Mutagenetix > Incidental Mutation

Incidental Mutation 'R6463:Tmx4'

517667

Institutional Source

Beutler Lab

Gene Symbol

Tmx4

Ensembl Gene

ENSMUSG00000034723

Gene Name

thioredoxin-related transmembrane protein 4

Synonyms

2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik

MMRRC Submission

045324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134436421-134486041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134462559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 124 (Y124C)

Ref Sequence

ENSEMBL: ENSMUSP00000045154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038228] [ENSMUST00000110120]

AlphaFold

Q8C0L0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038228
AA Change: Y124C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723
AA Change: Y124C

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	34	134	5.9e-14	PFAM
transmembrane domain	185	207	N/A	INTRINSIC
low complexity region	241	255	N/A	INTRINSIC
low complexity region	258	279	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110120
AA Change: Y124C

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105747
Gene: ENSMUSG00000034723
AA Change: Y124C

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	34	134	4.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137377

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

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 C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,938 (GRCm39)	H48L	probably damaging	Het
Aifm3	A	G	16: 17,318,653 (GRCm39)	I185V	probably benign	Het
Asb7	A	T	7: 66,309,984 (GRCm39)	D77E	probably damaging	Het
Cacna1i	T	C	15: 80,239,959 (GRCm39)	I336T	probably damaging	Het
Cadps2	A	T	6: 23,323,333 (GRCm39)	L1016*	probably null	Het
Cep63	C	A	9: 102,473,354 (GRCm39)	M504I	probably benign	Het
Chpf2	G	T	5: 24,794,524 (GRCm39)	L231F	probably damaging	Het
Cnot10	T	C	9: 114,454,970 (GRCm39)	Y221C	probably damaging	Het
Col3a1	G	A	1: 45,381,365 (GRCm39)		probably benign	Het
Csl	T	C	10: 99,594,960 (GRCm39)	D35G	probably damaging	Het
Csmd3	T	C	15: 47,539,875 (GRCm39)	Y2286C	probably damaging	Het
Dbt	A	G	3: 116,333,409 (GRCm39)	E293G	possibly damaging	Het
Ddx31	T	A	2: 28,737,525 (GRCm39)		probably null	Het
Dnm1	T	C	2: 32,199,603 (GRCm39)		probably benign	Het
Elfn1	A	G	5: 139,958,040 (GRCm39)	Y348C	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha5	T	A	5: 84,254,569 (GRCm39)	I657F	probably damaging	Het
Fbp1	A	G	13: 63,012,824 (GRCm39)	F123S	possibly damaging	Het
Hkdc1	T	C	10: 62,229,481 (GRCm39)	N732S	probably damaging	Het
Itfg1	A	G	8: 86,462,780 (GRCm39)	S448P	probably benign	Het
Itprid1	A	G	6: 55,945,663 (GRCm39)	R795G	probably benign	Het
Izumo2	A	G	7: 44,358,498 (GRCm39)	K84R	probably benign	Het
Kbtbd3	A	G	9: 4,316,921 (GRCm39)	Y24C	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Mdn1	T	C	4: 32,773,308 (GRCm39)	L5489P	probably damaging	Het
Mettl2	G	A	11: 105,023,407 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,231,752 (GRCm39)	T651A	probably benign	Het
Naglu	A	G	11: 100,968,177 (GRCm39)		probably null	Het
Nkx6-1	G	T	5: 101,807,342 (GRCm39)	H347N	probably damaging	Het
Ntpcr	A	G	8: 126,462,843 (GRCm39)	E20G	probably benign	Het
Oas2	T	C	5: 120,873,046 (GRCm39)	R670G	probably null	Het
Or10h1	G	A	17: 33,418,612 (GRCm39)	V197I	probably benign	Het
Or2ag16	C	G	7: 106,352,008 (GRCm39)	E196Q	probably benign	Het
Or4p8	T	C	2: 88,727,462 (GRCm39)	I160V	probably benign	Het
Phldb2	A	C	16: 45,595,356 (GRCm39)	V902G	probably benign	Het
Rdh7	T	C	10: 127,721,650 (GRCm39)	R209G	probably benign	Het
Slc13a3	A	C	2: 165,287,573 (GRCm39)	L127R	probably damaging	Het
Slc6a20b	T	A	9: 123,434,014 (GRCm39)	I275F	possibly damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Trh	A	T	6: 92,219,824 (GRCm39)	M164K	possibly damaging	Het
Trhr	A	G	15: 44,060,981 (GRCm39)	N167S	probably benign	Het
Ttll7	G	A	3: 146,637,337 (GRCm39)	R490Q	possibly damaging	Het
Uck1	T	C	2: 32,148,667 (GRCm39)	N100S	probably benign	Het
Ucp3	A	T	7: 100,129,476 (GRCm39)	T104S	probably benign	Het
Vmn2r28	T	A	7: 5,489,435 (GRCm39)	H468L	probably benign	Het
Xaf1	G	A	11: 72,199,464 (GRCm39)	R67H	probably benign	Het
Ypel4	T	C	2: 84,567,087 (GRCm39)		probably benign	Het
Zfp687	A	G	3: 94,918,095 (GRCm39)	I559T	probably damaging	Het

Other mutations in Tmx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0033:Tmx4	UTSW	2	134,442,918 (GRCm39)	splice site	probably null
R0033:Tmx4	UTSW	2	134,442,918 (GRCm39)	splice site	probably null
R0124:Tmx4	UTSW	2	134,481,640 (GRCm39)	critical splice donor site	probably null
R0311:Tmx4	UTSW	2	134,440,446 (GRCm39)	makesense	probably null
R0844:Tmx4	UTSW	2	134,441,928 (GRCm39)	critical splice donor site	probably null
R3804:Tmx4	UTSW	2	134,462,497 (GRCm39)	missense	probably damaging	1.00
R3964:Tmx4	UTSW	2	134,441,981 (GRCm39)	missense	possibly damaging	0.81
R3966:Tmx4	UTSW	2	134,441,981 (GRCm39)	missense	possibly damaging	0.81
R4296:Tmx4	UTSW	2	134,440,549 (GRCm39)	missense	probably benign	0.00
R6011:Tmx4	UTSW	2	134,481,756 (GRCm39)	missense	probably damaging	1.00
R6241:Tmx4	UTSW	2	134,481,425 (GRCm39)	intron	probably benign
R6810:Tmx4	UTSW	2	134,462,594 (GRCm39)	missense	probably damaging	0.98
R6882:Tmx4	UTSW	2	134,485,922 (GRCm39)	missense	possibly damaging	0.53
R6912:Tmx4	UTSW	2	134,440,719 (GRCm39)	missense	probably benign	0.06
R7483:Tmx4	UTSW	2	134,481,581 (GRCm39)	missense	probably benign	0.01
R7545:Tmx4	UTSW	2	134,451,425 (GRCm39)	missense	possibly damaging	0.89
R7737:Tmx4	UTSW	2	134,481,588 (GRCm39)	missense	probably benign	0.00
R7857:Tmx4	UTSW	2	134,481,582 (GRCm39)	missense	probably benign	0.00
R8177:Tmx4	UTSW	2	134,485,822 (GRCm39)	missense	probably damaging	1.00
R8266:Tmx4	UTSW	2	134,481,461 (GRCm39)	missense	unknown
R8473:Tmx4	UTSW	2	134,451,444 (GRCm39)	missense	probably benign	0.00
R9647:Tmx4	UTSW	2	134,481,588 (GRCm39)	missense	probably benign	0.00
Z1177:Tmx4	UTSW	2	134,440,571 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGAAGTACATGTGGGTCAC -3'
(R):5'- ACACATGCCTTCTGGGTTAATG -3'

Sequencing Primer
(F):5'- CAATGCATGGGTCAATCAGTC -3'
(R):5'- AATGTCTGGGTACAGTATTTTCTTC -3'

Posted On

2018-05-21