Mutagenetix > Incidental Mutation

Incidental Mutation 'R7637:Tmx3'

590037

Institutional Source

Beutler Lab

Gene Symbol

Tmx3

Ensembl Gene

ENSMUSG00000024614

Gene Name

thioredoxin-related transmembrane protein 3

Synonyms

A730024F05Rik, Txndc10, 6430411B10Rik

MMRRC Submission

045695-MU

Accession Numbers

Essential gene?

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

Stock #

R7637 (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 90555233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 317 (T317A)

Ref Sequence

ENSEMBL: ENSMUSP00000025515 (fasta)

Gene Model

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

AlphaFold

Q8BXZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025515
AA Change: T317A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614
AA Change: T317A

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

0.1000

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,109,778 (GRCm39)	Q651L	probably benign	Het
Adam8	C	T	7: 139,565,343 (GRCm39)	V624I	probably damaging	Het
Cltc	T	C	11: 86,621,158 (GRCm39)	H287R	probably damaging	Het
Cmya5	T	C	13: 93,219,720 (GRCm39)	K3243R	possibly damaging	Het
Dock5	G	A	14: 68,023,789 (GRCm39)	T1124M	possibly damaging	Het
Fam8a1	A	T	13: 46,824,723 (GRCm39)	M237L	probably benign	Het
Fars2	G	T	13: 36,388,758 (GRCm39)	K82N	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm57858	T	A	3: 36,101,025 (GRCm39)	Q49L	probably damaging	Het
Gnat3	A	G	5: 18,208,770 (GRCm39)	D158G		Het
Grhl2	A	C	15: 37,328,574 (GRCm39)	N400T	probably damaging	Het
Grin2c	A	T	11: 115,147,085 (GRCm39)		probably null	Het
Hipk4	A	G	7: 27,222,973 (GRCm39)	Y11C	probably damaging	Het
Hspa9	G	T	18: 35,071,740 (GRCm39)	A620E	not run	Het
Igkv12-89	A	G	6: 68,812,083 (GRCm39)	S29P	probably benign	Het
Itga8	A	T	2: 12,113,998 (GRCm39)	D1039E	probably damaging	Het
Itgae	A	T	11: 73,004,457 (GRCm39)	D248V	probably damaging	Het
Kmt2c	T	C	5: 25,520,093 (GRCm39)	K2006E	probably damaging	Het
Litafd	C	T	16: 8,501,510 (GRCm39)	P59L	unknown	Het
Mdga1	C	T	17: 30,051,353 (GRCm39)	G934R	probably benign	Het
Mov10	T	C	3: 104,703,201 (GRCm39)	N896S	probably benign	Het
Ndufb6	A	T	4: 40,273,080 (GRCm39)		probably null	Het
Nlk	T	C	11: 78,481,831 (GRCm39)		probably null	Het
Notch2	T	A	3: 98,053,939 (GRCm39)	S2201T	probably damaging	Het
Or5i1	A	T	2: 87,613,778 (GRCm39)	D298V	probably damaging	Het
Pank1	A	C	19: 34,799,388 (GRCm39)		probably null	Het
Pdlim3	T	C	8: 46,362,102 (GRCm39)	F126S	probably damaging	Het
Pds5a	C	A	5: 65,795,947 (GRCm39)	G648C	probably benign	Het
Plekhh3	T	C	11: 101,055,153 (GRCm39)	I567V	unknown	Het
Ppfia2	T	C	10: 106,701,264 (GRCm39)		probably null	Het
Prl3d1	A	G	13: 27,284,052 (GRCm39)	D207G	probably damaging	Het
Prss23	T	A	7: 89,159,454 (GRCm39)	D205V	probably benign	Het
Pygl	C	T	12: 70,244,569 (GRCm39)		probably null	Het
Qsox2	A	G	2: 26,111,032 (GRCm39)	F111S	probably damaging	Het
Sart3	T	C	5: 113,909,413 (GRCm39)	N95S	probably benign	Het
Scpep1	A	G	11: 88,820,046 (GRCm39)	F414S	probably damaging	Het
Selenbp1	C	A	3: 94,844,659 (GRCm39)	Y105*	probably null	Het
Sirpa	A	G	2: 129,458,365 (GRCm39)	D327G	probably benign	Het
Sowahc	G	A	10: 59,058,005 (GRCm39)	R47H	probably damaging	Het
Szt2	T	C	4: 118,251,025 (GRCm39)	Y361C	probably damaging	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tie1	T	C	4: 118,330,175 (GRCm39)	I1042M	probably damaging	Het
Tmem132e	T	A	11: 82,325,342 (GRCm39)	L114Q	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Tpr	T	C	1: 150,299,267 (GRCm39)	Y1156H	probably damaging	Het
Trank1	A	C	9: 111,194,364 (GRCm39)	D796A	possibly damaging	Het
Tsc2	G	A	17: 24,826,466 (GRCm39)	P928S	probably benign	Het
Unc80	G	T	1: 66,711,843 (GRCm39)	V2722F	possibly damaging	Het
Vmn1r199	G	T	13: 22,566,845 (GRCm39)	L46F	probably benign	Het
Vps13a	A	T	19: 16,727,513 (GRCm39)	H196Q	probably benign	Het
Wnt10a	T	A	1: 74,832,633 (GRCm39)	C75*	probably null	Het
Zfp335	A	G	2: 164,734,459 (GRCm39)		probably null	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
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'- GAAAAGTTCTTGTAGACCACAGTG -3'
(R):5'- TGGGATGAAGCTGATTCCCTC -3'

Sequencing Primer
(F):5'- AGCTCCTAAGATATAAATGAGG -3'
(R):5'- GGGATGAAGCTGATTCCCTCTAACC -3'

Posted On

2019-10-24