Incidental Mutation 'R4198:Trim29'
ID |
318636 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim29
|
Ensembl Gene |
ENSMUSG00000032013 |
Gene Name |
tripartite motif-containing 29 |
Synonyms |
4732461M22Rik, 1110047J21Rik, 2810431N19Rik |
MMRRC Submission |
041640-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4198 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
43222145-43247412 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 43222677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 169
(E169*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034511]
|
AlphaFold |
Q8R2Q0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034511
AA Change: E169*
|
SMART Domains |
Protein: ENSMUSP00000034511 Gene: ENSMUSG00000032013 AA Change: E169*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
G |
A |
1: 58,124,766 (GRCm39) |
M1002I |
probably benign |
Het |
Ap2b1 |
C |
A |
11: 83,233,429 (GRCm39) |
Q481K |
probably damaging |
Het |
Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,463,434 (GRCm39) |
D989G |
probably damaging |
Het |
Ccny |
G |
A |
18: 9,332,928 (GRCm39) |
T201I |
probably damaging |
Het |
Cdca5 |
T |
C |
19: 6,140,382 (GRCm39) |
V181A |
possibly damaging |
Het |
Ces1g |
A |
G |
8: 94,032,496 (GRCm39) |
I488T |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,404,717 (GRCm39) |
T2368A |
probably benign |
Het |
Cux1 |
T |
A |
5: 136,315,702 (GRCm39) |
I1113F |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
Fyco1 |
T |
C |
9: 123,655,699 (GRCm39) |
N1020D |
probably benign |
Het |
Gprc5c |
T |
G |
11: 114,754,686 (GRCm39) |
L121R |
probably damaging |
Het |
Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
Kera |
T |
C |
10: 97,448,835 (GRCm39) |
*352Q |
probably null |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lnpk |
T |
C |
2: 74,399,453 (GRCm39) |
E30G |
probably damaging |
Het |
Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
Or1o2 |
T |
A |
17: 37,543,025 (GRCm39) |
M79L |
probably benign |
Het |
Or2y11 |
G |
A |
11: 49,443,461 (GRCm39) |
V296M |
possibly damaging |
Het |
Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Ror2 |
A |
G |
13: 53,264,680 (GRCm39) |
M792T |
probably benign |
Het |
Serpinb9d |
A |
G |
13: 33,386,948 (GRCm39) |
I339V |
probably benign |
Het |
Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
Snx20 |
A |
G |
8: 89,354,226 (GRCm39) |
V168A |
possibly damaging |
Het |
Sowaha |
T |
C |
11: 53,369,395 (GRCm39) |
E447G |
possibly damaging |
Het |
Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
Stx19 |
G |
T |
16: 62,643,039 (GRCm39) |
C285F |
possibly damaging |
Het |
Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
Tbkbp1 |
C |
T |
11: 97,039,894 (GRCm39) |
|
probably null |
Het |
Ttll12 |
T |
C |
15: 83,461,214 (GRCm39) |
N602D |
probably damaging |
Het |
Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
Zfp316 |
T |
C |
5: 143,240,226 (GRCm39) |
M598V |
probably benign |
Het |
Zhx2 |
A |
G |
15: 57,685,125 (GRCm39) |
I165V |
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 |
IGL02387:Trim29
|
APN |
9 |
43,236,149 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTCCAAGAAACCTCCTG -3'
(R):5'- GATAACAGATGCAGGTCTGGTC -3'
Sequencing Primer
(F):5'- AAGAAACCTCCTGTGACCTTTG -3'
(R):5'- CTGACAGAAGAGCTCCATAGTCTTG -3'
|
Posted On |
2015-06-10 |