Mutagenetix > Incidental Mutation

Incidental Mutation 'R2697:Tmem43'

251185

Institutional Source

Beutler Lab

Gene Symbol

Tmem43

Ensembl Gene

ENSMUSG00000030095

Gene Name

transmembrane protein 43

Synonyms

LUMA, 1200015A22Rik

MMRRC Submission

040435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2697 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91450689-91465445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91456911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 164 (E164G)

Ref Sequence

ENSEMBL: ENSMUSP00000032183 (fasta)

Gene Model

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

AlphaFold

Q9DBS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032183
AA Change: E164G

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: E164G

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,619 (GRCm39)	S46G	unknown	Het
Acaca	T	A	11: 84,255,239 (GRCm39)	D1932E	probably damaging	Het
Adam7	A	T	14: 68,752,232 (GRCm39)	C417*	probably null	Het
Adgrl4	A	C	3: 151,216,260 (GRCm39)	Q481P	probably damaging	Het
Adra2c	C	A	5: 35,438,042 (GRCm39)	N271K	probably benign	Het
Ahctf1	T	C	1: 179,580,097 (GRCm39)	K2035R	probably damaging	Het
Ano3	T	C	2: 110,625,305 (GRCm39)	T182A	possibly damaging	Het
Armc3	T	C	2: 19,308,746 (GRCm39)	Y805H	probably damaging	Het
BC024139	TCCACCACCACCACCACCAC	TCCACCACCACCACCAC	15: 76,004,393 (GRCm39)		probably benign	Het
Cabp7	C	T	11: 4,688,837 (GRCm39)	R211H	probably damaging	Het
Ccdc117	T	C	11: 5,484,888 (GRCm39)	N112S	possibly damaging	Het
Cep120	C	T	18: 53,873,197 (GRCm39)	D45N	probably benign	Het
Cpsf1	T	C	15: 76,483,529 (GRCm39)	Y872C	probably damaging	Het
Cradd	A	G	10: 95,011,807 (GRCm39)	L111P	probably damaging	Het
Crhr2	A	G	6: 55,079,815 (GRCm39)	L155P	probably damaging	Het
Fgd2	A	T	17: 29,595,895 (GRCm39)	T518S	probably damaging	Het
Gpam	C	T	19: 55,071,641 (GRCm39)	E367K	probably damaging	Het
Gtf3c1	T	A	7: 125,243,126 (GRCm39)	N1826I	probably damaging	Het
Kcnq5	T	C	1: 21,549,656 (GRCm39)	E357G	probably damaging	Het
Krt1	T	A	15: 101,755,364 (GRCm39)	D465V	probably damaging	Het
Lcor	T	A	19: 41,572,466 (GRCm39)	V407E	probably benign	Het
Macrod1	T	C	19: 7,174,157 (GRCm39)	V221A	probably damaging	Het
Mbd1	T	C	18: 74,406,688 (GRCm39)	S144P	possibly damaging	Het
Mtfmt	T	C	9: 65,359,303 (GRCm39)	V326A	probably benign	Het
Myo1b	T	C	1: 51,902,517 (GRCm39)	D71G	probably benign	Het
Myo1h	A	G	5: 114,493,274 (GRCm39)	Y705C	probably damaging	Het
Nudt9	T	C	5: 104,212,859 (GRCm39)	W311R	probably damaging	Het
Or11g27	C	T	14: 50,771,238 (GRCm39)	A123V	probably damaging	Het
Or2a57	A	T	6: 43,213,060 (GRCm39)	I173F	probably damaging	Het
Or2h15	A	G	17: 38,441,900 (GRCm39)	F61S	probably damaging	Het
Or6c65	G	A	10: 129,603,793 (GRCm39)	V143I	probably benign	Het
Osbp2	A	T	11: 3,813,407 (GRCm39)	L154Q	probably benign	Het
P3h1	A	G	4: 119,104,377 (GRCm39)	T633A	probably damaging	Het
Polq	T	G	16: 36,862,515 (GRCm39)	L616R	probably damaging	Het
Pon3	A	G	6: 5,232,429 (GRCm39)	L197S	possibly damaging	Het
Rap1gds1	C	T	3: 138,689,482 (GRCm39)		probably null	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rfng	C	A	11: 120,674,865 (GRCm39)		probably benign	Het
Rps6ka2	T	G	17: 7,567,721 (GRCm39)	L728R	probably benign	Het
Slc41a3	C	A	6: 90,619,302 (GRCm39)	N360K	possibly damaging	Het
Sult1e1	T	C	5: 87,726,397 (GRCm39)	N239S	probably damaging	Het
Tacr1	T	A	6: 82,469,578 (GRCm39)	I154N	probably damaging	Het
Tacstd2	T	A	6: 67,512,203 (GRCm39)	H163L	probably benign	Het
Tent5a	T	C	9: 85,206,793 (GRCm39)	D335G	possibly damaging	Het
Tiam1	T	C	16: 89,590,052 (GRCm39)	S1382G	probably benign	Het
U2af2	G	A	7: 5,070,545 (GRCm39)	R78H	probably benign	Het
Yipf7	T	A	5: 69,698,483 (GRCm39)	D8V	possibly damaging	Het
Zfp58	G	A	13: 67,639,124 (GRCm39)	H456Y	probably damaging	Het
Zfp799	G	A	17: 33,039,214 (GRCm39)	R351*	probably null	Het
Zfyve9	T	C	4: 108,553,016 (GRCm39)	D715G	probably damaging	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
R1581:Tmem43	UTSW	6	91,455,717 (GRCm39)	missense	probably benign	0.01
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
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'- CTTCAGAGTCTTGCATGCCC -3'
(R):5'- TGTTAACTTGAGGGTCAGCAAAG -3'

Sequencing Primer
(F):5'- TGCCCAGCATCCAGGGAG -3'
(R):5'- CAGCAAAGACCAGCTCTTGTGTTG -3'

Posted On

2014-12-04