Incidental Mutation 'R1436:Trip4'
ID 160647
Institutional Source Beutler Lab
Gene Symbol Trip4
Ensembl Gene ENSMUSG00000032386
Gene Name thyroid hormone receptor interactor 4
Synonyms 4930558E03Rik, ASC-1
MMRRC Submission 039491-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R1436 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65736212-65816076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65788233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 71 (W71R)
Ref Sequence ENSEMBL: ENSMUSP00000137304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117083] [ENSMUST00000119245] [ENSMUST00000122410] [ENSMUST00000134338] [ENSMUST00000179395]
AlphaFold Q9QXN3
Predicted Effect probably damaging
Transcript: ENSMUST00000117083
AA Change: W71R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: W71R

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: W71R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: W71R

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: W71R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: W71R

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 benign
Transcript: ENSMUST00000134338
Predicted Effect probably damaging
Transcript: ENSMUST00000179395
AA Change: W71R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: W71R

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
Meta Mutation Damage Score 0.1840 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 86.8%
Validation Efficiency 94% (65/69)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,621,172 (GRCm39) F292S probably benign Het
Aadacl2fm3 A T 3: 59,772,760 (GRCm39) D88V probably damaging Het
Abca13 T C 11: 9,242,646 (GRCm39) V1503A probably damaging Het
AI661453 C T 17: 47,777,627 (GRCm39) probably benign Het
Ano2 T C 6: 125,844,134 (GRCm39) probably null Het
Areg G T 5: 91,287,664 (GRCm39) probably benign Het
Atg16l2 A G 7: 100,940,757 (GRCm39) V453A probably damaging Het
BC034090 A G 1: 155,101,662 (GRCm39) S563P probably benign Het
Bhmt-ps1 A G 4: 26,369,591 (GRCm39) noncoding transcript Het
Birc6 C A 17: 74,959,700 (GRCm39) P3855Q probably damaging Het
Cd151 A T 7: 141,049,197 (GRCm39) K8M probably damaging Het
Cd163 T C 6: 124,304,890 (GRCm39) V1089A possibly damaging Het
Chd3 A T 11: 69,248,400 (GRCm39) probably null Het
Cnot6l T A 5: 96,281,971 (GRCm39) E9V probably damaging Het
Col22a1 A G 15: 71,794,806 (GRCm39) probably benign Het
Cyp2c68 A G 19: 39,729,484 (GRCm39) M1T probably null Het
Dbp T C 7: 45,357,879 (GRCm39) V149A probably damaging Het
Dnah10 T C 5: 124,839,285 (GRCm39) V1241A probably benign Het
Galnt10 T C 11: 57,662,295 (GRCm39) S314P probably damaging Het
Glce C T 9: 61,977,292 (GRCm39) probably null Het
Gm5093 C G 17: 46,750,680 (GRCm39) D116H probably damaging Het
Golim4 A G 3: 75,785,951 (GRCm39) probably null Het
Helz2 A T 2: 180,877,317 (GRCm39) I1107N probably damaging Het
Hoxc9 T C 15: 102,890,304 (GRCm39) S74P probably benign Het
Ikbkb T A 8: 23,163,419 (GRCm39) N297I probably benign Het
Il20ra T A 10: 19,625,000 (GRCm39) I93N probably damaging Het
Itch C A 2: 155,034,065 (GRCm39) N412K probably damaging Het
Kcna5 T A 6: 126,511,724 (GRCm39) T135S probably damaging Het
Lncpint G A 6: 31,157,974 (GRCm39) noncoding transcript Het
Lrrc39 A T 3: 116,373,293 (GRCm39) probably null Het
Mad2l1 T A 6: 66,516,797 (GRCm39) V163E possibly damaging Het
Moxd1 C T 10: 24,120,256 (GRCm39) T128M probably damaging Het
Mpeg1 C T 19: 12,439,823 (GRCm39) S427F probably damaging Het
Nckap5 T C 1: 125,953,798 (GRCm39) Y854C possibly damaging Het
Ncln C T 10: 81,325,727 (GRCm39) E373K probably damaging Het
Neurod4 T C 10: 130,106,540 (GRCm39) T245A possibly damaging Het
Nsun5 T C 5: 135,399,067 (GRCm39) L39P probably damaging Het
Or2ad1 G T 13: 21,327,162 (GRCm39) Q22K probably benign Het
Or4c105 A T 2: 88,648,336 (GRCm39) T274S possibly damaging Het
Or4f7 A G 2: 111,644,906 (GRCm39) L55S probably damaging Het
Pde8b T C 13: 95,162,678 (GRCm39) T815A probably benign Het
Pofut2 C T 10: 77,104,398 (GRCm39) R392W probably damaging Het
Ppip5k2 G A 1: 97,639,507 (GRCm39) T1186I probably benign Het
Rhot2 A C 17: 26,060,374 (GRCm39) S277R probably benign Het
Satb1 T G 17: 52,111,391 (GRCm39) probably null Het
Sec31b T C 19: 44,524,634 (GRCm39) I88V probably damaging Het
Selenon T A 4: 134,267,997 (GRCm39) E483V probably damaging Het
Serpinc1 A G 1: 160,820,981 (GRCm39) T22A possibly damaging Het
Sf3a2 G A 10: 80,640,040 (GRCm39) probably benign Het
Sf3b1 A G 1: 55,040,580 (GRCm39) Y561H possibly damaging Het
Smarcc1 T A 9: 109,947,708 (GRCm39) probably benign Het
Stard3nl C T 13: 19,556,819 (GRCm39) R107Q probably damaging Het
Syce1 C T 7: 140,357,593 (GRCm39) R324H possibly damaging Het
Tnk1 G T 11: 69,743,119 (GRCm39) probably benign Het
Trim46 A G 3: 89,150,968 (GRCm39) F198L probably damaging Het
Ubox5 A C 2: 130,439,213 (GRCm39) probably benign Het
Ust G A 10: 8,183,202 (GRCm39) T167M probably damaging Het
Zbtb2 T C 10: 4,318,697 (GRCm39) Q443R probably benign Het
Zfp407 A G 18: 84,361,196 (GRCm39) 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
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'- GTTATACTCAGCGGCAGGAAACCC -3'
(R):5'- GCAGAGTGCATGGCTCAAAGTAAAC -3'

Sequencing Primer
(F):5'- CCTGAGGCTCTTAAAGCCAAG -3'
(R):5'- ggtggcccacgtctttaatc -3'
Posted On 2014-03-14