Mutagenetix > Incidental Mutation

Incidental Mutation 'R9069:Tmem43'

689425

Institutional Source

Beutler Lab

Gene Symbol

Tmem43

Ensembl Gene

ENSMUSG00000030095

Gene Name

transmembrane protein 43

Synonyms

LUMA, 1200015A22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9069 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91450689-91465445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91463897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 391 (R391W)

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

possibly damaging
Transcript: ENSMUST00000032183
AA Change: R391W

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: R391W

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (78/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,818,523 (GRCm39)	C103S	probably damaging	Het
Adamts20	T	C	15: 94,236,349 (GRCm39)	S841G	probably benign	Het
Add3	T	A	19: 53,222,332 (GRCm39)	V313E	possibly damaging	Het
Ahr	G	T	12: 35,562,771 (GRCm39)		probably benign	Het
Ankrd12	T	A	17: 66,356,874 (GRCm39)	M48L	probably benign	Het
Apaf1	A	C	10: 90,859,580 (GRCm39)		probably null	Het
Bank1	T	C	3: 135,989,772 (GRCm39)	H106R	probably benign	Het
Birc6	A	G	17: 74,868,260 (GRCm39)		probably benign	Het
Castor1	A	G	11: 4,170,141 (GRCm39)	E73G	probably benign	Het
Ccdc170	C	T	10: 4,511,016 (GRCm39)	H692Y	possibly damaging	Het
Cd93	A	G	2: 148,284,071 (GRCm39)	I425T	probably benign	Het
Celsr1	A	C	15: 85,914,772 (GRCm39)	L1067R	possibly damaging	Het
Clca3a2	A	T	3: 144,519,447 (GRCm39)		probably benign	Het
Col14a1	T	C	15: 55,251,990 (GRCm39)	S549P	unknown	Het
Col6a4	A	G	9: 105,952,138 (GRCm39)	S587P	possibly damaging	Het
Crebbp	C	A	16: 3,903,187 (GRCm39)	M2017I	probably benign	Het
Crybg1	A	C	10: 43,874,103 (GRCm39)	F1002V	probably benign	Het
Ctif	T	C	18: 75,654,458 (GRCm39)	E356G	probably damaging	Het
Dbx2	T	C	15: 95,530,239 (GRCm39)	K243E	probably damaging	Het
Dgkh	C	T	14: 78,853,957 (GRCm39)	V394I	probably damaging	Het
Dnaja4	T	A	9: 54,621,638 (GRCm39)	M321K	probably benign	Het
Dock9	T	C	14: 121,866,324 (GRCm39)	N593S	probably damaging	Het
Dot1l	T	A	10: 80,626,560 (GRCm39)	S1260R	probably damaging	Het
Eea1	A	T	10: 95,831,510 (GRCm39)	L200F	probably damaging	Het
Elp2	T	G	18: 24,765,833 (GRCm39)	F658V	probably benign	Het
Fbxw15	G	A	9: 109,394,468 (GRCm39)	Q116*	probably null	Het
Fstl5	A	T	3: 76,615,416 (GRCm39)	N826Y	probably damaging	Het
Galp	T	C	7: 6,214,347 (GRCm39)	S60P	possibly damaging	Het
Gm7298	G	T	6: 121,761,393 (GRCm39)	M1316I	probably benign	Het
Gsdmc	T	C	15: 63,649,902 (GRCm39)	M330V	probably benign	Het
Hectd2	T	C	19: 36,562,862 (GRCm39)	F175L	probably benign	Het
Hmbs	A	G	9: 44,248,102 (GRCm39)	I318T	possibly damaging	Het
Ifi205	T	C	1: 173,855,841 (GRCm39)	D63G	probably benign	Het
Il10ra	T	A	9: 45,167,396 (GRCm39)	Q387L	probably damaging	Het
Kcnj14	C	A	7: 45,469,388 (GRCm39)	G39V	probably benign	Het
Kpna1	T	C	16: 35,836,381 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,331,996 (GRCm39)	D1586E	probably damaging	Het
Lrrc45	A	G	11: 120,607,947 (GRCm39)	I243V	probably benign	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Mamdc4	G	T	2: 25,453,371 (GRCm39)	T1216N	probably damaging	Het
Map1a	A	C	2: 121,134,145 (GRCm39)	K1654Q	probably benign	Het
Mta2	G	A	19: 8,924,104 (GRCm39)	V195M	probably damaging	Het
Nav2	G	T	7: 49,208,561 (GRCm39)	R1583L	probably damaging	Het
Or2y1g	A	T	11: 49,171,247 (GRCm39)	T91S	probably benign	Het
Or4c112	A	T	2: 88,854,308 (GRCm39)	L13Q	probably damaging	Het
Or9i14	T	C	19: 13,792,735 (GRCm39)	Y73C	probably damaging	Het
Osbpl1a	T	A	18: 13,002,074 (GRCm39)		probably benign	Het
Pcdh17	T	C	14: 84,685,084 (GRCm39)	V517A	possibly damaging	Het
Pcdhb14	T	A	18: 37,583,157 (GRCm39)	C754*	probably null	Het
Pkd1	T	C	17: 24,791,988 (GRCm39)	V1225A	probably damaging	Het
Plekhm3	T	C	1: 64,960,802 (GRCm39)	N485D	probably benign	Het
Plekho1	A	C	3: 95,902,995 (GRCm39)	S14A	unknown	Het
Ppp2r3d	A	T	9: 101,090,006 (GRCm39)	C106S	probably benign	Het
Ppp6c	A	C	2: 39,094,928 (GRCm39)	L99R	probably damaging	Het
Pramel27	A	G	4: 143,578,345 (GRCm39)	S202G	probably benign	Het
Prkdc	T	A	16: 15,653,091 (GRCm39)	Y3855*	probably null	Het
Ptpru	A	T	4: 131,503,565 (GRCm39)	I1155N	possibly damaging	Het
Reln	C	T	5: 22,216,059 (GRCm39)	G1042D	probably damaging	Het
Sall4	A	G	2: 168,596,773 (GRCm39)	V689A	probably benign	Het
Sec31b	C	T	19: 44,507,741 (GRCm39)	G768S	probably damaging	Het
Serpinb10	T	A	1: 107,474,549 (GRCm39)	V237D	probably benign	Het
Serpinb9	T	G	13: 33,199,579 (GRCm39)	D291E	probably benign	Het
Slc12a7	T	G	13: 73,954,089 (GRCm39)		probably benign	Het
Slfn8	A	T	11: 82,907,902 (GRCm39)	F214I	probably damaging	Het
Slu7	A	T	11: 43,328,952 (GRCm39)	D58V	probably damaging	Het
Smu1	T	C	4: 40,745,558 (GRCm39)	Y254C	probably damaging	Het
Snapc4	A	T	2: 26,260,805 (GRCm39)	Y479*	probably null	Het
Specc1l	A	G	10: 75,066,640 (GRCm39)	N30D	probably benign	Het
Spopfm1	A	C	3: 94,173,153 (GRCm39)	S50R	possibly damaging	Het
Tbck	T	C	3: 132,428,130 (GRCm39)		probably null	Het
Tcf7l1	T	C	6: 72,610,259 (GRCm39)	Y246C	probably damaging	Het
Trav7-1	T	G	14: 52,892,566 (GRCm39)	S40A	possibly damaging	Het
Trim45	T	A	3: 100,832,440 (GRCm39)	Y224*	probably null	Het
Trio	A	T	15: 27,852,097 (GRCm39)	I798N	possibly damaging	Het
Trnau1ap	A	T	4: 132,056,662 (GRCm39)		probably null	Het
Vmn1r213	T	C	13: 23,196,043 (GRCm39)	S209P	probably damaging	Het
Ythdf1	G	T	2: 180,552,857 (GRCm39)	R453S	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
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
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'- GACTGGTTTCCTGTCTTCCGAG -3'
(R):5'- ACTTGGTTCCAGCAATGAGGG -3'

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

Posted On

2021-11-19