Incidental Mutation 'IGL02987:Trim42'
ID |
406772 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim42
|
Ensembl Gene |
ENSMUSG00000032451 |
Gene Name |
tripartite motif-containing 42 |
Synonyms |
4930486B16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL02987
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
97231615-97252011 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97247868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 276
(V276A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035026]
|
AlphaFold |
Q9D2H5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035026
AA Change: V276A
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000035026 Gene: ENSMUSG00000032451 AA Change: V276A
Domain | Start | End | E-Value | Type |
RING
|
146 |
191 |
3.67e-3 |
SMART |
BBOX
|
233 |
280 |
1.42e0 |
SMART |
BBOX
|
285 |
326 |
1.04e-2 |
SMART |
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
FN3
|
603 |
688 |
2.44e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127307
|
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 TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1e1 |
T |
C |
13: 4,643,591 (GRCm39) |
D222G |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,757,649 (GRCm39) |
Y422* |
probably null |
Het |
Asf1a |
T |
C |
10: 53,473,367 (GRCm39) |
F28L |
probably damaging |
Het |
Atp6v1c1 |
T |
A |
15: 38,690,806 (GRCm39) |
M319K |
possibly damaging |
Het |
Bsn |
A |
G |
9: 108,003,503 (GRCm39) |
S301P |
probably benign |
Het |
Cds1 |
A |
G |
5: 101,960,391 (GRCm39) |
I281V |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,476,646 (GRCm39) |
|
probably benign |
Het |
Coq2 |
G |
A |
5: 100,811,554 (GRCm39) |
Q103* |
probably null |
Het |
Dgkh |
A |
G |
14: 78,827,312 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
G |
11: 65,746,098 (GRCm39) |
I4005T |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,732,099 (GRCm39) |
R4269L |
probably benign |
Het |
F2rl1 |
T |
A |
13: 95,650,741 (GRCm39) |
Q47L |
probably benign |
Het |
Fhod3 |
T |
C |
18: 25,246,610 (GRCm39) |
V1272A |
possibly damaging |
Het |
Gdpd4 |
T |
C |
7: 97,610,758 (GRCm39) |
|
probably benign |
Het |
Gfral |
A |
G |
9: 76,104,583 (GRCm39) |
V143A |
possibly damaging |
Het |
Gltp |
A |
C |
5: 114,812,243 (GRCm39) |
F88V |
probably benign |
Het |
Hectd1 |
T |
G |
12: 51,791,550 (GRCm39) |
K2565T |
probably damaging |
Het |
Jade2 |
A |
G |
11: 51,721,308 (GRCm39) |
S207P |
probably damaging |
Het |
Khdc3 |
A |
G |
9: 73,009,948 (GRCm39) |
I53V |
possibly damaging |
Het |
Lce1a1 |
T |
C |
3: 92,554,409 (GRCm39) |
T22A |
unknown |
Het |
Lgals9 |
A |
T |
11: 78,858,303 (GRCm39) |
H196Q |
possibly damaging |
Het |
Lrrc37a |
A |
T |
11: 103,391,239 (GRCm39) |
N1395K |
probably benign |
Het |
Mast1 |
C |
T |
8: 85,652,348 (GRCm39) |
V268I |
possibly damaging |
Het |
Myh11 |
T |
G |
16: 14,050,396 (GRCm39) |
E523A |
probably damaging |
Het |
Napb |
T |
C |
2: 148,539,431 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
G |
A |
7: 23,000,858 (GRCm39) |
R51H |
probably damaging |
Het |
Ola1 |
T |
C |
2: 72,987,242 (GRCm39) |
D130G |
probably benign |
Het |
Or8c13 |
A |
T |
9: 38,091,919 (GRCm39) |
S67T |
possibly damaging |
Het |
Pard3 |
G |
A |
8: 128,115,972 (GRCm39) |
C687Y |
probably damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,109 (GRCm39) |
T164A |
possibly damaging |
Het |
Sema3a |
A |
G |
5: 13,615,863 (GRCm39) |
Y429C |
probably damaging |
Het |
Slc25a54 |
T |
C |
3: 109,023,653 (GRCm39) |
V416A |
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,940,423 (GRCm39) |
T631A |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,952,349 (GRCm39) |
C736S |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,345,074 (GRCm39) |
S1788T |
probably damaging |
Het |
|
Other mutations in Trim42 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02289:Trim42
|
APN |
9 |
97,241,286 (GRCm39) |
missense |
probably damaging |
0.97 |
R0116:Trim42
|
UTSW |
9 |
97,245,456 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0791:Trim42
|
UTSW |
9 |
97,247,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R1170:Trim42
|
UTSW |
9 |
97,245,673 (GRCm39) |
missense |
probably benign |
0.04 |
R1397:Trim42
|
UTSW |
9 |
97,247,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R1499:Trim42
|
UTSW |
9 |
97,248,138 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1522:Trim42
|
UTSW |
9 |
97,247,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R2094:Trim42
|
UTSW |
9 |
97,248,150 (GRCm39) |
missense |
probably benign |
0.23 |
R2355:Trim42
|
UTSW |
9 |
97,241,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R4621:Trim42
|
UTSW |
9 |
97,245,201 (GRCm39) |
missense |
probably benign |
|
R4649:Trim42
|
UTSW |
9 |
97,244,998 (GRCm39) |
missense |
probably benign |
0.00 |
R4840:Trim42
|
UTSW |
9 |
97,244,982 (GRCm39) |
missense |
probably benign |
0.02 |
R6147:Trim42
|
UTSW |
9 |
97,245,382 (GRCm39) |
missense |
probably benign |
|
R7048:Trim42
|
UTSW |
9 |
97,245,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R7235:Trim42
|
UTSW |
9 |
97,251,761 (GRCm39) |
missense |
probably damaging |
0.99 |
R7276:Trim42
|
UTSW |
9 |
97,251,625 (GRCm39) |
nonsense |
probably null |
|
R7390:Trim42
|
UTSW |
9 |
97,241,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Trim42
|
UTSW |
9 |
97,244,998 (GRCm39) |
missense |
probably damaging |
0.97 |
R7650:Trim42
|
UTSW |
9 |
97,245,201 (GRCm39) |
missense |
probably benign |
|
R7881:Trim42
|
UTSW |
9 |
97,245,070 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8060:Trim42
|
UTSW |
9 |
97,245,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8427:Trim42
|
UTSW |
9 |
97,245,174 (GRCm39) |
missense |
probably benign |
0.25 |
R8751:Trim42
|
UTSW |
9 |
97,251,852 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8850:Trim42
|
UTSW |
9 |
97,248,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R8856:Trim42
|
UTSW |
9 |
97,245,275 (GRCm39) |
nonsense |
probably null |
|
R8941:Trim42
|
UTSW |
9 |
97,245,100 (GRCm39) |
missense |
probably benign |
0.00 |
R9329:Trim42
|
UTSW |
9 |
97,251,584 (GRCm39) |
missense |
probably benign |
0.37 |
R9427:Trim42
|
UTSW |
9 |
97,247,874 (GRCm39) |
missense |
probably damaging |
0.99 |
R9792:Trim42
|
UTSW |
9 |
97,245,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R9793:Trim42
|
UTSW |
9 |
97,245,429 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Trim42
|
UTSW |
9 |
97,251,675 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Trim42
|
UTSW |
9 |
97,244,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |