Mutagenetix > Incidental Mutation

Incidental Mutation 'R0336:Trap1'

34149

Institutional Source

Beutler Lab

Gene Symbol

Trap1

Ensembl Gene

ENSMUSG00000005981

Gene Name

TNF receptor-associated protein 1

Synonyms

HSP75, 2410002K23Rik

MMRRC Submission

038545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0336 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3857835-3895691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3862490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 596 (V596G)

Ref Sequence

ENSEMBL: ENSMUSP00000006137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006136] [ENSMUST00000006137] [ENSMUST00000120009] [ENSMUST00000175755] [ENSMUST00000177337]

AlphaFold

Q9CQN1

Predicted Effect

probably benign
Transcript: ENSMUST00000006136

SMART Domains

Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980

Domain	Start	End	E-Value	Type
DNaseIc	6	282	5.04e-220	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000006137
AA Change: V596G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981
AA Change: V596G

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: ENSMUST00000120009

SMART Domains

Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980

Domain	Start	End	E-Value	Type
DNaseIc	6	282	5.04e-220	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144792

Predicted Effect

probably benign
Transcript: ENSMUST00000175755

SMART Domains

Protein: ENSMUSP00000135060
Gene: ENSMUSG00000005980

Domain	Start	End	E-Value	Type
SCOP:d2dnja_	1	52	3e-9	SMART
Blast:DNaseIc	1	61	2e-31	BLAST
PDB:3W3D\|B	1	61	5e-27	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000177337

SMART Domains

Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980

Domain	Start	End	E-Value	Type
DNaseIc	6	200	6.86e-67	SMART

Meta Mutation Damage Score

0.9096

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.1%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,481 (GRCm39)	I2743V	probably benign	Het
Adamts16	A	G	13: 70,939,913 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,458,998 (GRCm39)	I427V	probably benign	Het
Arhgef1	T	A	7: 24,621,382 (GRCm39)	F510I	possibly damaging	Het
B3glct	A	G	5: 149,670,057 (GRCm39)	D342G	probably damaging	Het
Bcl2a1c	G	T	9: 114,159,353 (GRCm39)	V44F	probably damaging	Het
Brca1	A	G	11: 101,414,819 (GRCm39)	V1105A	probably benign	Het
Ccn5	C	A	2: 163,674,242 (GRCm39)	A214D	probably damaging	Het
Cep135	A	G	5: 76,749,349 (GRCm39)	H272R	probably benign	Het
Coa8	T	C	12: 111,700,092 (GRCm39)		probably benign	Het
Cog1	A	C	11: 113,553,076 (GRCm39)	H365P	probably benign	Het
Col12a1	A	T	9: 79,609,627 (GRCm39)	L293Q	probably damaging	Het
Col18a1	A	G	10: 76,894,570 (GRCm39)	L1493P	probably damaging	Het
Ctsh	A	G	9: 89,957,791 (GRCm39)	Y290C	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb39	G	T	8: 19,102,985 (GRCm39)	H37N	possibly damaging	Het
Epha3	A	G	16: 63,387,011 (GRCm39)	I875T	probably damaging	Het
Fbrsl1	A	G	5: 110,595,817 (GRCm39)	S73P	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fndc1	C	T	17: 7,983,939 (GRCm39)	R1329Q	unknown	Het
Fyn	C	A	10: 39,402,897 (GRCm39)	T223K	possibly damaging	Het
Galnt6	A	T	15: 100,597,087 (GRCm39)	S360T	probably damaging	Het
Grsf1	C	A	5: 88,811,012 (GRCm39)	V336F	probably damaging	Het
Hip1	A	T	5: 135,457,467 (GRCm39)	Y720N	probably benign	Het
Hivep3	G	A	4: 119,961,044 (GRCm39)	E1700K	probably damaging	Het
Ifna6	T	C	4: 88,746,178 (GRCm39)	S176P	probably damaging	Het
Lilrb4b	T	A	10: 51,357,389 (GRCm39)	L75Q	probably benign	Het
Lrig3	C	T	10: 125,802,574 (GRCm39)	T77I	probably benign	Het
Mpped1	C	T	15: 83,720,483 (GRCm39)	P135L	probably damaging	Het
Mss51	T	A	14: 20,533,254 (GRCm39)	I406F	possibly damaging	Het
Mybpc2	T	C	7: 44,155,040 (GRCm39)	N956D	probably damaging	Het
Or4a27	T	C	2: 88,559,498 (GRCm39)	I148M	possibly damaging	Het
Podxl2	G	A	6: 88,826,577 (GRCm39)	T243I	probably benign	Het
Polr2a	C	T	11: 69,627,719 (GRCm39)	R1396Q	possibly damaging	Het
Pramel51	T	C	12: 88,144,961 (GRCm39)	I122V	probably benign	Het
Pygm	C	T	19: 6,438,788 (GRCm39)	R205W	probably damaging	Het
Rfx3	A	G	19: 27,783,662 (GRCm39)	M428T	probably benign	Het
Ric1	A	T	19: 29,565,193 (GRCm39)	T647S	probably damaging	Het
Rictor	G	A	15: 6,806,234 (GRCm39)		probably null	Het
Rnf38	A	T	4: 44,152,350 (GRCm39)		probably benign	Het
Slc6a21	T	A	7: 44,935,892 (GRCm39)	I41K	probably damaging	Het
St8sia4	T	A	1: 95,581,283 (GRCm39)	D153V	probably benign	Het
Stk33	T	C	7: 108,930,681 (GRCm39)	N226S	probably benign	Het
Strn3	A	G	12: 51,708,391 (GRCm39)		probably null	Het
Tlr6	G	T	5: 65,111,289 (GRCm39)	N539K	probably benign	Het
Tmem129	G	T	5: 33,812,946 (GRCm39)	P134Q	probably damaging	Het
Tmem94	A	G	11: 115,678,211 (GRCm39)	I145V	probably benign	Het
Tspan2	A	G	3: 102,642,343 (GRCm39)	I11V	probably null	Het
Ttc23	A	T	7: 67,312,231 (GRCm39)	H46L	probably benign	Het
Txnip	T	A	3: 96,467,295 (GRCm39)	D292E	probably benign	Het
Vmn1r121	T	A	7: 20,832,387 (GRCm39)	I18F	possibly damaging	Het
Vmn1r61	G	A	7: 5,614,066 (GRCm39)	H83Y	probably benign	Het
Vmn1r82	T	C	7: 12,039,248 (GRCm39)	S174P	probably benign	Het
Vmn2r79	A	C	7: 86,651,287 (GRCm39)	T229P	probably benign	Het
Vps13b	T	G	15: 35,455,279 (GRCm39)	Y729*	probably null	Het
Xdh	C	T	17: 74,229,458 (GRCm39)	V332M	possibly damaging	Het
Xkr5	C	A	8: 18,990,652 (GRCm39)	R205L	possibly damaging	Het
Zc3h4	T	C	7: 16,169,103 (GRCm39)	S1071P	unknown	Het
Zc3h6	A	G	2: 128,857,332 (GRCm39)	H617R	possibly damaging	Het
Zfp597	A	G	16: 3,684,243 (GRCm39)	V171A	probably benign	Het
Zfp709	T	C	8: 72,644,449 (GRCm39)	F626S	probably damaging	Het
Zfp944	C	A	17: 22,558,009 (GRCm39)	D413Y	probably damaging	Het
Zfp979	A	C	4: 147,697,592 (GRCm39)	S372R	possibly 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
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
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'- GTACACAGACTGTGGGCTTGAGAC -3'
(R):5'- CTAAAACATGTATCGAGGCCAGGGG -3'

Sequencing Primer
(F):5'- CCTTCCTATGGGGCCATACTA -3'
(R):5'- GGCAACCACAGGTGTTTTC -3'

Posted On

2013-05-09