Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Tmem43'

171395

Institutional Source

Beutler Lab

Gene Symbol

Tmem43

Ensembl Gene

ENSMUSG00000030095

Gene Name

transmembrane protein 43

Synonyms

LUMA, 1200015A22Rik

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1581 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

91450689-91465445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91455717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 109 (H109Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032183 (fasta)

Gene Model

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

AlphaFold

Q9DBS1

Predicted Effect

probably benign
Transcript: ENSMUST00000032183
AA Change: H109Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: H109Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205954

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,063,347 (GRCm39)	E447G	probably benign	Het
Actn4	T	C	7: 28,598,071 (GRCm39)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,133,153 (GRCm39)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,789,326 (GRCm39)		probably benign	Het
Bmyc	T	C	2: 25,597,346 (GRCm39)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Casc3	C	T	11: 98,713,644 (GRCm39)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm39)		probably null	Het
Cnnm2	A	G	19: 46,751,562 (GRCm39)	T451A	probably damaging	Het
Eed	T	C	7: 89,629,676 (GRCm39)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,220,383 (GRCm39)	M180K	probably benign	Het
Esr1	T	C	10: 4,947,905 (GRCm39)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,422,393 (GRCm39)	I207V	possibly damaging	Het
Fancg	G	A	4: 43,007,039 (GRCm39)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,293,030 (GRCm39)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,839,961 (GRCm39)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,816,626 (GRCm39)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 40,693,255 (GRCm39)	S408L	probably benign	Het
Gm9476	T	C	10: 100,142,474 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,127,836 (GRCm39)		probably null	Het
H6pd	T	A	4: 150,066,971 (GRCm39)	I472F	possibly damaging	Het
Hydin	A	T	8: 111,137,092 (GRCm39)	M632L	probably benign	Het
Hyou1	C	T	9: 44,300,167 (GRCm39)	P819S	probably damaging	Het
Il6st	A	G	13: 112,618,075 (GRCm39)	E163G	probably damaging	Het
Kcnk1	T	C	8: 126,722,278 (GRCm39)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,407,114 (GRCm39)		probably null	Het
Klk1b22	A	G	7: 43,765,399 (GRCm39)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,752,796 (GRCm39)	D3G	probably benign	Het
Lpp	C	A	16: 24,500,591 (GRCm39)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,347,843 (GRCm39)	R2951*	probably null	Het
Luzp2	T	A	7: 54,899,238 (GRCm39)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,158,237 (GRCm39)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,462,289 (GRCm39)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,659,289 (GRCm39)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,443,964 (GRCm39)	T253A	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or1r1	A	T	11: 73,875,347 (GRCm39)	L29H	probably damaging	Het
Padi6	T	C	4: 140,463,147 (GRCm39)	Y146C	probably damaging	Het
Pank4	C	T	4: 155,059,108 (GRCm39)	R414W	probably damaging	Het
Pclo	T	G	5: 14,571,296 (GRCm39)	I227S	probably benign	Het
Plppr4	A	G	3: 117,121,915 (GRCm39)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,425,568 (GRCm39)	R25C	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,362,022 (GRCm39)	T192A	probably benign	Het
Rtbdn	A	G	8: 85,681,695 (GRCm39)	E131G	probably benign	Het
Ryr2	A	G	13: 11,809,449 (GRCm39)	V792A	probably benign	Het
Sacs	G	T	14: 61,451,128 (GRCm39)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,286,538 (GRCm39)	S123G	probably benign	Het
Septin9	A	G	11: 117,181,421 (GRCm39)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 126,218,356 (GRCm39)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,053,505 (GRCm39)	T127A	probably damaging	Het
Sphk2	A	G	7: 45,362,920 (GRCm39)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,243 (GRCm39)	D101E	probably damaging	Het
Tmem67	C	A	4: 12,047,814 (GRCm39)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,630,074 (GRCm39)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,523,913 (GRCm39)	S191R	probably benign	Het
Ttll1	C	T	15: 83,380,478 (GRCm39)	V296M	probably damaging	Het
Upp2	A	C	2: 58,664,177 (GRCm39)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,640 (GRCm39)	C780R	probably damaging	Het
Wars1	C	A	12: 108,841,635 (GRCm39)	E171*	probably null	Het
Zeb2	A	T	2: 44,887,012 (GRCm39)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,595,549 (GRCm39)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,392,033 (GRCm39)	L442Q	probably benign	Het

Other mutations in Tmem43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Tmem43	APN	6	91,454,356 (GRCm39)	missense	possibly damaging	0.73
IGL03105:Tmem43	APN	6	91,457,682 (GRCm39)	missense	probably damaging	1.00
R0415:Tmem43	UTSW	6	91,459,300 (GRCm39)	missense	probably benign	0.13
R1388:Tmem43	UTSW	6	91,455,785 (GRCm39)	splice site	probably null
R1777:Tmem43	UTSW	6	91,454,312 (GRCm39)	nonsense	probably null
R1895:Tmem43	UTSW	6	91,463,891 (GRCm39)	missense	probably benign	0.31
R1946:Tmem43	UTSW	6	91,463,891 (GRCm39)	missense	probably benign	0.31
R2697:Tmem43	UTSW	6	91,456,911 (GRCm39)	missense	possibly damaging	0.85
R4778:Tmem43	UTSW	6	91,459,237 (GRCm39)	missense	probably damaging	1.00
R5205:Tmem43	UTSW	6	91,463,763 (GRCm39)	missense	possibly damaging	0.89
R5366:Tmem43	UTSW	6	91,455,240 (GRCm39)	missense	probably benign	0.43
R5383:Tmem43	UTSW	6	91,450,872 (GRCm39)	missense	probably benign	0.00
R5516:Tmem43	UTSW	6	91,455,192 (GRCm39)	missense	possibly damaging	0.70
R5569:Tmem43	UTSW	6	91,454,336 (GRCm39)	missense	probably benign	0.01
R5656:Tmem43	UTSW	6	91,457,690 (GRCm39)	missense	probably benign	0.01
R6490:Tmem43	UTSW	6	91,463,862 (GRCm39)	missense	possibly damaging	0.91
R6490:Tmem43	UTSW	6	91,455,759 (GRCm39)	missense	probably damaging	0.97
R7853:Tmem43	UTSW	6	91,458,968 (GRCm39)	missense	probably benign	0.06
R8330:Tmem43	UTSW	6	91,455,746 (GRCm39)	missense	possibly damaging	0.94
R8947:Tmem43	UTSW	6	91,462,362 (GRCm39)	missense	probably damaging	1.00
R9069:Tmem43	UTSW	6	91,463,897 (GRCm39)	missense	possibly damaging	0.91
R9132:Tmem43	UTSW	6	91,459,291 (GRCm39)	missense	probably benign	0.06
R9159:Tmem43	UTSW	6	91,459,291 (GRCm39)	missense	probably benign	0.06
S24628:Tmem43	UTSW	6	91,459,300 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AGCATCATAGGCGTTGTGTTGAGAG -3'
(R):5'- TGCTAACCATGCACTAATGCGGAG -3'

Sequencing Primer
(F):5'- TGAGAGCTGAGGTTGGCAG -3'
(R):5'- GACACTTTTCTGATAGGCAGACC -3'

Posted On

2014-04-13