Mutagenetix > Incidental Mutation

Incidental Mutation 'R1886:Trip4'

209552

Institutional Source

Beutler Lab

Gene Symbol

Trip4

Ensembl Gene

ENSMUSG00000032386

Gene Name

thyroid hormone receptor interactor 4

Synonyms

4930558E03Rik, ASC-1

MMRRC Submission

039907-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R1886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65736212-65816076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65782163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 190 (I190F)

Ref Sequence

ENSEMBL: ENSMUSP00000137304 (fasta)

Gene Model

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

AlphaFold

Q9QXN3

Predicted Effect

probably null
Transcript: ENSMUST00000117083
AA Change: I190F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113949
Gene: ENSMUSG00000032386
AA Change: I190F

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: I190F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112385
Gene: ENSMUSG00000032386
AA Change: I190F

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: I190F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112866
Gene: ENSMUSG00000032386
AA Change: I190F

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: I190F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137304
Gene: ENSMUSG00000032386
AA Change: I190F

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: 97.2%
3x: 96.2%
10x: 93.1%
20x: 85.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acacb	T	A	5: 114,357,020 (GRCm39)	L1317Q	probably damaging	Het
Acsf3	T	C	8: 123,510,741 (GRCm39)	V293A	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Ahnak	G	A	19: 8,993,343 (GRCm39)	D4876N	probably damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Arhgdia	T	C	11: 120,470,244 (GRCm39)	D143G	probably benign	Het
Bcl9	G	T	3: 97,122,713 (GRCm39)	R29S	probably benign	Het
Bhmt2	T	A	13: 93,798,998 (GRCm39)	K274N	probably benign	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cfap299	A	G	5: 98,949,690 (GRCm39)	N208S	probably benign	Het
Cit	A	G	5: 116,071,545 (GRCm39)	Y584C	probably damaging	Het
Crebl2	T	C	6: 134,828,059 (GRCm39)	M77T	probably benign	Het
Dach2	G	A	X: 112,208,305 (GRCm39)	G61D	probably benign	Het
Ddx4	A	T	13: 112,759,199 (GRCm39)	D237E	probably damaging	Het
Dgcr8	A	G	16: 18,096,218 (GRCm39)	I490T	possibly damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Dnah17	T	A	11: 117,998,987 (GRCm39)	I929F	possibly damaging	Het
Eif3f	A	G	7: 108,539,958 (GRCm39)	T289A	probably benign	Het
Ercc5	A	T	1: 44,215,136 (GRCm39)	K890*	probably null	Het
Esrp2	A	T	8: 106,860,489 (GRCm39)	V247E	probably damaging	Het
Evpl	C	T	11: 116,118,402 (GRCm39)	G735E	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxl21	A	G	13: 56,674,906 (GRCm39)	I60V	probably benign	Het
Frem3	A	G	8: 81,340,514 (GRCm39)	I936V	probably benign	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gad1-ps	T	C	10: 99,281,444 (GRCm39)		noncoding transcript	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gmppa	T	C	1: 75,419,152 (GRCm39)	V353A	probably damaging	Het
Hmcn1	T	C	1: 150,453,046 (GRCm39)	E5423G	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Krt12	T	C	11: 99,309,402 (GRCm39)	D286G	probably damaging	Het
Krt75	A	T	15: 101,479,532 (GRCm39)	M266K	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Lag3	T	C	6: 124,886,402 (GRCm39)	N184D	probably damaging	Het
Lsm10	C	G	4: 125,991,741 (GRCm39)	D32E	probably benign	Het
Mettl5	A	G	2: 69,711,149 (GRCm39)	V123A	probably damaging	Het
Mfrp	A	G	9: 44,014,785 (GRCm39)	D274G	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Mplkipl1	A	G	19: 61,164,136 (GRCm39)	F100L	probably damaging	Het
Mttp	A	T	3: 137,798,376 (GRCm39)	V840D	probably damaging	Het
Nadk2	A	C	15: 9,103,446 (GRCm39)	N308H	possibly damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlk	T	A	11: 78,477,754 (GRCm39)	I330F	probably damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5p73	A	T	7: 108,064,947 (GRCm39)	M139L	probably benign	Het
Orc2	T	C	1: 58,510,247 (GRCm39)		probably null	Het
Orc3	A	G	4: 34,584,829 (GRCm39)	Y459H	probably damaging	Het
Pah	T	A	10: 87,364,190 (GRCm39)	N30K	possibly damaging	Het
Pcsk4	T	C	10: 80,164,794 (GRCm39)	K74E	probably benign	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pfkm	A	G	15: 98,025,627 (GRCm39)	N547S	probably damaging	Het
Por	A	G	5: 135,763,128 (GRCm39)	E546G	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Prdm1	T	A	10: 44,315,754 (GRCm39)	D794V	probably damaging	Het
Prdx5	A	G	19: 6,885,558 (GRCm39)	I32T	probably benign	Het
Prlhr	G	T	19: 60,455,932 (GRCm39)	C211*	probably null	Het
Ripk3	C	T	14: 56,025,694 (GRCm39)		probably null	Het
Rmnd5b	G	A	11: 51,518,465 (GRCm39)	A137V	probably damaging	Het
Rwdd2b	A	T	16: 87,234,013 (GRCm39)	F72I	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Septin1	A	G	7: 126,813,937 (GRCm39)		probably benign	Het
Serpinb9h	C	T	13: 33,588,203 (GRCm39)	R263C	possibly damaging	Het
Slc30a10	T	A	1: 185,195,061 (GRCm39)	I291N	probably damaging	Het
Slc7a9	T	G	7: 35,152,827 (GRCm39)	C20W	possibly damaging	Het
Slc7a9	G	C	7: 35,152,828 (GRCm39)	A21P	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Sra1	T	C	18: 36,801,830 (GRCm39)	M87V	probably benign	Het
Syvn1	T	C	19: 6,099,257 (GRCm39)	S169P	possibly damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tmem62	A	T	2: 120,817,151 (GRCm39)	I236F	probably damaging	Het
Trpa1	T	C	1: 14,959,649 (GRCm39)	D679G	probably benign	Het
Ttc22	T	A	4: 106,494,063 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Usp36	A	T	11: 118,163,784 (GRCm39)	Y255N	probably damaging	Het
Zfp944	A	T	17: 22,558,960 (GRCm39)	Y96N	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
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
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'- GCCTTGGTTATTAACTCAAAGCAC -3'
(R):5'- TGTACTATCAGGCACAAGAAAGC -3'

Sequencing Primer
(F):5'- TCCGATGGTCCAGAGTTCAAATC -3'
(R):5'- GCAACAACTCCGTAAAGAAGAAG -3'

Posted On

2014-06-30