Mutagenetix > Incidental Mutation

Incidental Mutation 'R7772:Tmx3'

628497

Institutional Source

Beutler Lab

Gene Symbol

Tmx3

Ensembl Gene

ENSMUSG00000024614

Gene Name

thioredoxin-related transmembrane protein 3

Synonyms

A730024F05Rik, Txndc10, 6430411B10Rik

MMRRC Submission

045828-MU

Accession Numbers

Essential gene?

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

Stock #

R7772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90528336-90561391 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 90545918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025515 (fasta)

Gene Model

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

AlphaFold

Q8BXZ1

Predicted Effect

probably null
Transcript: ENSMUST00000025515

SMART Domains

Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,839,784 (GRCm39)		probably null	Het
Adora3	T	C	3: 105,815,039 (GRCm39)	V263A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Arfgef1	A	G	1: 10,227,235 (GRCm39)	V1368A	possibly damaging	Het
Arid4a	A	T	12: 71,108,363 (GRCm39)	N56I	possibly damaging	Het
Art3	A	T	5: 92,551,472 (GRCm39)	Y277F	probably damaging	Het
Atp2a1	A	T	7: 126,047,707 (GRCm39)		probably null	Het
Banf1	T	C	19: 5,415,150 (GRCm39)	K54E	possibly damaging	Het
Bckdk	A	G	7: 127,505,073 (GRCm39)	Y151C	probably damaging	Het
C1qtnf3	C	A	15: 10,958,130 (GRCm39)	P58T	possibly damaging	Het
Cadps2	T	C	6: 23,390,445 (GRCm39)	R744G	probably benign	Het
Cdc25b	A	G	2: 131,031,029 (GRCm39)	D118G	probably damaging	Het
Cnot9	G	A	1: 74,566,151 (GRCm39)	V181I	probably damaging	Het
Cobl	C	T	11: 12,204,488 (GRCm39)	G738D	probably benign	Het
Col18a1	T	A	10: 76,904,220 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,772,564 (GRCm39)	V171A	probably benign	Het
Dhx57	C	T	17: 80,580,507 (GRCm39)	D482N	possibly damaging	Het
Dpysl2	A	T	14: 67,066,425 (GRCm39)		probably null	Het
Drd3	G	T	16: 43,582,758 (GRCm39)	A52S	probably benign	Het
Dst	T	C	1: 34,220,469 (GRCm39)	V2091A	possibly damaging	Het
Evpl	T	C	11: 116,112,261 (GRCm39)	T1810A	probably benign	Het
Fbxo2	T	A	4: 148,248,783 (GRCm39)	W92R	probably damaging	Het
Gas2l2	T	A	11: 83,320,103 (GRCm39)	D51V	possibly damaging	Het
Gm11232	A	T	4: 71,674,818 (GRCm39)	V228E	possibly damaging	Het
Gm14305	C	T	2: 176,412,764 (GRCm39)	Q219*	probably null	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr39	G	T	1: 125,605,334 (GRCm39)	M87I	possibly damaging	Het
Heatr1	T	C	13: 12,432,522 (GRCm39)	M1089T	probably benign	Het
Ifi206	A	T	1: 173,308,640 (GRCm39)	M452K		Het
Ints8	A	T	4: 11,227,190 (GRCm39)	I561N	probably damaging	Het
Itgb2	A	T	10: 77,396,946 (GRCm39)	K660N	probably benign	Het
Jun	A	C	4: 94,939,081 (GRCm39)	V143G	probably benign	Het
Kalrn	A	G	16: 33,851,952 (GRCm39)	M2076T	probably benign	Het
Krt10	G	T	11: 99,279,913 (GRCm39)	S82R	unknown	Het
Lipm	T	A	19: 34,095,291 (GRCm39)	H295Q	probably damaging	Het
Mybpc2	A	C	7: 44,165,348 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,584,608 (GRCm39)	V103A	possibly damaging	Het
Nol10	T	C	12: 17,398,586 (GRCm39)	I11T	probably damaging	Het
Nup210l	A	G	3: 90,067,233 (GRCm39)	S758G	probably damaging	Het
Or13d1	T	A	4: 52,970,713 (GRCm39)	C31S	probably damaging	Het
Or52r1c	T	G	7: 102,735,388 (GRCm39)	I216S	probably benign	Het
Or8d4	T	C	9: 40,038,661 (GRCm39)	I199V	probably benign	Het
Osbpl9	T	C	4: 108,923,384 (GRCm39)	H425R	probably damaging	Het
Parp1	G	T	1: 180,416,963 (GRCm39)	R582S	possibly damaging	Het
Piwil1	A	T	5: 128,816,527 (GRCm39)	R36S	probably benign	Het
Pjvk	T	C	2: 76,487,877 (GRCm39)		probably null	Het
Plekha6	G	T	1: 133,097,760 (GRCm39)	E31D	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Psmc6	T	A	14: 45,581,107 (GRCm39)	I301N	probably damaging	Het
Rfpl4	C	A	7: 5,118,543 (GRCm39)	S9I	probably benign	Het
Rnf14	G	T	18: 38,442,629 (GRCm39)	C310F	probably damaging	Het
Rnf17	T	A	14: 56,715,144 (GRCm39)	F845L	probably benign	Het
Robo2	T	C	16: 73,758,777 (GRCm39)	I665V	probably benign	Het
Rtl1	T	A	12: 109,559,619 (GRCm39)	H740L	probably damaging	Het
Ryr2	A	G	13: 11,765,897 (GRCm39)	S1280P	probably benign	Het
Slc12a8	G	A	16: 33,371,335 (GRCm39)	R126H	probably damaging	Het
Slc9a1	T	C	4: 133,139,276 (GRCm39)	F165L	probably damaging	Het
Snx19	T	C	9: 30,340,221 (GRCm39)	I453T	probably damaging	Het
Spag17	T	C	3: 99,987,434 (GRCm39)	Y1575H	probably damaging	Het
Spef2	T	C	15: 9,704,567 (GRCm39)	I415M	probably damaging	Het
Ssx2ip	T	G	3: 146,138,885 (GRCm39)	I459S	probably damaging	Het
Stfa1	A	G	16: 36,097,363 (GRCm39)		probably null	Het
Tmem156	A	T	5: 65,237,517 (GRCm39)	S48T	probably damaging	Het
Unc93a	A	T	17: 13,328,639 (GRCm39)	F405I	possibly damaging	Het
Vmn1r209	T	A	13: 22,990,664 (GRCm39)	I9F	possibly damaging	Het
Vmn2r93	A	G	17: 18,533,482 (GRCm39)	D462G	probably damaging	Het
Wdr90	T	A	17: 26,080,465 (GRCm39)		probably benign	Het
Zfp551	T	C	7: 12,152,535 (GRCm39)	D66G	probably damaging	Het
Znrf4	A	C	17: 56,819,247 (GRCm39)	V20G	possibly damaging	Het
Zscan4d	T	C	7: 10,896,770 (GRCm39)	E200G	probably benign	Het
Zup1	A	T	10: 33,797,698 (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
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
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'- CTTCCAGGGAGGTATCTGAAAAC -3'
(R):5'- CGAGTTAAAGCTTTAGAACTTACCATC -3'

Sequencing Primer
(F):5'- GAAAGGACCCTGATATAGCTGTCTC -3'
(R):5'- TTTCAGCGTCACGTACTG -3'

Posted On

2020-04-21