Incidental Mutation 'IGL02289:Trim42'
ID |
290034 |
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: 0.058)
|
Stock # |
IGL02289
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
97231615-97252011 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97241286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 649
(R649C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035026]
|
AlphaFold |
Q9D2H5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035026
AA Change: R649C
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035026 Gene: ENSMUSG00000032451 AA Change: R649C
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: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
T |
A |
1: 156,457,424 (GRCm39) |
V230E |
probably damaging |
Het |
Dnajc10 |
C |
A |
2: 80,170,870 (GRCm39) |
H454N |
probably damaging |
Het |
Dsel |
C |
T |
1: 111,787,832 (GRCm39) |
W901* |
probably null |
Het |
Eeig1 |
A |
T |
2: 32,456,367 (GRCm39) |
Q343L |
possibly damaging |
Het |
Frk |
A |
C |
10: 34,360,362 (GRCm39) |
E121A |
probably damaging |
Het |
Mapk7 |
G |
T |
11: 61,380,785 (GRCm39) |
|
probably null |
Het |
Matn1 |
A |
T |
4: 130,679,146 (GRCm39) |
|
probably benign |
Het |
Nup155 |
T |
C |
15: 8,160,977 (GRCm39) |
L554P |
probably damaging |
Het |
Or2b7 |
C |
T |
13: 21,739,758 (GRCm39) |
V145I |
probably benign |
Het |
Or8k32 |
A |
T |
2: 86,368,792 (GRCm39) |
F156I |
probably benign |
Het |
Or8k37 |
A |
G |
2: 86,469,863 (GRCm39) |
L63P |
probably damaging |
Het |
Pdia2 |
T |
C |
17: 26,416,864 (GRCm39) |
E164G |
possibly damaging |
Het |
Robo4 |
G |
A |
9: 37,319,496 (GRCm39) |
G582D |
probably damaging |
Het |
Stat3 |
A |
T |
11: 100,796,720 (GRCm39) |
V110E |
possibly damaging |
Het |
Vmn2r69 |
T |
A |
7: 85,056,054 (GRCm39) |
I695F |
probably damaging |
Het |
|
Other mutations in Trim42 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02987:Trim42
|
APN |
9 |
97,247,868 (GRCm39) |
missense |
probably benign |
0.28 |
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 |
2015-04-16 |