Incidental Mutation 'IGL01148:Mymx'
ID53140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mymx
Ensembl Gene ENSMUSG00000079471
Gene Namemyomixer, myoblast fusion factor
Synonymsminion, myomerger
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #IGL01148
Quality Score
Status
Chromosome17
Chromosomal Location45600971-45602102 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 45601668 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113529] [ENSMUST00000166633] [ENSMUST00000168274] [ENSMUST00000169137] [ENSMUST00000169729] [ENSMUST00000171847] [ENSMUST00000178858] [ENSMUST00000208801]
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
4931408C20Rik T C 1: 26,685,172 E309G probably benign Het
Acap1 A T 11: 69,890,903 C64* probably null Het
Ccng2 G A 5: 93,270,887 D124N probably damaging Het
Cttnbp2 G A 6: 18,382,818 P1317L probably damaging Het
Dsg1a T A 18: 20,320,925 V29E probably damaging Het
Exoc6b T C 6: 84,908,226 K244E probably benign Het
Fastkd5 A G 2: 130,614,685 F662L probably benign Het
Fbxl18 T C 5: 142,885,825 M488V probably damaging Het
Gas2l3 C T 10: 89,413,504 G584D probably benign Het
Gm28042 T C 2: 120,039,038 F405L possibly damaging Het
Gm5415 A G 1: 32,545,654 S392P possibly damaging Het
Gtf3c2 T C 5: 31,159,824 K635E probably damaging Het
H2-Q2 A G 17: 35,342,678 Y48C probably damaging Het
Hddc2 T C 10: 31,316,334 I78T probably damaging Het
Hspg2 T A 4: 137,546,658 M2708K probably benign Het
Ift88 T C 14: 57,439,732 S119P probably benign Het
Mta2 T C 19: 8,948,304 C388R probably damaging Het
Naga A G 15: 82,330,660 Y366H possibly damaging Het
Nlrp9a A G 7: 26,557,581 E208G probably damaging Het
Nr4a2 C T 2: 57,111,971 V94M probably benign Het
Olfr1232 G T 2: 89,326,024 T52K probably benign Het
Osbpl8 G T 10: 111,276,563 probably benign Het
Pitpnb T A 5: 111,338,356 V42D probably damaging Het
Pitrm1 A G 13: 6,573,105 R801G probably benign Het
Pthlh G A 6: 147,252,575 T174M probably benign Het
Sco2 T C 15: 89,371,721 I243M probably benign Het
Sema5a G A 15: 32,681,495 V907M probably benign Het
Stac2 T A 11: 98,043,561 K106* probably null Het
Tas2r105 T A 6: 131,686,852 R204S probably damaging Het
Tgm5 A G 2: 121,046,675 probably null Het
Trpm1 A G 7: 64,243,564 I939V probably damaging Het
Ttll11 T A 2: 35,784,193 N574I probably damaging Het
Zfand3 A T 17: 30,135,400 T64S probably benign Het
Zfyve26 G A 12: 79,260,870 H312Y probably benign Het
Other mutations in Mymx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1829:Mymx UTSW 17 45601833 intron probably benign
R4541:Mymx UTSW 17 45601593 frame shift probably null
Posted On2013-06-21