Incidental Mutation 'R7139:Trip4'
ID 553275
Institutional Source Beutler Lab
Gene Symbol Trip4
Ensembl Gene ENSMUSG00000032386
Gene Name thyroid hormone receptor interactor 4
Synonyms 4930558E03Rik, ASC-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R7139 (G1)
Quality Score 122.008
Status Not validated
Chromosome 9
Chromosomal Location 65736212-65816076 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to G at 65792503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386

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 benign
Transcript: ENSMUST00000119245
SMART Domains Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386

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 benign
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 probably benign
Transcript: ENSMUST00000134338
Predicted Effect probably benign
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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,026,295 (GRCm39) R272G possibly damaging Het
4930512M02Rik T A 11: 11,540,078 (GRCm39) N179Y unknown Het
4930562C15Rik A T 16: 4,668,048 (GRCm39) M480L probably benign Het
Abcd4 A G 12: 84,653,072 (GRCm39) C377R probably benign Het
Adam23 C A 1: 63,584,736 (GRCm39) D381E probably damaging Het
Angpt1 T A 15: 42,539,747 (GRCm39) Q37H probably damaging Het
Apeh A T 9: 107,969,345 (GRCm39) F260I probably damaging Het
Cadps2 T C 6: 23,410,888 (GRCm39) Y681C probably damaging Het
Ccdc162 T C 10: 41,542,717 (GRCm39) M386V possibly damaging Het
Celsr2 T C 3: 108,322,675 (GRCm39) S46G unknown Het
Cfc1 T C 1: 34,575,560 (GRCm39) L78P probably benign Het
Chd7 T C 4: 8,865,865 (GRCm39) V2724A probably benign Het
Clca3a1 A T 3: 144,461,063 (GRCm39) V196E possibly damaging Het
Cma1 T C 14: 56,181,273 (GRCm39) H44R probably damaging Het
Cnot2 T C 10: 116,330,924 (GRCm39) N394S probably benign Het
Cplx3 A T 9: 57,522,879 (GRCm39) H160Q probably benign Het
Cstf3 A T 2: 104,483,409 (GRCm39) I372F possibly damaging Het
Cyb5rl A C 4: 106,928,208 (GRCm39) I115L probably benign Het
D5Ertd579e A G 5: 36,771,320 (GRCm39) L1025P probably damaging Het
Dmtn T C 14: 70,854,867 (GRCm39) N36S probably benign Het
Dnah6 A G 6: 73,112,663 (GRCm39) V1647A probably damaging Het
Dock6 T C 9: 21,712,572 (GRCm39) Y2063C probably damaging Het
Dst T A 1: 34,338,888 (GRCm39) D5149E probably damaging Het
Fancl A G 11: 26,353,358 (GRCm39) M85V probably benign Het
Fgd2 T A 17: 29,592,229 (GRCm39) F387Y probably damaging Het
Fshr A T 17: 89,293,589 (GRCm39) I363N possibly damaging Het
Glce G T 9: 61,977,716 (GRCm39) S56* probably null Het
Gm26727 A T 2: 67,263,381 (GRCm39) S49T unknown Het
Gm36210 T A 7: 4,902,277 (GRCm39) D131V probably damaging Het
Gm5089 T C 14: 122,673,403 (GRCm39) D106G unknown Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
H2-Eb2 C T 17: 34,553,395 (GRCm39) R194W probably benign Het
Hivep1 A T 13: 42,313,430 (GRCm39) E1890V probably benign Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Ighv2-5 T A 12: 113,649,219 (GRCm39) Y78F probably benign Het
Il9 C T 13: 56,628,426 (GRCm39) V88I probably benign Het
Kidins220 A G 12: 25,044,820 (GRCm39) T163A probably damaging Het
Lama4 G T 10: 38,951,491 (GRCm39) D1079Y probably damaging Het
Lrrc34 T C 3: 30,679,036 (GRCm39) I354V probably benign Het
Macroh2a2 T A 10: 61,593,674 (GRCm39) M1L unknown Het
Mpeg1 A T 19: 12,439,078 (GRCm39) T179S probably benign Het
Mrgpra2a A T 7: 47,076,337 (GRCm39) L307H probably damaging Het
Mst1 G A 9: 107,960,027 (GRCm39) R328H probably damaging Het
Muc21 TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT TCCTGAGGCAGTGCTGGAT 17: 35,933,525 (GRCm39) probably benign Het
Nav3 C A 10: 109,689,338 (GRCm39) S313I probably benign Het
Nmt2 T G 2: 3,285,352 (GRCm39) S7A probably benign Het
Nsmce1 T C 7: 125,068,254 (GRCm39) S197G probably benign Het
Ociad2 A G 5: 73,493,218 (GRCm39) V4A probably benign Het
Or56a41 G T 7: 104,742,005 (GRCm39) T7K probably benign Het
Osmr T C 15: 6,850,569 (GRCm39) D679G possibly damaging Het
Pappa T A 4: 65,107,687 (GRCm39) F699L probably benign Het
Parp8 T A 13: 117,161,802 (GRCm39) M40L probably benign Het
Pcyox1 A T 6: 86,371,519 (GRCm39) N122K possibly damaging Het
Pkd1l1 T C 11: 8,840,737 (GRCm39) S1224G Het
Pkd1l3 T A 8: 110,362,972 (GRCm39) S1088T probably damaging Het
Prrt1 T C 17: 34,850,051 (GRCm39) V155A probably benign Het
Rbm6 A C 9: 107,730,410 (GRCm39) D79E probably damaging Het
Sec31b A T 19: 44,507,375 (GRCm39) S819T probably benign Het
Slc22a27 A T 19: 7,903,912 (GRCm39) I75N probably damaging Het
Slc25a54 G A 3: 109,005,905 (GRCm39) G138R probably damaging Het
Slc6a12 T C 6: 121,342,278 (GRCm39) S612P probably benign Het
Slc7a2 A T 8: 41,368,050 (GRCm39) I605F probably benign Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Strbp A T 2: 37,514,514 (GRCm39) H308Q probably benign Het
Stxbp4 G A 11: 90,497,835 (GRCm39) Q155* probably null Het
Sybu A T 15: 44,541,110 (GRCm39) N317K possibly damaging Het
Taok1 G A 11: 77,462,459 (GRCm39) S210F probably damaging Het
Tapbp A G 17: 34,139,022 (GRCm39) D72G possibly damaging Het
Thbd G T 2: 148,248,461 (GRCm39) T469K probably benign Het
Tia1 T C 6: 86,404,670 (GRCm39) Y302H possibly damaging Het
Tlr4 T C 4: 66,758,520 (GRCm39) F438L probably benign Het
Tmem235 C T 11: 117,751,723 (GRCm39) S49L probably damaging Het
Trrap C A 5: 144,739,988 (GRCm39) L1137I possibly damaging Het
Vmo1 T C 11: 70,404,674 (GRCm39) E109G probably benign Het
Wdfy4 T C 14: 32,873,535 (GRCm39) Y258C Het
Wdr91 T G 6: 34,885,198 (GRCm39) N121T possibly damaging Het
Zfp39 T C 11: 58,781,385 (GRCm39) H459R probably damaging Het
Zfp936 T A 7: 42,839,715 (GRCm39) I394K possibly damaging Het
Zpr1 G A 9: 46,192,357 (GRCm39) D423N probably damaging 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
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
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'- TGTGCACCAGTGTACTAGC -3'
(R):5'- TTGATATACTCCTGACAACCGC -3'

Sequencing Primer
(F):5'- ACCAGTGTACTAGCGGCTC -3'
(R):5'- CTGACAACCGCTGTTTTAAACG -3'
Posted On 2019-05-15