Mutagenetix > Incidental Mutation

Incidental Mutation 'R2419:Trap1'

249170

Institutional Source

Beutler Lab

Gene Symbol

Trap1

Ensembl Gene

ENSMUSG00000005981

Gene Name

TNF receptor-associated protein 1

Synonyms

HSP75, 2410002K23Rik

MMRRC Submission

040381-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3857835-3895691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3886194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 88 (S88P)

Ref Sequence

ENSEMBL: ENSMUSP00000006137 (fasta)

Gene Model

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

AlphaFold

Q9CQN1

Predicted Effect

probably benign
Transcript: ENSMUST00000006137
AA Change: S88P

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981
AA Change: S88P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138594

Predicted Effect

silent
Transcript: ENSMUST00000150354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230558

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acyp2	T	C	11: 30,582,316 (GRCm39)	Y33C	probably benign	Het
Ampd3	A	G	7: 110,367,576 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Arl4d	A	T	11: 101,557,714 (GRCm39)	Q80L	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Ccdc38	T	A	10: 93,384,837 (GRCm39)	V35D	probably benign	Het
Cd6	G	A	19: 10,770,216 (GRCm39)	P492S	probably damaging	Het
Cdh20	G	A	1: 104,902,740 (GRCm39)	S477N	possibly damaging	Het
Cnmd	G	A	14: 79,875,488 (GRCm39)	P311S	probably damaging	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Dusp18	T	C	11: 3,847,018 (GRCm39)	S3P	possibly damaging	Het
Eml2	A	G	7: 18,910,620 (GRCm39)		probably benign	Het
Foxb2	G	C	19: 16,850,325 (GRCm39)	A227G	probably damaging	Het
Hey1	A	G	3: 8,731,003 (GRCm39)		probably null	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kcna2	G	A	3: 107,011,469 (GRCm39)	G17R	probably benign	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Leng9	A	G	7: 4,151,626 (GRCm39)	V350A	probably benign	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Lrat	A	G	3: 82,810,992 (GRCm39)	S10P	probably damaging	Het
Lrrk2	C	A	15: 91,681,729 (GRCm39)		probably benign	Het
Mcur1	C	T	13: 43,703,013 (GRCm39)	V241M	possibly damaging	Het
Met	T	C	6: 17,535,829 (GRCm39)		probably benign	Het
Mical3	A	G	6: 120,936,884 (GRCm39)	V342A	probably benign	Het
Nup210	G	A	6: 90,994,538 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,448,221 (GRCm39)	I85F	probably benign	Het
Or1j12	T	A	2: 36,343,338 (GRCm39)	V247E	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Phc3	T	C	3: 31,005,027 (GRCm39)	M189V	probably damaging	Het
Plcb1	A	G	2: 135,104,020 (GRCm39)		probably benign	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Rbbp5	T	C	1: 132,421,564 (GRCm39)	I88T	possibly damaging	Het
Rfpl4b	T	C	10: 38,697,368 (GRCm39)	R78G	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,453,677 (GRCm39)	H37R	possibly damaging	Het
Setd2	T	A	9: 110,378,065 (GRCm39)	F627I	possibly damaging	Het
Ski	A	G	4: 155,245,350 (GRCm39)	S293P	probably benign	Het
Slc27a1	A	G	8: 72,032,560 (GRCm39)	E191G	possibly damaging	Het
Snx18	T	C	13: 113,753,755 (GRCm39)	M393V	possibly damaging	Het
Spata31g1	A	G	4: 42,974,146 (GRCm39)	T1160A	possibly damaging	Het
Tacc1	A	G	8: 25,672,829 (GRCm39)	V42A	possibly damaging	Het
Tbc1d8	A	G	1: 39,415,983 (GRCm39)	F897L	probably damaging	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem62	G	A	2: 120,837,586 (GRCm39)	G501E	probably damaging	Het
Tmem94	A	G	11: 115,687,641 (GRCm39)	K1167E	probably damaging	Het
Ugt2b38	T	C	5: 87,571,591 (GRCm39)	D147G	probably damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	Het
Zcchc14	T	A	8: 122,330,675 (GRCm39)	Q896L	probably damaging	Het
Zfp619	A	G	7: 39,185,307 (GRCm39)	K446E	possibly damaging	Het
Zpr1	T	C	9: 46,187,490 (GRCm39)		probably benign	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
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
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'- GCCTGGATGAGCACAATTCC -3'
(R):5'- GATATCCCACACCCCTCTATGG -3'

Sequencing Primer
(F):5'- GGATGAGCACAATTCCTCTTAACAG -3'
(R):5'- CCCTCTATGGCTGCAGAGTTG -3'

Posted On

2014-11-12