Incidental Mutation 'E0370:Trip13'
ID |
206416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trip13
|
Ensembl Gene |
ENSMUSG00000021569 |
Gene Name |
thyroid hormone receptor interactor 13 |
Synonyms |
D13Ertd328e, 2410002G23Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
E0370 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
74060577-74085855 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 74068558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022053
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022053]
[ENSMUST00000222156]
|
AlphaFold |
Q3UA06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022053
|
SMART Domains |
Protein: ENSMUSP00000022053 Gene: ENSMUSG00000021569
Domain | Start | End | E-Value | Type |
AAA
|
171 |
323 |
1.13e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175516
|
Predicted Effect |
unknown
Transcript: ENSMUST00000222156
AA Change: S18P
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.1%
|
Validation Efficiency |
100% (33/33) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality, infertility, reduced gonad size, tail defects and meiotic arrest of sperm and oocytes associated with unrepaired double strand breaks. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
TGCAGCGACTGGACGGCGGCA |
TGCA |
11: 70,507,252 (GRCm39) |
|
probably null |
Het |
Aire |
T |
A |
10: 77,877,897 (GRCm39) |
N180I |
probably damaging |
Het |
Asic3 |
G |
T |
5: 24,618,985 (GRCm39) |
L92F |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,984,352 (GRCm39) |
D4455N |
probably damaging |
Het |
Cd36 |
A |
T |
5: 17,990,747 (GRCm39) |
C464* |
probably null |
Het |
Cdx1 |
A |
C |
18: 61,153,501 (GRCm39) |
I179S |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,406,441 (GRCm39) |
|
probably null |
Het |
Dst |
A |
T |
1: 34,288,552 (GRCm39) |
|
probably benign |
Het |
Epb41l3 |
A |
G |
17: 69,581,799 (GRCm39) |
N580S |
possibly damaging |
Het |
Hnrnpm |
A |
T |
17: 33,877,896 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
G |
7: 125,449,474 (GRCm39) |
D846G |
probably benign |
Het |
Map2 |
A |
T |
1: 66,455,883 (GRCm39) |
|
probably benign |
Het |
Mapk11 |
T |
C |
15: 89,030,716 (GRCm39) |
D88G |
probably damaging |
Het |
Mbd4 |
C |
T |
6: 115,826,116 (GRCm39) |
E271K |
possibly damaging |
Het |
Mpp4 |
T |
G |
1: 59,178,917 (GRCm39) |
|
probably benign |
Het |
Mtarc1 |
T |
C |
1: 184,527,425 (GRCm39) |
|
probably benign |
Het |
Muc2 |
T |
C |
7: 141,282,598 (GRCm39) |
Y609H |
probably damaging |
Het |
Or8b3b |
A |
T |
9: 38,583,857 (GRCm39) |
D307E |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,681,614 (GRCm39) |
|
probably null |
Het |
Prdm11 |
T |
C |
2: 92,810,924 (GRCm39) |
Y225C |
probably damaging |
Het |
Psmc3 |
T |
A |
2: 90,885,463 (GRCm39) |
|
probably null |
Het |
Slc26a8 |
A |
T |
17: 28,861,361 (GRCm39) |
D774E |
possibly damaging |
Het |
Slc9a2 |
A |
T |
1: 40,802,701 (GRCm39) |
|
probably null |
Het |
Smc1b |
A |
G |
15: 85,011,782 (GRCm39) |
Y168H |
probably damaging |
Het |
Steap1 |
T |
C |
5: 5,790,673 (GRCm39) |
R92G |
probably damaging |
Het |
Tbx22 |
T |
C |
X: 106,728,759 (GRCm39) |
I430T |
probably benign |
Het |
Tfap4 |
T |
A |
16: 4,377,334 (GRCm39) |
H16L |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,897,917 (GRCm39) |
D855G |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn2r121 |
A |
G |
X: 123,037,617 (GRCm39) |
V801A |
probably benign |
Het |
Wiz |
C |
T |
17: 32,574,092 (GRCm39) |
R935Q |
probably damaging |
Het |
|
Other mutations in Trip13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03094:Trip13
|
APN |
13 |
74,081,075 (GRCm39) |
missense |
probably benign |
0.00 |
R0153:Trip13
|
UTSW |
13 |
74,068,183 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1945:Trip13
|
UTSW |
13 |
74,076,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R3880:Trip13
|
UTSW |
13 |
74,066,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R4206:Trip13
|
UTSW |
13 |
74,081,009 (GRCm39) |
missense |
probably benign |
0.00 |
R5758:Trip13
|
UTSW |
13 |
74,085,614 (GRCm39) |
missense |
probably benign |
0.00 |
R6278:Trip13
|
UTSW |
13 |
74,061,439 (GRCm39) |
missense |
probably benign |
0.00 |
R6298:Trip13
|
UTSW |
13 |
74,084,378 (GRCm39) |
nonsense |
probably null |
|
R7106:Trip13
|
UTSW |
13 |
74,062,651 (GRCm39) |
missense |
probably benign |
0.04 |
R7159:Trip13
|
UTSW |
13 |
74,068,130 (GRCm39) |
missense |
probably benign |
0.04 |
R7544:Trip13
|
UTSW |
13 |
74,081,021 (GRCm39) |
missense |
probably benign |
0.00 |
R8035:Trip13
|
UTSW |
13 |
74,061,373 (GRCm39) |
missense |
probably benign |
|
R8488:Trip13
|
UTSW |
13 |
74,081,032 (GRCm39) |
missense |
probably benign |
|
R8720:Trip13
|
UTSW |
13 |
74,063,590 (GRCm39) |
missense |
probably benign |
|
R8881:Trip13
|
UTSW |
13 |
74,077,795 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8915:Trip13
|
UTSW |
13 |
74,081,085 (GRCm39) |
missense |
probably benign |
|
R9555:Trip13
|
UTSW |
13 |
74,084,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCAACACCAAGTGAGAGG -3'
(R):5'- GTGCACTTGAGGTCACTTGC -3'
Sequencing Primer
(F):5'- GGCTCAGGCAGAAACAGC -3'
(R):5'- GACAGATGTCTCAGGTATCCACGTC -3'
|
Posted On |
2014-06-23 |