Mutagenetix > Incidental Mutation

Incidental Mutation 'R6882:Tmx4'

536705

Institutional Source

Beutler Lab

Gene Symbol

Tmx4

Ensembl Gene

ENSMUSG00000034723

Gene Name

thioredoxin-related transmembrane protein 4

Synonyms

2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik

MMRRC Submission

044977-MU

Accession Numbers

Essential gene?

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

Stock #

R6882 (G1)

Quality Score

121.008

Status

Validated

Chromosome

Chromosomal Location

134436421-134486041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134485922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2 (T2A)

Ref Sequence

ENSEMBL: ENSMUSP00000045154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038228] [ENSMUST00000110119] [ENSMUST00000110120]

AlphaFold

Q8C0L0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038228
AA Change: T2A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723
AA Change: T2A

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

unknown
Transcript: ENSMUST00000110119
AA Change: T2A

SMART Domains

Protein: ENSMUSP00000105746
Gene: ENSMUSG00000034723
AA Change: T2A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	34	100	5.6e-11	PFAM
transmembrane domain	132	154	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000110120
AA Change: T2A

SMART Domains

Protein: ENSMUSP00000105747
Gene: ENSMUSG00000034723
AA Change: T2A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 71,003,125 (GRCm39)	E238G	probably benign	Het
Adgrf5	T	A	17: 43,761,271 (GRCm39)	C989S	probably damaging	Het
Ank2	T	G	3: 126,739,406 (GRCm39)		probably benign	Het
C2cd6	T	C	1: 59,105,318 (GRCm39)	D320G	probably damaging	Het
Cacnb2	T	A	2: 14,829,110 (GRCm39)	I15N	probably benign	Het
Cage1	T	A	13: 38,206,534 (GRCm39)	Q437L	probably damaging	Het
Capn15	G	T	17: 26,179,153 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,484 (GRCm39)	Y424H	probably damaging	Het
Ccdc166	T	C	15: 75,853,466 (GRCm39)	H167R	possibly damaging	Het
Ccdc7a	T	C	8: 129,523,809 (GRCm39)		probably benign	Het
Cdkl4	T	A	17: 80,851,175 (GRCm39)	T176S	probably damaging	Het
Cnot1	T	C	8: 96,447,054 (GRCm39)	E2321G	possibly damaging	Het
Col6a5	G	A	9: 105,817,469 (GRCm39)	Q281*	probably null	Het
Csmd2	A	G	4: 128,343,062 (GRCm39)	T1485A	probably benign	Het
Dmxl1	A	G	18: 49,976,851 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,570,407 (GRCm39)	I2271T	possibly damaging	Het
Elavl2	A	G	4: 91,196,952 (GRCm39)	I42T	probably damaging	Het
Epn3	C	T	11: 94,382,186 (GRCm39)	A568T	probably benign	Het
Etv3	T	C	3: 87,436,577 (GRCm39)	F111L	probably damaging	Het
Fnip1	A	G	11: 54,400,724 (GRCm39)	E1041G	probably damaging	Het
Fosl2	T	C	5: 32,310,208 (GRCm39)	V219A	possibly damaging	Het
Foxj2	T	A	6: 122,805,464 (GRCm39)		probably null	Het
Gm8947	G	A	1: 151,068,880 (GRCm39)	A238T	possibly damaging	Het
Golgb1	C	A	16: 36,734,352 (GRCm39)	Q1200K	probably benign	Het
Igkv4-55	A	G	6: 69,584,289 (GRCm39)	Y108H	probably damaging	Het
Iglc1	G	A	16: 18,880,599 (GRCm39)		probably benign	Het
Ints13	G	T	6: 146,464,939 (GRCm39)	R221S	probably null	Het
Ipo11	T	C	13: 107,037,190 (GRCm39)		probably null	Het
Kcnn2	A	T	18: 45,692,505 (GRCm39)	H27L	possibly damaging	Het
Kcns3	C	T	12: 11,142,049 (GRCm39)	V217M	probably benign	Het
Klra9	A	T	6: 130,155,985 (GRCm39)	C257S	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lmbr1l	A	G	15: 98,805,467 (GRCm39)	F345L	probably damaging	Het
Lrrc18	A	C	14: 32,730,646 (GRCm39)	I62L	probably benign	Het
Mr1	A	G	1: 155,008,199 (GRCm39)	W259R	possibly damaging	Het
Myo15a	G	A	11: 60,414,832 (GRCm39)	R3325H	probably damaging	Het
Nid2	A	G	14: 19,839,775 (GRCm39)	D788G	probably damaging	Het
Or2y1c	A	T	11: 49,361,290 (GRCm39)	Y104F	probably benign	Het
Or5an10	C	A	19: 12,275,934 (GRCm39)	Q187H	probably damaging	Het
Or5h24	A	T	16: 58,918,990 (GRCm39)	C122S	unknown	Het
Or6d12	T	C	6: 116,493,395 (GRCm39)	V219A	probably benign	Het
Pbld1	T	C	10: 62,897,241 (GRCm39)	L11P	probably benign	Het
Pcnt	T	C	10: 76,263,662 (GRCm39)	E434G	probably benign	Het
Prg4	G	A	1: 150,329,246 (GRCm39)	T174M	probably damaging	Het
Prkdc	G	A	16: 15,601,127 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,626,020 (GRCm39)	S3349T	probably benign	Het
Prpf38a	C	A	4: 108,427,365 (GRCm39)	E199D	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Rhbg	T	A	3: 88,152,527 (GRCm39)	H339L	probably damaging	Het
Rnf183	A	G	4: 62,346,261 (GRCm39)	I179T	probably benign	Het
Sh3bp5l	G	T	11: 58,222,525 (GRCm39)	A7S	probably benign	Het
Slc12a3	T	A	8: 95,092,546 (GRCm39)	I989N	possibly damaging	Het
Sycp3	C	T	10: 88,308,791 (GRCm39)	R246*	probably null	Het
Tmprss11b	T	A	5: 86,819,530 (GRCm39)		probably null	Het
Tnfsf10	T	C	3: 27,380,182 (GRCm39)	L82S	possibly damaging	Het
Tnni3k	T	A	3: 154,663,357 (GRCm39)	I332F	possibly damaging	Het
Ttn	T	A	2: 76,644,539 (GRCm39)	T13072S	probably benign	Het
Vmn2r1	A	T	3: 63,997,529 (GRCm39)	Y395F	possibly damaging	Het
Zbbx	A	G	3: 74,979,019 (GRCm39)	V476A	probably benign	Het
Zfp341	T	C	2: 154,479,943 (GRCm39)	C465R	probably damaging	Het
Zfp398	A	G	6: 47,843,016 (GRCm39)	D224G	probably damaging	Het
Zfp407	G	T	18: 84,361,194 (GRCm39)		probably null	Het
Zfp52	T	C	17: 21,775,309 (GRCm39)	M1T	probably null	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
R6810:Tmx4	UTSW	2	134,462,594 (GRCm39)	missense	probably damaging	0.98
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'- GGGACACTCACAATTTCAGC -3'
(R):5'- AACTGCAGACGGTTGCTTTG -3'

Sequencing Primer
(F):5'- TCACAATTTCAGCATCCACTCG -3'
(R):5'- TTCCCACAGTGCGTTGG -3'

Posted On

2018-10-18