Mutagenetix > Incidental Mutation

Incidental Mutation 'R6810:Tmx4'

533741

Institutional Source

Beutler Lab

Gene Symbol

Tmx4

Ensembl Gene

ENSMUSG00000034723

Gene Name

thioredoxin-related transmembrane protein 4

Synonyms

2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik

MMRRC Submission

044923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134436421-134486041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 134462594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 112 (D112E)

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: D112E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723
AA Change: D112E

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: D112E

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105747
Gene: ENSMUSG00000034723
AA Change: D112E

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

96% (53/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	T	8: 95,660,570 (GRCm39)	T70S	probably damaging	Het
Adora1	T	C	1: 134,161,777 (GRCm39)	Y106C	probably damaging	Het
Aox3	T	A	1: 58,180,590 (GRCm39)	N250K	probably benign	Het
Ap2b1	A	T	11: 83,226,317 (GRCm39)	Y238F	possibly damaging	Het
Birc6	G	A	17: 74,919,215 (GRCm39)	S2015N	possibly damaging	Het
C7	A	G	15: 5,037,136 (GRCm39)	F581L	probably damaging	Het
Cd27	A	T	6: 125,210,627 (GRCm39)	H203Q	probably damaging	Het
Cdk2	A	G	10: 128,535,456 (GRCm39)	V274A	probably benign	Het
Cenpe	A	G	3: 134,949,583 (GRCm39)	T1351A	probably benign	Het
Chd7	T	C	4: 8,839,523 (GRCm39)	L1353P	probably damaging	Het
Dcc	C	T	18: 71,503,764 (GRCm39)	V945M	probably damaging	Het
Dio1	A	G	4: 107,154,922 (GRCm39)	V118A	probably damaging	Het
Dst	C	T	1: 34,251,379 (GRCm39)	T1818M	probably damaging	Het
Dthd1	T	A	5: 62,971,672 (GRCm39)	M165K	probably benign	Het
Eif5b	A	G	1: 38,085,741 (GRCm39)	I929V	probably benign	Het
F5	T	A	1: 164,014,471 (GRCm39)	S581T	probably damaging	Het
Fanca	A	C	8: 124,013,216 (GRCm39)	I761S	probably damaging	Het
Fat2	T	C	11: 55,173,067 (GRCm39)	T2549A	possibly damaging	Het
Fut2	A	G	7: 45,299,929 (GRCm39)	L281P	probably damaging	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gm5431	T	C	11: 48,779,803 (GRCm39)	D651G	probably damaging	Het
Hook3	A	C	8: 26,522,450 (GRCm39)		probably null	Het
Ivd	G	T	2: 118,700,242 (GRCm39)	V90L	probably benign	Het
Klhdc7b	A	G	15: 89,272,559 (GRCm39)	Y1147C	possibly damaging	Het
Mlh1	G	A	9: 111,070,626 (GRCm39)	T363M	possibly damaging	Het
Ndufa3	A	T	7: 3,622,476 (GRCm39)	I45F	probably damaging	Het
Nell2	T	C	15: 95,139,468 (GRCm39)	D588G	probably damaging	Het
Nhlrc3	T	C	3: 53,360,996 (GRCm39)	N253S	probably benign	Het
Nlrp4c	T	A	7: 6,069,754 (GRCm39)	F552I	probably damaging	Het
Or51g1	A	C	7: 102,634,042 (GRCm39)	S110A	probably damaging	Het
Or5j3	G	A	2: 86,128,267 (GRCm39)	A36T	probably benign	Het
Pcdhga12	T	C	18: 37,900,232 (GRCm39)	S355P	probably benign	Het
Pcdhga7	A	T	18: 37,848,926 (GRCm39)	Y311F	probably benign	Het
Phldb2	A	G	16: 45,569,088 (GRCm39)		probably null	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Plxna4	A	G	6: 32,287,457 (GRCm39)	V480A	probably benign	Het
Psrc1	A	T	3: 108,292,664 (GRCm39)	K152N	possibly damaging	Het
Ptcd3	A	C	6: 71,862,516 (GRCm39)	V473G	probably damaging	Het
Rab11fip1	ACTCT	ACT	8: 27,642,760 (GRCm39)		probably null	Het
Semp2l2b	C	T	10: 21,942,616 (GRCm39)	G455R	probably damaging	Het
Skint6	T	C	4: 112,805,577 (GRCm39)		probably null	Het
Slc24a1	A	G	9: 64,855,605 (GRCm39)	V434A	probably benign	Het
Snd1	T	A	6: 28,668,609 (GRCm39)	V432E	probably benign	Het
Syne2	C	T	12: 75,989,659 (GRCm39)	T1847M	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tes	C	A	6: 17,104,651 (GRCm39)	N377K	probably benign	Het
Tfip11	T	A	5: 112,481,463 (GRCm39)	I452N	probably benign	Het
Tgfbi	T	C	13: 56,785,016 (GRCm39)	S658P	probably benign	Het
Tnn	G	T	1: 159,932,412 (GRCm39)	D1367E	probably damaging	Het
Triobp	A	G	15: 78,850,815 (GRCm39)	N323S	possibly damaging	Het
Usp40	T	C	1: 87,908,755 (GRCm39)	D582G	probably benign	Het
Vmn2r99	A	G	17: 19,600,296 (GRCm39)	K440R	probably benign	Het
Zfp707	T	A	15: 75,846,748 (GRCm39)	L193Q	probably damaging	Het
Zfp748	T	C	13: 67,689,844 (GRCm39)	Y472C	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
R6463:Tmx4	UTSW	2	134,462,559 (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'- CTAAAACCACTGGAAGTACATGTGGG -3'
(R):5'- AAAATAACACATGCCTTCTGGG -3'

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

Posted On

2018-09-12