Incidental Mutation 'R3729:Trip4'
| ID |
270882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trip4
|
| Ensembl Gene |
ENSMUSG00000032386 |
| Gene Name |
thyroid hormone receptor interactor 4 |
| Synonyms |
4930558E03Rik, ASC-1 |
| MMRRC Submission |
040719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R3729 (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 65788224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 74
(N74D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117083]
[ENSMUST00000119245]
[ENSMUST00000122410]
[ENSMUST00000134338]
[ENSMUST00000179395]
|
| AlphaFold |
Q9QXN3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117083
AA Change: N74D
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: N74D
| 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 |
possibly damaging
Transcript: ENSMUST00000119245
AA Change: N74D
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: N74D
| 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 |
possibly damaging
Transcript: ENSMUST00000122410
AA Change: N74D
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: N74D
| 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 |
possibly damaging
Transcript: ENSMUST00000179395
AA Change: N74D
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: N74D
| 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 |
0.0666 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (48/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,345,409 (GRCm39) |
D954G |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,352,925 (GRCm39) |
K345R |
probably null |
Het |
| Aldoart2 |
A |
G |
12: 55,613,104 (GRCm39) |
Y343C |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,895,047 (GRCm39) |
Y739F |
possibly damaging |
Het |
| Cachd1 |
C |
A |
4: 100,832,077 (GRCm39) |
Y746* |
probably null |
Het |
| Card14 |
T |
C |
11: 119,224,758 (GRCm39) |
V595A |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,427,220 (GRCm39) |
D171E |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,158,337 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
A |
G |
15: 99,219,745 (GRCm39) |
F668L |
probably damaging |
Het |
| Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,721,453 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,808 (GRCm39) |
Q223K |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Igkv4-90 |
A |
G |
6: 68,784,665 (GRCm39) |
F10L |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Kif4-ps |
A |
G |
12: 101,112,369 (GRCm39) |
E166G |
probably damaging |
Het |
| Lemd3 |
T |
C |
10: 120,763,920 (GRCm39) |
D780G |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,451,605 (GRCm39) |
E247G |
possibly damaging |
Het |
| Mfsd1 |
T |
C |
3: 67,490,298 (GRCm39) |
F50L |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,876 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
| Or5p62 |
A |
T |
7: 107,771,516 (GRCm39) |
I145N |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,547 (GRCm39) |
F25S |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,089,446 (GRCm39) |
L127P |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,168,316 (GRCm39) |
M373V |
possibly damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,729,276 (GRCm38) |
E47D |
probably damaging |
Het |
| Taf12 |
C |
A |
4: 132,010,265 (GRCm39) |
P78Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,973,810 (GRCm39) |
C186R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Tssk5 |
C |
T |
15: 76,257,096 (GRCm39) |
R262H |
probably benign |
Het |
| Vegfa |
T |
C |
17: 46,335,446 (GRCm39) |
I105V |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,364,095 (GRCm39) |
Y607C |
probably damaging |
Het |
| Wdr83 |
G |
T |
8: 85,806,968 (GRCm39) |
H66Q |
probably damaging |
Het |
| Zfp280b |
A |
G |
10: 75,874,936 (GRCm39) |
T272A |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
probably damaging |
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 |
|
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'- ATAGACCTAAGCTGAAAATAGGCAC -3'
(R):5'- TTTGACTAAACTCCCATCAACCCTG -3'
Sequencing Primer
(F):5'- GCTGAAAATAGGCACACATAAGTTC -3'
(R):5'- TGTCAATTGAGAATGCTGA -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation