Incidental Mutation 'R5516:Tmem43'
ID 431280
Institutional Source Beutler Lab
Gene Symbol Tmem43
Ensembl Gene ENSMUSG00000030095
Gene Name transmembrane protein 43
Synonyms LUMA, 1200015A22Rik
MMRRC Submission 043075-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5516 (G1)
Quality Score 97
Status Validated
Chromosome 6
Chromosomal Location 91450689-91465445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 91455192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 56 (R56L)
Ref Sequence ENSEMBL: ENSMUSP00000032183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032183] [ENSMUST00000040835]
AlphaFold Q9DBS1
Predicted Effect possibly damaging
Transcript: ENSMUST00000032183
AA Change: R56L

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: R56L

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
Meta Mutation Damage Score 0.8516 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.2%
  • 20x: 90.4%
Validation Efficiency 97% (58/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,306,901 (GRCm39) K334R probably damaging Het
Aldh1l1 A T 6: 90,573,927 (GRCm39) I809F possibly damaging Het
Bmp2k T A 5: 97,235,312 (GRCm39) probably benign Het
C1qtnf9 T A 14: 61,017,198 (GRCm39) C243S probably damaging Het
Cacna1c G A 6: 119,034,179 (GRCm39) A146V probably damaging Het
Ccdc85c A G 12: 108,174,109 (GRCm39) V353A probably damaging Het
Cd300ld2 G T 11: 114,903,270 (GRCm39) probably benign Het
Cd320 A G 17: 34,067,021 (GRCm39) Q170R possibly damaging Het
Cfap43 C T 19: 47,726,648 (GRCm39) probably null Het
Chid1 A G 7: 141,076,059 (GRCm39) S365P probably damaging Het
Chrna7 T G 7: 62,749,046 (GRCm39) T479P probably damaging Het
Clasp1 G T 1: 118,425,451 (GRCm39) R35L probably damaging Het
Cluh G A 11: 74,551,270 (GRCm39) R373H probably damaging Het
Cyp2b23 G A 7: 26,372,482 (GRCm39) R378* probably null Het
Cyp2d9 T G 15: 82,338,528 (GRCm39) N136K probably null Het
Efcab5 A T 11: 77,079,615 (GRCm39) S44T possibly damaging Het
Esrrg A T 1: 187,930,927 (GRCm39) L316F possibly damaging Het
Fam222a T C 5: 114,749,889 (GRCm39) Y362H probably damaging Het
Fat3 A G 9: 15,910,005 (GRCm39) V1999A probably damaging Het
Fes A T 7: 80,036,931 (GRCm39) M51K probably damaging Het
Fmo3 T A 1: 162,781,995 (GRCm39) K453* probably null Het
Galnt1 A G 18: 24,413,074 (GRCm39) N458S probably benign Het
Gm8888 T A 15: 96,664,855 (GRCm39) noncoding transcript Het
Gpn2 G A 4: 133,312,190 (GRCm39) probably null Het
Grm4 G A 17: 27,657,385 (GRCm39) T464I probably benign Het
Insr T A 8: 3,205,764 (GRCm39) K1342* probably null Het
Krt87 T A 15: 101,385,002 (GRCm39) K365* probably null Het
Lfng T C 5: 140,599,018 (GRCm39) L309P probably damaging Het
Lnpk T C 2: 74,378,132 (GRCm39) probably benign Het
Lrrc8e A C 8: 4,285,818 (GRCm39) D681A probably damaging Het
Lyst G A 13: 13,818,707 (GRCm39) D1326N probably benign Het
Mmp27 A G 9: 7,579,063 (GRCm39) R413G probably null Het
Nags C T 11: 102,036,773 (GRCm39) Q121* probably null Het
Nectin1 A G 9: 43,715,090 (GRCm39) E442G probably benign Het
Nek1 G C 8: 61,542,523 (GRCm39) A729P probably benign Het
Or51a24 A G 7: 103,733,444 (GRCm39) I281T possibly damaging Het
Pnp2 C T 14: 51,201,195 (GRCm39) A189V probably benign Het
Ppm1m T A 9: 106,075,138 (GRCm39) I136F probably damaging Het
Pramel21 A G 4: 143,342,253 (GRCm39) Q120R possibly damaging Het
Psg17 G T 7: 18,548,458 (GRCm39) Q438K probably benign Het
Ptprk C T 10: 28,372,926 (GRCm39) R726* probably null Het
Rab3gap2 A T 1: 184,967,684 (GRCm39) Y163F probably benign Het
Scrib A T 15: 75,934,712 (GRCm39) L627Q possibly damaging Het
Tcp1 A G 17: 13,143,221 (GRCm39) K510R probably damaging Het
Tle4 A T 19: 14,432,253 (GRCm39) I481N probably damaging Het
Trmt10a T C 3: 137,857,957 (GRCm39) I168T possibly damaging Het
Trpv1 A T 11: 73,136,809 (GRCm39) Y96F probably benign Het
Tshz3 C T 7: 36,469,775 (GRCm39) T588I probably benign Het
Ugt2b38 A G 5: 87,559,702 (GRCm39) F397L probably damaging Het
Vmn2r11 A G 5: 109,195,032 (GRCm39) S765P probably damaging Het
Zfp668 A G 7: 127,466,318 (GRCm39) F289L probably damaging Het
Zfp735 A G 11: 73,601,640 (GRCm39) T195A probably benign Het
Zscan10 A G 17: 23,828,333 (GRCm39) T182A possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGATTAGCGGGGTCTTCCTG -3'
(R):5'- GACTGAGAAGTGACCTGTCC -3'

Sequencing Primer
(F):5'- TCTTCCTGGGAAAGCAGGGATC -3'
(R):5'- ACACAGCCATGGAGGTTCTG -3'
Posted On 2016-10-05