Mutagenetix > Incidental Mutation

Incidental Mutation 'R9319:Tmx3'

706059

Institutional Source

Beutler Lab

Gene Symbol

Tmx3

Ensembl Gene

ENSMUSG00000024614

Gene Name

thioredoxin-related transmembrane protein 3

Synonyms

A730024F05Rik, Txndc10, 6430411B10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R9319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90528336-90561391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90558068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 373 (I373M)

Ref Sequence

ENSEMBL: ENSMUSP00000025515 (fasta)

Gene Model

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

AlphaFold

Q8BXZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000025515
AA Change: I373M

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614
AA Change: I373M

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

0.1807

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,922,446 (GRCm39)	D811G	probably damaging	Het
Akap13	A	G	7: 75,258,836 (GRCm39)	T487A	probably benign	Het
Ankrd6	C	T	4: 32,806,324 (GRCm39)	S643N	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Camk2b	G	T	11: 5,927,814 (GRCm39)	P489Q	probably benign	Het
Cd22	T	A	7: 30,569,329 (GRCm39)	N596Y	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cobl	A	T	11: 12,203,648 (GRCm39)	V1018E	probably benign	Het
Cttn	T	C	7: 144,017,100 (GRCm39)	E34G	probably damaging	Het
Dhx15	G	A	5: 52,342,193 (GRCm39)	R42*	probably null	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dlst	G	T	12: 85,170,585 (GRCm39)	R238L	probably damaging	Het
Dnah7c	A	G	1: 46,521,168 (GRCm39)	E232G	possibly damaging	Het
Dsg1b	C	T	18: 20,531,004 (GRCm39)	Q452*	probably null	Het
Elovl3	A	G	19: 46,122,507 (GRCm39)	T102A	possibly damaging	Het
Epas1	A	G	17: 87,104,545 (GRCm39)	S10G	possibly damaging	Het
Fads2b	G	A	2: 85,320,757 (GRCm39)	R349C	probably damaging	Het
Fanca	T	C	8: 124,018,190 (GRCm39)	I613V	probably benign	Het
Fat1	T	A	8: 45,406,060 (GRCm39)	V937D	probably damaging	Het
Glipr1l1	G	T	10: 111,898,122 (GRCm39)	A76S	probably damaging	Het
Ino80	T	C	2: 119,205,005 (GRCm39)	D1507G	probably benign	Het
Ipo13	T	C	4: 117,769,585 (GRCm39)	D69G	probably benign	Het
Kif2c	T	C	4: 117,035,445 (GRCm39)		probably null	Het
Lrrc61	C	A	6: 48,545,228 (GRCm39)	T17K	probably damaging	Het
Ltk	C	A	2: 119,590,096 (GRCm39)	E43D	probably benign	Het
Mcm3ap	A	G	10: 76,318,638 (GRCm39)	T720A	probably damaging	Het
Mcoln2	T	A	3: 145,875,691 (GRCm39)	V81D	probably damaging	Het
Mturn	T	A	6: 54,658,780 (GRCm39)	V9D	probably benign	Het
Nrg1	T	C	8: 32,323,204 (GRCm39)	D249G	probably benign	Het
Ntng2	T	C	2: 29,091,121 (GRCm39)		probably benign	Het
Odad3	T	C	9: 21,906,203 (GRCm39)	D245G	probably damaging	Het
Pax3	T	A	1: 78,080,079 (GRCm39)	M436L	probably benign	Het
Pias4	G	A	10: 80,991,750 (GRCm39)	P53S	unknown	Het
Pkhd1l1	C	T	15: 44,392,974 (GRCm39)	R1770C	possibly damaging	Het
Plk1	C	A	7: 121,768,122 (GRCm39)	D447E	probably damaging	Het
Rsph10b	A	C	5: 143,903,337 (GRCm39)	M611L	probably benign	Het
Scart1	C	T	7: 139,807,940 (GRCm39)	P704S	possibly damaging	Het
Snrnp40	T	C	4: 130,256,545 (GRCm39)	L90P	possibly damaging	Het
Snu13	T	C	15: 81,928,218 (GRCm39)	T2A	probably benign	Het
Sptlc3	C	T	2: 139,478,730 (GRCm39)	A563V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tpbg	C	T	9: 85,725,991 (GRCm39)		probably benign	Het
Troap	T	C	15: 98,975,444 (GRCm39)	I176T	probably benign	Het
Trpm2	G	A	10: 77,778,776 (GRCm39)	Q397*	probably null	Het
Trpm2	A	T	10: 77,785,032 (GRCm39)	V196E	probably damaging	Het
Vac14	T	A	8: 111,361,018 (GRCm39)	I196N	probably damaging	Het
Vmn2r71	C	T	7: 85,273,694 (GRCm39)	P836L	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
R5748:Tmx3	UTSW	18	90,555,225 (GRCm39)	missense	probably benign	0.05
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

Predicted Primers

PCR Primer
(F):5'- GCCAATTCTGCACACTCACATG -3'
(R):5'- AGTAGGTGCTAGAGACCCTC -3'

Sequencing Primer
(F):5'- CATGTGCATGTAAGAGTGTAGAG -3'
(R):5'- TAGGTGCTAGAGACCCTCCACTG -3'

Posted On

2022-03-25