Incidental Mutation 'R4462:Trim38'
| ID |
330199 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4462 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
23962483-23975721 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23975435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 458
(Y458C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074067]
[ENSMUST00000223911]
[ENSMUST00000226039]
|
| AlphaFold |
Q5SZ99 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074067
AA Change: Y458C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073709
Gene: ENSMUSG00000064140
AA Change: Y458C
| 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 |
probably null
Transcript: ENSMUST00000226039
AA Change: Y458C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
T |
6: 55,457,084 (GRCm39) |
I272F |
possibly damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,836,357 (GRCm39) |
A705V |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,893,278 (GRCm39) |
V975E |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Btnl6 |
A |
G |
17: 34,727,031 (GRCm39) |
S500P |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,368,876 (GRCm39) |
V34A |
probably damaging |
Het |
| Defa17 |
A |
G |
8: 22,146,553 (GRCm39) |
R60G |
probably benign |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Fuca2 |
T |
C |
10: 13,378,979 (GRCm39) |
V41A |
probably damaging |
Het |
| Ggt6 |
C |
A |
11: 72,328,654 (GRCm39) |
H385N |
possibly damaging |
Het |
| Hgsnat |
G |
A |
8: 26,444,664 (GRCm39) |
T428I |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,891,015 (GRCm39) |
S535P |
probably damaging |
Het |
| Or2y6 |
T |
A |
11: 52,104,801 (GRCm39) |
N5I |
probably damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,360 (GRCm39) |
F106I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,445,200 (GRCm39) |
F3691L |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,637,229 (GRCm39) |
D282G |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,167,421 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
T |
C |
11: 78,295,213 (GRCm39) |
T187A |
probably benign |
Het |
| Slco3a1 |
A |
C |
7: 74,204,311 (GRCm39) |
S10A |
probably benign |
Het |
| Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,145,813 (GRCm39) |
M1537V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGCCTTGAAGCTCTTACTTC -3'
(R):5'- TTCAAACACAGGGATCGTGC -3'
Sequencing Primer
(F):5'- GGCCTTGAAGCTCTTACTTCTACCC -3'
(R):5'- TTCAAACACAGGGATCGTGCAATATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation