Incidental Mutation 'R7062:Trip4'
ID548347
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: 0.828) question?
Stock #R7062 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location65828930-65908794 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 65885010 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 7 (A7T)
Ref Sequence ENSEMBL: ENSMUSP00000117648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117083] [ENSMUST00000119245] [ENSMUST00000122410] [ENSMUST00000134338] [ENSMUST00000179395]
Predicted Effect probably benign
Transcript: ENSMUST00000117083
AA Change: A7T

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: A7T

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: A7T

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: A7T

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: A7T

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: A7T

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
AA Change: A7T

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000179395
AA Change: A7T

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: A7T

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 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (86/87)
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
Abcc9 T A 6: 142,599,146 D1370V probably damaging Het
Ackr1 A T 1: 173,332,115 I279N possibly damaging Het
Adcy10 A G 1: 165,538,522 H536R probably benign Het
Adgrb3 T C 1: 25,826,085 T226A possibly damaging Het
Apol10b T A 15: 77,585,273 M235L probably benign Het
Arhgap44 T C 11: 65,011,932 T570A probably benign Het
Astn1 A G 1: 158,688,511 probably null Het
Camsap3 A G 8: 3,607,834 probably benign Het
Ccdc73 C T 2: 104,951,878 A193V probably damaging Het
Ccl20 G A 1: 83,117,814 C32Y probably damaging Het
Cdk11b A G 4: 155,626,811 E16G probably damaging Het
Celsr2 T A 3: 108,402,510 N1591I possibly damaging Het
Col5a2 T C 1: 45,417,625 E306G probably benign Het
Cpa1 C T 6: 30,640,677 A106V probably benign Het
Ctdspl G A 9: 119,037,470 R199H probably damaging Het
Cyfip2 G A 11: 46,260,832 P547S probably damaging Het
Cyp2c37 A T 19: 39,995,546 probably null Het
Dnajc16 A G 4: 141,766,690 F549L probably damaging Het
Dnm3 T A 1: 162,134,491 K50* probably null Het
Eci1 C T 17: 24,426,740 probably benign Het
Eif2b4 C T 5: 31,192,831 C49Y probably benign Het
Emc3 A T 6: 113,522,796 I56N probably damaging Het
Enthd1 A G 15: 80,452,544 L563P probably damaging Het
Ercc4 T A 16: 13,132,947 I635K probably damaging Het
Espl1 A C 15: 102,298,896 N265T probably benign Het
Fads2 T C 19: 10,065,598 probably null Het
Fam186a G A 15: 99,933,640 probably benign Het
Fastkd1 A T 2: 69,704,322 I368K possibly damaging Het
Fat1 G A 8: 44,950,216 M1I probably null Het
Foxj1 T C 11: 116,331,993 E328G probably benign Het
Gfod2 T C 8: 105,722,876 probably benign Het
Gm6525 C T 3: 84,174,891 R40C probably benign Het
Gna12 G A 5: 140,785,485 T144I probably benign Het
Ighv9-3 T C 12: 114,141,092 M11V probably benign Het
Kcnj14 T C 7: 45,817,890 Y344C probably damaging Het
Lrrc63 A T 14: 75,086,297 S496T probably benign Het
Ltn1 T C 16: 87,427,603 T78A probably damaging Het
Matr3 T A 18: 35,579,019 probably null Het
Mcpt4 A G 14: 56,060,668 M142T probably benign Het
Mroh7 A G 4: 106,683,980 F1154S probably damaging Het
Mrpl1 G T 5: 96,213,791 L12F probably benign Het
Myo3b G A 2: 70,217,157 V308I probably benign Het
Nfasc A G 1: 132,601,969 probably null Het
Npc1l1 T A 11: 6,217,807 M995L probably benign Het
Nvl A G 1: 181,112,334 I617T probably benign Het
Oas1h C A 5: 120,861,465 probably benign Het
Oasl2 T A 5: 114,911,091 Y197* probably null Het
Olfr1156 T C 2: 87,950,224 E3G probably benign Het
Olfr262 T C 19: 12,240,725 N312S probably benign Het
Olfr495 C T 7: 108,395,830 R237* probably null Het
Olfr598 T C 7: 103,329,086 V200A probably benign Het
Olfr728 A G 14: 50,140,450 L63P probably damaging Het
Olfr955 A T 9: 39,470,057 I223N probably benign Het
Orc6 T C 8: 85,302,908 V27A probably damaging Het
Parp4 A T 14: 56,614,759 R799S possibly damaging Het
Pcdhga1 C A 18: 37,825,077 S826R probably damaging Het
Phldb1 T C 9: 44,696,135 R1258G probably damaging Het
Ppfia1 T C 7: 144,552,473 S21G probably benign Het
Ppp1r18 C A 17: 35,868,211 T326K probably damaging Het
Psg26 A G 7: 18,482,596 L106P probably damaging Het
Rabgap1l A T 1: 160,226,650 D265E probably benign Het
Rasgrp4 T C 7: 29,150,194 L554P possibly damaging Het
Rnf17 G T 14: 56,465,654 V621L probably benign Het
Sart3 T C 5: 113,745,602 K783R possibly damaging Het
Slc23a2 T A 2: 132,091,269 I90F probably damaging Het
Slc5a2 A T 7: 128,270,040 M331L probably damaging Het
Slc5a7 C G 17: 54,293,001 G128A probably damaging Het
Smcr8 A T 11: 60,780,354 Q776L probably damaging Het
Smpd4 T A 16: 17,640,971 D519E probably damaging Het
Smurf1 A T 5: 144,893,546 probably null Het
Spata18 T A 5: 73,659,293 N125K probably benign Het
Spice1 T A 16: 44,357,896 M94K probably damaging Het
Stard4 T C 18: 33,205,534 probably null Het
Stx17 A G 4: 48,140,442 D49G probably benign Het
Tbce T C 13: 14,019,795 D93G possibly damaging Het
Tbx21 T A 11: 97,098,893 D491V probably damaging Het
Tmbim4 G T 10: 120,208,826 probably benign Het
Tmem209 C T 6: 30,502,017 R62H probably damaging Het
Tmem237 A T 1: 59,119,612 probably null Het
Tmprss9 T C 10: 80,895,049 I803T probably benign Het
Unc13a T C 8: 71,663,237 D107G probably benign Het
Uso1 C A 5: 92,192,740 Q672K possibly damaging Het
Washc2 T A 6: 116,219,988 N239K possibly damaging Het
Zfp661 A G 2: 127,577,120 C367R probably damaging Het
Znrf3 T A 11: 5,281,550 E558D probably damaging 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
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
R7556:Trip4 UTSW 9 65874873 nonsense probably null
R7970:Trip4 UTSW 9 65839016 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'- TAAAGACCGCAGTCCCTTTAATC -3'
(R):5'- AGTGCCAAAGAATCATCCGAGC -3'

Sequencing Primer
(F):5'- CGCAGTCCCTTTAATCATACTTTTC -3'
(R):5'- GAATCATCCGAGCACGTTTC -3'
Posted On2019-05-13