Mutagenetix > Incidental Mutation

Incidental Mutation 'R7132:Trap1'

552772

Institutional Source

Beutler Lab

Gene Symbol

Trap1

Ensembl Gene

ENSMUSG00000005981

Gene Name

TNF receptor-associated protein 1

Synonyms

HSP75, 2410002K23Rik

MMRRC Submission

045217-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3857835-3895691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3873693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 288 (Y288H)

Ref Sequence

ENSEMBL: ENSMUSP00000006137 (fasta)

Gene Model

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

AlphaFold

Q9CQN1

Predicted Effect

probably benign
Transcript: ENSMUST00000006137
AA Change: Y288H

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981
AA Change: Y288H

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

Coding Region Coverage

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

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,825,744 (GRCm39)	A1471V		Het
Ankrd12	C	A	17: 66,290,242 (GRCm39)	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,199,478 (GRCm39)	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,619,412 (GRCm39)	Y277*	probably null	Het
App	T	C	16: 84,853,370 (GRCm39)	D236G	unknown	Het
Arid2	A	T	15: 96,247,894 (GRCm39)	K102I	possibly damaging	Het
Asl	A	G	5: 130,043,543 (GRCm39)	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cbx2	A	G	11: 118,913,947 (GRCm39)	S5G	probably benign	Het
Ccdc183	A	G	2: 25,506,542 (GRCm39)		probably null	Het
Cd72	T	C	4: 43,452,444 (GRCm39)	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,128,555 (GRCm39)	D702E	possibly damaging	Het
Cfap61	A	T	2: 145,951,870 (GRCm39)	N784I	probably damaging	Het
Cgrrf1	G	A	14: 47,091,321 (GRCm39)	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cobll1	T	G	2: 64,964,112 (GRCm39)	K170Q	probably damaging	Het
Copg2	A	T	6: 30,792,931 (GRCm39)	V468D	probably benign	Het
Cracr2b	C	T	7: 141,043,651 (GRCm39)	A84V	probably benign	Het
Cyp2f2	A	T	7: 26,831,993 (GRCm39)	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391 (GRCm39)	F75S	probably benign	Het
Eml3	G	T	19: 8,918,392 (GRCm39)	A829S	probably benign	Het
Entpd3	A	G	9: 120,390,086 (GRCm39)	T402A	probably benign	Het
Fer1l4	A	T	2: 155,887,546 (GRCm39)	V550E	probably damaging	Het
Fgb	G	A	3: 82,954,053 (GRCm39)	R62*	probably null	Het
Fubp1	T	A	3: 151,937,661 (GRCm39)		probably null	Het
Gdf3	A	C	6: 122,583,283 (GRCm39)	D361E	probably damaging	Het
Gm6685	A	T	11: 28,289,330 (GRCm39)	I162N	probably damaging	Het
Hmx2	A	G	7: 131,157,645 (GRCm39)	Y253C	probably damaging	Het
Ints2	G	T	11: 86,108,580 (GRCm39)	N922K	probably benign	Het
Ipo7	C	T	7: 109,653,254 (GRCm39)	L984F	probably benign	Het
Itgae	A	T	11: 73,002,184 (GRCm39)	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,076,597 (GRCm39)	V697A	unknown	Het
Kctd18	G	A	1: 58,006,737 (GRCm39)	R38*	probably null	Het
Kdm5b	A	G	1: 134,526,844 (GRCm39)	D322G	probably damaging	Het
Ldb3	A	G	14: 34,298,992 (GRCm39)	Y211H	probably benign	Het
Limch1	T	C	5: 67,111,028 (GRCm39)	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,721,613 (GRCm39)	L68*	probably null	Het
Lrwd1	A	G	5: 136,152,129 (GRCm39)	V616A	possibly damaging	Het
Nars1	A	G	18: 64,640,841 (GRCm39)		probably null	Het
Nradd	T	C	9: 110,451,329 (GRCm39)	D13G	probably benign	Het
Oacyl	A	T	18: 65,831,480 (GRCm39)	N39I	probably damaging	Het
Onecut2	A	T	18: 64,473,983 (GRCm39)	H178L	possibly damaging	Het
Or9i14	T	A	19: 13,792,786 (GRCm39)	Q56L	probably benign	Het
Pcdhga4	A	C	18: 37,820,430 (GRCm39)	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,942,102 (GRCm39)	I902F	possibly damaging	Het
Plod3	T	C	5: 137,023,971 (GRCm39)	L180S		Het
Prrc2c	A	T	1: 162,508,850 (GRCm39)	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,361,225 (GRCm39)	E58G	probably benign	Het
Rev1	G	T	1: 38,110,530 (GRCm39)	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,605,963 (GRCm39)	L696*	probably null	Het
Serpinb3c	A	G	1: 107,204,681 (GRCm39)	S22P	probably damaging	Het
St18	A	T	1: 6,929,351 (GRCm39)	H81L		Het
Stard9	A	T	2: 120,509,859 (GRCm39)	K266*	probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,612,351 (GRCm39)	T381I	probably benign	Het
Tecpr2	T	A	12: 110,881,806 (GRCm39)	V125D	probably damaging	Het
Tmc2	T	C	2: 130,074,329 (GRCm39)	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,787,224 (GRCm39)	V143I	probably benign	Het
Trim39	T	C	17: 36,571,547 (GRCm39)	T404A	probably benign	Het
Ttn	T	A	2: 76,576,043 (GRCm39)	K24950I	probably damaging	Het
Ttn	G	T	2: 76,774,696 (GRCm39)	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757 (GRCm39)	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,778,536 (GRCm39)	I471N	probably damaging	Het
Wbp11	T	C	6: 136,798,540 (GRCm39)	T170A	probably benign	Het
Wnk4	A	G	11: 101,152,026 (GRCm39)	I177V	probably benign	Het
Zfp455	C	A	13: 67,347,230 (GRCm39)	P51T	probably damaging	Het
Zfp946	T	C	17: 22,673,644 (GRCm39)	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,460,589 (GRCm39)	Y514*	probably null	Het
Zzef1	T	C	11: 72,808,697 (GRCm39)		probably null	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
R5261:Trap1	UTSW	16	3,874,286 (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
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'- GACTATGCCTGATACAATGTAACTC -3'
(R):5'- AGCTCTTCTGGCACTAGGTG -3'

Sequencing Primer
(F):5'- CTGTGGAGATACACCTGGCTATAC -3'
(R):5'- CACTAGGTGGTATCGTATTTCCATG -3'

Posted On

2019-05-15