Mutagenetix > Incidental Mutation

Incidental Mutation 'R3907:Trip4'

474630

Institutional Source

Beutler Lab

Gene Symbol

Trip4

Ensembl Gene

ENSMUSG00000032386

Gene Name

thyroid hormone receptor interactor 4

Synonyms

4930558E03Rik, ASC-1

MMRRC Submission

040908-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R3907 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65736212-65816076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65740708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 533 (I533T)

Ref Sequence

ENSEMBL: ENSMUSP00000137304 (fasta)

Gene Model

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

AlphaFold

Q9QXN3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116032

Predicted Effect

silent
Transcript: ENSMUST00000117083

SMART Domains

Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386

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

silent
Transcript: ENSMUST00000119245

SMART Domains

Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386

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 benign
Transcript: ENSMUST00000122410
AA Change: I533T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: I533T

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 benign
Transcript: ENSMUST00000179395
AA Change: I533T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: I533T

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ampd3	A	G	7: 110,392,877 (GRCm39)	D215G	possibly damaging	Het
Ank2	A	G	3: 126,810,547 (GRCm39)	L513P	probably damaging	Het
Apba1	T	C	19: 23,914,870 (GRCm39)	I690T	probably damaging	Het
Arid1a	T	C	4: 133,420,223 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asns	C	T	6: 7,682,270 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Asph	T	C	4: 9,474,934 (GRCm39)	K680R	probably benign	Het
Atp2b4	A	T	1: 133,666,324 (GRCm39)	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,012,007 (GRCm39)	M483K	probably damaging	Het
Car4	G	A	11: 84,855,183 (GRCm39)	V141M	probably damaging	Het
Cct4	A	G	11: 22,951,560 (GRCm39)	I376V	probably benign	Het
Chrm4	C	T	2: 91,758,084 (GRCm39)	A164V	probably damaging	Het
Csf3r	A	T	4: 125,928,240 (GRCm39)	D291V	probably benign	Het
Dcaf6	A	T	1: 165,251,949 (GRCm39)	C58*	probably null	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Defb4	A	T	8: 19,251,277 (GRCm39)	Q48L	possibly damaging	Het
Dnaaf9	C	T	2: 130,578,496 (GRCm39)	A663T	probably damaging	Het
Duox2	C	T	2: 122,113,541 (GRCm39)		probably null	Het
E130308A19Rik	C	T	4: 59,752,393 (GRCm39)	T502I	probably benign	Het
Ephb1	A	G	9: 101,878,925 (GRCm39)	C522R	probably benign	Het
Fam76a	T	C	4: 132,643,432 (GRCm39)	K101E	probably damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Gm10110	T	C	14: 90,135,583 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,540,716 (GRCm39)		probably benign	Het
Hars1	A	T	18: 36,915,769 (GRCm39)	D48E	probably benign	Het
Hmgcll1	G	A	9: 75,979,943 (GRCm39)	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,217,538 (GRCm39)	S18P	probably damaging	Het
Iws1	G	A	18: 32,212,973 (GRCm39)	E134K	possibly damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Krt16	A	G	11: 100,137,989 (GRCm39)	V329A	possibly damaging	Het
Loxhd1	A	T	18: 77,496,464 (GRCm39)	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 130,984,651 (GRCm39)	S234T	probably damaging	Het
Mxd1	G	T	6: 86,627,942 (GRCm39)	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,133,071 (GRCm39)	D905E	possibly damaging	Het
Or4c117	A	C	2: 88,955,927 (GRCm39)	Y49*	probably null	Het
Or6z7	A	T	7: 6,483,678 (GRCm39)	V159D	probably damaging	Het
Otoa	A	T	7: 120,724,788 (GRCm39)	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,282,431 (GRCm39)	S157P	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,410 (GRCm39)	I345T	probably benign	Het
Prrt4	G	T	6: 29,177,173 (GRCm39)	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,702,239 (GRCm39)	D347G	possibly damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Rcan1	A	G	16: 92,262,917 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,002,557 (GRCm39)	L2004F	probably benign	Het
Rnf185	A	G	11: 3,376,681 (GRCm39)		probably benign	Het
Shank2	C	T	7: 143,963,313 (GRCm39)	P307L	probably damaging	Het
Slc19a3	G	A	1: 82,992,534 (GRCm39)	R396C	possibly damaging	Het
Stn1	T	C	19: 47,496,262 (GRCm39)	D321G	probably damaging	Het
Taar7a	T	C	10: 23,868,457 (GRCm39)	Y308C	probably benign	Het
Tespa1	T	C	10: 130,192,666 (GRCm39)		probably benign	Het
Tmcc2	T	C	1: 132,288,376 (GRCm39)	D359G	probably damaging	Het
Trhde	C	T	10: 114,636,601 (GRCm39)	G202E	possibly damaging	Het
Trip12	T	C	1: 84,709,827 (GRCm39)	T469A	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,983 (GRCm39)	I154T	probably damaging	Het
Ttn	C	A	2: 76,733,686 (GRCm39)		probably benign	Het
Ugt8a	T	C	3: 125,708,631 (GRCm39)	T160A	possibly damaging	Het
Usp54	A	T	14: 20,636,181 (GRCm39)	S288T	probably damaging	Het
Utrn	C	T	10: 12,585,926 (GRCm39)		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
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

Posted On

2017-04-14