Incidental Mutation 'S24628:Tmem43'
ID 385659
Institutional Source Beutler Lab
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 # S24628 () of strain waterfowl
Quality Score 222
Status Not validated
Chromosome 6
Chromosomal Location 91450689-91465445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91459300 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Proline to Glutamine at position 257 (P257Q)
Ref Sequence ENSEMBL: ENSMUSP00000032183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032183]
AlphaFold Q9DBS1
Predicted Effect probably benign
Transcript: ENSMUST00000032183
AA Change: P257Q

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: P257Q

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
Meta Mutation Damage Score 0.1186 question?
Coding Region Coverage
  • 1x: 98.1%
  • 3x: 97.0%
  • 10x: 94.3%
  • 20x: 88.0%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 G A 17: 56,159,288 (GRCm39) V658I probably benign Het
Ccdc40 T C 11: 119,122,944 (GRCm39) Y249H possibly damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Homo
Gbp4 G A 5: 105,268,972 (GRCm39) R394C possibly damaging Het
Gpr183 C A 14: 122,191,888 (GRCm39) C211F probably damaging Homo
Lcp1 A T 14: 75,464,446 (GRCm39) I556F possibly damaging Het
Letm1 G A 5: 33,904,788 (GRCm39) P513S probably benign Het
Letm1 G A 5: 33,904,790 (GRCm39) P512L probably benign Het
Msh3 A G 13: 92,483,294 (GRCm39) V283A possibly damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Npr3 C A 15: 11,848,649 (GRCm39) M439I probably benign Het
Or5m10 A T 2: 85,717,782 (GRCm39) I213F possibly damaging Het
Or5m9 A T 2: 85,877,399 (GRCm39) H191L probably benign Het
Pax5 G A 4: 44,691,886 (GRCm39) A120V probably damaging Het
Plcb1 A G 2: 135,179,419 (GRCm39) Y609C probably damaging Het
Plxna1 G A 6: 89,334,318 (GRCm39) H104Y probably benign Homo
Rnf213 A T 11: 119,305,295 (GRCm39) I509F probably damaging Het
Ryr2 T C 13: 11,884,042 (GRCm39) S213G probably damaging Homo
Spint1 A G 2: 119,076,096 (GRCm39) T231A probably damaging Het
Tbcel C A 9: 42,355,796 (GRCm39) C139F probably benign Het
Thbs2 A C 17: 14,900,235 (GRCm39) S573A probably benign Het
Tmprss13 A G 9: 45,248,430 (GRCm39) probably null Het
Tnc C T 4: 63,936,249 (GRCm39) G229D probably damaging Homo
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn1r196 T A 13: 22,478,006 (GRCm39) V215D probably damaging Homo
Vmn1r22 G T 6: 57,877,317 (GRCm39) T220K probably benign Homo
Vmn2r116 G A 17: 23,606,253 (GRCm39) M388I possibly damaging Het
Zap70 A G 1: 36,809,892 (GRCm39) M1V probably null Homo
Zfp282 A G 6: 47,874,815 (GRCm39) D340G probably damaging Homo
Zfp282 T A 6: 47,881,987 (GRCm39) I558N possibly damaging Homo
Other mutations in Tmem43
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-05-10