Incidental Mutation 'R1103:Trip4'
| ID |
98276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trip4
|
| Ensembl Gene |
ENSMUSG00000032386 |
| Gene Name |
thyroid hormone receptor interactor 4 |
| Synonyms |
4930558E03Rik, ASC-1 |
| MMRRC Submission |
039176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R1103 (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 65788188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 86
(C86R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117083]
[ENSMUST00000119245]
[ENSMUST00000122410]
[ENSMUST00000134338]
[ENSMUST00000179395]
|
| AlphaFold |
Q9QXN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117083
AA Change: C86R
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: C86R
| 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: C86R
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: C86R
| 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: C86R
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: C86R
| 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 benign
Transcript: ENSMUST00000179395
AA Change: C86R
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: C86R
| 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 |
0.0634 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930524J08Rik |
G |
A |
5: 100,126,980 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,204,287 (GRCm39) |
|
probably benign |
Het |
| Adpgk |
A |
G |
9: 59,221,079 (GRCm39) |
H295R |
probably damaging |
Het |
| Aftph |
A |
T |
11: 20,676,547 (GRCm39) |
M199K |
probably benign |
Het |
| Ap2a1 |
C |
A |
7: 44,553,593 (GRCm39) |
|
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,776 (GRCm39) |
I216V |
probably benign |
Het |
| Bag4 |
A |
T |
8: 26,257,891 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,050,672 (GRCm39) |
M3003L |
probably benign |
Het |
| Bud23 |
T |
C |
5: 135,089,993 (GRCm39) |
S67G |
probably damaging |
Het |
| Cfap157 |
A |
G |
2: 32,671,410 (GRCm39) |
F132S |
probably damaging |
Het |
| Cngb3 |
G |
A |
4: 19,309,658 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
A |
G |
1: 116,508,399 (GRCm39) |
I1304V |
possibly damaging |
Het |
| Cp |
A |
G |
3: 20,036,149 (GRCm39) |
K764E |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,901,925 (GRCm39) |
V2438A |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,811,402 (GRCm39) |
W1230R |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,494,111 (GRCm39) |
V475I |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,071 (GRCm39) |
S429P |
probably benign |
Het |
| Dtwd1 |
T |
C |
2: 125,996,643 (GRCm39) |
S43P |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,016,274 (GRCm39) |
T705A |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,022,710 (GRCm39) |
T43N |
probably benign |
Het |
| Fcgbpl1 |
G |
T |
7: 27,853,945 (GRCm39) |
L1636F |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gpr150 |
G |
T |
13: 76,203,712 (GRCm39) |
P411Q |
probably damaging |
Het |
| Grap |
C |
A |
11: 61,562,544 (GRCm39) |
Q172K |
probably benign |
Het |
| Ido2 |
G |
A |
8: 25,066,239 (GRCm39) |
T9M |
probably benign |
Het |
| Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
| Klra17 |
G |
A |
6: 129,845,806 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
| Lhpp |
A |
T |
7: 132,212,484 (GRCm39) |
D17V |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
| Lrrc7 |
C |
T |
3: 157,854,343 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
A |
T |
19: 5,797,439 (GRCm39) |
|
probably null |
Het |
| Ltbp3 |
G |
C |
19: 5,797,440 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
T |
A |
4: 136,268,041 (GRCm39) |
L88Q |
possibly damaging |
Het |
| Magi2 |
T |
C |
5: 20,816,101 (GRCm39) |
I747T |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,563,974 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,455,950 (GRCm39) |
|
probably null |
Het |
| Map3k5 |
C |
A |
10: 19,899,422 (GRCm39) |
D226E |
probably benign |
Het |
| Mtf1 |
T |
A |
4: 124,732,261 (GRCm39) |
S440T |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,714,156 (GRCm39) |
L389Q |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,160,827 (GRCm39) |
D900G |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,534,795 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 58,912,309 (GRCm39) |
S7044R |
probably damaging |
Het |
| Or5bw2 |
T |
A |
7: 6,573,111 (GRCm39) |
N40K |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,090 (GRCm39) |
V9A |
possibly damaging |
Het |
| Or6k4 |
T |
C |
1: 173,964,457 (GRCm39) |
V49A |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
| Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
| Pramel22 |
A |
C |
4: 143,381,942 (GRCm39) |
C251W |
probably damaging |
Het |
| Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
| Sesn1 |
G |
T |
10: 41,778,589 (GRCm39) |
R346L |
possibly damaging |
Het |
| Setd4 |
G |
T |
16: 93,382,082 (GRCm39) |
H390Q |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,116,299 (GRCm39) |
E688G |
possibly damaging |
Het |
| Syne2 |
G |
A |
12: 76,156,609 (GRCm39) |
D6802N |
probably benign |
Het |
| Syt16 |
A |
G |
12: 74,313,672 (GRCm39) |
K533E |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,591,504 (GRCm39) |
Q26H |
probably benign |
Het |
| Trim33 |
G |
T |
3: 103,218,201 (GRCm39) |
W250L |
probably damaging |
Het |
| Upf2 |
T |
A |
2: 6,030,986 (GRCm39) |
C809S |
unknown |
Het |
| Vrk2 |
A |
G |
11: 26,499,325 (GRCm39) |
F76L |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,087,844 (GRCm39) |
T558A |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAAAGGCGGCTGGTACTCAGTG -3'
(R):5'- TGTTTGACTAAACTCCCATCAACCCTG -3'
Sequencing Primer
(F):5'- tatggttgggggggggg -3'
(R):5'- TCCCATCAACCCTGATGAATAATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation