Incidental Mutation 'IGL00490:Trip4'
| ID |
4859 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trip4
|
| Ensembl Gene |
ENSMUSG00000032386 |
| Gene Name |
thyroid hormone receptor interactor 4 |
| Synonyms |
4930558E03Rik, ASC-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
IGL00490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65736212-65816076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65740692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 573
(G573R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117083]
[ENSMUST00000119245]
[ENSMUST00000122410]
[ENSMUST00000179395]
|
| AlphaFold |
Q9QXN3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116032
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117083
AA Change: G573R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: G573R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2HC5
|
168 |
216 |
1.7e-14 |
PFAM |
|
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
|
ASCH
|
437 |
545 |
2.63e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119245
AA Change: G573R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: G573R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2HC5
|
167 |
219 |
8.8e-22 |
PFAM |
|
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
|
ASCH
|
437 |
545 |
2.63e-5 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000122410
|
| SMART Domains |
Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2HC5
|
167 |
219 |
8e-22 |
PFAM |
|
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
|
ASCH
|
437 |
535 |
3.19e-4 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000179395
|
| SMART Domains |
Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2HC5
|
167 |
219 |
8e-22 |
PFAM |
|
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
|
ASCH
|
437 |
535 |
3.19e-4 |
SMART |
|
| 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 subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
A |
G |
4: 129,905,665 (GRCm39) |
E837G |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,171,172 (GRCm39) |
M291T |
probably benign |
Het |
| Coq8b |
C |
A |
7: 26,956,902 (GRCm39) |
H518Q |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,962,067 (GRCm39) |
D388G |
probably damaging |
Het |
| Cyp2d10 |
A |
T |
15: 82,287,515 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,763 (GRCm39) |
L99H |
probably damaging |
Het |
| Dennd1a |
G |
T |
2: 37,691,164 (GRCm39) |
D251E |
probably damaging |
Het |
| Fam210a |
G |
T |
18: 68,401,983 (GRCm39) |
T210N |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,364,572 (GRCm39) |
Q951K |
probably damaging |
Het |
| Gramd1b |
T |
A |
9: 40,221,337 (GRCm39) |
I280F |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,731,526 (GRCm39) |
K335N |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,770 (GRCm39) |
T993S |
possibly damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,747,413 (GRCm39) |
L484P |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,877,423 (GRCm39) |
V358E |
unknown |
Het |
| Mzt1 |
A |
G |
14: 99,278,106 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
C |
A |
19: 6,523,623 (GRCm39) |
H514Q |
possibly damaging |
Het |
| Nup214 |
G |
A |
2: 31,923,991 (GRCm39) |
E2K |
probably damaging |
Het |
| Pcdhb4 |
G |
T |
18: 37,442,969 (GRCm39) |
G760W |
possibly damaging |
Het |
| Ptger2 |
T |
C |
14: 45,239,198 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,669,458 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,740,621 (GRCm39) |
D46E |
probably damaging |
Het |
| Tbc1d32 |
G |
A |
10: 56,031,861 (GRCm39) |
P689L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,070,930 (GRCm39) |
W2123L |
probably damaging |
Het |
| Thg1l |
T |
C |
11: 45,845,048 (GRCm39) |
E8G |
probably benign |
Het |
| Tmem236 |
A |
G |
2: 14,224,189 (GRCm39) |
Y326C |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,762,035 (GRCm39) |
T2320I |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,816 (GRCm39) |
N435S |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,921,858 (GRCm39) |
N77D |
probably damaging |
Het |
| Uvrag |
A |
T |
7: 98,628,948 (GRCm39) |
I373N |
probably damaging |
Het |
|
| Other mutations in Trip4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00908:Trip4
|
APN |
9 |
65,782,216 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01729:Trip4
|
APN |
9 |
65,782,174 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02171:Trip4
|
APN |
9 |
65,788,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03131:Trip4
|
APN |
9 |
65,764,727 (GRCm39) |
missense |
probably benign |
|
|
R0270:Trip4
|
UTSW |
9 |
65,765,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:Trip4
|
UTSW |
9 |
65,746,286 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0735:Trip4
|
UTSW |
9 |
65,792,200 (GRCm39) |
splice site |
probably benign |
|
|
R1103:Trip4
|
UTSW |
9 |
65,788,188 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1436:Trip4
|
UTSW |
9 |
65,788,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Trip4
|
UTSW |
9 |
65,782,259 (GRCm39) |
nonsense |
probably null |
|
|
R1831:Trip4
|
UTSW |
9 |
65,765,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Trip4
|
UTSW |
9 |
65,782,163 (GRCm39) |
missense |
probably null |
1.00 |
|
R1887:Trip4
|
UTSW |
9 |
65,782,163 (GRCm39) |
missense |
probably null |
1.00 |
|
R1958:Trip4
|
UTSW |
9 |
65,746,307 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2204:Trip4
|
UTSW |
9 |
65,771,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2349:Trip4
|
UTSW |
9 |
65,773,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3729:Trip4
|
UTSW |
9 |
65,788,224 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3907:Trip4
|
UTSW |
9 |
65,740,708 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4089:Trip4
|
UTSW |
9 |
65,765,565 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4879:Trip4
|
UTSW |
9 |
65,782,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4913:Trip4
|
UTSW |
9 |
65,765,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Trip4
|
UTSW |
9 |
65,773,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6189:Trip4
|
UTSW |
9 |
65,786,434 (GRCm39) |
nonsense |
probably null |
|
|
R6460:Trip4
|
UTSW |
9 |
65,788,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Trip4
|
UTSW |
9 |
65,792,292 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7139:Trip4
|
UTSW |
9 |
65,792,503 (GRCm39) |
start gained |
probably benign |
|
|
R7180:Trip4
|
UTSW |
9 |
65,764,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Trip4
|
UTSW |
9 |
65,773,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Trip4
|
UTSW |
9 |
65,782,155 (GRCm39) |
nonsense |
probably null |
|
|
R7970:Trip4
|
UTSW |
9 |
65,746,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Trip4
|
UTSW |
9 |
65,760,234 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9647:Trip4
|
UTSW |
9 |
65,765,616 (GRCm39) |
nonsense |
probably null |
|
|
R9659:Trip4
|
UTSW |
9 |
65,740,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9788:Trip4
|
UTSW |
9 |
65,740,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Trip4
|
UTSW |
9 |
65,771,697 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Trip4
|
UTSW |
9 |
65,771,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Trip4
|
UTSW |
9 |
65,746,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation