Incidental Mutation 'R5569:Tmem43'
ID 435527
Institutional Source Beutler Lab
Gene Symbol Tmem43
Ensembl Gene ENSMUSG00000030095
Gene Name transmembrane protein 43
Synonyms LUMA, 1200015A22Rik
MMRRC Submission 043126-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5569 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 91450689-91465445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91454336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 41 (M41K)
Ref Sequence ENSEMBL: ENSMUSP00000032183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032183] [ENSMUST00000040835]
AlphaFold Q9DBS1
Predicted Effect probably benign
Transcript: ENSMUST00000032183
AA Change: M41K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: M41K

DomainStartEndE-ValueType
transmembrane domain 32 51 N/A INTRINSIC
Pfam:DUF1625 121 373 3.6e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040835
SMART Domains Protein: ENSMUSP00000041380
Gene: ENSMUSG00000034203

DomainStartEndE-ValueType
Pfam:CHCH 64 100 8.4e-12 PFAM
low complexity region 109 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205954
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,764,143 (GRCm39) S929P probably damaging Het
Ackr3 A G 1: 90,142,563 (GRCm39) T341A probably benign Het
Acox3 A G 5: 35,760,377 (GRCm39) Y431C probably damaging Het
Adamtsl2 G A 2: 26,992,845 (GRCm39) V653M probably damaging Het
Anks6 T C 4: 47,045,007 (GRCm39) K300E probably damaging Het
Ap5z1 A T 5: 142,460,206 (GRCm39) D495V probably damaging Het
Atm A T 9: 53,427,750 (GRCm39) Y453* probably null Het
Atpaf2 A T 11: 60,307,706 (GRCm39) W11R probably damaging Het
Bhmt1b A C 18: 87,775,392 (GRCm39) Y305S probably damaging Het
Capn1 T A 19: 6,063,690 (GRCm39) T129S probably benign Het
Catspere2 A T 1: 177,939,162 (GRCm39) K678N possibly damaging Het
Cdh17 A G 4: 11,816,990 (GRCm39) I800M probably damaging Het
Cfap206 C T 4: 34,724,892 (GRCm39) R69Q probably damaging Het
Cp T C 3: 20,033,041 (GRCm39) Y623H probably damaging Het
Dcaf5 A T 12: 80,386,975 (GRCm39) Y384N probably damaging Het
Dhx9 A T 1: 153,342,838 (GRCm39) C555S possibly damaging Het
Dlg2 A G 7: 91,617,388 (GRCm39) T317A probably benign Het
Dsp C T 13: 38,376,628 (GRCm39) T1471I probably benign Het
Ebf1 A G 11: 44,883,228 (GRCm39) M489V possibly damaging Het
Enpp3 T C 10: 24,654,719 (GRCm39) D230G probably damaging Het
Eri3 T C 4: 117,506,553 (GRCm39) M294T possibly damaging Het
Fat1 T A 8: 45,492,873 (GRCm39) V3842E probably damaging Het
Fermt1 T A 2: 132,757,123 (GRCm39) Y569F possibly damaging Het
Fscn1 A G 5: 142,946,799 (GRCm39) D199G probably benign Het
Glce A G 9: 61,977,485 (GRCm39) V133A probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hk1 A G 10: 62,122,220 (GRCm39) S520P probably benign Het
Ighv12-3 A G 12: 114,330,555 (GRCm39) V7A probably benign Het
Ighv6-7 C A 12: 114,419,476 (GRCm39) A43S probably damaging Het
Inf2 A G 12: 112,568,113 (GRCm39) I222V possibly damaging Het
Kmo T A 1: 175,482,688 (GRCm39) N337K probably benign Het
Mcf2l C T 8: 13,055,481 (GRCm39) R611W probably damaging Het
Mipep A T 14: 61,040,383 (GRCm39) H301L probably damaging Het
Mprip A T 11: 59,651,789 (GRCm39) E1831V probably damaging Het
Mrgpra3 T C 7: 47,239,759 (GRCm39) T56A probably benign Het
Mtmr14 G A 6: 113,217,246 (GRCm39) V53I probably damaging Het
Mycbp2 A T 14: 103,372,679 (GRCm39) W4056R probably damaging Het
Myl2 A T 5: 122,244,783 (GRCm39) D151V possibly damaging Het
Myo5c A T 9: 75,180,792 (GRCm39) D727V probably damaging Het
Or10s1 A G 9: 39,985,593 (GRCm39) M1V probably null Het
Or1e22 A T 11: 73,377,518 (GRCm39) I44N probably damaging Het
Or2ag12 A T 7: 106,277,690 (GRCm39) M1K probably null Het
Or56b1b T A 7: 108,164,772 (GRCm39) M77L probably benign Het
Or9s18 A G 13: 65,300,793 (GRCm39) T252A possibly damaging Het
Pabpc1l C T 2: 163,885,474 (GRCm39) T409I probably benign Het
Pcgf1 C T 6: 83,056,686 (GRCm39) R81* probably null Het
Pcgf2 A G 11: 97,583,193 (GRCm39) probably null Het
Phf14 T A 6: 11,934,015 (GRCm39) N292K probably damaging Het
Plin4 T C 17: 56,409,147 (GRCm39) T1358A probably benign Het
Pomgnt1 T C 4: 116,013,164 (GRCm39) S423P probably damaging Het
Prep G A 10: 44,973,533 (GRCm39) V214I probably benign Het
Ptger1 T C 8: 84,394,961 (GRCm39) probably null Het
Pus7 C T 5: 23,953,832 (GRCm39) G415D probably benign Het
Rbm44 C T 1: 91,096,460 (GRCm39) P940S probably damaging Het
Ripor1 A T 8: 106,344,147 (GRCm39) D427V probably damaging Het
Rp1 A G 1: 4,415,460 (GRCm39) I1884T probably damaging Het
Rpl15-ps6 T C 15: 52,341,624 (GRCm39) noncoding transcript Het
Serinc2 T C 4: 130,172,272 (GRCm39) R7G probably benign Het
Serpina6 A C 12: 103,620,719 (GRCm39) F10C possibly damaging Het
Skint5 T A 4: 113,545,903 (GRCm39) probably null Het
Slc66a3 T A 12: 17,045,629 (GRCm39) I114F possibly damaging Het
Slc6a4 A T 11: 76,914,081 (GRCm39) I544F possibly damaging Het
Spdye4b T C 5: 143,188,176 (GRCm39) M223T probably benign Het
Tbc1d17 A T 7: 44,497,755 (GRCm39) V39D probably damaging Het
Thbs3 T A 3: 89,126,770 (GRCm39) Y295N probably damaging Het
Themis G A 10: 28,657,887 (GRCm39) E152K possibly damaging Het
Tmem131 A T 1: 36,838,419 (GRCm39) I1502N probably benign Het
Tmprss6 A C 15: 78,324,503 (GRCm39) W771G probably damaging Het
Trp53tg5 T C 2: 164,313,256 (GRCm39) T140A probably benign Het
Uchl1 A G 5: 66,844,216 (GRCm39) E206G probably damaging Het
Vash2 A G 1: 190,692,488 (GRCm39) V229A possibly damaging Het
Vmn1r192 C A 13: 22,371,384 (GRCm39) A279S possibly damaging Het
Vmn1r32 T C 6: 66,530,156 (GRCm39) R207G probably damaging Het
Vmn2r14 T A 5: 109,368,261 (GRCm39) M244L probably benign Het
Vwa5b2 T A 16: 20,414,089 (GRCm39) H236Q probably damaging Het
Zfp652 C T 11: 95,640,116 (GRCm39) P14S probably benign Het
Zfp668 G A 7: 127,466,995 (GRCm39) R194* probably null Het
Zgrf1 G T 3: 127,354,674 (GRCm39) V98L probably benign Het
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
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
Predicted Primers PCR Primer
(F):5'- TTCTGGGAATCTCCTTGCAC -3'
(R):5'- TGAGACATGGCTGTTAAACCG -3'

Sequencing Primer
(F):5'- TGGGAATCTCCTTGCACATCAAAATC -3'
(R):5'- ACTGGAAATGCTGGGTCCATATC -3'
Posted On 2016-10-24