Mutagenetix > Incidental Mutation

Incidental Mutation 'R5261:Trap1'

401465

Institutional Source

Beutler Lab

Gene Symbol

Trap1

Ensembl Gene

ENSMUSG00000005981

Gene Name

TNF receptor-associated protein 1

Synonyms

HSP75, 2410002K23Rik

MMRRC Submission

042830-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3857835-3895691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3874286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 243 (I243N)

Ref Sequence

ENSEMBL: ENSMUSP00000006137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006137]

AlphaFold

Q9CQN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000006137
AA Change: I243N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981
AA Change: I243N

Domain	Start	End	E-Value	Type
HATPase_c	110	263	3.68e-3	SMART
Pfam:HSP90	290	706	2.6e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175521

Meta Mutation Damage Score

0.9057

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

96% (64/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced body weight; liver and spleen hyperplasia; decreased chronic inflammation and tumor incidents; deregulated mitochondrial respiration; and increased oxidative stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	C	G	2: 152,282,777 (GRCm39)	P211A	probably damaging	Het
Ambra1	G	A	2: 91,715,951 (GRCm39)	V761M	probably damaging	Het
Amfr	T	A	8: 94,702,798 (GRCm39)		probably null	Het
Asphd1	C	A	7: 126,545,287 (GRCm39)	A357S	probably benign	Het
Brd3	C	A	2: 27,353,931 (GRCm39)	Q60H	probably damaging	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cep152	T	A	2: 125,406,125 (GRCm39)	H1469L	probably benign	Het
Coro1a	G	T	7: 126,299,816 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,171,555 (GRCm39)	L871Q	probably benign	Het
Depdc5	C	T	5: 33,095,635 (GRCm39)	P824L	probably damaging	Het
Enpep	T	G	3: 129,099,075 (GRCm39)	D467A	probably damaging	Het
Extl2	G	A	3: 115,821,013 (GRCm39)	A273T	probably benign	Het
Foxi3	T	A	6: 70,937,500 (GRCm39)	F218Y	probably damaging	Het
Golga2	A	G	2: 32,194,166 (GRCm39)	M521V	probably benign	Het
Gpr142	T	A	11: 114,695,168 (GRCm39)	N44K	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,061 (GRCm39)	I440V	probably benign	Het
Gucy1b2	T	A	14: 62,642,028 (GRCm39)	K698I	probably damaging	Het
Hspa1b	T	C	17: 35,177,983 (GRCm39)	M1V	probably null	Het
Ints9	T	A	14: 65,245,521 (GRCm39)	Y260N	probably benign	Het
Khdc3	T	G	9: 73,010,768 (GRCm39)	V182G	possibly damaging	Het
Ky	A	G	9: 102,414,798 (GRCm39)		probably null	Het
Map2k1	T	A	9: 64,098,843 (GRCm39)	I263F	probably damaging	Het
Or13a18	A	C	7: 140,190,576 (GRCm39)	I166L	probably benign	Het
Or2t47	T	C	11: 58,442,877 (GRCm39)	S63G	probably benign	Het
Or5ak25	A	G	2: 85,269,241 (GRCm39)	V87A	probably benign	Het
Otogl	T	A	10: 107,613,453 (GRCm39)	H2004L	probably benign	Het
Palmd	T	C	3: 116,717,009 (GRCm39)	H496R	probably benign	Het
Papolb	C	G	5: 142,515,409 (GRCm39)	R78P	possibly damaging	Het
Pcdh10	G	A	3: 45,336,247 (GRCm39)	G854R	probably damaging	Het
Pdcd11	A	G	19: 47,101,976 (GRCm39)	I1054V	probably benign	Het
Pik3ap1	A	T	19: 41,364,545 (GRCm39)	L58Q	probably damaging	Het
Ppp2ca	A	G	11: 51,989,937 (GRCm39)	K21R	probably benign	Het
Prmt5	A	C	14: 54,745,373 (GRCm39)	I598S	probably damaging	Het
Pycr1	T	A	11: 120,532,050 (GRCm39)	I239F	probably damaging	Het
R3hdm2	C	T	10: 127,334,285 (GRCm39)	R896C	probably damaging	Het
Rev3l	C	T	10: 39,722,725 (GRCm39)	P699S	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Sel1l	A	T	12: 91,791,658 (GRCm39)	M351K	possibly damaging	Het
Sesn2	A	G	4: 132,226,617 (GRCm39)	L159P	probably damaging	Het
Slc35f4	T	A	14: 49,540,946 (GRCm39)		probably benign	Het
Slc3a1	C	A	17: 85,359,403 (GRCm39)	N409K	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slco1c1	T	C	6: 141,492,502 (GRCm39)	F246S	probably damaging	Het
Socs2	T	G	10: 95,228,681 (GRCm39)	I190L	unknown	Het
Srsf1	T	A	11: 87,938,684 (GRCm39)	I7N	possibly damaging	Het
Stox1	T	A	10: 62,503,620 (GRCm39)	H145L	probably damaging	Het
Trav7-3	T	C	14: 53,681,207 (GRCm39)	I83T	probably benign	Het
Trmt9b	T	C	8: 36,979,078 (GRCm39)	I227T	probably benign	Het
Tuft1	A	T	3: 94,546,712 (GRCm39)	I42K	possibly damaging	Het
Umps	A	G	16: 33,787,344 (GRCm39)	V3A	probably benign	Het
Vim	A	C	2: 13,579,643 (GRCm39)	E134A	probably null	Het
Vmn1r28	C	A	6: 58,242,524 (GRCm39)	H122Q	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vsig10l	T	A	7: 43,120,274 (GRCm39)	V760D	probably damaging	Het
Xrn1	A	G	9: 95,927,596 (GRCm39)	D1460G	probably benign	Het
Zfp282	A	G	6: 47,874,824 (GRCm39)	D343G	probably damaging	Het
Zfp35	A	G	18: 24,136,778 (GRCm39)	H374R	probably damaging	Het

Other mutations in Trap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Trap1	APN	16	3,861,842 (GRCm39)	nonsense	probably null
IGL03087:Trap1	APN	16	3,862,565 (GRCm39)	splice site	probably null
gloria	UTSW	16	3,863,903 (GRCm39)	nonsense	probably null
mundi	UTSW	16	3,883,131 (GRCm39)	missense	probably benign	0.00
E0354:Trap1	UTSW	16	3,883,152 (GRCm39)	missense	probably benign	0.01
R0034:Trap1	UTSW	16	3,886,894 (GRCm39)	splice site	probably benign
R0034:Trap1	UTSW	16	3,886,894 (GRCm39)	splice site	probably benign
R0316:Trap1	UTSW	16	3,863,424 (GRCm39)	missense	probably benign
R0336:Trap1	UTSW	16	3,862,490 (GRCm39)	missense	probably damaging	0.99
R0614:Trap1	UTSW	16	3,878,615 (GRCm39)	splice site	probably benign
R2069:Trap1	UTSW	16	3,886,200 (GRCm39)	missense	probably benign
R2089:Trap1	UTSW	16	3,863,903 (GRCm39)	nonsense	probably null
R2091:Trap1	UTSW	16	3,863,903 (GRCm39)	nonsense	probably null
R2091:Trap1	UTSW	16	3,863,903 (GRCm39)	nonsense	probably null
R2148:Trap1	UTSW	16	3,878,624 (GRCm39)	missense	probably damaging	0.97
R2419:Trap1	UTSW	16	3,886,194 (GRCm39)	missense	probably benign	0.23
R3853:Trap1	UTSW	16	3,872,686 (GRCm39)	missense	possibly damaging	0.69
R4926:Trap1	UTSW	16	3,863,352 (GRCm39)	missense	probably benign	0.27
R5120:Trap1	UTSW	16	3,861,952 (GRCm39)	missense	probably damaging	1.00
R5434:Trap1	UTSW	16	3,862,529 (GRCm39)	missense	probably benign	0.00
R6194:Trap1	UTSW	16	3,872,664 (GRCm39)	missense	possibly damaging	0.94
R6284:Trap1	UTSW	16	3,878,673 (GRCm39)	missense	probably benign	0.07
R6415:Trap1	UTSW	16	3,861,856 (GRCm39)	missense	possibly damaging	0.92
R7132:Trap1	UTSW	16	3,873,693 (GRCm39)	missense	probably benign	0.17
R7167:Trap1	UTSW	16	3,870,792 (GRCm39)	missense	probably damaging	1.00
R8968:Trap1	UTSW	16	3,862,490 (GRCm39)	missense	possibly damaging	0.65
R9438:Trap1	UTSW	16	3,883,131 (GRCm39)	missense	probably benign	0.00
R9596:Trap1	UTSW	16	3,871,374 (GRCm39)	missense	probably damaging	1.00
R9620:Trap1	UTSW	16	3,858,083 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACAGATATGGCAGTTGAGTGG -3'
(R):5'- TCTGCCAGAGTCAGAAGCTAC -3'

Sequencing Primer
(F):5'- GGGGGCTGAGTTCTCTCC -3'
(R):5'- GAATCCAGTGTGCAACTTAGC -3'

Posted On

2016-07-06