Incidental Mutation 'R2349:Trip4'
ID |
247395 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trip4
|
Ensembl Gene |
ENSMUSG00000032386 |
Gene Name |
thyroid hormone receptor interactor 4 |
Synonyms |
4930558E03Rik, ASC-1 |
MMRRC Submission |
040331-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.807)
|
Stock # |
R2349 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
65736212-65816076 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65773844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 246
(D246G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117083]
[ENSMUST00000119245]
[ENSMUST00000122410]
[ENSMUST00000179395]
|
AlphaFold |
Q9QXN3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000117083
AA Change: D246G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000113949 Gene: ENSMUSG00000032386 AA Change: D246G
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 benign
Transcript: ENSMUST00000119245
AA Change: D246G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000112385 Gene: ENSMUSG00000032386 AA Change: D246G
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 |
probably benign
Transcript: ENSMUST00000122410
AA Change: D246G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000112866 Gene: ENSMUSG00000032386 AA Change: D246G
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 |
probably benign
Transcript: ENSMUST00000179395
AA Change: D246G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000137304 Gene: ENSMUSG00000032386 AA Change: D246G
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 |
|
Meta Mutation Damage Score |
0.0596 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (34/34) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,105,415 (GRCm39) |
K77E |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,693,948 (GRCm39) |
I507N |
probably damaging |
Het |
Atg16l2 |
T |
C |
7: 100,945,746 (GRCm39) |
K231E |
probably damaging |
Het |
C1s1 |
C |
A |
6: 124,518,432 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,066,263 (GRCm39) |
T1739A |
probably benign |
Het |
Col15a1 |
G |
A |
4: 47,306,742 (GRCm39) |
M289I |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,956,774 (GRCm39) |
R350C |
probably damaging |
Het |
Dbx2 |
A |
G |
15: 95,522,840 (GRCm39) |
V289A |
probably benign |
Het |
Esam |
A |
C |
9: 37,439,527 (GRCm39) |
Q4P |
probably benign |
Het |
Galnt1 |
A |
G |
18: 24,413,085 (GRCm39) |
M462V |
probably benign |
Het |
Got1l1 |
T |
C |
8: 27,687,959 (GRCm39) |
T357A |
probably benign |
Het |
Gpr182 |
T |
A |
10: 127,586,806 (GRCm39) |
K48N |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,349,956 (GRCm39) |
|
probably benign |
Het |
Ifi209 |
G |
A |
1: 173,470,122 (GRCm39) |
V237M |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,941,198 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,091,279 (GRCm39) |
M2520T |
probably benign |
Het |
Krt222 |
A |
G |
11: 99,129,591 (GRCm39) |
|
probably benign |
Het |
Nkx2-9 |
A |
G |
12: 56,659,007 (GRCm39) |
L69P |
probably benign |
Het |
Papss1 |
A |
G |
3: 131,305,627 (GRCm39) |
D203G |
probably benign |
Het |
Pex13 |
A |
G |
11: 23,605,789 (GRCm39) |
M147T |
probably damaging |
Het |
Pkd1l1 |
A |
T |
11: 8,776,819 (GRCm39) |
|
probably null |
Het |
Rac2 |
A |
G |
15: 78,449,675 (GRCm39) |
V85A |
possibly damaging |
Het |
Rock2 |
A |
G |
12: 17,027,616 (GRCm39) |
N127S |
probably benign |
Het |
Sfswap |
C |
T |
5: 129,646,802 (GRCm39) |
R875C |
possibly damaging |
Het |
Slco5a1 |
C |
T |
1: 12,991,376 (GRCm39) |
V438M |
probably damaging |
Het |
Thsd4 |
A |
G |
9: 59,879,798 (GRCm39) |
Y620H |
probably benign |
Het |
Usp10 |
T |
C |
8: 120,683,448 (GRCm39) |
*88R |
probably null |
Het |
Vars1 |
A |
G |
17: 35,234,728 (GRCm39) |
I1186V |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,864,808 (GRCm39) |
D3039G |
possibly damaging |
Het |
Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
Xpo6 |
A |
T |
7: 125,712,875 (GRCm39) |
V701E |
probably benign |
Het |
|
Other mutations in Trip4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Trip4
|
APN |
9 |
65,740,692 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAATCTCTAAACCAATTCCCTGGC -3'
(R):5'- CCATTGATGTCAAACACCACTTGC -3'
Sequencing Primer
(F):5'- CTGGCTCCCCAAATTAAAACATTTG -3'
(R):5'- AAACACCACTTGCTGCTGGTTG -3'
|
Posted On |
2014-11-11 |