Incidental Mutation 'R6460:Trip4'
ID517575
Institutional Source Beutler Lab
Gene Symbol Trip4
Ensembl Gene ENSMUSG00000032386
Gene Namethyroid hormone receptor interactor 4
SynonymsASC-1, 4930558E03Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.841) question?
Stock #R6460 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location65828930-65908794 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65881020 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 48 (Y48N)
Ref Sequence ENSEMBL: ENSMUSP00000137304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117083] [ENSMUST00000119245] [ENSMUST00000122410] [ENSMUST00000134338] [ENSMUST00000179395]
Predicted Effect probably damaging
Transcript: ENSMUST00000117083
AA Change: Y48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: Y48N

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: Y48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: Y48N

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 probably damaging
Transcript: ENSMUST00000122410
AA Change: Y48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: Y48N

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 probably damaging
Transcript: ENSMUST00000134338
AA Change: Y48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000179395
AA Change: Y48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: Y48N

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A T 10: 80,009,028 H1528L probably benign Het
Ablim1 A G 19: 57,079,839 S263P possibly damaging Het
Ahnak2 T C 12: 112,786,990 E104G probably null Het
Apof T A 10: 128,269,217 M80K probably damaging Het
Arfgef1 C T 1: 10,213,060 R208H probably damaging Het
Arhgef33 A G 17: 80,349,589 probably null Het
Atxn2l CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 7: 126,494,248 probably benign Het
Cabcoco1 T C 10: 68,516,381 K34E probably damaging Het
Col4a4 C A 1: 82,466,532 G1338V unknown Het
Coq9 T A 8: 94,853,186 D256E probably damaging Het
Dnajc18 A T 18: 35,700,910 C41S probably benign Het
Dnajc6 A G 4: 101,615,598 I307M probably damaging Het
Emg1 A G 6: 124,711,907 V46A probably damaging Het
Eya3 A G 4: 132,680,863 S157G probably damaging Het
Eya4 T C 10: 23,152,012 N274S probably benign Het
Fan1 T A 7: 64,372,486 N340Y probably damaging Het
Fat3 A G 9: 15,967,000 V3395A probably damaging Het
Fchsd1 A T 18: 37,959,844 probably null Het
Gm4846 A G 1: 166,497,513 V3A probably benign Het
Hecw2 T A 1: 53,868,833 probably null Het
Herc3 T A 6: 58,890,123 I10N probably damaging Het
Hhatl C T 9: 121,789,522 R138H probably benign Het
Hspa9 A T 18: 34,952,712 H35Q probably benign Het
Irgq T A 7: 24,533,690 S319T probably benign Het
Kif1b T C 4: 149,192,596 M1337V probably benign Het
Ksr2 T A 5: 117,756,384 probably null Het
Lrriq1 T C 10: 103,200,698 I865V probably damaging Het
Map2k1 A G 9: 64,187,295 L355P probably damaging Het
Muc16 A G 9: 18,640,516 I4827T probably benign Het
Myh1 T C 11: 67,221,376 V1752A probably benign Het
Nfatc2ip A G 7: 126,387,737 V282A probably damaging Het
Nrg1 T A 8: 31,818,533 E485V probably damaging Het
Ofcc1 T C 13: 40,287,979 D2G probably damaging Het
Olfr958 CAGAG CAG 9: 39,550,792 probably null Het
Pclo T C 5: 14,679,132 probably benign Het
Pom121 T C 5: 135,391,683 K295E unknown Het
Rb1 A C 14: 73,278,454 I294R probably benign Het
Schip1 C A 3: 68,494,894 S101R probably benign Het
Sec24c T A 14: 20,690,800 Y629N probably damaging Het
Shkbp1 T A 7: 27,350,538 H305L probably benign Het
Spag9 T C 11: 94,068,975 I187T probably damaging Het
Srp72 C A 5: 76,987,991 T256K probably damaging Het
Stk32c T A 7: 139,105,274 N320I probably damaging Het
Stxbp4 A T 11: 90,606,985 S163T probably benign Het
Sycp1 T G 3: 102,925,253 Y199S probably damaging Het
Tpk1 T C 6: 43,469,027 D159G probably benign Het
Trav21-dv12 C T 14: 53,876,734 H104Y probably benign Het
Trmt10b A G 4: 45,314,322 T255A possibly damaging Het
Ttn G A 2: 76,916,888 Q4606* probably null Het
Vcan T A 13: 89,690,687 K2246M possibly damaging Het
Zfp438 C A 18: 5,213,603 G452C probably damaging Het
Zfp54 T A 17: 21,433,742 I166N probably benign Het
Zfp735 T C 11: 73,711,652 V474A probably benign Het
Zfp831 G T 2: 174,646,567 G1012W possibly damaging Het
Other mutations in Trip4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Trip4 APN 9 65833410 missense probably damaging 1.00
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
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
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
Predicted Primers PCR Primer
(F):5'- AAAGCCAAGCGTGTCTCAG -3'
(R):5'- GTAAAATAGTGCTAGCATTGAACCC -3'

Sequencing Primer
(F):5'- CAAGCGTGTCTCAGTGACTTTTCAG -3'
(R):5'- TAGTGCTAGCATTGAACCCAAAATC -3'
Posted On2018-05-21