Mutagenetix > Incidental Mutation

Incidental Mutation 'R0415:Tmem43'

40233

Institutional Source

Beutler Lab

Gene Symbol

Tmem43

Ensembl Gene

ENSMUSG00000030095

Gene Name

transmembrane protein 43

Synonyms

1200015A22Rik, LUMA

MMRRC Submission

038617-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0415 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

91473703-91488463 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91482318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 257 (P257Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032183]

AlphaFold

Q9DBS1

Predicted Effect

probably benign
Transcript: ENSMUST00000032183
AA Change: P257Q

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: P257Q

Domain	Start	End	E-Value	Type
transmembrane domain	32	51	N/A	INTRINSIC
Pfam:DUF1625	121	373	3.6e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153179

Meta Mutation Damage Score

0.1186

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
PHENOTYPE: In a gihg-throughput screen, female homozygous mutant mice exhibited an increased anxiety-like response during open field activity testing when compared with their gender-matched wild-type littermates and the historical mean. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 23,831,050 (GRCm38)		noncoding transcript	Het
Acox2	A	G	14: 8,243,835 (GRCm38)		probably benign	Het
Adgb	T	C	10: 10,431,067 (GRCm38)		probably null	Het
Adgra3	C	A	5: 49,961,757 (GRCm38)		probably benign	Het
Adgre4	G	A	17: 55,852,288 (GRCm38)	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871 (GRCm38)		probably benign	Het
Anapc2	A	G	2: 25,278,325 (GRCm38)	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,613,127 (GRCm38)		probably benign	Het
Atf7ip	C	T	6: 136,560,012 (GRCm38)	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,368,830 (GRCm38)		probably benign	Het
Camk1	A	T	6: 113,341,891 (GRCm38)	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118 (GRCm38)	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615 (GRCm38)	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431 (GRCm38)	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080 (GRCm38)	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442 (GRCm38)		probably benign	Het
Cul5	C	T	9: 53,667,070 (GRCm38)	V73I	probably benign	Het
Cxcl16	T	A	11: 70,458,748 (GRCm38)	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095 (GRCm38)		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524 (GRCm38)	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289 (GRCm38)		probably benign	Het
Dis3	A	T	14: 99,087,456 (GRCm38)	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048 (GRCm38)	L3*	probably null	Het
Dopey1	T	A	9: 86,506,502 (GRCm38)	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392 (GRCm38)	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774 (GRCm38)	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414 (GRCm38)	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,121,106 (GRCm38)	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,833,225 (GRCm38)		probably benign	Het
Gm7137	A	G	10: 77,788,173 (GRCm38)		probably benign	Het
Gstm2	T	A	3: 107,984,006 (GRCm38)	Q132L	probably benign	Het
Habp2	T	C	19: 56,317,717 (GRCm38)		probably benign	Het
Hectd2	T	C	19: 36,584,884 (GRCm38)		probably benign	Het
Htr6	A	G	4: 139,062,081 (GRCm38)	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910 (GRCm38)	D199G	unknown	Het
Itih2	A	G	2: 10,105,615 (GRCm38)		probably benign	Het
Kcnab2	A	G	4: 152,395,136 (GRCm38)	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433 (GRCm38)	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975 (GRCm38)		probably null	Het
Kndc1	C	T	7: 139,930,124 (GRCm38)	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006 (GRCm38)	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865 (GRCm38)	L47P	probably damaging	Het
Lyst	T	C	13: 13,711,610 (GRCm38)		probably benign	Het
Macrod2	G	A	2: 142,210,145 (GRCm38)		probably null	Het
Micalcl	C	T	7: 112,381,028 (GRCm38)	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339 (GRCm38)		probably benign	Het
Msh3	A	G	13: 92,346,786 (GRCm38)	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634 (GRCm38)		probably benign	Het
Nxpe2	T	C	9: 48,326,614 (GRCm38)	T114A	probably damaging	Het
Olfr1023	A	T	2: 85,887,438 (GRCm38)	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055 (GRCm38)	H191L	probably benign	Het
Olfr229	A	G	9: 39,909,983 (GRCm38)	Y60C	probably damaging	Het
Olfr78	C	T	7: 102,742,087 (GRCm38)	M305I	probably benign	Het
Olfr893	A	T	9: 38,209,973 (GRCm38)	M305L	probably benign	Het
Pard3	G	A	8: 127,610,566 (GRCm38)	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886 (GRCm38)	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874 (GRCm38)	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051 (GRCm38)	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499 (GRCm38)	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097 (GRCm38)	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336 (GRCm38)	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,456 (GRCm38)	Y45C	probably damaging	Het
Pqlc3	C	A	12: 16,997,710 (GRCm38)		probably benign	Het
Prex1	A	G	2: 166,586,699 (GRCm38)		probably benign	Het
Pth2r	A	G	1: 65,388,439 (GRCm38)	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366 (GRCm38)	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655 (GRCm38)	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138 (GRCm38)	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699 (GRCm38)	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469 (GRCm38)	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156 (GRCm38)	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913 (GRCm38)	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692 (GRCm38)	L14R	probably damaging	Het
Sfswap	A	T	5: 129,504,126 (GRCm38)	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,620,469 (GRCm38)	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110 (GRCm38)	T583P	probably benign	Het
Smg1	C	A	7: 118,182,468 (GRCm38)	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615 (GRCm38)	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576 (GRCm38)	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092 (GRCm38)		probably benign	Het
Tas2r123	A	T	6: 132,847,838 (GRCm38)	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500 (GRCm38)	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973 (GRCm38)	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705 (GRCm38)	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322 (GRCm38)	C197F	probably damaging	Het
Tmem251	T	A	12: 102,744,876 (GRCm38)	Y119*	probably null	Het
Tmprss13	A	G	9: 45,337,132 (GRCm38)		probably null	Het
Trove2	G	T	1: 143,760,075 (GRCm38)	N444K	probably benign	Het
Ubr5	T	C	15: 37,972,980 (GRCm38)	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836 (GRCm38)	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332 (GRCm38)	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279 (GRCm38)	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410 (GRCm38)	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616 (GRCm38)		probably benign	Het
Zfp282	T	A	6: 47,905,053 (GRCm38)	I558N	possibly damaging	Het
Zfp282	A	G	6: 47,897,881 (GRCm38)	D340G	probably damaging	Het
Zfp316	T	A	5: 143,264,491 (GRCm38)	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559 (GRCm38)		probably benign	Het

Other mutations in Tmem43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Tmem43	APN	6	91,477,374 (GRCm38)	missense	possibly damaging	0.73
IGL03105:Tmem43	APN	6	91,480,700 (GRCm38)	missense	probably damaging	1.00
R1388:Tmem43	UTSW	6	91,478,803 (GRCm38)	splice site	probably null
R1581:Tmem43	UTSW	6	91,478,735 (GRCm38)	missense	probably benign	0.01
R1777:Tmem43	UTSW	6	91,477,330 (GRCm38)	nonsense	probably null
R1895:Tmem43	UTSW	6	91,486,909 (GRCm38)	missense	probably benign	0.31
R1946:Tmem43	UTSW	6	91,486,909 (GRCm38)	missense	probably benign	0.31
R2697:Tmem43	UTSW	6	91,479,929 (GRCm38)	missense	possibly damaging	0.85
R4778:Tmem43	UTSW	6	91,482,255 (GRCm38)	missense	probably damaging	1.00
R5205:Tmem43	UTSW	6	91,486,781 (GRCm38)	missense	possibly damaging	0.89
R5366:Tmem43	UTSW	6	91,478,258 (GRCm38)	missense	probably benign	0.43
R5383:Tmem43	UTSW	6	91,473,890 (GRCm38)	missense	probably benign	0.00
R5516:Tmem43	UTSW	6	91,478,210 (GRCm38)	missense	possibly damaging	0.70
R5569:Tmem43	UTSW	6	91,477,354 (GRCm38)	missense	probably benign	0.01
R5656:Tmem43	UTSW	6	91,480,708 (GRCm38)	missense	probably benign	0.01
R6490:Tmem43	UTSW	6	91,486,880 (GRCm38)	missense	possibly damaging	0.91
R6490:Tmem43	UTSW	6	91,478,777 (GRCm38)	missense	probably damaging	0.97
R7853:Tmem43	UTSW	6	91,481,986 (GRCm38)	missense	probably benign	0.06
R8330:Tmem43	UTSW	6	91,478,764 (GRCm38)	missense	possibly damaging	0.94
R8947:Tmem43	UTSW	6	91,485,380 (GRCm38)	missense	probably damaging	1.00
R9069:Tmem43	UTSW	6	91,486,915 (GRCm38)	missense	possibly damaging	0.91
R9132:Tmem43	UTSW	6	91,482,309 (GRCm38)	missense	probably benign	0.06
R9159:Tmem43	UTSW	6	91,482,309 (GRCm38)	missense	probably benign	0.06
S24628:Tmem43	UTSW	6	91,482,318 (GRCm38)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGACAACTTCAAGGCCCTGAGC -3'
(R):5'- TTAGAGCTGAGTGGGATGACCTGAG -3'

Sequencing Primer
(F):5'- ATGTGGACATCATTCGCCG -3'
(R):5'- CTTAGGACGAAGCCCATGTTG -3'

Posted On

2013-05-23