Incidental Mutation 'R4913:Trip4'
ID 379711
Institutional Source Beutler Lab
Gene Symbol Trip4
Ensembl Gene ENSMUSG00000032386
Gene Name thyroid hormone receptor interactor 4
Synonyms 4930558E03Rik, ASC-1
MMRRC Submission 042515-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R4913 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 65736212-65816076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65765639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 353 (I353M)
Ref Sequence ENSEMBL: ENSMUSP00000137304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117083] [ENSMUST00000119245] [ENSMUST00000122410] [ENSMUST00000179395]
AlphaFold Q9QXN3
Predicted Effect probably damaging
Transcript: ENSMUST00000117083
AA Change: I353M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: I353M

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: I353M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: I353M

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: I353M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: I353M

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: ENSMUST00000179395
AA Change: I353M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: I353M

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T A 4: 144,255,381 (GRCm39) M267K possibly damaging Het
Acsm5 T C 7: 119,133,566 (GRCm39) S244P probably damaging Het
Actr6 A G 10: 89,550,808 (GRCm39) F329L probably benign Het
Actrt3 A G 3: 30,652,588 (GRCm39) S169P probably benign Het
Agtpbp1 C A 13: 59,647,886 (GRCm39) G645C probably damaging Het
AI661453 C T 17: 47,779,480 (GRCm39) R1069* probably null Het
Akr1c6 T C 13: 4,504,524 (GRCm39) I303T probably benign Het
Arnt A G 3: 95,397,965 (GRCm39) R588G probably damaging Het
Atf1 A G 15: 100,149,979 (GRCm39) probably null Het
Casp12 T C 9: 5,358,726 (GRCm39) V318A probably damaging Het
Cblb C T 16: 51,986,392 (GRCm39) P545L possibly damaging Het
Cc2d2a A T 5: 43,896,665 (GRCm39) I1521F probably benign Het
Ccn2 T C 10: 24,473,225 (GRCm39) C255R probably damaging Het
Ccnb1ip1 T A 14: 51,029,601 (GRCm39) K154* probably null Het
Cd300a A T 11: 114,784,198 (GRCm39) K69* probably null Het
Cdin1 A G 2: 115,500,568 (GRCm39) probably null Het
Clec10a A G 11: 70,060,851 (GRCm39) Y78C probably damaging Het
Cnot1 T C 8: 96,489,695 (GRCm39) I503V possibly damaging Het
Cpa2 A G 6: 30,554,292 (GRCm39) H304R probably damaging Het
Crb2 A T 2: 37,680,257 (GRCm39) H395L probably benign Het
Dnah8 T A 17: 31,038,113 (GRCm39) N4257K probably damaging Het
Dnase2a G A 8: 85,635,477 (GRCm39) D25N probably damaging Het
Drd1 T C 13: 54,207,186 (GRCm39) T343A probably benign Het
Emid1 G A 11: 5,082,012 (GRCm39) T161I probably benign Het
Epn2 A G 11: 61,425,402 (GRCm39) probably null Het
Esp36 A T 17: 38,728,055 (GRCm39) N75K possibly damaging Het
Faf1 A G 4: 109,792,746 (GRCm39) S573G possibly damaging Het
Fam149a T G 8: 45,806,920 (GRCm39) S231R probably damaging Het
Fam78a T C 2: 31,959,774 (GRCm39) E112G probably damaging Het
Fgf18 T C 11: 33,084,316 (GRCm39) D46G probably benign Het
Fggy G A 4: 95,585,313 (GRCm39) probably null Het
Foxb1 T C 9: 69,666,859 (GRCm39) M224V probably benign Het
Gpr75 T C 11: 30,841,808 (GRCm39) C238R possibly damaging Het
Gsdmc3 A G 15: 63,730,122 (GRCm39) *481R probably null Het
H2az2 C A 11: 6,383,750 (GRCm39) A57S probably damaging Het
Hsd17b11 T C 5: 104,140,748 (GRCm39) I250V probably benign Het
Hus1 C A 11: 8,946,856 (GRCm39) L280F probably benign Het
Ide A T 19: 37,306,469 (GRCm39) H101Q unknown Het
Ido1 T C 8: 25,074,533 (GRCm39) D279G probably benign Het
Inpp5b T C 4: 124,674,214 (GRCm39) V307A probably benign Het
Ipo5 G A 14: 121,172,498 (GRCm39) V519I probably damaging Het
Krba1 T C 6: 48,383,891 (GRCm39) V239A probably benign Het
Lmod3 A G 6: 97,224,125 (GRCm39) probably null Het
Macf1 T C 4: 123,393,682 (GRCm39) D836G probably damaging Het
Malt1 G T 18: 65,609,351 (GRCm39) C774F probably damaging Het
Map2k4 C A 11: 65,600,758 (GRCm39) D58Y probably damaging Het
Mc2r T C 18: 68,540,411 (GRCm39) N294S probably benign Het
Mybpc1 A G 10: 88,389,116 (GRCm39) probably null Het
Mybpc3 A G 2: 90,956,609 (GRCm39) E637G possibly damaging Het
Narf A G 11: 121,135,469 (GRCm39) Q107R probably damaging Het
Nlrp3 G A 11: 59,440,064 (GRCm39) G547D probably benign Het
Nucb2 G T 7: 116,123,540 (GRCm39) G51* probably null Het
Or10al5 T A 17: 38,063,315 (GRCm39) V190D possibly damaging Het
Otog C A 7: 45,913,526 (GRCm39) D786E probably benign Het
Otogl T C 10: 107,712,716 (GRCm39) T543A probably damaging Het
Pgap6 T C 17: 26,339,513 (GRCm39) F584L probably damaging Het
Phf20l1 A G 15: 66,476,704 (GRCm39) N266S probably benign Het
Pink1 G T 4: 138,042,866 (GRCm39) S446* probably null Het
Pkp4 T G 2: 59,135,794 (GRCm39) H186Q probably damaging Het
Prl3b1 T C 13: 27,433,460 (GRCm39) V205A probably damaging Het
Prss32 T C 17: 24,078,157 (GRCm39) V281A probably damaging Het
Psd3 C T 8: 68,573,821 (GRCm39) C120Y probably damaging Het
Ptcra A G 17: 47,069,574 (GRCm39) L99P probably damaging Het
Rab3gap2 C T 1: 184,995,026 (GRCm39) T855I probably benign Het
Rabgap1l T C 1: 160,066,111 (GRCm39) E199G probably damaging Het
Rbm44 T A 1: 91,083,216 (GRCm39) C580S probably damaging Het
Resf1 C G 6: 149,230,887 (GRCm39) S1311C probably damaging Het
Rhoq T C 17: 87,302,493 (GRCm39) V143A probably benign Het
Sacs T A 14: 61,451,246 (GRCm39) Y4431N probably benign Het
Sec24b A T 3: 129,796,028 (GRCm39) S367T probably benign Het
Sema4c G A 1: 36,589,266 (GRCm39) S620F probably benign Het
Slc12a1 G A 2: 125,070,670 (GRCm39) G1054E probably damaging Het
Slc16a3 A G 11: 120,848,794 (GRCm39) R417G probably benign Het
Slc22a29 A T 19: 8,195,722 (GRCm39) S106T probably benign Het
Slc41a2 T C 10: 83,149,284 (GRCm39) T220A probably damaging Het
Tap1 T C 17: 34,412,468 (GRCm39) F474L possibly damaging Het
Tas2r106 G T 6: 131,655,422 (GRCm39) A143D probably benign Het
Tbx6 A T 7: 126,383,707 (GRCm39) probably null Het
Tfap2a T A 13: 40,870,706 (GRCm39) N402I probably damaging Het
Tle3 T A 9: 61,281,275 (GRCm39) V22E probably damaging Het
Ubr2 C A 17: 47,270,385 (GRCm39) probably null Het
Ugdh A G 5: 65,580,791 (GRCm39) probably null Het
Uhrf1 T C 17: 56,622,478 (GRCm39) V431A probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Zfp820 T C 17: 22,038,200 (GRCm39) K376R probably benign Het
Other mutations in Trip4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACTGCCATGTTGAGAAGAAATTGG -3'
(R):5'- GAATAGGTAGTGTGTCCTACCTG -3'

Sequencing Primer
(F):5'- TGGTATCTAAGGCCTATGAAACAGAC -3'
(R):5'- AGGTAGTGTGTCCTACCTGTTTTCC -3'
Posted On 2016-04-15