Incidental Mutation 'IGL03105:Tmem43'
ID 418915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem43
Ensembl Gene ENSMUSG00000030095
Gene Name transmembrane protein 43
Synonyms LUMA, 1200015A22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03105
Quality Score
Status
Chromosome 6
Chromosomal Location 91450689-91465445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91457682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 188 (G188D)
Ref Sequence ENSEMBL: ENSMUSP00000032183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032183]
AlphaFold Q9DBS1
Predicted Effect probably damaging
Transcript: ENSMUST00000032183
AA Change: G188D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: G188D

DomainStartEndE-ValueType
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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Tmem43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Tmem43 APN 6 91,454,356 (GRCm39) missense possibly damaging 0.73
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
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
Posted On 2016-08-02