Incidental Mutation 'R2349:Trip4'
ID 247395
Institutional Source Beutler Lab
Gene Symbol Trip4
Ensembl Gene ENSMUSG00000032386
Gene Name thyroid hormone receptor interactor 4
Synonyms 4930558E03Rik, ASC-1
MMRRC Submission 040331-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R2349 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65736212-65816076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65773844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 246 (D246G)
Ref Sequence ENSEMBL: ENSMUSP00000137304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117083] [ENSMUST00000119245] [ENSMUST00000122410] [ENSMUST00000179395]
AlphaFold Q9QXN3
Predicted Effect probably benign
Transcript: ENSMUST00000117083
AA Change: D246G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: D246G

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
AA Change: D246G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: D246G

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
AA Change: D246G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: D246G

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: ENSMUST00000179395
AA Change: D246G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: D246G

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 0.0596 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (34/34)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,105,415 (GRCm39) K77E probably damaging Het
Arfgef2 T A 2: 166,693,948 (GRCm39) I507N probably damaging Het
Atg16l2 T C 7: 100,945,746 (GRCm39) K231E probably damaging Het
C1s1 C A 6: 124,518,432 (GRCm39) probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cntrl A G 2: 35,066,263 (GRCm39) T1739A probably benign Het
Col15a1 G A 4: 47,306,742 (GRCm39) M289I probably damaging Het
Crebbp G A 16: 3,956,774 (GRCm39) R350C probably damaging Het
Dbx2 A G 15: 95,522,840 (GRCm39) V289A probably benign Het
Esam A C 9: 37,439,527 (GRCm39) Q4P probably benign Het
Galnt1 A G 18: 24,413,085 (GRCm39) M462V probably benign Het
Got1l1 T C 8: 27,687,959 (GRCm39) T357A probably benign Het
Gpr182 T A 10: 127,586,806 (GRCm39) K48N probably damaging Het
Hdlbp A G 1: 93,349,956 (GRCm39) probably benign Het
Ifi209 G A 1: 173,470,122 (GRCm39) V237M probably damaging Het
Igf2r A T 17: 12,941,198 (GRCm39) probably null Het
Jmjd1c T C 10: 67,091,279 (GRCm39) M2520T probably benign Het
Krt222 A G 11: 99,129,591 (GRCm39) probably benign Het
Nkx2-9 A G 12: 56,659,007 (GRCm39) L69P probably benign Het
Papss1 A G 3: 131,305,627 (GRCm39) D203G probably benign Het
Pex13 A G 11: 23,605,789 (GRCm39) M147T probably damaging Het
Pkd1l1 A T 11: 8,776,819 (GRCm39) probably null Het
Rac2 A G 15: 78,449,675 (GRCm39) V85A possibly damaging Het
Rock2 A G 12: 17,027,616 (GRCm39) N127S probably benign Het
Sfswap C T 5: 129,646,802 (GRCm39) R875C possibly damaging Het
Slco5a1 C T 1: 12,991,376 (GRCm39) V438M probably damaging Het
Thsd4 A G 9: 59,879,798 (GRCm39) Y620H probably benign Het
Usp10 T C 8: 120,683,448 (GRCm39) *88R probably null Het
Vars1 A G 17: 35,234,728 (GRCm39) I1186V probably benign Het
Vps13c A G 9: 67,864,808 (GRCm39) D3039G possibly damaging Het
Wwp1 A T 4: 19,638,644 (GRCm39) N566K possibly damaging Het
Xpo6 A T 7: 125,712,875 (GRCm39) V701E 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
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'- TTAATCTCTAAACCAATTCCCTGGC -3'
(R):5'- CCATTGATGTCAAACACCACTTGC -3'

Sequencing Primer
(F):5'- CTGGCTCCCCAAATTAAAACATTTG -3'
(R):5'- AAACACCACTTGCTGCTGGTTG -3'
Posted On 2014-11-11