Mutagenetix > Incidental Mutation

Incidental Mutation 'R5595:Trip10'

437803

Institutional Source

Beutler Lab

Gene Symbol

Trip10

Ensembl Gene

ENSMUSG00000019487

Gene Name

thyroid hormone receptor interactor 10

Synonyms

Cip4

MMRRC Submission

043147-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R5595 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57556455-57570665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57569460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 495 (Y495N)

Ref Sequence

ENSEMBL: ENSMUSP00000153467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019631] [ENSMUST00000224152] [ENSMUST00000224885] [ENSMUST00000224947]

AlphaFold

Q8CJ53

Predicted Effect

probably damaging
Transcript: ENSMUST00000019631
AA Change: Y494N

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

SMART Domains

Protein: ENSMUSP00000019631
Gene: ENSMUSG00000019487
AA Change: Y494N

Domain	Start	End	E-Value	Type
FCH	1	94	9.95e-29	SMART
coiled coil region	117	197	N/A	INTRINSIC
low complexity region	310	318	N/A	INTRINSIC
PDB:2KE4\|A	332	425	3e-35	PDB
low complexity region	433	455	N/A	INTRINSIC
low complexity region	458	467	N/A	INTRINSIC
SH3	489	546	2.44e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000224152
AA Change: Y551N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224261

Predicted Effect

probably damaging
Transcript: ENSMUST00000224885
AA Change: Y550N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224904

Predicted Effect

probably damaging
Transcript: ENSMUST00000224947
AA Change: Y495N

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased insulin-stimulated glucose uptake in adipocytes and decreased circulating glucose levels. Mice homozygous for another knock-out allele exhibit impaired integrin-dependent T-cell trafficking. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,682,143 (GRCm39)	F991S	probably benign	Het
4931406B18Rik	A	G	7: 43,147,296 (GRCm39)	I218T	possibly damaging	Het
9930111J21Rik2	C	T	11: 48,910,538 (GRCm39)	A632T	possibly damaging	Het
Akt1	A	T	12: 112,625,050 (GRCm39)	L166Q	probably null	Het
Alpk2	A	T	18: 65,399,319 (GRCm39)	D2086E	probably damaging	Het
Ankrd11	A	T	8: 123,621,043 (GRCm39)	C915*	probably null	Het
Ankrd44	T	C	1: 54,801,506 (GRCm39)	T274A	probably damaging	Het
Ankrd44	A	T	1: 54,774,209 (GRCm39)	I398K	probably damaging	Het
Arhgef2	A	G	3: 88,550,283 (GRCm39)	T663A	probably benign	Het
Btbd16	G	A	7: 130,425,033 (GRCm39)	M471I	possibly damaging	Het
Btbd16	C	A	7: 130,425,034 (GRCm39)	Q472K	probably damaging	Het
Cdc37	G	A	9: 21,054,509 (GRCm39)	R39C	probably damaging	Het
Cnnm1	A	G	19: 43,453,596 (GRCm39)	N537S	possibly damaging	Het
Cop1	T	A	1: 159,077,643 (GRCm39)	D159E	probably benign	Het
Crtac1	C	T	19: 42,402,390 (GRCm39)	V73I	probably benign	Het
Cryz	T	A	3: 154,312,155 (GRCm39)	V84E	probably damaging	Het
Ctnnd2	C	T	15: 30,669,689 (GRCm39)	L433F	probably benign	Het
Ctsq	C	A	13: 61,184,874 (GRCm39)	D271Y	probably benign	Het
Cyp3a25	A	C	5: 145,931,673 (GRCm39)		probably null	Het
Dmbt1	G	C	7: 130,655,797 (GRCm39)	W412C	probably benign	Het
Eif4e1b	G	A	13: 54,934,529 (GRCm39)	V131I	possibly damaging	Het
Epha1	A	G	6: 42,341,568 (GRCm39)	V494A	possibly damaging	Het
Fbxl4	T	C	4: 22,433,641 (GRCm39)	S593P	probably damaging	Het
Fbxo41	G	A	6: 85,456,883 (GRCm39)	P429S	probably benign	Het
Fem1al	T	C	11: 29,774,288 (GRCm39)	N390D	probably benign	Het
Fgfr3	G	A	5: 33,887,347 (GRCm39)	C204Y	probably damaging	Het
Gbf1	T	C	19: 46,272,861 (GRCm39)	V1665A	possibly damaging	Het
Htt	T	A	5: 35,062,741 (GRCm39)	V2825E	probably damaging	Het
Irs1	A	T	1: 82,267,646 (GRCm39)	V190E	probably damaging	Het
Kics2	T	C	10: 121,576,052 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,878,161 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,747,905 (GRCm39)		probably benign	Het
Meox1	T	C	11: 101,770,169 (GRCm39)	E186G	probably damaging	Het
Micu2	G	A	14: 58,209,201 (GRCm39)	R86W	probably damaging	Het
Mrgprb1	A	T	7: 48,097,432 (GRCm39)	I160K	probably damaging	Het
Nckap1l	T	A	15: 103,384,085 (GRCm39)	M561K	possibly damaging	Het
Or4c104	A	T	2: 88,586,749 (GRCm39)	I90N	probably damaging	Het
Or52s6	A	T	7: 103,091,635 (GRCm39)	S232T	probably damaging	Het
Or56b35	A	T	7: 104,963,213 (GRCm39)	M1L	probably benign	Het
Otoa	T	A	7: 120,721,200 (GRCm39)	L405H	probably damaging	Het
Phyhip	A	T	14: 70,704,314 (GRCm39)	M178L	probably benign	Het
Pkd1l3	A	T	8: 110,382,152 (GRCm39)	N1630I	probably damaging	Het
Plek2	T	A	12: 78,940,883 (GRCm39)	T247S	probably benign	Het
Rhbdl3	T	C	11: 80,228,409 (GRCm39)	V293A	probably damaging	Het
Rock2	T	A	12: 16,992,810 (GRCm39)	F193Y	probably damaging	Het
Scn3a	C	T	2: 65,291,057 (GRCm39)	M1896I	probably benign	Het
Snrnp200	T	C	2: 127,067,933 (GRCm39)	V810A	probably damaging	Het
Taar4	G	A	10: 23,836,639 (GRCm39)	S83N	probably damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tec	T	A	5: 72,926,087 (GRCm39)	I322F	possibly damaging	Het
Teddm2	T	C	1: 153,726,146 (GRCm39)	I190V	probably benign	Het
Tmem117	A	G	15: 94,992,765 (GRCm39)	E475G	probably damaging	Het
Ush2a	T	C	1: 188,638,695 (GRCm39)	V4035A	possibly damaging	Het
Utrn	C	T	10: 12,558,062 (GRCm39)	V1466M	possibly damaging	Het
Vasp	A	G	7: 18,991,816 (GRCm39)		probably benign	Het
Vmn1r89	A	T	7: 12,953,857 (GRCm39)	M130L	possibly damaging	Het
Vmn2r2	A	T	3: 64,034,036 (GRCm39)	D495E	possibly damaging	Het
Zfp213	A	G	17: 23,780,160 (GRCm39)	V120A	possibly damaging	Het

Other mutations in Trip10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Trip10	APN	17	57,561,332 (GRCm39)	missense	possibly damaging	0.91
IGL01639:Trip10	APN	17	57,561,165 (GRCm39)	unclassified	probably benign
IGL01758:Trip10	APN	17	57,568,409 (GRCm39)	missense	possibly damaging	0.51
IGL02184:Trip10	APN	17	57,564,272 (GRCm39)	missense	probably damaging	1.00
IGL02554:Trip10	APN	17	57,570,135 (GRCm39)	missense	probably damaging	0.99
IGL02641:Trip10	APN	17	57,569,411 (GRCm39)	missense	probably benign	0.06
R0092:Trip10	UTSW	17	57,557,798 (GRCm39)	missense	possibly damaging	0.46
R0139:Trip10	UTSW	17	57,568,633 (GRCm39)	splice site	probably null
R0179:Trip10	UTSW	17	57,569,349 (GRCm39)	splice site	probably benign
R1173:Trip10	UTSW	17	57,560,363 (GRCm39)	missense	probably damaging	0.98
R1416:Trip10	UTSW	17	57,557,800 (GRCm39)	missense	probably damaging	1.00
R2223:Trip10	UTSW	17	57,570,039 (GRCm39)	missense	possibly damaging	0.70
R2259:Trip10	UTSW	17	57,562,135 (GRCm39)	missense	probably benign	0.00
R3950:Trip10	UTSW	17	57,560,411 (GRCm39)	critical splice donor site	probably null
R4420:Trip10	UTSW	17	57,562,448 (GRCm39)	missense	probably benign	0.05
R4643:Trip10	UTSW	17	57,568,658 (GRCm39)	nonsense	probably null
R4940:Trip10	UTSW	17	57,570,017 (GRCm39)	missense	possibly damaging	0.65
R5189:Trip10	UTSW	17	57,568,288 (GRCm39)	critical splice acceptor site	probably null
R5946:Trip10	UTSW	17	57,557,963 (GRCm39)	missense	probably damaging	0.99
R6613:Trip10	UTSW	17	57,562,197 (GRCm39)	splice site	probably null
R6738:Trip10	UTSW	17	57,563,899 (GRCm39)	missense	probably benign
R6948:Trip10	UTSW	17	57,569,448 (GRCm39)	missense	probably damaging	1.00
R6994:Trip10	UTSW	17	57,562,331 (GRCm39)	missense	probably damaging	1.00
R7489:Trip10	UTSW	17	57,557,966 (GRCm39)	missense	probably damaging	1.00
R7729:Trip10	UTSW	17	57,569,442 (GRCm39)	missense	probably damaging	1.00
R7750:Trip10	UTSW	17	57,568,667 (GRCm39)	missense	possibly damaging	0.58
R8260:Trip10	UTSW	17	57,564,314 (GRCm39)	missense	probably benign
R8781:Trip10	UTSW	17	57,562,313 (GRCm39)	missense	probably benign	0.01
R9005:Trip10	UTSW	17	57,569,416 (GRCm39)	missense	probably damaging	0.99
R9108:Trip10	UTSW	17	57,560,519 (GRCm39)	missense	probably damaging	1.00
RF024:Trip10	UTSW	17	57,562,045 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCCAGGACAATAAGGAGAGGT -3'
(R):5'- AGCTGTCATGTTTGATACCGA -3'

Sequencing Primer
(F):5'- TCTGCCTAGAATCTCACAGTGAGG -3'
(R):5'- GTCATGTTTGATACCGAGGACATAG -3'

Posted On

2016-10-26