Incidental Mutation 'R5656:Tmem43'
ID 442316
Institutional Source Beutler Lab
Gene Symbol Tmem43
Ensembl Gene ENSMUSG00000030095
Gene Name transmembrane protein 43
Synonyms 1200015A22Rik, LUMA
MMRRC Submission 043302-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5656 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 91473703-91488463 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91480708 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 191 (F191L)
Ref Sequence ENSEMBL: ENSMUSP00000032183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032183]
AlphaFold Q9DBS1
Predicted Effect probably benign
Transcript: ENSMUST00000032183
AA Change: F191L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: F191L

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 105,709,512 (GRCm38) S139G probably benign Het
Adrb3 T C 8: 27,227,377 (GRCm38) D348G probably damaging Het
Atg2b A G 12: 105,621,328 (GRCm38) V1959A probably benign Het
Bicral G A 17: 46,808,369 (GRCm38) T742M probably damaging Het
Bub1b T A 2: 118,605,431 (GRCm38) I60N probably damaging Het
Ccdc162 A G 10: 41,569,934 (GRCm38) V414A probably benign Het
Cd22 T G 7: 30,869,773 (GRCm38) Y612S probably damaging Het
Cd68 T A 11: 69,664,421 (GRCm38) I320F probably damaging Het
Clca3a2 A T 3: 144,797,632 (GRCm38) N852K probably benign Het
Cpa6 T A 1: 10,329,514 (GRCm38) H363L probably benign Het
Ddx18 A T 1: 121,561,358 (GRCm38) L320Q probably damaging Het
Dnah5 A G 15: 28,421,064 (GRCm38) D3849G probably benign Het
Eci1 T A 17: 24,437,309 (GRCm38) N164K probably damaging Het
Efs T C 14: 54,917,127 (GRCm38) T552A probably damaging Het
Fbp1 C A 13: 62,875,196 (GRCm38) V96L probably damaging Het
Gtf3c1 T A 7: 125,662,654 (GRCm38) N1139I probably benign Het
Gucy1b2 T C 14: 62,422,981 (GRCm38) Y152C probably damaging Het
Gxylt1 A T 15: 93,245,661 (GRCm38) L362Q probably damaging Het
Iqcd A G 5: 120,605,126 (GRCm38) probably null Het
Klhl41 T A 2: 69,683,532 (GRCm38) I585N possibly damaging Het
Map6 A G 7: 99,336,298 (GRCm38) K470E probably damaging Het
Mast3 T C 8: 70,786,221 (GRCm38) T496A probably damaging Het
Mbd6 A T 10: 127,285,286 (GRCm38) probably benign Het
Melk A G 4: 44,312,237 (GRCm38) K183R possibly damaging Het
Mta1 T C 12: 113,123,139 (GRCm38) V152A probably damaging Het
Naa35 G A 13: 59,622,866 (GRCm38) probably benign Het
Nav3 A C 10: 109,764,633 (GRCm38) S1378A probably damaging Het
Ncapd3 T A 9: 27,051,645 (GRCm38) D415E possibly damaging Het
Nlrp4f G A 13: 65,190,871 (GRCm38) R651* probably null Het
Olfr1480 A G 19: 13,530,380 (GRCm38) T280A probably benign Het
Olfr397 T A 11: 73,964,710 (GRCm38) M34K probably damaging Het
Olfr497 A G 7: 108,422,618 (GRCm38) I16V probably benign Het
P2rx7 A T 5: 122,673,717 (GRCm38) R364W probably damaging Het
Phactr2 T C 10: 13,388,703 (GRCm38) D2G probably benign Het
Phc3 G T 3: 30,965,866 (GRCm38) S28R probably damaging Het
Ppfia1 A T 7: 144,519,974 (GRCm38) probably null Het
Prdm10 C T 9: 31,353,417 (GRCm38) T667M probably benign Het
Pwwp2b T A 7: 139,255,971 (GRCm38) S443T possibly damaging Het
Pzp T C 6: 128,490,072 (GRCm38) T1113A probably damaging Het
Rapgef6 A G 11: 54,636,136 (GRCm38) E551G possibly damaging Het
Sec23ip A G 7: 128,776,784 (GRCm38) Y774C probably damaging Het
Setdb2 T C 14: 59,419,118 (GRCm38) D266G probably damaging Het
Shank1 T C 7: 44,352,886 (GRCm38) V1343A probably benign Het
Slf2 T A 19: 44,973,235 (GRCm38) D1064E probably benign Het
Slu7 A G 11: 43,443,418 (GRCm38) K424E probably benign Het
Smg1 A T 7: 118,154,664 (GRCm38) probably benign Het
Sptlc2 A T 12: 87,346,761 (GRCm38) L264Q probably damaging Het
Sra1 A G 18: 36,678,407 (GRCm38) S93P probably damaging Het
Sult1c1 T C 17: 53,964,652 (GRCm38) E169G probably benign Het
Sv2a A G 3: 96,185,572 (GRCm38) D196G probably damaging Het
Tbc1d22b A G 17: 29,594,780 (GRCm38) I362M probably damaging Het
Tenm3 T C 8: 48,228,762 (GRCm38) D2611G probably damaging Het
Trbv13-2 T A 6: 41,121,694 (GRCm38) Y68N probably benign Het
Ttn T G 2: 76,774,654 (GRCm38) D18312A possibly damaging Het
Ublcp1 A G 11: 44,465,606 (GRCm38) V95A probably damaging Het
Usp17ld A G 7: 103,250,840 (GRCm38) V295A probably damaging Het
Vmn1r29 T A 6: 58,308,167 (GRCm38) L291M possibly damaging Het
Vsig10l C T 7: 43,464,151 (GRCm38) R176* probably null Het
Zbtb46 A G 2: 181,423,417 (GRCm38) probably null Het
Zfp644 A G 5: 106,637,982 (GRCm38) V233A probably benign Het
Other mutations in Tmem43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Tmem43 APN 6 91,477,374 (GRCm38) missense possibly damaging 0.73
IGL03105:Tmem43 APN 6 91,480,700 (GRCm38) missense probably damaging 1.00
R0415:Tmem43 UTSW 6 91,482,318 (GRCm38) missense probably benign 0.13
R1388:Tmem43 UTSW 6 91,478,803 (GRCm38) splice site probably null
R1581:Tmem43 UTSW 6 91,478,735 (GRCm38) missense probably benign 0.01
R1777:Tmem43 UTSW 6 91,477,330 (GRCm38) nonsense probably null
R1895:Tmem43 UTSW 6 91,486,909 (GRCm38) missense probably benign 0.31
R1946:Tmem43 UTSW 6 91,486,909 (GRCm38) missense probably benign 0.31
R2697:Tmem43 UTSW 6 91,479,929 (GRCm38) missense possibly damaging 0.85
R4778:Tmem43 UTSW 6 91,482,255 (GRCm38) missense probably damaging 1.00
R5205:Tmem43 UTSW 6 91,486,781 (GRCm38) missense possibly damaging 0.89
R5366:Tmem43 UTSW 6 91,478,258 (GRCm38) missense probably benign 0.43
R5383:Tmem43 UTSW 6 91,473,890 (GRCm38) missense probably benign 0.00
R5516:Tmem43 UTSW 6 91,478,210 (GRCm38) missense possibly damaging 0.70
R5569:Tmem43 UTSW 6 91,477,354 (GRCm38) missense probably benign 0.01
R6490:Tmem43 UTSW 6 91,486,880 (GRCm38) missense possibly damaging 0.91
R6490:Tmem43 UTSW 6 91,478,777 (GRCm38) missense probably damaging 0.97
R7853:Tmem43 UTSW 6 91,481,986 (GRCm38) missense probably benign 0.06
R8330:Tmem43 UTSW 6 91,478,764 (GRCm38) missense possibly damaging 0.94
R8947:Tmem43 UTSW 6 91,485,380 (GRCm38) missense probably damaging 1.00
R9069:Tmem43 UTSW 6 91,486,915 (GRCm38) missense possibly damaging 0.91
R9132:Tmem43 UTSW 6 91,482,309 (GRCm38) missense probably benign 0.06
R9159:Tmem43 UTSW 6 91,482,309 (GRCm38) missense probably benign 0.06
S24628:Tmem43 UTSW 6 91,482,318 (GRCm38) missense probably benign 0.13
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-11-09