Mutagenetix > Incidental Mutation

Incidental Mutation 'R5748:Tmx3'

445899

Institutional Source

Beutler Lab

Gene Symbol

Tmx3

Ensembl Gene

ENSMUSG00000024614

Gene Name

thioredoxin-related transmembrane protein 3

Synonyms

A730024F05Rik, Txndc10, 6430411B10Rik

MMRRC Submission

043355-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R5748 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90528336-90561391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90555225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 314 (V314A)

Ref Sequence

ENSEMBL: ENSMUSP00000025515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025515]

AlphaFold

Q8BXZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000025515
AA Change: V314A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614
AA Change: V314A

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	30	132	3.6e-26	PFAM
Pfam:Thioredoxin_6	160	341	1.6e-27	PFAM
transmembrane domain	377	399	N/A	INTRINSIC
low complexity region	418	436	N/A	INTRINSIC

Meta Mutation Damage Score

0.1732

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (58/59)

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 gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,739,447 (GRCm39)	Q285R	probably damaging	Het
Acy1	T	A	9: 106,313,926 (GRCm39)	N78I	probably damaging	Het
Anln	T	C	9: 22,249,230 (GRCm39)	K166E	probably damaging	Het
C1qtnf4	A	G	2: 90,719,877 (GRCm39)	D50G	probably damaging	Het
Cntnap2	A	G	6: 45,692,818 (GRCm39)	T100A	probably damaging	Het
Cxcr6	C	T	9: 123,639,406 (GRCm39)	R143C	probably damaging	Het
Dhx16	T	C	17: 36,194,206 (GRCm39)	L439P	probably damaging	Het
Dlk1	T	C	12: 109,425,898 (GRCm39)	V257A	probably benign	Het
Ebpl	A	T	14: 61,597,793 (GRCm39)	L16Q	probably null	Het
Eml5	T	A	12: 98,791,814 (GRCm39)	Y1234F	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,200,702 (GRCm39)	D793G	probably benign	Het
Gtse1	T	C	15: 85,751,778 (GRCm39)	Y324H	probably benign	Het
Hcn1	A	T	13: 118,112,591 (GRCm39)	S852C	probably damaging	Het
Invs	A	G	4: 48,307,823 (GRCm39)	T83A	probably damaging	Het
Iqgap3	T	C	3: 88,016,677 (GRCm39)	L155P	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc14b	T	A	13: 74,511,759 (GRCm39)	D107V	probably damaging	Het
Mcm9	A	T	10: 53,501,825 (GRCm39)	H253Q	probably damaging	Het
Mcmdc2	A	G	1: 9,982,032 (GRCm39)	Y30C	probably damaging	Het
Mdga1	C	T	17: 30,069,525 (GRCm39)	D174N	probably benign	Het
Med13l	G	A	5: 118,731,510 (GRCm39)	R62H	probably damaging	Het
Mrgpra2b	A	G	7: 47,152,280 (GRCm39)		probably benign	Het
Nacad	T	A	11: 6,548,370 (GRCm39)	K1426*	probably null	Het
Ndufb6	A	G	4: 40,279,234 (GRCm39)	L35S	probably damaging	Het
Niban2	A	T	2: 32,809,581 (GRCm39)	K260M	probably damaging	Het
Nkapl	A	G	13: 21,651,779 (GRCm39)	I278T	probably benign	Het
Nrbp2	T	C	15: 75,961,332 (GRCm39)	E263G	probably damaging	Het
Nup85	T	A	11: 115,471,338 (GRCm39)	L110Q	probably damaging	Het
Or14c40	A	G	7: 86,313,293 (GRCm39)	N141S	possibly damaging	Het
Or1e35	A	G	11: 73,797,721 (GRCm39)	I199T	probably damaging	Het
Or2t6	T	C	14: 14,175,314 (GRCm38)	Y256C	probably damaging	Het
Or4a78	A	T	2: 89,498,146 (GRCm39)	M28K	possibly damaging	Het
Or5b12	T	A	19: 12,897,379 (GRCm39)	Q98L	probably damaging	Het
Or6b2b	T	A	1: 92,418,815 (GRCm39)	I221F	probably damaging	Het
Polr2m	C	T	9: 71,390,918 (GRCm39)	D95N	probably benign	Het
Popdc2	A	T	16: 38,194,665 (GRCm39)	D362V	probably damaging	Het
Pot1a	A	T	6: 25,758,855 (GRCm39)	I308N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rundc3a	G	A	11: 102,290,225 (GRCm39)	E189K	possibly damaging	Het
Scaf1	A	C	7: 44,662,230 (GRCm39)		probably null	Het
Scaper	T	C	9: 55,766,360 (GRCm39)		probably null	Het
Sh3glb1	C	T	3: 144,418,410 (GRCm39)	C51Y	probably damaging	Het
Slc10a5	T	C	3: 10,400,391 (GRCm39)	T90A	probably benign	Het
Slc17a3	T	A	13: 24,040,449 (GRCm39)	S336T	probably damaging	Het
Slc41a2	C	A	10: 83,133,023 (GRCm39)	C341F	probably benign	Het
Spata31	A	G	13: 65,068,127 (GRCm39)	*67W	probably null	Het
Stap2	C	T	17: 56,307,475 (GRCm39)		probably null	Het
Stt3a	A	T	9: 36,663,696 (GRCm39)	M182K	probably benign	Het
Tcfl5	G	A	2: 180,284,050 (GRCm39)		silent	Het
Upf1	A	G	8: 70,791,167 (GRCm39)	L525P	probably damaging	Het
Wdr6	T	C	9: 108,452,981 (GRCm39)	I301V	possibly damaging	Het
Ylpm1	T	A	12: 85,107,025 (GRCm39)		probably null	Het
Zfp273	T	C	13: 67,973,450 (GRCm39)	Y160H	probably damaging	Het

Other mutations in Tmx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Tmx3	APN	18	90,558,178 (GRCm39)	missense	possibly damaging	0.53
IGL01790:Tmx3	APN	18	90,529,458 (GRCm39)	critical splice donor site	probably null
IGL01888:Tmx3	APN	18	90,546,045 (GRCm39)	missense	probably benign	0.05
IGL02689:Tmx3	APN	18	90,555,240 (GRCm39)	missense	possibly damaging	0.70
IGL03212:Tmx3	APN	18	90,556,642 (GRCm39)	missense	probably damaging	0.98
R0243:Tmx3	UTSW	18	90,556,613 (GRCm39)	splice site	probably benign
R0255:Tmx3	UTSW	18	90,558,130 (GRCm39)	missense	probably damaging	0.96
R0981:Tmx3	UTSW	18	90,555,324 (GRCm39)	missense	probably benign
R1528:Tmx3	UTSW	18	90,555,210 (GRCm39)	missense	possibly damaging	0.89
R1772:Tmx3	UTSW	18	90,551,121 (GRCm39)	missense	probably benign
R2144:Tmx3	UTSW	18	90,535,614 (GRCm39)	missense	probably damaging	1.00
R2155:Tmx3	UTSW	18	90,528,505 (GRCm39)	splice site	probably null
R2202:Tmx3	UTSW	18	90,546,037 (GRCm39)	missense	probably damaging	1.00
R2444:Tmx3	UTSW	18	90,558,307 (GRCm39)	missense	probably damaging	1.00
R2960:Tmx3	UTSW	18	90,551,116 (GRCm39)	missense	probably damaging	0.98
R3435:Tmx3	UTSW	18	90,546,028 (GRCm39)	missense	probably damaging	1.00
R3946:Tmx3	UTSW	18	90,542,459 (GRCm39)	missense	possibly damaging	0.78
R4427:Tmx3	UTSW	18	90,541,725 (GRCm39)	missense	probably damaging	0.99
R4708:Tmx3	UTSW	18	90,539,163 (GRCm39)	critical splice donor site	probably null
R5938:Tmx3	UTSW	18	90,546,058 (GRCm39)	missense	possibly damaging	0.79
R6266:Tmx3	UTSW	18	90,555,334 (GRCm39)	splice site	probably null
R7311:Tmx3	UTSW	18	90,558,195 (GRCm39)	missense	probably benign	0.13
R7637:Tmx3	UTSW	18	90,555,233 (GRCm39)	missense	probably damaging	0.99
R7649:Tmx3	UTSW	18	90,558,154 (GRCm39)	missense	probably damaging	1.00
R7772:Tmx3	UTSW	18	90,545,918 (GRCm39)	splice site	probably null
R7899:Tmx3	UTSW	18	90,545,998 (GRCm39)	critical splice acceptor site	probably null
R9319:Tmx3	UTSW	18	90,558,068 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AAGTTCTTGTAGACCACAGTGG -3'
(R):5'- CAGTGGGATGAAGCTGATTCCC -3'

Sequencing Primer
(F):5'- GCTCCTAAGATATAAATGAGGA -3'
(R):5'- GGGATGAAGCTGATTCCCTCTAAC -3'

Posted On

2016-11-21