Mutagenetix > Incidental Mutation

Incidental Mutation 'R1946:Tmem43'

216674

Institutional Source

Beutler Lab

Gene Symbol

Tmem43

Ensembl Gene

ENSMUSG00000030095

Gene Name

transmembrane protein 43

Synonyms

LUMA, 1200015A22Rik

MMRRC Submission

039964-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1946 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

91450689-91465445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91463891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 389 (I389F)

Ref Sequence

ENSEMBL: ENSMUSP00000032183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000032183]

AlphaFold

Q9DBS1

Predicted Effect

probably benign
Transcript: ENSMUST00000032182

SMART Domains

Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
low complexity region	106	115	N/A	INTRINSIC
low complexity region	118	142	N/A	INTRINSIC
low complexity region	299	315	N/A	INTRINSIC
low complexity region	335	352	N/A	INTRINSIC
low complexity region	371	387	N/A	INTRINSIC
low complexity region	425	439	N/A	INTRINSIC
Pfam:Rad4	485	619	6.4e-26	PFAM
BHD_1	623	675	4.09e-25	SMART
BHD_2	677	737	4.96e-24	SMART
BHD_3	744	818	4.83e-45	SMART
low complexity region	826	835	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000032183
AA Change: I389F

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: I389F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adamts5	C	A	16: 85,696,131 (GRCm39)	C342F	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Aen	G	C	7: 78,552,420 (GRCm39)	E32Q	probably damaging	Het
Apba2	T	C	7: 64,394,378 (GRCm39)		probably null	Het
Arhgap44	A	G	11: 64,902,922 (GRCm39)	M509T	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
Bmpr2	T	C	1: 59,907,556 (GRCm39)	V883A	possibly damaging	Het
Bpifa1	A	T	2: 153,987,554 (GRCm39)	I135F	probably damaging	Het
Bsn	A	G	9: 107,991,850 (GRCm39)	F1301L	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Ccdc18	A	G	5: 108,376,861 (GRCm39)	E1434G	probably damaging	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Cpn1	G	A	19: 43,944,957 (GRCm39)	T450M	probably benign	Het
Dlg4	A	G	11: 69,930,401 (GRCm39)	Y432C	probably damaging	Het
Dnah8	C	A	17: 30,931,359 (GRCm39)	T1458K	probably benign	Het
Dock5	A	T	14: 68,023,765 (GRCm39)	M1132K	probably damaging	Het
Dsg2	A	G	18: 20,713,605 (GRCm39)	D192G	probably damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fndc11	A	T	2: 180,863,627 (GRCm39)	D144V	probably benign	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Gad2	A	T	2: 22,575,440 (GRCm39)	T515S	probably benign	Het
Ganab	T	A	19: 8,888,172 (GRCm39)	D439E	probably damaging	Het
Gm10228	C	A	16: 88,838,241 (GRCm39)	G21V	unknown	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Gsdmc4	C	A	15: 63,774,629 (GRCm39)	D51Y	probably benign	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Kcnq2	T	A	2: 180,730,244 (GRCm39)	D446V	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Lrrcc1	A	G	3: 14,615,453 (GRCm39)	R394G	probably benign	Het
Lrrk2	G	A	15: 91,620,864 (GRCm39)		probably null	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Msrb3	A	G	10: 120,687,913 (GRCm39)	V54A	probably damaging	Het
Muc21	A	T	17: 35,933,416 (GRCm39)		probably benign	Het
Ncoa3	T	A	2: 165,901,097 (GRCm39)	N896K	possibly damaging	Het
Ncor2	G	A	5: 125,111,476 (GRCm39)	T1314I	probably damaging	Het
Nes	A	G	3: 87,885,821 (GRCm39)	Q1316R	possibly damaging	Het
Nfe2l3	A	C	6: 51,434,295 (GRCm39)	Q285P	probably damaging	Het
Nkd1	C	T	8: 89,318,745 (GRCm39)	H357Y	probably damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Or10ak11	T	C	4: 118,687,223 (GRCm39)	N139S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or5b3	T	C	19: 13,388,143 (GRCm39)	V70A	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,314,182 (GRCm39)	M1K	probably null	Het
Otx1	G	T	11: 21,948,482 (GRCm39)	T46K	probably damaging	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Pcdhb16	T	A	18: 37,611,952 (GRCm39)	L304*	probably null	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Ppp1r12b	A	G	1: 134,820,008 (GRCm39)	V245A	probably damaging	Het
Ppp2r2d	A	G	7: 138,470,196 (GRCm39)	D19G	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Rimbp3	G	A	16: 17,028,291 (GRCm39)	V572I	probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Syngr3	T	C	17: 24,906,680 (GRCm39)	N45S	probably benign	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Usf2	T	C	7: 30,655,663 (GRCm39)	T1A	probably null	Het
Vill	A	T	9: 118,887,560 (GRCm39)	H108L	probably benign	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,231,133 (GRCm39)	E487K	probably damaging	Het
Zfp24	AC	A	18: 24,147,476 (GRCm39)		probably null	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
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'- CAGTGGACTGGTTTCCTGTC -3'
(R):5'- TTCCAGCAATGAGGGATGGG -3'

Sequencing Primer
(F):5'- CTTCCGAGACCTTGTCAACATTGG -3'
(R):5'- CTGGGTGGAATGAAGCCC -3'

Posted On

2014-08-01