Mutagenetix > Incidental Mutation

Incidental Mutation 'R8915:Trip13'

678894

Institutional Source

Beutler Lab

Gene Symbol

Trip13

Ensembl Gene

ENSMUSG00000021569

Gene Name

thyroid hormone receptor interactor 13

Synonyms

D13Ertd328e, 2410002G23Rik

MMRRC Submission

068703-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R8915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74060577-74085855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74081085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000022053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022053] [ENSMUST00000099384] [ENSMUST00000222399]

AlphaFold

Q3UA06

Predicted Effect

probably benign
Transcript: ENSMUST00000022053
AA Change: T94A

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

SMART Domains

Protein: ENSMUSP00000022053
Gene: ENSMUSG00000021569
AA Change: T94A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099384

SMART Domains

Protein: ENSMUSP00000096982
Gene: ENSMUSG00000057649

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
coiled coil region	53	104	N/A	INTRINSIC
low complexity region	116	127	N/A	INTRINSIC
BROMO	134	242	1.52e-30	SMART
low complexity region	249	264	N/A	INTRINSIC
Pfam:DUF3512	274	505	1.6e-82	PFAM
low complexity region	544	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222399

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (48/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	T	A	7: 43,903,751 (GRCm39)	H217L	possibly damaging	Het
Adgrv1	C	T	13: 81,715,558 (GRCm39)	V877I	probably damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Asxl3	T	A	18: 22,657,763 (GRCm39)	D1924E	probably benign	Het
Bmp4	T	A	14: 46,621,902 (GRCm39)	E214V	probably damaging	Het
Calhm5	T	C	10: 33,968,415 (GRCm39)	S213G	probably benign	Het
Carmil1	A	G	13: 24,325,709 (GRCm39)	L207P	probably damaging	Het
Cdh24	T	C	14: 54,876,612 (GRCm39)	D71G	probably damaging	Het
Cdhr2	G	T	13: 54,874,184 (GRCm39)	W752L	probably benign	Het
Clec1b	T	C	6: 129,382,212 (GRCm39)	*230Q	probably null	Het
Ctbs	T	C	3: 146,169,724 (GRCm39)	V327A	probably benign	Het
Cyp2c40	A	T	19: 39,795,991 (GRCm39)	I129N	probably benign	Het
Dnajc10	T	A	2: 80,147,801 (GRCm39)	L21H	possibly damaging	Het
Dysf	A	G	6: 84,156,736 (GRCm39)	D1487G	probably benign	Het
Epb42	T	C	2: 120,849,987 (GRCm39)	Q674R	possibly damaging	Het
Foxb2	T	C	19: 16,850,958 (GRCm39)	Y16C	unknown	Het
Fto	T	C	8: 92,136,471 (GRCm39)		probably null	Het
Gcfc2	A	G	6: 81,918,347 (GRCm39)	K346E	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,077,312 (GRCm39)	S160P	probably benign	Het
Has2	C	T	15: 56,531,885 (GRCm39)	V277I	probably damaging	Het
Herc1	T	C	9: 66,318,456 (GRCm39)	Y1243H	probably damaging	Het
Hhat	C	T	1: 192,277,203 (GRCm39)	E419K	probably benign	Het
Hsd17b11	T	C	5: 104,140,802 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Lactbl1	G	T	4: 136,360,243 (GRCm39)	A141S	probably benign	Het
Ncoa5	T	C	2: 164,854,927 (GRCm39)	D65G	possibly damaging	Het
Nfkbie	A	G	17: 45,871,067 (GRCm39)	I240V	probably benign	Het
Nim1k	T	A	13: 120,173,874 (GRCm39)	D340V	probably benign	Het
Oas2	T	C	5: 120,876,449 (GRCm39)	K498R	possibly damaging	Het
Or52e2	C	T	7: 102,804,411 (GRCm39)	C181Y	probably damaging	Het
Pard6g	T	C	18: 80,160,957 (GRCm39)	S357P	probably damaging	Het
Pigk	G	A	3: 152,472,098 (GRCm39)	E384K	probably benign	Het
Ppp4r1	T	C	17: 66,136,376 (GRCm39)	V528A	probably damaging	Het
Rbm34	A	G	8: 127,679,908 (GRCm39)		probably benign	Het
Rnd1	A	G	15: 98,575,181 (GRCm39)	V17A	probably damaging	Het
Ros1	C	T	10: 51,977,805 (GRCm39)		probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Scin	T	C	12: 40,123,432 (GRCm39)	S484G	probably damaging	Het
Scn11a	C	T	9: 119,603,363 (GRCm39)	W1101*	probably null	Het
Scrn3	T	A	2: 73,148,636 (GRCm39)	V69D	probably damaging	Het
Serpina3j	A	G	12: 104,281,309 (GRCm39)	T161A	probably benign	Het
Sh3bp4	C	A	1: 89,080,064 (GRCm39)	A873D	probably damaging	Het
Tmem131	A	T	1: 36,868,658 (GRCm39)	I389N	probably damaging	Het
Tpp2	T	C	1: 44,016,415 (GRCm39)	L690P	probably damaging	Het
Vmn1r114	A	T	7: 20,545,171 (GRCm39)	L314*	probably null	Het
Vmn2r44	A	G	7: 8,370,650 (GRCm39)	Y799H	probably damaging	Het
Zfp574	T	C	7: 24,780,769 (GRCm39)	L597P	probably damaging	Het
Zfp944	A	T	17: 22,558,507 (GRCm39)	C247S	probably benign	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
R8035:Trip13	UTSW	13	74,061,373 (GRCm39)	missense	probably benign
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
R9555:Trip13	UTSW	13	74,084,252 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTCTCATTAAGTGACATGGAATACCCC -3'
(R):5'- TCCTTCAGTCTCAGCTCTGAAG -3'

Sequencing Primer
(F):5'- GGAATACCCCAGCTGTGTCTTAAG -3'
(R):5'- AGCTCTGAAGTTTGTCTCTGTAAC -3'

Posted On

2021-08-02