Mutagenetix > Incidental Mutation

Incidental Mutation 'R5383:Tmem43'

424842

Institutional Source

Beutler Lab

Gene Symbol

Tmem43

Ensembl Gene

ENSMUSG00000030095

Gene Name

transmembrane protein 43

Synonyms

LUMA, 1200015A22Rik

MMRRC Submission

042958-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5383 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

91450689-91465445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91450872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 2 (A2T)

Ref Sequence

ENSEMBL: ENSMUSP00000032183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032183] [ENSMUST00000040835]

AlphaFold

Q9DBS1

Predicted Effect

probably benign
Transcript: ENSMUST00000032183
AA Change: A2T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: A2T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040835

SMART Domains

Protein: ENSMUSP00000041380
Gene: ENSMUSG00000034203

Domain	Start	End	E-Value	Type
Pfam:CHCH	64	100	8.4e-12	PFAM
low complexity region	109	123	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205954

Meta Mutation Damage Score

0.1048

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,211,532 (GRCm39)	Y227F	possibly damaging	Het
Aadac	T	C	3: 59,943,496 (GRCm39)		probably benign	Het
Abl2	G	A	1: 156,469,802 (GRCm39)	G918E	possibly damaging	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Adck1	T	C	12: 88,422,373 (GRCm39)	V328A	probably benign	Het
Ano6	A	G	15: 95,813,918 (GRCm39)	I279V	probably benign	Het
AW551984	T	A	9: 39,501,994 (GRCm39)	Y704F	probably benign	Het
C1s1	T	C	6: 124,511,360 (GRCm39)	D321G	probably damaging	Het
Cacna1d	T	A	14: 29,767,236 (GRCm39)	D1910V	possibly damaging	Het
Cdh5	A	G	8: 104,864,479 (GRCm39)	Q480R	probably benign	Het
Cdhr1	C	T	14: 36,810,964 (GRCm39)	V266M	possibly damaging	Het
Cdk5rap1	A	T	2: 154,192,755 (GRCm39)	V414D	possibly damaging	Het
Ctdnep1	T	A	11: 69,875,222 (GRCm39)		probably benign	Het
Cyfip2	T	C	11: 46,168,918 (GRCm39)	M212V	possibly damaging	Het
D130043K22Rik	G	A	13: 25,041,397 (GRCm39)	S273N	probably benign	Het
Ddi2	A	G	4: 141,412,163 (GRCm39)	S250P	probably damaging	Het
Dennd1b	A	G	1: 139,095,409 (GRCm39)	T486A	probably benign	Het
Disc1	A	G	8: 125,862,196 (GRCm39)	T523A	probably damaging	Het
Dmbx1	A	G	4: 115,775,342 (GRCm39)	S313P	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnah11	T	C	12: 118,049,432 (GRCm39)	E1664G	probably damaging	Het
Dpysl3	A	T	18: 43,571,103 (GRCm39)	V57E	probably damaging	Het
Fam98a	C	T	17: 75,845,576 (GRCm39)	G390E	unknown	Het
Hook3	C	A	8: 26,609,017 (GRCm39)	R9L	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Impg2	A	G	16: 56,063,989 (GRCm39)	D298G	probably benign	Het
Inf2	T	A	12: 112,566,579 (GRCm39)	V48D	probably damaging	Het
Itprid1	T	A	6: 55,955,275 (GRCm39)	L961H	probably benign	Het
Kcnh1	G	A	1: 192,187,999 (GRCm39)	G820D	probably benign	Het
Lsm14a	C	T	7: 34,088,789 (GRCm39)	A39T	possibly damaging	Het
Muc2	T	C	7: 141,307,456 (GRCm39)	C804R	probably damaging	Het
Nim1k	C	T	13: 120,189,335 (GRCm39)	V25M	probably benign	Het
Or11g25	T	A	14: 50,723,509 (GRCm39)	L198*	probably null	Het
Or4a73	T	C	2: 89,421,457 (GRCm39)	M1V	probably null	Het
Or5b122	T	A	19: 13,563,439 (GRCm39)	M257K	probably damaging	Het
Or6c68	A	G	10: 129,158,205 (GRCm39)	T238A	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,231 (GRCm39)	D857G	probably benign	Het
Pitrm1	T	A	13: 6,627,468 (GRCm39)	H856Q	probably damaging	Het
Pkd1	T	C	17: 24,793,349 (GRCm39)	C1679R	probably benign	Het
Pkp4	T	A	2: 59,140,617 (GRCm39)	L441*	probably null	Het
Ppp4r4	T	C	12: 103,550,427 (GRCm39)	F284L	probably benign	Het
Ptprt	T	A	2: 161,539,969 (GRCm39)	K769M	probably damaging	Het
Rbm12	G	T	2: 155,945,285 (GRCm39)		probably benign	Het
Rpf1	T	C	3: 146,225,146 (GRCm39)	D94G	possibly damaging	Het
Scap	G	T	9: 110,203,597 (GRCm39)	K310N	probably damaging	Het
Smpd2	C	T	10: 41,364,698 (GRCm39)		probably benign	Het
Sp110	TC	TCC	1: 85,519,290 (GRCm39)		probably null	Het
Specc1l	T	A	10: 75,082,539 (GRCm39)	I662N	possibly damaging	Het
Sptan1	T	A	2: 29,901,340 (GRCm39)	V1496D	probably damaging	Het
Srrm4	T	C	5: 116,609,319 (GRCm39)		probably benign	Het
Taf2	A	G	15: 54,912,815 (GRCm39)	I515T	possibly damaging	Het
Tdrd3	C	T	14: 87,718,227 (GRCm39)	Q203*	probably null	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Trav9-1	T	A	14: 53,725,833 (GRCm39)	I49N	probably benign	Het
Trim23	T	G	13: 104,335,205 (GRCm39)	N410K	probably damaging	Het
Ttbk1	T	C	17: 46,778,342 (GRCm39)	T567A	probably damaging	Het
Unc79	A	G	12: 103,070,886 (GRCm39)	N1081S	possibly damaging	Het
Zfp451	A	C	1: 33,852,887 (GRCm39)	I9R	probably damaging	Het
Zfp563	T	A	17: 33,323,681 (GRCm39)	M92K	probably benign	Het
Zfp618	G	A	4: 63,013,729 (GRCm39)	G198D	probably benign	Het
Zfp637	G	T	6: 117,820,270 (GRCm39)		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
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
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
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'- GTCAGACGTCGGACTACATTTC -3'
(R):5'- GACTAATTGCTGAGGCCCAC -3'

Sequencing Primer
(F):5'- GTCGGACTACATTTCCCAGCAG -3'
(R):5'- TTGCTGAGGCCCACAAACG -3'

Posted On

2016-08-04