Incidental Mutation 'IGL01148:Mymx'
ID 53140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mymx
Ensembl Gene ENSMUSG00000079471
Gene Name myomixer, myoblast fusion factor
Synonyms myomerger, minion
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL01148
Quality Score
Status
Chromosome 17
Chromosomal Location 45911897-45913028 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 45912594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113529] [ENSMUST00000166633] [ENSMUST00000168274] [ENSMUST00000169137] [ENSMUST00000169729] [ENSMUST00000171847] [ENSMUST00000178858] [ENSMUST00000208801]
AlphaFold Q2Q5T5
Predicted Effect unknown
Transcript: ENSMUST00000113529
AA Change: P2T
SMART Domains Protein: ENSMUSP00000109157
Gene: ENSMUSG00000079471
AA Change: P2T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166633
SMART Domains Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 195 1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168274
Predicted Effect unknown
Transcript: ENSMUST00000169137
AA Change: P26T
SMART Domains Protein: ENSMUSP00000126690
Gene: ENSMUSG00000079471
AA Change: P26T

DomainStartEndE-ValueType
low complexity region 23 64 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169729
SMART Domains Protein: ENSMUSP00000127343
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171847
SMART Domains Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 456 2.1e-130 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000178858
AA Change: P2T
SMART Domains Protein: ENSMUSP00000137630
Gene: ENSMUSG00000079471
AA Change: P2T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000208801
AA Change: P2T
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with cyanosis, primary atelectasis and skeletal muscle defects associated with failure of myoblast fusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,781,729 (GRCm39) C64* probably null Het
Ccng2 G A 5: 93,418,746 (GRCm39) D124N probably damaging Het
Cttnbp2 G A 6: 18,382,817 (GRCm39) P1317L probably damaging Het
Dsg1a T A 18: 20,453,982 (GRCm39) V29E probably damaging Het
Exoc6b T C 6: 84,885,208 (GRCm39) K244E probably benign Het
Fastkd5 A G 2: 130,456,605 (GRCm39) F662L probably benign Het
Fbxl18 T C 5: 142,871,580 (GRCm39) M488V probably damaging Het
Gas2l3 C T 10: 89,249,366 (GRCm39) G584D probably benign Het
Gm28042 T C 2: 119,869,519 (GRCm39) F405L possibly damaging Het
Gtf3c2 T C 5: 31,317,168 (GRCm39) K635E probably damaging Het
H2-Q2 A G 17: 35,561,654 (GRCm39) Y48C probably damaging Het
Hddc2 T C 10: 31,192,330 (GRCm39) I78T probably damaging Het
Hspg2 T A 4: 137,273,969 (GRCm39) M2708K probably benign Het
Ift88 T C 14: 57,677,189 (GRCm39) S119P probably benign Het
Mta2 T C 19: 8,925,668 (GRCm39) C388R probably damaging Het
Naga A G 15: 82,214,861 (GRCm39) Y366H possibly damaging Het
Nlrp9a A G 7: 26,257,006 (GRCm39) E208G probably damaging Het
Nr4a2 C T 2: 57,001,983 (GRCm39) V94M probably benign Het
Or4c124 G T 2: 89,156,368 (GRCm39) T52K probably benign Het
Osbpl8 G T 10: 111,112,424 (GRCm39) probably benign Het
Pitpnb T A 5: 111,486,222 (GRCm39) V42D probably damaging Het
Pitrm1 A G 13: 6,623,141 (GRCm39) R801G probably benign Het
Pthlh G A 6: 147,154,073 (GRCm39) T174M probably benign Het
Sco2 T C 15: 89,255,924 (GRCm39) I243M probably benign Het
Sema5a G A 15: 32,681,641 (GRCm39) V907M probably benign Het
Semp2l1 A G 1: 32,584,735 (GRCm39) S392P possibly damaging Het
Spata31e2 T C 1: 26,724,253 (GRCm39) E309G probably benign Het
Stac2 T A 11: 97,934,387 (GRCm39) K106* probably null Het
Tas2r105 T A 6: 131,663,815 (GRCm39) R204S probably damaging Het
Tgm5 A G 2: 120,877,156 (GRCm39) probably null Het
Trpm1 A G 7: 63,893,312 (GRCm39) I939V probably damaging Het
Ttll11 T A 2: 35,674,205 (GRCm39) N574I probably damaging Het
Zfand3 A T 17: 30,354,374 (GRCm39) T64S probably benign Het
Zfyve26 G A 12: 79,307,644 (GRCm39) H312Y probably benign Het
Other mutations in Mymx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1829:Mymx UTSW 17 45,912,759 (GRCm39) intron probably benign
R4541:Mymx UTSW 17 45,912,519 (GRCm39) frame shift probably null
R8848:Mymx UTSW 17 45,912,935 (GRCm39) critical splice donor site probably null
Posted On 2013-06-21