Incidental Mutation 'R5366:Tmem43'
ID 429332
Institutional Source Beutler Lab
Gene Symbol Tmem43
Ensembl Gene ENSMUSG00000030095
Gene Name transmembrane protein 43
Synonyms LUMA, 1200015A22Rik
MMRRC Submission 042944-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5366 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 91450689-91465445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91455240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 72 (V72A)
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: V72A

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: V72A

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 0.0891 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 100% (77/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,831,665 (GRCm39) N1229S possibly damaging Het
Adgre1 G A 17: 57,709,817 (GRCm39) C158Y probably benign Het
Ahnak T A 19: 8,994,099 (GRCm39) S5128T possibly damaging Het
Ankrd36 T A 11: 5,542,841 (GRCm39) C322* probably null Het
Ano1 T A 7: 144,207,946 (GRCm39) T113S possibly damaging Het
Apeh A T 9: 107,969,005 (GRCm39) S321T probably benign Het
Atg4d T A 9: 21,179,948 (GRCm39) V273D probably damaging Het
Cacna2d4 A G 6: 119,251,279 (GRCm39) D489G probably damaging Het
Cd47 T C 16: 49,716,736 (GRCm39) F256L probably damaging Het
Cd84 A T 1: 171,700,872 (GRCm39) D211V probably damaging Het
Cfap46 A G 7: 139,230,802 (GRCm39) L942P probably damaging Het
Cfh A C 1: 140,063,973 (GRCm39) C434W probably damaging Het
Chst2 T C 9: 95,287,518 (GRCm39) D276G probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Degs1 C A 1: 182,106,927 (GRCm39) D111Y probably benign Het
Dhps T A 8: 85,801,413 (GRCm39) D313E probably damaging Het
Dipk1c T A 18: 84,748,720 (GRCm39) L106Q probably damaging Het
Dock9 A G 14: 121,815,615 (GRCm39) C1645R probably damaging Het
Efcab7 A C 4: 99,761,931 (GRCm39) D407A possibly damaging Het
Eif3a G T 19: 60,767,971 (GRCm39) T189N probably benign Het
Ep300 T A 15: 81,500,301 (GRCm39) L57M probably benign Het
Exoc6b T A 6: 84,867,513 (GRCm39) I300L probably benign Het
Fzd8 T C 18: 9,213,880 (GRCm39) S321P probably damaging Het
Garre1 A T 7: 33,941,713 (GRCm39) M657K possibly damaging Het
Gm9920 T A 15: 54,975,705 (GRCm39) probably benign Het
Gucy2c A G 6: 136,697,739 (GRCm39) I668T probably damaging Het
Irgc C T 7: 24,132,851 (GRCm39) probably benign Het
Jsrp1 G T 10: 80,646,030 (GRCm39) S143* probably null Het
Kctd4 T C 14: 76,200,259 (GRCm39) Y77H probably damaging Het
Klhdc1 T A 12: 69,329,924 (GRCm39) I351N probably damaging Het
Klra17 C T 6: 129,851,858 (GRCm39) E5K possibly damaging Het
Mapk8 A T 14: 33,112,686 (GRCm39) V211E probably damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mrc1 T C 2: 14,326,725 (GRCm39) Y1208H probably benign Het
Mrps16 A T 14: 20,441,523 (GRCm39) S94T probably benign Het
Muc5ac A G 7: 141,361,287 (GRCm39) T1533A probably benign Het
Myh10 A T 11: 68,651,518 (GRCm39) D287V probably damaging Het
Obscn T C 11: 58,971,086 (GRCm39) T2476A probably damaging Het
Olfm2 T A 9: 20,579,708 (GRCm39) T356S probably benign Het
Or4f60 T C 2: 111,902,823 (GRCm39) Y35C possibly damaging Het
P2rx2 T A 5: 110,489,694 (GRCm39) N108I probably damaging Het
Pbx4 A T 8: 70,322,820 (GRCm39) T309S probably benign Het
Phyhip C A 14: 70,704,295 (GRCm39) H171Q probably benign Het
Pou4f3 A G 18: 42,528,819 (GRCm39) E254G probably damaging Het
Pxdn C A 12: 30,052,899 (GRCm39) H845Q probably damaging Het
Rgcc T C 14: 79,529,123 (GRCm39) T111A probably benign Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sgsm1 C A 5: 113,398,905 (GRCm39) E722D possibly damaging Het
Soat1 A T 1: 156,272,181 (GRCm39) D101E probably benign Het
Spag5 T A 11: 78,211,152 (GRCm39) probably null Het
Spata31 A T 13: 65,068,273 (GRCm39) E140D probably damaging Het
Srrm2 T A 17: 24,037,678 (GRCm39) S1537T probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tbc1d4 G T 14: 101,845,412 (GRCm39) T162K possibly damaging Het
Tmem163 A C 1: 127,428,042 (GRCm39) probably benign Het
Tmprss11c G A 5: 86,429,993 (GRCm39) T24I possibly damaging Het
Trerf1 A T 17: 47,626,116 (GRCm39) noncoding transcript Het
Trim44 A G 2: 102,230,476 (GRCm39) L185P probably damaging Het
Tspyl1 A G 10: 34,158,341 (GRCm39) D22G possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tyro3 G A 2: 119,635,312 (GRCm39) R201Q probably damaging Het
Ubxn2a T A 12: 4,930,741 (GRCm39) K206N probably benign Het
Usp17lb G T 7: 104,489,615 (GRCm39) H436Q possibly damaging Het
Vps9d1 A G 8: 123,971,853 (GRCm39) I584T possibly damaging Het
Vrk1 T A 12: 106,022,078 (GRCm39) M131K possibly damaging Het
Wdr87-ps A C 7: 29,232,964 (GRCm39) noncoding transcript Het
Zfp827 A T 8: 79,912,333 (GRCm39) K986N possibly damaging Het
Zswim4 A G 8: 84,939,419 (GRCm39) M821T 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
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
Predicted Primers PCR Primer
(F):5'- TCCTGGGTTCTAGTCTCGAGTC -3'
(R):5'- GTTGTCATTAGCACAGGGGAAAC -3'

Sequencing Primer
(F):5'- AGTCTGCAGTTGCTAGACCTCAAC -3'
(R):5'- ACTGACTGAGAAGTGACCTGTCC -3'
Posted On 2016-09-06