|Institutional Source||Beutler Lab|
|Gene Name||transmembrane protein 43|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5205 (G1)|
|Chromosomal Location||91473703-91488463 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 91486781 bp|
|Amino Acid Change||Isoleucine to Threonine at position 346 (I346T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032183 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000032183]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: I346T
PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: I346T
|Meta Mutation Damage Score||0.148|
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
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||
|Other mutations in Tmem43||
(F):5'- CACCCCGTGGTATCTTAGGTATG -3'
(R):5'- TAGATGCCTGATCCAGCTGAG -3'
(F):5'- ATGTGTGTGGCTATGTATGGCTCTAC -3'
(R):5'- AGGGAATCTGGCCTCTCAG -3'