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, 4930500L08Rik, D2Bwg1356e

MMRRC Submission

045324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134594185-134644145 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134620639 bp (GRCm38)

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 (GRCm38)	H48L	probably damaging	Het
Aifm3	A	G	16: 17,500,789 (GRCm38)	I185V	probably benign	Het
Asb7	A	T	7: 66,660,236 (GRCm38)	D77E	probably damaging	Het
Cacna1i	T	C	15: 80,355,758 (GRCm38)	I336T	probably damaging	Het
Cadps2	A	T	6: 23,323,334 (GRCm38)	L1016*	probably null	Het
Ccdc129	A	G	6: 55,968,678 (GRCm38)	R795G	probably benign	Het
Cep63	C	A	9: 102,596,155 (GRCm38)	M504I	probably benign	Het
Chpf2	G	T	5: 24,589,526 (GRCm38)	L231F	probably damaging	Het
Cnot10	T	C	9: 114,625,902 (GRCm38)	Y221C	probably damaging	Het
Col3a1	G	A	1: 45,342,205 (GRCm38)		probably benign	Het
Csl	T	C	10: 99,759,098 (GRCm38)	D35G	probably damaging	Het
Csmd3	T	C	15: 47,676,479 (GRCm38)	Y2286C	probably damaging	Het
Dbt	A	G	3: 116,539,760 (GRCm38)	E293G	possibly damaging	Het
Ddx31	T	A	2: 28,847,513 (GRCm38)		probably null	Het
Dnm1	T	C	2: 32,309,591 (GRCm38)		probably benign	Het
Elfn1	A	G	5: 139,972,285 (GRCm38)	Y348C	probably damaging	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Epha5	T	A	5: 84,106,710 (GRCm38)	I657F	probably damaging	Het
Fbp1	A	G	13: 62,865,010 (GRCm38)	F123S	possibly damaging	Het
Hkdc1	T	C	10: 62,393,702 (GRCm38)	N732S	probably damaging	Het
Itfg1	A	G	8: 85,736,151 (GRCm38)	S448P	probably benign	Het
Izumo2	A	G	7: 44,709,074 (GRCm38)	K84R	probably benign	Het
Kbtbd3	A	G	9: 4,316,921 (GRCm38)	Y24C	probably benign	Het
Kif1b	T	C	4: 149,192,596 (GRCm38)	M1337V	probably benign	Het
Mdn1	T	C	4: 32,773,308 (GRCm38)	L5489P	probably damaging	Het
Mettl2	G	A	11: 105,132,581 (GRCm38)		probably null	Het
Mtr	T	C	13: 12,216,866 (GRCm38)	T651A	probably benign	Het
Naglu	A	G	11: 101,077,351 (GRCm38)		probably null	Het
Nkx6-1	G	T	5: 101,659,476 (GRCm38)	H347N	probably damaging	Het
Ntpcr	A	G	8: 125,736,104 (GRCm38)	E20G	probably benign	Het
Oas2	T	C	5: 120,734,981 (GRCm38)	R670G	probably null	Het
Olfr1208	T	C	2: 88,897,118 (GRCm38)	I160V	probably benign	Het
Olfr239	G	A	17: 33,199,638 (GRCm38)	V197I	probably benign	Het
Olfr698	C	G	7: 106,752,801 (GRCm38)	E196Q	probably benign	Het
Phldb2	A	C	16: 45,774,993 (GRCm38)	V902G	probably benign	Het
Rdh7	T	C	10: 127,885,781 (GRCm38)	R209G	probably benign	Het
Slc13a3	A	C	2: 165,445,653 (GRCm38)	L127R	probably damaging	Het
Slc6a20b	T	A	9: 123,604,949 (GRCm38)	I275F	possibly damaging	Het
St3gal1	A	G	15: 67,111,346 (GRCm38)	V187A	possibly damaging	Het
Trh	A	T	6: 92,242,843 (GRCm38)	M164K	possibly damaging	Het
Trhr	A	G	15: 44,197,585 (GRCm38)	N167S	probably benign	Het
Ttll7	G	A	3: 146,931,582 (GRCm38)	R490Q	possibly damaging	Het
Uck1	T	C	2: 32,258,655 (GRCm38)	N100S	probably benign	Het
Ucp3	A	T	7: 100,480,269 (GRCm38)	T104S	probably benign	Het
Vmn2r28	T	A	7: 5,486,436 (GRCm38)	H468L	probably benign	Het
Xaf1	G	A	11: 72,308,638 (GRCm38)	R67H	probably benign	Het
Ypel4	T	C	2: 84,736,743 (GRCm38)		probably benign	Het
Zfp687	A	G	3: 95,010,784 (GRCm38)	I559T	probably damaging	Het

Other mutations in Tmx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0033:Tmx4	UTSW	2	134,600,998 (GRCm38)	splice site	probably null
R0033:Tmx4	UTSW	2	134,600,998 (GRCm38)	splice site	probably null
R0124:Tmx4	UTSW	2	134,639,720 (GRCm38)	critical splice donor site	probably null
R0311:Tmx4	UTSW	2	134,598,526 (GRCm38)	makesense	probably null
R0844:Tmx4	UTSW	2	134,600,008 (GRCm38)	critical splice donor site	probably null
R3804:Tmx4	UTSW	2	134,620,577 (GRCm38)	missense	probably damaging	1.00
R3964:Tmx4	UTSW	2	134,600,061 (GRCm38)	missense	possibly damaging	0.81
R3966:Tmx4	UTSW	2	134,600,061 (GRCm38)	missense	possibly damaging	0.81
R4296:Tmx4	UTSW	2	134,598,629 (GRCm38)	missense	probably benign	0.00
R6011:Tmx4	UTSW	2	134,639,836 (GRCm38)	missense	probably damaging	1.00
R6241:Tmx4	UTSW	2	134,639,505 (GRCm38)	intron	probably benign
R6810:Tmx4	UTSW	2	134,620,674 (GRCm38)	missense	probably damaging	0.98
R6882:Tmx4	UTSW	2	134,644,002 (GRCm38)	missense	possibly damaging	0.53
R6912:Tmx4	UTSW	2	134,598,799 (GRCm38)	missense	probably benign	0.06
R7483:Tmx4	UTSW	2	134,639,661 (GRCm38)	missense	probably benign	0.01
R7545:Tmx4	UTSW	2	134,609,505 (GRCm38)	missense	possibly damaging	0.89
R7737:Tmx4	UTSW	2	134,639,668 (GRCm38)	missense	probably benign	0.00
R7857:Tmx4	UTSW	2	134,639,662 (GRCm38)	missense	probably benign	0.00
R8177:Tmx4	UTSW	2	134,643,902 (GRCm38)	missense	probably damaging	1.00
R8266:Tmx4	UTSW	2	134,639,541 (GRCm38)	missense	unknown
R8473:Tmx4	UTSW	2	134,609,524 (GRCm38)	missense	probably benign	0.00
R9647:Tmx4	UTSW	2	134,639,668 (GRCm38)	missense	probably benign	0.00
Z1177:Tmx4	UTSW	2	134,598,651 (GRCm38)	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