Mutagenetix > Incidental Mutation

Incidental Mutation 'R7737:Tmx4'

596307

Institutional Source

Beutler Lab

Gene Symbol

Tmx4

Ensembl Gene

ENSMUSG00000034723

Gene Name

thioredoxin-related transmembrane protein 4

Synonyms

2810417D04Rik, Txndc13, 4930500L08Rik, D2Bwg1356e

MMRRC Submission

045793-MU

Accession Numbers

Essential gene?

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

Stock #

R7737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134594185-134644145 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134639668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 112 (M112L)

Ref Sequence

ENSEMBL: ENSMUSP00000105746 (fasta)

Gene Model

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

AlphaFold

Q8C0L0

Predicted Effect

probably benign
Transcript: ENSMUST00000038228

SMART Domains

Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723

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

probably benign
Transcript: ENSMUST00000110119
AA Change: M112L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105746
Gene: ENSMUSG00000034723
AA Change: M112L

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

probably benign
Transcript: ENSMUST00000110120

SMART Domains

Protein: ENSMUSP00000105747
Gene: ENSMUSG00000034723

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	G	13: 66,433,677 (GRCm38)		probably null	Het
9530053A07Rik	T	A	7: 28,157,073 (GRCm38)	V2095E	probably damaging	Het
Adamts18	A	T	8: 113,736,934 (GRCm38)		probably null	Het
Akap3	T	A	6: 126,874,102 (GRCm38)	M861K	probably damaging	Het
Ankrd42	T	C	7: 92,605,262 (GRCm38)	T380A	possibly damaging	Het
Arhgef5	A	G	6: 43,273,794 (GRCm38)	E493G	possibly damaging	Het
Armc4	A	G	18: 7,217,890 (GRCm38)	L608P	probably damaging	Het
Arvcf	G	A	16: 18,397,101 (GRCm38)	R119Q	probably damaging	Het
Asmt	T	C	X: 170,676,440 (GRCm38)	F228S	probably damaging	Het
Atp2c2	T	A	8: 119,742,395 (GRCm38)	V349E	probably damaging	Het
BC034090	A	G	1: 155,241,673 (GRCm38)	V233A	possibly damaging	Het
Brinp3	G	T	1: 146,682,594 (GRCm38)	K85N	probably damaging	Het
Ccr6	G	A	17: 8,245,094 (GRCm38)		probably benign	Het
D7Ertd443e	A	G	7: 134,270,201 (GRCm38)	S644P	probably damaging	Het
Ddb1	C	T	19: 10,625,974 (GRCm38)	A882V	possibly damaging	Het
Epha4	C	T	1: 77,381,012 (GRCm38)	G783D	probably damaging	Het
Ephb1	T	A	9: 101,984,103 (GRCm38)	I621F	probably damaging	Het
Fbxw18	G	T	9: 109,701,263 (GRCm38)	Y93*	probably null	Het
Gak	A	C	5: 108,617,008 (GRCm38)	L84R	probably benign	Het
Gm21671	AACT	A	5: 25,950,851 (GRCm38)		probably benign	Het
Gm5458	A	T	14: 19,599,737 (GRCm38)		probably null	Het
Gpatch3	C	G	4: 133,575,096 (GRCm38)	Q113E	probably benign	Het
Gpld1	C	A	13: 24,975,726 (GRCm38)	L426M	probably damaging	Het
Ighmbp2	G	A	19: 3,274,467 (GRCm38)	P234S	unknown	Het
Itga6	G	A	2: 71,822,443 (GRCm38)	V217I	probably benign	Het
Kdm7a	A	T	6: 39,144,404 (GRCm38)	N872K	probably benign	Het
Klhl14	G	T	18: 21,558,134 (GRCm38)	Y446*	probably null	Het
Larp4b	T	A	13: 9,170,643 (GRCm38)		probably null	Het
Lct	A	T	1: 128,298,693 (GRCm38)	W1320R	probably benign	Het
Lrp2	T	C	2: 69,496,438 (GRCm38)	D1763G	possibly damaging	Het
Lrrk2	A	T	15: 91,815,446 (GRCm38)	N2499Y	probably damaging	Het
Lsg1	T	C	16: 30,581,185 (GRCm38)		probably null	Het
Mettl15	T	C	2: 109,137,378 (GRCm38)	K188E	probably damaging	Het
Mfsd4b1	A	G	10: 40,003,278 (GRCm38)	S208P	probably damaging	Het
Mlxipl	T	C	5: 135,135,381 (GRCm38)	S793P	possibly damaging	Het
Ms4a14	G	A	19: 11,302,786 (GRCm38)	Q803*	probably null	Het
Mtor	A	C	4: 148,538,738 (GRCm38)	E2015A	possibly damaging	Het
Myo15b	A	T	11: 115,887,923 (GRCm38)	Y2581F	unknown	Het
Myo7b	A	T	18: 32,014,204 (GRCm38)	Y95*	probably null	Het
Nf1	A	G	11: 79,545,488 (GRCm38)	I1985V	probably benign	Het
Noxred1	G	A	12: 87,221,362 (GRCm38)	Q332*	probably null	Het
Nudt21	A	T	8: 94,022,833 (GRCm38)	Y202N	probably damaging	Het
Olfr345	A	T	2: 36,640,620 (GRCm38)	I194F	probably benign	Het
Pik3c2a	A	T	7: 116,356,253 (GRCm38)	S1176T	probably damaging	Het
Pramef17	A	C	4: 143,991,956 (GRCm38)	S306A	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541 (GRCm38)		probably benign	Het
Rbmxl1	A	G	8: 78,505,623 (GRCm38)	S364P	unknown	Het
Rnf24	T	A	2: 131,303,496 (GRCm38)	K131N	probably benign	Het
Scai	T	A	2: 39,123,022 (GRCm38)	Q132L	probably damaging	Het
Sh3tc1	T	C	5: 35,723,953 (GRCm38)	R49G	probably benign	Het
Slc12a7	A	G	13: 73,788,677 (GRCm38)	E152G	probably benign	Het
Slc22a27	A	T	19: 7,896,762 (GRCm38)	M316K	probably damaging	Het
Spag1	G	T	15: 36,210,710 (GRCm38)	A427S	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm38)		probably benign	Het
Stk16	G	T	1: 75,211,351 (GRCm38)	C8F	probably damaging	Het
Syne2	T	C	12: 75,942,848 (GRCm38)	C1834R	probably damaging	Het
Tie1	C	T	4: 118,478,857 (GRCm38)		probably null	Het
Timp2	A	G	11: 118,303,895 (GRCm38)	I156T	probably damaging	Het
Tmem163	A	G	1: 127,491,610 (GRCm38)	M286T	possibly damaging	Het
Trank1	G	T	9: 111,366,012 (GRCm38)	E1035*	probably null	Het
Trim5	C	T	7: 104,279,564 (GRCm38)	V57M	probably damaging	Het
Ubr3	A	G	2: 69,991,566 (GRCm38)	S1391G	probably benign	Het
Vmn1r72	A	T	7: 11,669,707 (GRCm38)	S271R	probably damaging	Het
Xpo5	G	A	17: 46,236,090 (GRCm38)		probably null	Het
Zfp592	A	T	7: 81,025,193 (GRCm38)	H635L	probably damaging	Het
Zfp791	A	T	8: 85,112,215 (GRCm38)	N62K	probably benign	Het
Zmynd11	G	A	13: 9,695,139 (GRCm38)	T248M	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
R6463:Tmx4	UTSW	2	134,620,639 (GRCm38)	missense	probably damaging	0.98
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
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'- GCTCAAGCTTAACTTCACAAATGG -3'
(R):5'- TATGCTCCATGGTGTCCATC -3'

Sequencing Primer
(F):5'- GCTTCCAGTTTATAGAAAGCGG -3'
(R):5'- ATGGTGTCCATCCTGCCAG -3'

Posted On

2019-11-26