Mutagenetix > Incidental Mutation

Incidental Mutation 'R8035:Trip13'

618200

Institutional Source

Beutler Lab

Gene Symbol

Trip13

Ensembl Gene

ENSMUSG00000021569

Gene Name

thyroid hormone receptor interactor 13

Synonyms

D13Ertd328e, 2410002G23Rik

MMRRC Submission

067472-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R8035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74060577-74085855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 74061373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 430 (A430G)

Ref Sequence

ENSEMBL: ENSMUSP00000022053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022053] [ENSMUST00000222156]

AlphaFold

Q3UA06

Predicted Effect

probably benign
Transcript: ENSMUST00000022053
AA Change: A430G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022053
Gene: ENSMUSG00000021569
AA Change: A430G

Domain	Start	End	E-Value	Type
AAA	171	323	1.13e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000222156

Meta Mutation Damage Score

0.0949

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality, infertility, reduced gonad size, tail defects and meiotic arrest of sperm and oocytes associated with unrepaired double strand breaks. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,530,243 (GRCm39)	V938A	probably damaging	Het
Acot7	A	G	4: 152,337,611 (GRCm39)	T254A	possibly damaging	Het
Ankle2	C	T	5: 110,402,318 (GRCm39)	R943C	probably damaging	Het
Arrdc2	T	C	8: 71,292,026 (GRCm39)	K7R	probably benign	Het
Arsi	T	A	18: 61,049,442 (GRCm39)	H108Q	probably damaging	Het
Asap3	T	C	4: 135,968,514 (GRCm39)	Y689H	probably benign	Het
Bnip3	G	A	7: 138,493,666 (GRCm39)	T181I	probably damaging	Het
C87436	T	C	6: 86,424,337 (GRCm39)	S290P	probably benign	Het
Ccdc168	A	G	1: 44,100,711 (GRCm39)	V129A	possibly damaging	Het
Ccdc6	A	G	10: 69,933,331 (GRCm39)	I68V	probably benign	Het
Ccr3	T	C	9: 123,829,012 (GRCm39)	F116L	probably benign	Het
Cdh9	G	T	15: 16,831,152 (GRCm39)	V330F	probably damaging	Het
Cdkn1a	T	C	17: 29,318,350 (GRCm39)	C155R	possibly damaging	Het
Ctr9	C	T	7: 110,633,664 (GRCm39)	A165V	probably damaging	Het
Cyp2b19	G	A	7: 26,470,675 (GRCm39)	G439R	probably damaging	Het
Fam161b	A	T	12: 84,395,430 (GRCm39)	D504E	probably damaging	Het
Fdps	G	T	3: 89,002,783 (GRCm39)	P122T	probably benign	Het
Fmn2	T	C	1: 174,547,437 (GRCm39)	Y1454H	probably damaging	Het
Gipc2	T	C	3: 151,799,866 (GRCm39)	E288G	probably damaging	Het
Gm21411	A	C	4: 146,982,167 (GRCm39)		probably null	Het
Hnrnpc	C	T	14: 52,321,719 (GRCm39)	D32N	possibly damaging	Het
Hspa12b	T	A	2: 130,982,859 (GRCm39)	I239N	probably damaging	Het
Hspb8	T	C	5: 116,553,485 (GRCm39)	N138D	probably damaging	Het
Igkv4-69	T	C	6: 69,260,921 (GRCm39)	I69V	possibly damaging	Het
Itih1	A	C	14: 30,664,482 (GRCm39)	D81E	probably benign	Het
Kdm3b	T	C	18: 34,941,781 (GRCm39)	L624S	probably damaging	Het
Klk6	A	G	7: 43,478,086 (GRCm39)	M153V	probably benign	Het
Lgals9	A	T	11: 78,854,302 (GRCm39)	Y327*	probably null	Het
Lims1	T	A	10: 58,246,263 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 40,750,667 (GRCm39)	I3080F		Het
Mars2	C	T	1: 55,277,456 (GRCm39)	T353I	possibly damaging	Het
Matn4	T	C	2: 164,238,960 (GRCm39)	N307S	probably damaging	Het
Mettl17	C	T	14: 52,128,947 (GRCm39)	H406Y	probably damaging	Het
Mtor	T	A	4: 148,630,856 (GRCm39)	M2271K	probably benign	Het
Mtrex	T	C	13: 113,035,336 (GRCm39)	E539G	probably benign	Het
Myt1	T	C	2: 181,437,532 (GRCm39)	L81P	probably damaging	Het
Or56a3b	T	A	7: 104,770,757 (GRCm39)	L31H	probably damaging	Het
Or5b118	T	C	19: 13,449,263 (GRCm39)	F310L	probably benign	Het
Or6k4	A	T	1: 173,964,490 (GRCm39)	Y60F	probably damaging	Het
Or8b38	C	T	9: 37,972,961 (GRCm39)	T115I	probably damaging	Het
Pbrm1	A	G	14: 30,806,109 (GRCm39)	K1030R	probably damaging	Het
Rap1gds1	A	T	3: 138,721,311 (GRCm39)	D119E	probably damaging	Het
Rgs9	A	G	11: 109,164,150 (GRCm39)	I151T	probably benign	Het
Slc26a7	A	C	4: 14,621,338 (GRCm39)	M16R	possibly damaging	Het
Slx4ip	T	G	2: 136,885,945 (GRCm39)	Y88*	probably null	Het
Sppl2c	T	A	11: 104,078,192 (GRCm39)	W331R	probably benign	Het
Srcap	T	C	7: 127,141,784 (GRCm39)	S1855P	probably benign	Het
Svs5	A	G	2: 164,079,053 (GRCm39)	F285L	probably benign	Het
Tjp1	G	T	7: 64,992,450 (GRCm39)	A76E	probably benign	Het
Trpm6	A	G	19: 18,770,226 (GRCm39)	E337G	probably damaging	Het
Tut7	A	T	13: 59,937,004 (GRCm39)	N1214K	probably benign	Het
Vmn1r37	T	A	6: 66,708,377 (GRCm39)	M1K	probably null	Het
Wdr72	T	G	9: 74,086,783 (GRCm39)		probably benign	Het
Zfp583	T	C	7: 6,319,771 (GRCm39)	K414E	probably damaging	Het
Zfp940	A	C	7: 29,544,948 (GRCm39)	S320A	probably benign	Het
Zfp979	A	C	4: 147,697,763 (GRCm39)	C315W	probably damaging	Het

Other mutations in Trip13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03094:Trip13	APN	13	74,081,075 (GRCm39)	missense	probably benign	0.00
E0370:Trip13	UTSW	13	74,068,558 (GRCm39)	splice site	probably benign
R0153:Trip13	UTSW	13	74,068,183 (GRCm39)	missense	possibly damaging	0.52
R1945:Trip13	UTSW	13	74,076,043 (GRCm39)	missense	probably damaging	1.00
R3880:Trip13	UTSW	13	74,066,597 (GRCm39)	missense	probably damaging	1.00
R4206:Trip13	UTSW	13	74,081,009 (GRCm39)	missense	probably benign	0.00
R5758:Trip13	UTSW	13	74,085,614 (GRCm39)	missense	probably benign	0.00
R6278:Trip13	UTSW	13	74,061,439 (GRCm39)	missense	probably benign	0.00
R6298:Trip13	UTSW	13	74,084,378 (GRCm39)	nonsense	probably null
R7106:Trip13	UTSW	13	74,062,651 (GRCm39)	missense	probably benign	0.04
R7159:Trip13	UTSW	13	74,068,130 (GRCm39)	missense	probably benign	0.04
R7544:Trip13	UTSW	13	74,081,021 (GRCm39)	missense	probably benign	0.00
R8488:Trip13	UTSW	13	74,081,032 (GRCm39)	missense	probably benign
R8720:Trip13	UTSW	13	74,063,590 (GRCm39)	missense	probably benign
R8881:Trip13	UTSW	13	74,077,795 (GRCm39)	missense	possibly damaging	0.70
R8915:Trip13	UTSW	13	74,081,085 (GRCm39)	missense	probably benign
R9555:Trip13	UTSW	13	74,084,252 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGTCAGGATGGGGCTTTAC -3'
(R):5'- GAGCTGAGCCTCTTCCTAATTC -3'

Sequencing Primer
(F):5'- TGGGGCTTTACATAGATGCAAAC -3'
(R):5'- CCACAAATGTATAGATGGTAGCTGTC -3'

Posted On

2020-01-23