Incidental Mutation 'R1436:Trip4'
ID |
160647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trip4
|
Ensembl Gene |
ENSMUSG00000032386 |
Gene Name |
thyroid hormone receptor interactor 4 |
Synonyms |
4930558E03Rik, ASC-1 |
MMRRC Submission |
039491-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.807)
|
Stock # |
R1436 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
65736212-65816076 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65788233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 71
(W71R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117083]
[ENSMUST00000119245]
[ENSMUST00000122410]
[ENSMUST00000134338]
[ENSMUST00000179395]
|
AlphaFold |
Q9QXN3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117083
AA Change: W71R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113949 Gene: ENSMUSG00000032386 AA Change: W71R
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: W71R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112385 Gene: ENSMUSG00000032386 AA Change: W71R
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 damaging
Transcript: ENSMUST00000122410
AA Change: W71R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112866 Gene: ENSMUSG00000032386 AA Change: W71R
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: ENSMUST00000134338
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179395
AA Change: W71R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137304 Gene: ENSMUSG00000032386 AA Change: W71R
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 |
0.1840 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
Validation Efficiency |
94% (65/69) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,621,172 (GRCm39) |
F292S |
probably benign |
Het |
Aadacl2fm3 |
A |
T |
3: 59,772,760 (GRCm39) |
D88V |
probably damaging |
Het |
Abca13 |
T |
C |
11: 9,242,646 (GRCm39) |
V1503A |
probably damaging |
Het |
AI661453 |
C |
T |
17: 47,777,627 (GRCm39) |
|
probably benign |
Het |
Ano2 |
T |
C |
6: 125,844,134 (GRCm39) |
|
probably null |
Het |
Areg |
G |
T |
5: 91,287,664 (GRCm39) |
|
probably benign |
Het |
Atg16l2 |
A |
G |
7: 100,940,757 (GRCm39) |
V453A |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,101,662 (GRCm39) |
S563P |
probably benign |
Het |
Bhmt-ps1 |
A |
G |
4: 26,369,591 (GRCm39) |
|
noncoding transcript |
Het |
Birc6 |
C |
A |
17: 74,959,700 (GRCm39) |
P3855Q |
probably damaging |
Het |
Cd151 |
A |
T |
7: 141,049,197 (GRCm39) |
K8M |
probably damaging |
Het |
Cd163 |
T |
C |
6: 124,304,890 (GRCm39) |
V1089A |
possibly damaging |
Het |
Chd3 |
A |
T |
11: 69,248,400 (GRCm39) |
|
probably null |
Het |
Cnot6l |
T |
A |
5: 96,281,971 (GRCm39) |
E9V |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,794,806 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
A |
G |
19: 39,729,484 (GRCm39) |
M1T |
probably null |
Het |
Dbp |
T |
C |
7: 45,357,879 (GRCm39) |
V149A |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,839,285 (GRCm39) |
V1241A |
probably benign |
Het |
Galnt10 |
T |
C |
11: 57,662,295 (GRCm39) |
S314P |
probably damaging |
Het |
Glce |
C |
T |
9: 61,977,292 (GRCm39) |
|
probably null |
Het |
Gm5093 |
C |
G |
17: 46,750,680 (GRCm39) |
D116H |
probably damaging |
Het |
Golim4 |
A |
G |
3: 75,785,951 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
T |
2: 180,877,317 (GRCm39) |
I1107N |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,304 (GRCm39) |
S74P |
probably benign |
Het |
Ikbkb |
T |
A |
8: 23,163,419 (GRCm39) |
N297I |
probably benign |
Het |
Il20ra |
T |
A |
10: 19,625,000 (GRCm39) |
I93N |
probably damaging |
Het |
Itch |
C |
A |
2: 155,034,065 (GRCm39) |
N412K |
probably damaging |
Het |
Kcna5 |
T |
A |
6: 126,511,724 (GRCm39) |
T135S |
probably damaging |
Het |
Lncpint |
G |
A |
6: 31,157,974 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc39 |
A |
T |
3: 116,373,293 (GRCm39) |
|
probably null |
Het |
Mad2l1 |
T |
A |
6: 66,516,797 (GRCm39) |
V163E |
possibly damaging |
Het |
Moxd1 |
C |
T |
10: 24,120,256 (GRCm39) |
T128M |
probably damaging |
Het |
Mpeg1 |
C |
T |
19: 12,439,823 (GRCm39) |
S427F |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,953,798 (GRCm39) |
Y854C |
possibly damaging |
Het |
Ncln |
C |
T |
10: 81,325,727 (GRCm39) |
E373K |
probably damaging |
Het |
Neurod4 |
T |
C |
10: 130,106,540 (GRCm39) |
T245A |
possibly damaging |
Het |
Nsun5 |
T |
C |
5: 135,399,067 (GRCm39) |
L39P |
probably damaging |
Het |
Or2ad1 |
G |
T |
13: 21,327,162 (GRCm39) |
Q22K |
probably benign |
Het |
Or4c105 |
A |
T |
2: 88,648,336 (GRCm39) |
T274S |
possibly damaging |
Het |
Or4f7 |
A |
G |
2: 111,644,906 (GRCm39) |
L55S |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,162,678 (GRCm39) |
T815A |
probably benign |
Het |
Pofut2 |
C |
T |
10: 77,104,398 (GRCm39) |
R392W |
probably damaging |
Het |
Ppip5k2 |
G |
A |
1: 97,639,507 (GRCm39) |
T1186I |
probably benign |
Het |
Rhot2 |
A |
C |
17: 26,060,374 (GRCm39) |
S277R |
probably benign |
Het |
Satb1 |
T |
G |
17: 52,111,391 (GRCm39) |
|
probably null |
Het |
Sec31b |
T |
C |
19: 44,524,634 (GRCm39) |
I88V |
probably damaging |
Het |
Selenon |
T |
A |
4: 134,267,997 (GRCm39) |
E483V |
probably damaging |
Het |
Serpinc1 |
A |
G |
1: 160,820,981 (GRCm39) |
T22A |
possibly damaging |
Het |
Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
Sf3b1 |
A |
G |
1: 55,040,580 (GRCm39) |
Y561H |
possibly damaging |
Het |
Smarcc1 |
T |
A |
9: 109,947,708 (GRCm39) |
|
probably benign |
Het |
Stard3nl |
C |
T |
13: 19,556,819 (GRCm39) |
R107Q |
probably damaging |
Het |
Syce1 |
C |
T |
7: 140,357,593 (GRCm39) |
R324H |
possibly damaging |
Het |
Tnk1 |
G |
T |
11: 69,743,119 (GRCm39) |
|
probably benign |
Het |
Trim46 |
A |
G |
3: 89,150,968 (GRCm39) |
F198L |
probably damaging |
Het |
Ubox5 |
A |
C |
2: 130,439,213 (GRCm39) |
|
probably benign |
Het |
Ust |
G |
A |
10: 8,183,202 (GRCm39) |
T167M |
probably damaging |
Het |
Zbtb2 |
T |
C |
10: 4,318,697 (GRCm39) |
Q443R |
probably benign |
Het |
Zfp407 |
A |
G |
18: 84,361,196 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTATACTCAGCGGCAGGAAACCC -3'
(R):5'- GCAGAGTGCATGGCTCAAAGTAAAC -3'
Sequencing Primer
(F):5'- CCTGAGGCTCTTAAAGCCAAG -3'
(R):5'- ggtggcccacgtctttaatc -3'
|
Posted On |
2014-03-14 |