Incidental Mutation 'R4089:Trip4'
| ID |
317513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trip4
|
| Ensembl Gene |
ENSMUSG00000032386 |
| Gene Name |
thyroid hormone receptor interactor 4 |
| Synonyms |
4930558E03Rik, ASC-1 |
| MMRRC Submission |
040982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.811)
|
| Stock # |
R4089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65736212-65816076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65765565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 378
(V378A)
|
| 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: V378A
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: V378A
| 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: V378A
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: V378A
| 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: V378A
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: V378A
| 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: V378A
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: V378A
| 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 |
0.0637 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Actr5 |
T |
C |
2: 158,467,022 (GRCm39) |
|
probably benign |
Het |
| Arhgef17 |
T |
A |
7: 100,533,006 (GRCm39) |
E1173V |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Cap1 |
A |
G |
4: 122,756,202 (GRCm39) |
V398A |
probably benign |
Het |
| Cbs |
A |
C |
17: 31,851,980 (GRCm39) |
C8G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,114,323 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,820,883 (GRCm39) |
C1494S |
probably damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,186,841 (GRCm39) |
D1687N |
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,501,051 (GRCm39) |
L1327F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,802 (GRCm39) |
F1365S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,371,394 (GRCm39) |
E1169G |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm14443 |
T |
C |
2: 175,013,685 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,477,233 (GRCm39) |
|
probably null |
Het |
| Il31ra |
C |
T |
13: 112,688,453 (GRCm39) |
W41* |
probably null |
Het |
| Ints4 |
T |
A |
7: 97,178,462 (GRCm39) |
Y687* |
probably null |
Het |
| Jpt2 |
A |
G |
17: 25,175,076 (GRCm39) |
S37P |
probably benign |
Het |
| Kcnk9 |
A |
G |
15: 72,418,112 (GRCm39) |
V6A |
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,810,520 (GRCm39) |
R797* |
probably null |
Het |
| Lrig1 |
A |
G |
6: 94,586,840 (GRCm39) |
I612T |
possibly damaging |
Het |
| Mapk4 |
C |
A |
18: 74,063,530 (GRCm39) |
C564F |
probably damaging |
Het |
| Marveld2 |
T |
A |
13: 100,736,988 (GRCm39) |
H215L |
probably benign |
Het |
| Mindy3 |
T |
C |
2: 12,369,327 (GRCm39) |
M84V |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,639,929 (GRCm39) |
D182G |
probably damaging |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Pkp3 |
G |
A |
7: 140,664,056 (GRCm39) |
R411H |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,891,134 (GRCm39) |
D366G |
probably damaging |
Het |
| Prkd3 |
A |
G |
17: 79,278,817 (GRCm39) |
M423T |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,299,174 (GRCm39) |
I623L |
probably benign |
Het |
| Rgs6 |
A |
T |
12: 83,110,261 (GRCm39) |
E175D |
probably damaging |
Het |
| Rnf135 |
G |
A |
11: 80,089,872 (GRCm39) |
G403S |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,624,719 (GRCm39) |
|
probably null |
Het |
| Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Sox10 |
C |
T |
15: 79,040,563 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,403,029 (GRCm39) |
D533G |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,201,700 (GRCm39) |
|
probably null |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
| Washc2 |
A |
T |
6: 116,233,253 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ATGCCAGGAGAAAGAAATCACATC -3'
(R):5'- TCACTACTATTTCGTGTGCTAAGT -3'
Sequencing Primer
(F):5'- GCAGAGAATGACCTTGAATTCCTG -3'
(R):5'- GCTAAGTTTGGACACTCTGAGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation