: 53,067,825 (GRCm39) |
M563L |
probably benign |
Het |
| Fzd9 |
C |
T |
5: 135,278,323 (GRCm39) |
V521M |
probably damaging |
Het |
| Gorab |
C |
T |
1: 163,224,426 (GRCm39) |
R125Q |
probably benign |
Het |
| Macc1 |
G |
A |
12: 119,410,749 (GRCm39) |
D506N |
probably benign |
Het |
| Mettl17 |
C |
A |
14: 52,124,746 (GRCm39) |
F119L |
probably benign |
Het |
| Nbas |
C |
A |
12: 13,424,753 (GRCm39) |
C997* |
probably null |
Het |
| Neil1 |
A |
G |
9: 57,051,261 (GRCm39) |
|
probably null |
Het |
| Or2r11 |
A |
G |
6: 42,437,884 (GRCm39) |
I23T |
probably benign |
Het |
| Prune2 |
A |
G |
19: 16,993,617 (GRCm39) |
E185G |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,442 (GRCm39) |
S1522P |
probably damaging |
Het |
| Scd1 |
A |
G |
19: 44,388,796 (GRCm39) |
L218P |
possibly damaging |
Het |
| Setdb1 |
A |
T |
3: 95,254,099 (GRCm39) |
F234L |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,741,367 (GRCm39) |
S473P |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,849,999 (GRCm39) |
S710G |
probably benign |
Het |
| Srp72 |
C |
A |
5: 77,126,460 (GRCm39) |
C87* |
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,412,283 (GRCm39) |
I272K |
possibly damaging |
Het |
| Trnt1 |
A |
G |
6: 106,756,387 (GRCm39) |
K433E |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,227,724 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,575,986 (GRCm39) |
F857L |
possibly damaging |
Het |
| Vps45 |
A |
G |
3: 95,953,662 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,310,583 (GRCm39) |
I989F |
probably damaging |
Het |
|
| Other mutations in Trim38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation