Incidental Mutation 'IGL02387:Trim29'
ID |
291601 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim29
|
Ensembl Gene |
ENSMUSG00000032013 |
Gene Name |
tripartite motif-containing 29 |
Synonyms |
4732461M22Rik, 1110047J21Rik, 2810431N19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02387
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
43222145-43247412 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43236149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 460
(N460I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034511]
|
AlphaFold |
Q8R2Q0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034511
AA Change: N460I
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000034511 Gene: ENSMUSG00000032013 AA Change: N460I
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
168 |
216 |
3e-25 |
BLAST |
BBOX
|
220 |
260 |
1.93e-11 |
SMART |
low complexity region
|
399 |
410 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217067
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217418
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [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 |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Acap3 |
T |
G |
4: 155,986,617 (GRCm39) |
L311R |
probably damaging |
Het |
Actr6 |
T |
A |
10: 89,550,846 (GRCm39) |
N316I |
probably damaging |
Het |
Adarb2 |
T |
A |
13: 8,619,994 (GRCm39) |
V160E |
probably damaging |
Het |
Atm |
A |
T |
9: 53,391,066 (GRCm39) |
|
probably null |
Het |
Atp2b4 |
T |
C |
1: 133,659,627 (GRCm39) |
N445S |
probably damaging |
Het |
Clic6 |
A |
G |
16: 92,326,807 (GRCm39) |
D464G |
probably damaging |
Het |
Clk2 |
C |
T |
3: 89,083,698 (GRCm39) |
|
probably benign |
Het |
Cyp4f40 |
A |
C |
17: 32,886,984 (GRCm39) |
T152P |
probably damaging |
Het |
Dpp8 |
A |
T |
9: 64,952,998 (GRCm39) |
I225F |
probably damaging |
Het |
Dspp |
A |
G |
5: 104,323,490 (GRCm39) |
Q211R |
possibly damaging |
Het |
Gja1 |
T |
A |
10: 56,263,902 (GRCm39) |
V87E |
possibly damaging |
Het |
Gm8165 |
T |
C |
14: 43,913,696 (GRCm39) |
E56G |
possibly damaging |
Het |
Gstp2 |
T |
A |
19: 4,091,094 (GRCm39) |
|
probably benign |
Het |
Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
Insrr |
G |
A |
3: 87,720,434 (GRCm39) |
R1024H |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,826,209 (GRCm39) |
W538R |
probably benign |
Het |
Lrrc71 |
T |
C |
3: 87,650,378 (GRCm39) |
I232V |
probably damaging |
Het |
Mphosph8 |
T |
A |
14: 56,933,178 (GRCm39) |
N808K |
probably damaging |
Het |
Or8h10 |
T |
A |
2: 86,808,193 (GRCm39) |
R316* |
probably null |
Het |
Pak6 |
T |
C |
2: 118,523,714 (GRCm39) |
S290P |
probably benign |
Het |
Ptpro |
C |
T |
6: 137,387,978 (GRCm39) |
A734V |
probably damaging |
Het |
Reg1 |
A |
T |
6: 78,404,321 (GRCm39) |
N65I |
probably damaging |
Het |
Rnf17 |
T |
G |
14: 56,738,044 (GRCm39) |
I1275S |
probably damaging |
Het |
Sfrp5 |
C |
T |
19: 42,187,468 (GRCm39) |
V201I |
probably benign |
Het |
Sgsm1 |
T |
A |
5: 113,400,929 (GRCm39) |
H987L |
possibly damaging |
Het |
Shank1 |
A |
T |
7: 44,006,361 (GRCm39) |
Y2026F |
possibly damaging |
Het |
Slc15a2 |
T |
C |
16: 36,572,137 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Taar8a |
T |
A |
10: 23,953,260 (GRCm39) |
I288N |
possibly damaging |
Het |
Tpbpb |
T |
G |
13: 61,049,668 (GRCm39) |
*121C |
probably null |
Het |
Trp53tg5 |
T |
A |
2: 164,313,376 (GRCm39) |
I100F |
possibly damaging |
Het |
Ubr2 |
T |
C |
17: 47,274,076 (GRCm39) |
T871A |
probably benign |
Het |
Vrk1 |
A |
G |
12: 106,036,803 (GRCm39) |
E363G |
probably damaging |
Het |
Zfyve19 |
C |
T |
2: 119,046,907 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Trim29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02364:Trim29
|
APN |
9 |
43,222,599 (GRCm39) |
missense |
probably benign |
0.05 |
R1770:Trim29
|
UTSW |
9 |
43,243,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R1883:Trim29
|
UTSW |
9 |
43,222,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Trim29
|
UTSW |
9 |
43,222,615 (GRCm39) |
missense |
probably benign |
|
R4198:Trim29
|
UTSW |
9 |
43,222,677 (GRCm39) |
nonsense |
probably null |
|
R4200:Trim29
|
UTSW |
9 |
43,222,677 (GRCm39) |
nonsense |
probably null |
|
R4303:Trim29
|
UTSW |
9 |
43,222,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Trim29
|
UTSW |
9 |
43,240,872 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4934:Trim29
|
UTSW |
9 |
43,222,265 (GRCm39) |
missense |
probably benign |
0.36 |
R6171:Trim29
|
UTSW |
9 |
43,230,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R6737:Trim29
|
UTSW |
9 |
43,230,681 (GRCm39) |
missense |
probably benign |
0.01 |
R6972:Trim29
|
UTSW |
9 |
43,238,409 (GRCm39) |
missense |
probably benign |
0.01 |
R7191:Trim29
|
UTSW |
9 |
43,222,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R7434:Trim29
|
UTSW |
9 |
43,246,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R7588:Trim29
|
UTSW |
9 |
43,246,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R7590:Trim29
|
UTSW |
9 |
43,222,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R8781:Trim29
|
UTSW |
9 |
43,222,615 (GRCm39) |
missense |
probably benign |
0.27 |
R8866:Trim29
|
UTSW |
9 |
43,222,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R8922:Trim29
|
UTSW |
9 |
43,233,636 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9336:Trim29
|
UTSW |
9 |
43,238,350 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9709:Trim29
|
UTSW |
9 |
43,231,797 (GRCm39) |
missense |
probably benign |
0.12 |
X0065:Trim29
|
UTSW |
9 |
43,233,621 (GRCm39) |
missense |
probably benign |
0.06 |
|
Posted On |
2015-04-16 |