Incidental Mutation 'R7556:Trip4'
ID584784
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: 0.833) question?
Stock #R7556 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location65828930-65908794 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 65874873 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 192 (C192*)
Ref Sequence ENSEMBL: ENSMUSP00000113949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117083] [ENSMUST00000119245] [ENSMUST00000122410] [ENSMUST00000179395]
Predicted Effect probably null
Transcript: ENSMUST00000117083
AA Change: C192*
SMART Domains Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: C192*

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 null
Transcript: ENSMUST00000119245
AA Change: C192*
SMART Domains Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: C192*

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 null
Transcript: ENSMUST00000122410
AA Change: C192*
SMART Domains Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: C192*

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 null
Transcript: ENSMUST00000179395
AA Change: C192*
SMART Domains Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: C192*

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C T 9: 46,310,313 W11* probably null Het
A2ml1 A G 6: 128,569,964 S401P probably damaging Het
Adamtsl1 T A 4: 86,277,121 Y592N probably benign Het
Adh6b C T 3: 138,352,785 T76I probably damaging Het
Aebp2 C A 6: 140,677,411 P503Q probably benign Het
Ankrd2 A G 19: 42,040,400 D134G Het
Atf7ip T C 6: 136,561,241 S491P probably damaging Het
Atp1a3 T C 7: 24,981,566 D832G probably benign Het
Atrnl1 G A 19: 57,654,846 V389I probably benign Het
Bahcc1 T C 11: 120,287,763 S2383P probably damaging Het
BC051142 A T 17: 34,437,717 I103F unknown Het
Brd9 A G 13: 73,944,767 D292G possibly damaging Het
Cacna1e G T 1: 154,472,673 Q781K probably benign Het
Ccdc9 T C 7: 16,284,566 probably benign Het
Cdc42ep4 C G 11: 113,728,540 E342Q probably damaging Het
Celf3 C T 3: 94,480,283 T54M probably damaging Het
Cenpn T C 8: 116,937,269 Y267H probably damaging Het
Chrnb4 T C 9: 55,035,055 T312A probably benign Het
Clcn3 T A 8: 60,929,487 T383S probably damaging Het
Cln3 T C 7: 126,575,070 Q327R probably damaging Het
Cnep1r1 T C 8: 88,125,133 L50P probably damaging Het
Cnot6 T C 11: 49,675,317 N512S probably benign Het
Col7a1 T A 9: 108,982,465 probably null Het
Cryba4 C T 5: 112,251,103 R25Q probably damaging Het
Dnah5 A G 15: 28,290,243 I1260V probably null Het
Dock2 G T 11: 34,720,951 T195K probably benign Het
Dpp9 A T 17: 56,190,012 I740N possibly damaging Het
Fbxl21 A T 13: 56,526,928 N31Y probably benign Het
Frat1 G A 19: 41,830,520 R118Q possibly damaging Het
Gna11 A G 10: 81,531,374 F228S Het
Golgb1 A T 16: 36,915,793 M1842L probably benign Het
Got1 A T 19: 43,503,030 M327K probably damaging Het
Hexa T A 9: 59,563,299 L468Q probably damaging Het
Hist1h4i A G 13: 22,041,244 I27T probably damaging Het
Ift57 G A 16: 49,706,128 V178I probably benign Het
Kbtbd13 T C 9: 65,391,475 T60A probably benign Het
Klk5 A G 7: 43,847,225 T194A probably damaging Het
Krtap16-3 C A 16: 88,962,778 G16C unknown Het
Lamb3 T C 1: 193,332,449 S639P probably benign Het
Mapt C A 11: 104,298,702 P182Q probably benign Het
Mcf2l A G 8: 12,973,071 T86A probably damaging Het
Mecom G T 3: 29,987,071 H125N probably benign Het
Med18 T C 4: 132,459,936 H84R probably benign Het
Muc2 A G 7: 141,753,702 Y798C Het
Mycbp T C 4: 123,905,267 Y17H probably damaging Het
Nacad C T 11: 6,601,272 V640M possibly damaging Het
Ncoa1 C T 12: 4,270,794 V1092I probably damaging Het
Nomo1 A G 7: 46,066,218 E696G probably damaging Het
Notch4 G A 17: 34,575,470 C741Y probably damaging Het
Olfr212 C T 6: 116,516,736 Q320* probably null Het
Olfr978 A G 9: 39,994,682 N291D probably damaging Het
Osbpl10 C A 9: 115,207,624 H229Q probably damaging Het
Pif1 A T 9: 65,589,711 probably null Het
Plk2 T G 13: 110,396,588 probably null Het
Ppp1r42 T C 1: 9,995,183 H172R probably benign Het
Ring1 A G 17: 34,021,714 I363T possibly damaging Het
Rnf168 T G 16: 32,299,045 Y475D probably damaging Het
Sbf2 T A 7: 110,314,053 K1671N probably benign Het
Sema6d A G 2: 124,654,189 N51S probably damaging Het
Setx C A 2: 29,146,493 Q997K possibly damaging Het
Skint5 T G 4: 113,567,965 Q1088P unknown Het
Slc22a27 T C 19: 7,865,754 D528G probably damaging Het
Slc6a7 T A 18: 61,007,442 K173* probably null Het
Smc2 T C 4: 52,457,379 F380L probably benign Het
Spata31d1a T C 13: 59,701,984 M777V probably benign Het
Stkld1 A T 2: 26,947,295 N319I possibly damaging Het
Tanc2 T C 11: 105,909,031 V93A Het
Tbx20 T C 9: 24,750,277 probably null Het
Trbv20 G A 6: 41,188,781 V47I probably benign Het
Tulp2 A G 7: 45,518,581 probably null Het
Ush2a C A 1: 188,957,493 P5084Q probably benign Het
Virma T C 4: 11,518,927 Y675H probably damaging Het
Vmn2r102 T A 17: 19,677,831 N369K probably benign Het
Vmn2r59 A T 7: 42,045,809 M393K probably damaging Het
Vmn2r69 GAAAA GAAAAA 7: 85,411,560 probably null Het
Xpot A G 10: 121,613,506 S30P probably benign Het
Zfp947 T C 17: 22,145,616 Y359C probably benign 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
R6460:Trip4 UTSW 9 65881020 missense probably damaging 1.00
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
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'- TGGCCTTGGTTATTAACTCAAAGC -3'
(R):5'- TGTACTATCAGGCACAAGAAAGC -3'

Sequencing Primer
(F):5'- TCCGATGGTCCAGAGTTCAAATC -3'
(R):5'- GCAACAACTCCGTAAAGAAGAAG -3'
Posted On2019-10-17