Mutagenetix > Incidental Mutation

Incidental Mutation 'R9647:Trip4'

726813

Institutional Source

Beutler Lab

Gene Symbol

Trip4

Ensembl Gene

ENSMUSG00000032386

Gene Name

thyroid hormone receptor interactor 4

Synonyms

4930558E03Rik, ASC-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R9647 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65736212-65816076 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 65765616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 361 (L361*)

Ref Sequence

ENSEMBL: ENSMUSP00000113949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117083] [ENSMUST00000119245] [ENSMUST00000122410] [ENSMUST00000179395]

AlphaFold

Q9QXN3

Predicted Effect

probably null
Transcript: ENSMUST00000117083
AA Change: L361*

SMART Domains

Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: L361*

Domain	Start	End	E-Value	Type
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: L361*

SMART Domains

Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: L361*

Domain	Start	End	E-Value	Type
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: L361*

SMART Domains

Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: L361*

Domain	Start	End	E-Value	Type
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: L361*

SMART Domains

Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: L361*

Domain	Start	End	E-Value	Type
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: 99.7%
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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	A	16: 20,195,310 (GRCm39)	R729L	probably benign	Het
Actr3b	T	C	5: 26,037,408 (GRCm39)	S295P	probably benign	Het
Alb	G	A	5: 90,620,544 (GRCm39)		probably null	Het
Ank2	T	A	3: 126,792,623 (GRCm39)	N756I	possibly damaging	Het
Ankar	A	G	1: 72,689,307 (GRCm39)	Y1275H	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Birc6	G	A	17: 74,999,305 (GRCm39)	V4678M	probably damaging	Het
Bmpr1a	A	G	14: 34,136,694 (GRCm39)	V499A	probably benign	Het
Ccdc142	A	G	6: 83,079,259 (GRCm39)	N199D	probably benign	Het
Ccdc179	G	T	7: 51,663,311 (GRCm39)	Y38*	probably null	Het
Cdhr2	A	T	13: 54,867,394 (GRCm39)	M438L	probably benign	Het
Cfap74	A	T	4: 155,549,373 (GRCm39)	Q78L	unknown	Het
Crocc	A	T	4: 140,774,335 (GRCm39)	S155T	probably benign	Het
Depdc5	T	A	5: 33,081,567 (GRCm39)	H576Q	possibly damaging	Het
Dhx30	A	T	9: 109,922,214 (GRCm39)	L156Q	probably damaging	Het
Dido1	T	A	2: 180,315,068 (GRCm39)	T795S	probably benign	Het
Dlx1	T	C	2: 71,360,476 (GRCm39)	S47P	probably benign	Het
Dspp	G	A	5: 104,323,636 (GRCm39)	A260T	possibly damaging	Het
Ephx2	T	C	14: 66,326,957 (GRCm39)	T413A	probably benign	Het
Erp44	A	C	4: 48,205,166 (GRCm39)	L276V	probably benign	Het
Fastkd5	T	A	2: 130,457,729 (GRCm39)	Q287L	probably damaging	Het
Foxh1	T	A	15: 76,553,460 (GRCm39)	H114L	possibly damaging	Het
Fry	A	T	5: 150,292,984 (GRCm39)	L410F	probably damaging	Het
Gamt	T	A	10: 80,095,672 (GRCm39)	H86L	probably damaging	Het
Gdpd5	G	T	7: 99,104,241 (GRCm39)	R483L	probably benign	Het
Gm17067	A	C	7: 42,357,569 (GRCm39)	V311G	probably benign	Het
Gpatch2	C	T	1: 187,054,542 (GRCm39)	T422I	probably damaging	Het
Gpi1	A	G	7: 33,901,879 (GRCm39)	I546T	probably damaging	Het
Gyg1	A	C	3: 20,177,007 (GRCm39)	S328A	probably benign	Het
Heatr1	T	A	13: 12,441,679 (GRCm39)	V1491E	probably benign	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Ildr2	T	C	1: 166,137,038 (GRCm39)	S626P	probably benign	Het
Insr	T	G	8: 3,205,874 (GRCm39)	E1305A	probably benign	Het
Iqca1	T	A	1: 89,998,258 (GRCm39)	T572S	probably benign	Het
Kdm4a	A	T	4: 118,003,790 (GRCm39)	M762K	probably benign	Het
Kdm4a	T	A	4: 118,017,399 (GRCm39)	T556S	probably benign	Het
Lama1	A	G	17: 68,024,170 (GRCm39)	I89M		Het
Larp7	T	C	3: 127,334,211 (GRCm39)	K539E	probably damaging	Het
Mmadhc	C	A	2: 50,186,482 (GRCm39)		probably benign	Het
Mmp2	A	G	8: 93,567,114 (GRCm39)	D478G	probably damaging	Het
Nat10	T	C	2: 103,578,538 (GRCm39)	Q222R	probably benign	Het
Nlgn1	A	T	3: 25,488,182 (GRCm39)	Y718N	probably damaging	Het
Nlrp5	A	T	7: 23,107,576 (GRCm39)	E83V	probably benign	Het
Odc1	T	C	12: 17,598,614 (GRCm39)	V218A	possibly damaging	Het
Or10al4	A	T	17: 38,037,796 (GRCm39)	I294F	probably damaging	Het
Or11g26	G	C	14: 50,753,552 (GRCm39)	R297T	probably damaging	Het
Or9r3	A	G	10: 129,948,029 (GRCm39)	I210T	probably damaging	Het
Oxsr1	G	A	9: 119,083,932 (GRCm39)	S324F	probably damaging	Het
Pclo	C	T	5: 14,731,788 (GRCm39)	T304M		Het
Pgghg	A	G	7: 140,526,743 (GRCm39)	R687G	possibly damaging	Het
Plxna4	A	G	6: 32,228,044 (GRCm39)	S521P	probably damaging	Het
Rasgrp4	A	G	7: 28,839,917 (GRCm39)	S172G	probably damaging	Het
Rora	A	G	9: 69,255,450 (GRCm39)	D78G	probably damaging	Het
Sec1	G	T	7: 45,328,556 (GRCm39)	R164S	probably benign	Het
Sesn3	A	G	9: 14,225,999 (GRCm39)	N245D	probably benign	Het
Slc44a5	T	A	3: 153,953,370 (GRCm39)	W251R	possibly damaging	Het
Ssr2	T	C	3: 88,487,206 (GRCm39)	V7A	possibly damaging	Het
Syne2	A	G	12: 76,151,875 (GRCm39)	D1912G	possibly damaging	Het
Tcea2	C	A	2: 181,322,984 (GRCm39)	T1N	probably benign	Het
Tmem131l	T	C	3: 83,836,018 (GRCm39)	Y697C	probably damaging	Het
Tmx4	T	C	2: 134,481,588 (GRCm39)	M112V	probably benign	Het
Tom1	G	T	8: 75,785,495 (GRCm39)	A330S	probably benign	Het
Trmt9b	T	C	8: 36,979,210 (GRCm39)	I271T	probably benign	Het
Trp73	T	G	4: 154,165,788 (GRCm39)	T142P	probably damaging	Het
Trpm5	T	A	7: 142,634,498 (GRCm39)	D683V	possibly damaging	Het
Trpm7	T	C	2: 126,667,562 (GRCm39)	I810V	probably damaging	Het
Trps1	A	T	15: 50,524,944 (GRCm39)	S995R	probably benign	Het
Ttn	C	A	2: 76,608,269 (GRCm39)	E17885*	probably null	Het
Uggt2	A	T	14: 119,256,312 (GRCm39)	Y1120N	probably damaging	Het
Unc13a	A	T	8: 72,104,882 (GRCm39)	N793K	probably damaging	Het
Vcf1	T	C	11: 113,568,146 (GRCm39)	D103G	probably damaging	Het
Vmn2r94	T	C	17: 18,463,884 (GRCm39)	H802R	probably benign	Het
Vmn2r-ps158	T	C	7: 42,697,171 (GRCm39)	C743R	probably damaging	Het
Zdhhc5	A	T	2: 84,524,750 (GRCm39)	M190K	probably benign	Het
Zfp719	A	T	7: 43,233,602 (GRCm39)	N7I	possibly damaging	Het
Zfp735	A	G	11: 73,580,600 (GRCm39)	Y33C	probably damaging	Het
Zgrf1	C	T	3: 127,355,251 (GRCm39)	T159I	probably benign	Het
Zzef1	A	T	11: 72,760,651 (GRCm39)	T1325S	probably benign	Het

Other mutations in Trip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTGCCATGTTGAGAAGAAATTGG -3'
(R):5'- TGAATAGGTAGTGTGTCCTACCTG -3'

Sequencing Primer
(F):5'- TGGTATCTAAGGCCTATGAAACAGAC -3'
(R):5'- AGGTAGTGTGTCCTACCTGTTTTCC -3'

Posted On

2022-10-06