Mutagenetix > Incidental Mutation

Incidental Mutation 'R9596:Trap1'

723303

Institutional Source

Beutler Lab

Gene Symbol

Trap1

Ensembl Gene

ENSMUSG00000005981

Gene Name

TNF receptor-associated protein 1

Synonyms

HSP75, 2410002K23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9596 (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 T at 3871374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 381 (I381N)

Ref Sequence

ENSEMBL: ENSMUSP00000006137 (fasta)

Gene Model

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

AlphaFold

Q9CQN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000006137
AA Change: I381N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981
AA Change: I381N

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: 99.9%
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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	G	T	1: 74,320,262 (GRCm39)	Q355K	probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
AI661453	T	C	17: 47,780,411 (GRCm39)	S188P	unknown	Het
Atp10a	A	G	7: 58,477,553 (GRCm39)	S1251G	probably damaging	Het
Ccr10	A	G	11: 101,065,018 (GRCm39)	F171L	probably benign	Het
Clec10a	A	T	11: 70,059,973 (GRCm39)	D65V	probably damaging	Het
Clybl	A	T	14: 122,548,768 (GRCm39)	I57L	probably benign	Het
Col5a1	G	T	2: 27,819,551 (GRCm39)	E218*	probably null	Het
Diaph1	G	A	18: 38,024,111 (GRCm39)	P576S	unknown	Het
Dsg1c	T	A	18: 20,416,361 (GRCm39)	I754N	probably benign	Het
Fam47e	G	C	5: 92,726,395 (GRCm39)	R111P	probably benign	Het
Fastkd3	G	A	13: 68,735,806 (GRCm39)	V519M	probably damaging	Het
Fhod3	T	A	18: 25,193,392 (GRCm39)	Y634*	probably null	Het
Frem3	G	A	8: 81,341,951 (GRCm39)	V1415I	probably benign	Het
Herc2	G	A	7: 55,834,595 (GRCm39)	S3191N		Het
Kif19a	A	T	11: 114,676,752 (GRCm39)	E527V	probably benign	Het
Lmbr1	C	A	5: 29,440,105 (GRCm39)	G420*	probably null	Het
Map3k9	A	G	12: 81,777,404 (GRCm39)	S526P	probably damaging	Het
Mink1	T	A	11: 70,497,915 (GRCm39)	L506Q	possibly damaging	Het
Mroh9	T	C	1: 162,893,576 (GRCm39)	I200V	probably damaging	Het
Mrps14	T	C	1: 160,027,122 (GRCm39)	V110A	possibly damaging	Het
Mta1	A	G	12: 113,090,470 (GRCm39)	Q209R	probably damaging	Het
Mtss2	G	A	8: 111,458,689 (GRCm39)	S195N		Het
Nlgn1	T	A	3: 25,488,587 (GRCm39)	I583F	probably damaging	Het
Ntng1	T	C	3: 110,042,956 (GRCm39)		probably benign	Het
Or10w1	A	G	19: 13,632,002 (GRCm39)	S70G	probably damaging	Het
Or1p1c	C	T	11: 74,160,289 (GRCm39)	H25Y	probably benign	Het
Or2ag13	A	T	7: 106,313,412 (GRCm39)	Y159N	probably benign	Het
Or5ac25	A	G	16: 59,181,942 (GRCm39)	I213T	possibly damaging	Het
Or6c65	A	G	10: 129,603,988 (GRCm39)	T208A	probably damaging	Het
Pcdha12	A	T	18: 37,154,302 (GRCm39)	L340F	probably benign	Het
Pdk4	T	A	6: 5,491,842 (GRCm39)	M173L	probably benign	Het
Pds5a	A	G	5: 65,772,830 (GRCm39)	S1258P	probably benign	Het
Plcd1	A	T	9: 118,917,183 (GRCm39)	L22Q	probably benign	Het
Prag1	A	G	8: 36,570,113 (GRCm39)	D232G	probably damaging	Het
Rest	C	T	5: 77,423,141 (GRCm39)	T315M	probably damaging	Het
Scrn2	G	A	11: 96,923,907 (GRCm39)	V264M	probably damaging	Het
Sipa1l3	C	A	7: 29,031,691 (GRCm39)	V1513F	probably benign	Het
Skic3	T	C	13: 76,330,968 (GRCm39)	V1466A	possibly damaging	Het
Slc44a1	T	A	4: 53,544,553 (GRCm39)	N421K	probably benign	Het
Smc6	G	T	12: 11,345,045 (GRCm39)	R662I	probably damaging	Het
Spata31e5	C	A	1: 28,815,688 (GRCm39)	M781I	probably benign	Het
Srcap	T	A	7: 127,131,036 (GRCm39)	W751R	probably damaging	Het
Sv2b	A	G	7: 74,767,462 (GRCm39)	F645L	probably damaging	Het
Sycp2	A	G	2: 177,990,212 (GRCm39)		probably null	Het
Syne4	A	G	7: 30,014,504 (GRCm39)	T41A	probably benign	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Tshz1	A	G	18: 84,031,904 (GRCm39)	S835P	possibly damaging	Het
Ube3b	T	A	5: 114,527,171 (GRCm39)	W130R	probably damaging	Het
Ubr5	G	A	15: 37,986,213 (GRCm39)	T2207I		Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r11	T	G	5: 109,201,563 (GRCm39)	I314L	possibly damaging	Het
Vmn2r15	T	A	5: 109,440,791 (GRCm39)	I356L	probably benign	Het
Vmn2r31	G	T	7: 7,397,292 (GRCm39)	T322N	probably benign	Het
Vmn2r8	A	T	5: 108,947,196 (GRCm39)	F519I	possibly damaging	Het
Wdr35	T	C	12: 9,036,092 (GRCm39)	F288L	probably benign	Het
Xab2	A	T	8: 3,663,018 (GRCm39)	V521D	probably damaging	Het
Zfp639	T	C	3: 32,574,269 (GRCm39)	F298S	probably damaging	Het
Zfp786	G	A	6: 47,797,406 (GRCm39)	R511*	probably null	Het
Zfp936	T	A	7: 42,839,834 (GRCm39)	C434S	probably damaging	Het
Zranb1	T	C	7: 132,552,146 (GRCm39)	F266L	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
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
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
R9620:Trap1	UTSW	16	3,858,083 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAAAGAACTCCTTGCCTGTCC -3'
(R):5'- AACACGGGAGGAGTTGTGTC -3'

Sequencing Primer
(F):5'- CTTGCCTGTCCTGCTGGG -3'
(R):5'- TGGGGCTCATCATCCATGC -3'

Posted On

2022-08-09