Incidental Mutation 'IGL00490:Trip4'
ID4859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trip4
Ensembl Gene ENSMUSG00000032386
Gene Namethyroid hormone receptor interactor 4
SynonymsASC-1, 4930558E03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.872) question?
Stock #IGL00490
Quality Score
Status
Chromosome9
Chromosomal Location65828930-65908794 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 65833410 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 573 (G573R)
Ref Sequence ENSEMBL: ENSMUSP00000112385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117083] [ENSMUST00000119245] [ENSMUST00000122410] [ENSMUST00000179395]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116032
Predicted Effect probably damaging
Transcript: ENSMUST00000117083
AA Change: G573R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: G573R

DomainStartEndE-ValueType
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: G573R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: G573R

DomainStartEndE-ValueType
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 silent
Transcript: ENSMUST00000122410
SMART Domains Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386

DomainStartEndE-ValueType
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 silent
Transcript: ENSMUST00000179395
SMART Domains Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386

DomainStartEndE-ValueType
Pfam:zf-C2HC5 167 219 8e-22 PFAM
low complexity region 302 322 N/A INTRINSIC
ASCH 437 535 3.19e-4 SMART
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 A G 4: 130,011,872 E837G possibly damaging Het
Atp13a3 A G 16: 30,352,354 M291T probably benign Het
Coq8b C A 7: 27,257,477 H518Q probably benign Het
Crebrf A G 17: 26,743,093 D388G probably damaging Het
Cyp2d10 A T 15: 82,403,314 S244T possibly damaging Het
Ddr2 A T 1: 170,005,194 L99H probably damaging Het
Dennd1a G T 2: 37,801,152 D251E probably damaging Het
Fam210a G T 18: 68,268,912 T210N probably damaging Het
Gigyf2 C A 1: 87,436,850 Q951K probably damaging Het
Gramd1b T A 9: 40,310,041 I280F probably damaging Het
Gsdmc3 T A 15: 63,859,677 K335N probably benign Het
Loxhd1 A T 18: 77,431,074 T993S possibly damaging Het
Mfsd6 A G 1: 52,708,254 L484P probably damaging Het
Myt1l T A 12: 29,827,424 V358E unknown Het
Mzt1 A G 14: 99,040,670 probably benign Het
Nrxn2 C A 19: 6,473,593 H514Q possibly damaging Het
Nup214 G A 2: 32,033,979 E2K probably damaging Het
Pcdhb4 G T 18: 37,309,916 G760W possibly damaging Het
Ptger2 T C 14: 45,001,741 probably benign Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Smcr8 T A 11: 60,778,632 probably null Het
Spef2 A T 15: 9,740,535 D46E probably damaging Het
Tbc1d32 G A 10: 56,155,765 P689L probably damaging Het
Tep1 C A 14: 50,833,473 W2123L probably damaging Het
Thg1l T C 11: 45,954,221 E8G probably benign Het
Tmem236 A G 2: 14,219,378 Y326C probably damaging Het
Trrap C T 5: 144,825,225 T2320I probably benign Het
Tsnaxip1 A G 8: 105,842,184 N435S probably damaging Het
Ube3a A G 7: 59,272,110 N77D probably damaging Het
Uvrag A T 7: 98,979,741 I373N probably damaging Het
Other mutations in Trip4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Trip4 APN 9 65874934 missense probably damaging 0.98
IGL01729:Trip4 APN 9 65874892 missense probably benign 0.44
IGL02171:Trip4 APN 9 65881050 missense probably damaging 1.00
IGL03131:Trip4 APN 9 65857445 missense probably benign
R0270:Trip4 UTSW 9 65858358 missense probably damaging 1.00
R0707:Trip4 UTSW 9 65839004 missense possibly damaging 0.95
R0735:Trip4 UTSW 9 65884918 splice site probably benign
R1103:Trip4 UTSW 9 65880906 missense probably benign 0.35
R1436:Trip4 UTSW 9 65880951 missense probably damaging 1.00
R1758:Trip4 UTSW 9 65874977 nonsense probably null
R1831:Trip4 UTSW 9 65858340 missense probably damaging 1.00
R1886:Trip4 UTSW 9 65874881 missense probably null 1.00
R1887:Trip4 UTSW 9 65874881 missense probably null 1.00
R1958:Trip4 UTSW 9 65839025 missense possibly damaging 0.88
R2204:Trip4 UTSW 9 65864265 missense probably damaging 1.00
R2349:Trip4 UTSW 9 65866562 missense probably benign 0.02
R3729:Trip4 UTSW 9 65880942 missense possibly damaging 0.87
R3907:Trip4 UTSW 9 65833426 missense probably benign 0.07
R4089:Trip4 UTSW 9 65858283 missense probably benign 0.16
R4879:Trip4 UTSW 9 65875022 missense probably benign 0.00
R4913:Trip4 UTSW 9 65858357 missense probably damaging 1.00
R6127:Trip4 UTSW 9 65866470 critical splice donor site probably null
R6189:Trip4 UTSW 9 65879152 nonsense probably null
R6460:Trip4 UTSW 9 65881020 missense probably damaging 1.00
R7062:Trip4 UTSW 9 65885010 missense probably benign 0.24
R7139:Trip4 UTSW 9 65885221 start gained probably benign
R7180:Trip4 UTSW 9 65857345 missense probably damaging 1.00
R7448:Trip4 UTSW 9 65866475 missense probably damaging 1.00
R7556:Trip4 UTSW 9 65874873 nonsense probably null
R7970:Trip4 UTSW 9 65839016 missense probably damaging 1.00
Z1088:Trip4 UTSW 9 65864415 nonsense probably null
Z1177:Trip4 UTSW 9 65839021 missense probably damaging 1.00
Z1177:Trip4 UTSW 9 65864375 missense probably damaging 1.00
Posted On2012-04-20