Mutagenetix > Incidental Mutation

Incidental Mutation 'R6022:Tram2'

478975

Institutional Source

Beutler Lab

Gene Symbol

Tram2

Ensembl Gene

ENSMUSG00000041779

Gene Name

translocating chain-associating membrane protein 2

Synonyms

C330003D03Rik

MMRRC Submission

043256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6022 (G1)

Quality Score

167.009

Status

Not validated

Chromosome

Chromosomal Location

21071621-21149449 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 21149361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037998]

AlphaFold

Q924Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000037998

SMART Domains

Protein: ENSMUSP00000047992
Gene: ENSMUSG00000041779

Domain	Start	End	E-Value	Type
Pfam:TRAM1	46	110	1.3e-22	PFAM
TLC	112	321	4.2e-60	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186612

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,240,759 (GRCm39)	F874C	probably damaging	Het
Adam9	T	C	8: 25,493,321 (GRCm39)	T96A	possibly damaging	Het
Arhgef26	C	T	3: 62,336,360 (GRCm39)	T633M	probably damaging	Het
Atxn2l	A	G	7: 126,095,607 (GRCm39)		probably null	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Caskin1	T	A	17: 24,715,709 (GRCm39)	F158I	probably benign	Het
Ces1g	T	A	8: 94,055,085 (GRCm39)	N204I	probably damaging	Het
Chd1	A	G	17: 17,598,035 (GRCm39)	I41V	probably benign	Het
Crybg2	A	T	4: 133,801,584 (GRCm39)	K915*	probably null	Het
Dock4	T	C	12: 40,798,109 (GRCm39)	V911A	probably benign	Het
Dok5	A	G	2: 170,721,142 (GRCm39)	Y302C	probably damaging	Het
Dpysl4	A	T	7: 138,666,000 (GRCm39)		probably benign	Het
Dsc3	A	C	18: 20,099,395 (GRCm39)	V707G	probably damaging	Het
Endog	A	G	2: 30,062,921 (GRCm39)	Y187C	possibly damaging	Het
Fcrl5	A	G	3: 87,363,070 (GRCm39)	T526A	probably benign	Het
Gcat	T	C	15: 78,926,478 (GRCm39)	V116A	probably damaging	Het
Herc1	A	G	9: 66,390,967 (GRCm39)	D3975G	probably damaging	Het
Jmy	G	T	13: 93,590,086 (GRCm39)		probably null	Het
Kif1b	T	C	4: 149,282,989 (GRCm39)	I1273V	probably benign	Het
Lrriq1	G	T	10: 103,051,395 (GRCm39)	N452K	possibly damaging	Het
Lrrn3	T	C	12: 41,503,429 (GRCm39)	E296G	probably damaging	Het
Marco	G	A	1: 120,416,294 (GRCm39)	L208F	probably benign	Het
Mme	T	A	3: 63,272,218 (GRCm39)	W606R	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Phc3	A	G	3: 30,984,174 (GRCm39)	S647P	probably damaging	Het
Prx	A	G	7: 27,216,998 (GRCm39)	K500E	probably damaging	Het
Ptpn22	T	A	3: 103,793,421 (GRCm39)	V524E	probably benign	Het
Ptprj	A	T	2: 90,301,667 (GRCm39)	I155K	probably benign	Het
Rad51ap2	A	G	12: 11,508,523 (GRCm39)	E815G	probably damaging	Het
Rnf150	T	C	8: 83,769,358 (GRCm39)	V381A	probably benign	Het
Rnf213	A	G	11: 119,376,836 (GRCm39)	K5103R	probably benign	Het
Speer4a2	T	G	5: 26,289,677 (GRCm39)	E250A	probably benign	Het
Tecpr1	A	T	5: 144,136,009 (GRCm39)	W961R	possibly damaging	Het
Tnn	A	T	1: 159,937,928 (GRCm39)	D932E	probably benign	Het
Trbv26	T	A	6: 41,204,509 (GRCm39)		probably benign	Het
Trmt11	A	G	10: 30,463,497 (GRCm39)	I206T	possibly damaging	Het
Ttk	T	C	9: 83,721,375 (GRCm39)	Y87H	probably damaging	Het
Uri1	A	T	7: 37,660,902 (GRCm39)		probably benign	Het
Vmn1r173	A	G	7: 23,402,260 (GRCm39)	D165G	probably benign	Het
Xpc	A	G	6: 91,476,618 (GRCm39)	S494P	probably damaging	Het
Zfp438	T	A	18: 5,213,419 (GRCm39)	N513I	probably damaging	Het

Other mutations in Tram2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01860:Tram2	APN	1	21,074,083 (GRCm39)	missense	possibly damaging	0.90
R0057:Tram2	UTSW	1	21,076,378 (GRCm39)	missense	probably damaging	0.98
R0299:Tram2	UTSW	1	21,074,468 (GRCm39)	missense	probably damaging	0.99
R1633:Tram2	UTSW	1	21,074,146 (GRCm39)	missense	probably damaging	0.99
R1703:Tram2	UTSW	1	21,074,458 (GRCm39)	missense	probably damaging	0.96
R2032:Tram2	UTSW	1	21,074,180 (GRCm39)	missense	probably null	0.98
R3690:Tram2	UTSW	1	21,075,824 (GRCm39)	missense	probably damaging	1.00
R3859:Tram2	UTSW	1	21,074,204 (GRCm39)	missense	probably damaging	1.00
R4583:Tram2	UTSW	1	21,083,673 (GRCm39)	missense	probably benign	0.01
R6432:Tram2	UTSW	1	21,074,457 (GRCm39)	missense	possibly damaging	0.63
R8209:Tram2	UTSW	1	21,075,801 (GRCm39)	missense	probably damaging	1.00
R8972:Tram2	UTSW	1	21,074,273 (GRCm39)	intron	probably benign
R9438:Tram2	UTSW	1	21,075,834 (GRCm39)	missense	possibly damaging	0.58
R9510:Tram2	UTSW	1	21,074,150 (GRCm39)	missense	possibly damaging	0.88
X0058:Tram2	UTSW	1	21,149,327 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26