Incidental Mutation 'IGL00429:Mymk'
ID7253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mymk
Ensembl Gene ENSMUSG00000009214
Gene Namemyomaker, myoblast fusion factor
Synonyms1110002H13Rik, Tmem8c
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00429
Quality Score
Status
Chromosome2
Chromosomal Location27061636-27072179 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27062787 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 103 (Y103C)
Ref Sequence ENSEMBL: ENSMUSP00000128491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009358] [ENSMUST00000163967]
Predicted Effect probably damaging
Transcript: ENSMUST00000009358
AA Change: Y144C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000009358
Gene: ENSMUSG00000009214
AA Change: Y144C

DomainStartEndE-ValueType
Pfam:DUF3522 3 185 1.1e-48 PFAM
low complexity region 196 210 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163967
AA Change: Y103C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128491
Gene: ENSMUSG00000009214
AA Change: Y103C

DomainStartEndE-ValueType
Pfam:DUF3522 4 144 9e-41 PFAM
low complexity region 155 169 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit early postnatal lethality, paralysis, kyphosis and defective myoblast fusion and survival leading to the absence of differentiated muscle in the trunk, limb and head. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009J07Rik G A 10: 77,893,839 probably benign Het
4933411K16Rik T C 19: 42,052,544 L38P probably damaging Het
Abca1 A G 4: 53,059,255 probably null Het
Abca15 T A 7: 120,397,054 I1401N probably damaging Het
Adam3 A C 8: 24,694,278 Y569D probably damaging Het
Ap2a1 T C 7: 44,905,768 S458G probably damaging Het
Asxl3 C T 18: 22,525,223 P2097S probably benign Het
AW551984 T C 9: 39,592,849 D607G probably benign Het
Ccdc158 C A 5: 92,657,881 M338I probably benign Het
Cdh23 A G 10: 60,421,141 S735P probably damaging Het
Cdh9 T C 15: 16,828,362 V180A probably damaging Het
Cyp4a31 A T 4: 115,574,974 probably benign Het
Dus4l A G 12: 31,641,669 V180A probably benign Het
Dysf A T 6: 84,189,844 T1672S probably damaging Het
F830016B08Rik T A 18: 60,300,268 L141Q probably damaging Het
Fhod3 A G 18: 24,994,540 E313G probably damaging Het
Gm4884 A G 7: 41,044,385 T593A probably benign Het
Hist1h2bm T C 13: 21,722,140 S15P possibly damaging Het
Il18r1 G A 1: 40,498,652 E526K possibly damaging Het
Lama4 A T 10: 39,011,026 H109L possibly damaging Het
Mab21l1 A C 3: 55,783,136 Q48P probably damaging Het
Magi3 T A 3: 104,014,978 K1474N probably damaging Het
Mre11a T C 9: 14,802,813 F237L probably damaging Het
Mst1r A T 9: 107,913,250 probably benign Het
Myh2 C T 11: 67,180,790 Q478* probably null Het
Mylip C A 13: 45,408,567 P282T probably benign Het
Necab1 A T 4: 15,052,656 N107K probably damaging Het
Pclo T C 5: 14,680,739 probably benign Het
Phgdh T C 3: 98,328,315 K129E probably damaging Het
Plxna4 T C 6: 32,162,091 Y1714C probably damaging Het
Pm20d2 A G 4: 33,187,205 probably benign Het
Ppfibp2 A G 7: 107,697,594 T172A probably benign Het
Prkca T C 11: 108,343,508 T54A probably benign Het
Prlr A G 15: 10,328,324 D295G probably benign Het
Rdh12 A G 12: 79,211,402 I68V probably benign Het
Slc14a2 A G 18: 78,150,438 F850L possibly damaging Het
Smad2 A T 18: 76,298,495 S185C possibly damaging Het
Soga1 A C 2: 157,030,864 F909C probably damaging Het
Trav13n-4 T A 14: 53,363,831 L19Q probably benign Het
Ush2a T A 1: 188,400,114 C844* probably null Het
Vwce T A 19: 10,664,511 probably null Het
Wdr95 T C 5: 149,595,244 probably benign Het
Zfp143 T C 7: 110,091,772 I510T probably damaging Het
Zfp930 G T 8: 69,227,982 K90N probably damaging Het
Other mutations in Mymk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01947:Mymk APN 2 27066394 missense possibly damaging 0.93
R0173:Mymk UTSW 2 27062250 missense probably damaging 1.00
R0322:Mymk UTSW 2 27067406 missense probably damaging 1.00
R1686:Mymk UTSW 2 27062334 missense probably damaging 1.00
R4583:Mymk UTSW 2 27062280 missense probably benign 0.01
R4610:Mymk UTSW 2 27062707 missense probably damaging 1.00
R5147:Mymk UTSW 2 27062287 missense probably benign 0.14
R5220:Mymk UTSW 2 27062214 missense probably benign 0.00
R5237:Mymk UTSW 2 27062188 makesense probably null
R6189:Mymk UTSW 2 27067365 missense possibly damaging 0.53
R6610:Mymk UTSW 2 27067393 missense possibly damaging 0.94
R7257:Mymk UTSW 2 27067368 missense probably damaging 0.99
R7870:Mymk UTSW 2 27062286 missense probably damaging 0.96
R7953:Mymk UTSW 2 27062286 missense probably damaging 0.96
Posted On2012-04-20