Mutagenetix > Incidental Mutation

Incidental Mutation 'R5793:Tmx2'

501520

Institutional Source

Beutler Lab

Gene Symbol

Tmx2

Ensembl Gene

ENSMUSG00000050043

Gene Name

thioredoxin-related transmembrane protein 2

Synonyms

2310042M24Rik, Txndc14

MMRRC Submission

043208-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5793 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84501655-84509172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84506501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 64 (R64G)

Ref Sequence

ENSEMBL: ENSMUSP00000107294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053664] [ENSMUST00000102645] [ENSMUST00000111664] [ENSMUST00000111665] [ENSMUST00000152149] [ENSMUST00000189772]

AlphaFold

Q9D710

Predicted Effect

probably damaging
Transcript: ENSMUST00000053664
AA Change: R64G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059582
Gene: ENSMUSG00000050043
AA Change: R64G

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
Pfam:Thioredoxin	137	243	3.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102645

SMART Domains

Protein: ENSMUSP00000099705
Gene: ENSMUSG00000027080

Domain	Start	End	E-Value	Type
low complexity region	24	55	N/A	INTRINSIC
Pfam:Med19	63	234	4e-87	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111664
AA Change: R64G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107293
Gene: ENSMUSG00000050043
AA Change: R64G

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
Pfam:Thioredoxin	99	205	1.6e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111665
AA Change: R64G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107294
Gene: ENSMUSG00000050043
AA Change: R64G

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
Pfam:Thioredoxin	137	243	3.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138529

Predicted Effect

probably damaging
Transcript: ENSMUST00000152149
AA Change: R64G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115745
Gene: ENSMUSG00000050043
AA Change: R64G

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189772

SMART Domains

Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12	C	A	11: 70,133,879 (GRCm39)	R522L	probably benign	Het
Arfgef1	A	T	1: 10,279,753 (GRCm39)	D271E	probably benign	Het
Arg1	C	T	10: 24,796,540 (GRCm39)	V96M	probably benign	Het
Axin1	T	C	17: 26,362,282 (GRCm39)	S209P	probably damaging	Het
B4galnt3	A	G	6: 120,185,865 (GRCm39)		probably null	Het
Cdh23	T	A	10: 60,141,907 (GRCm39)	D3058V	probably damaging	Het
Chd9	A	G	8: 91,728,384 (GRCm39)	T794A	probably damaging	Het
Ckap5	C	T	2: 91,450,180 (GRCm39)	T1891I	possibly damaging	Het
Cspg4b	G	T	13: 113,457,556 (GRCm39)	V1201L	possibly damaging	Het
Dzank1	T	C	2: 144,348,144 (GRCm39)	I207M	probably benign	Het
Fkbp9	G	A	6: 56,850,498 (GRCm39)		probably null	Het
Gm4781	T	A	10: 100,232,529 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtpbp6	G	A	5: 110,255,094 (GRCm39)	L33F	probably benign	Het
Hsd11b1	A	C	1: 192,924,492 (GRCm39)	F27V	probably damaging	Het
Ift172	A	T	5: 31,434,292 (GRCm39)	I482N	possibly damaging	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Ly6g2	T	C	15: 75,093,493 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,653,077 (GRCm39)	Q1420R	probably benign	Het
Ncam2	G	A	16: 81,372,991 (GRCm39)	V569I	possibly damaging	Het
Nsd1	T	C	13: 55,395,819 (GRCm39)	V1140A	probably benign	Het
Ogdhl	T	A	14: 32,054,730 (GRCm39)	L226Q	probably damaging	Het
Or51a24	T	C	7: 103,734,237 (GRCm39)	T17A	probably benign	Het
Orc2	T	C	1: 58,536,547 (GRCm39)	M1V	probably null	Het
Padi2	T	C	4: 140,660,501 (GRCm39)	L327P	probably benign	Het
Palb2	T	C	7: 121,726,860 (GRCm39)	N337D	probably benign	Het
Pard3b	A	T	1: 61,807,132 (GRCm39)	H49L	probably damaging	Het
Pigz	T	C	16: 31,764,285 (GRCm39)	S448P	probably benign	Het
Ppfia4	A	G	1: 134,239,844 (GRCm39)	V911A	probably damaging	Het
Prr5	T	A	15: 84,656,223 (GRCm39)	M408K	probably benign	Het
Qser1	T	C	2: 104,593,205 (GRCm39)	Y1604C	probably damaging	Het
Rpgrip1l	A	G	8: 91,987,400 (GRCm39)	S886P	probably benign	Het
Sdk2	T	C	11: 113,759,778 (GRCm39)	I408V	possibly damaging	Het
Sema7a	A	T	9: 57,867,540 (GRCm39)	R431W	probably damaging	Het
Slc22a30	T	A	19: 8,314,183 (GRCm39)	Y501F	possibly damaging	Het
Slitrk5	T	A	14: 111,917,345 (GRCm39)	V323D	probably damaging	Het
Snap47	C	T	11: 59,329,018 (GRCm39)	E95K	probably damaging	Het
Tbc1d9	A	T	8: 83,998,069 (GRCm39)	I1209F	probably damaging	Het
Tek	T	A	4: 94,708,333 (GRCm39)	M297K	probably benign	Het
Tmem132e	T	A	11: 82,335,684 (GRCm39)	I922N	probably damaging	Het
Trim68	A	T	7: 102,333,560 (GRCm39)	S41T	possibly damaging	Het
Tsga10	A	T	1: 37,874,540 (GRCm39)	M115K	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r84	C	T	10: 130,221,754 (GRCm39)	C822Y	probably damaging	Het
Wdr72	C	T	9: 74,117,625 (GRCm39)	A779V	probably benign	Het
Zfp580	A	T	7: 5,055,891 (GRCm39)		probably benign	Het
Zfp772	G	A	7: 7,207,283 (GRCm39)	T136I	probably benign	Het

Other mutations in Tmx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Tmx2	APN	2	84,503,643 (GRCm39)	missense	probably benign
IGL02458:Tmx2	APN	2	84,503,588 (GRCm39)	unclassified	probably benign
R0201:Tmx2	UTSW	2	84,503,426 (GRCm39)	missense	probably benign
R0240:Tmx2	UTSW	2	84,506,186 (GRCm39)	missense	probably damaging	1.00
R0240:Tmx2	UTSW	2	84,506,186 (GRCm39)	missense	probably damaging	1.00
R0269:Tmx2	UTSW	2	84,502,740 (GRCm39)	missense	probably benign	0.21
R0617:Tmx2	UTSW	2	84,502,740 (GRCm39)	missense	probably benign	0.21
R1651:Tmx2	UTSW	2	84,506,461 (GRCm39)	missense	probably damaging	0.99
R4791:Tmx2	UTSW	2	84,508,340 (GRCm39)	missense	probably damaging	1.00
R7990:Tmx2	UTSW	2	84,506,480 (GRCm39)	missense	probably damaging	1.00
R8739:Tmx2	UTSW	2	84,505,745 (GRCm39)	unclassified	probably benign
R9160:Tmx2	UTSW	2	84,503,907 (GRCm39)	missense	probably damaging	1.00
X0064:Tmx2	UTSW	2	84,506,439 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGAAGCCCAAGGTGAAACTCC -3'
(R):5'- ACCCAAAGGCCATGGATTTG -3'

Sequencing Primer
(F):5'- CCCCGGCATGAAATGTGGATC -3'
(R):5'- GGATTTGTTGAACGATACCAGCC -3'

Posted On

2017-12-01