Incidental Mutation 'IGL03083:Mios'
ID 417946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mios
Ensembl Gene ENSMUSG00000042447
Gene Name meiosis regulator for oocyte development
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # IGL03083
Quality Score
Status
Chromosome 6
Chromosomal Location 8209222-8236274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8215156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 117 (N117K)
Ref Sequence ENSEMBL: ENSMUSP00000039301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040017]
AlphaFold Q8VE19
Predicted Effect probably damaging
Transcript: ENSMUST00000040017
AA Change: N117K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: N117K

DomainStartEndE-ValueType
Blast:WD40 49 91 2e-18 BLAST
WD40 101 146 2.05e1 SMART
WD40 174 212 3.55e1 SMART
WD40 214 252 2.45e2 SMART
WD40 256 297 6.42e-1 SMART
Blast:WD40 312 354 2e-13 BLAST
Pfam:zinc_ribbon_16 737 861 1.3e-26 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T probably benign Het
Other mutations in Mios
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Mios APN 6 8,234,363 (GRCm39) critical splice donor site probably null
IGL01365:Mios APN 6 8,216,089 (GRCm39) nonsense probably null
IGL01548:Mios APN 6 8,234,252 (GRCm39) missense possibly damaging 0.90
IGL01898:Mios APN 6 8,222,668 (GRCm39) missense probably benign 0.03
IGL02110:Mios APN 6 8,215,565 (GRCm39) missense probably damaging 1.00
IGL02308:Mios APN 6 8,231,269 (GRCm39) missense probably benign 0.06
IGL02375:Mios APN 6 8,222,598 (GRCm39) missense probably benign 0.02
IGL02452:Mios APN 6 8,222,492 (GRCm39) missense probably benign 0.01
IGL02670:Mios APN 6 8,235,378 (GRCm39) splice site probably benign
R0462:Mios UTSW 6 8,215,743 (GRCm39) missense probably benign 0.11
R0591:Mios UTSW 6 8,215,470 (GRCm39) missense possibly damaging 0.52
R1351:Mios UTSW 6 8,228,120 (GRCm39) missense possibly damaging 0.70
R1476:Mios UTSW 6 8,234,237 (GRCm39) missense probably benign 0.01
R1802:Mios UTSW 6 8,216,385 (GRCm39) nonsense probably null
R1959:Mios UTSW 6 8,215,437 (GRCm39) missense probably benign 0.17
R1964:Mios UTSW 6 8,215,798 (GRCm39) missense probably damaging 0.99
R2272:Mios UTSW 6 8,226,865 (GRCm39) missense possibly damaging 0.71
R2915:Mios UTSW 6 8,214,935 (GRCm39) missense possibly damaging 0.72
R3852:Mios UTSW 6 8,216,453 (GRCm39) missense probably benign 0.09
R3876:Mios UTSW 6 8,233,189 (GRCm39) missense probably damaging 0.98
R3948:Mios UTSW 6 8,215,496 (GRCm39) missense probably benign
R4698:Mios UTSW 6 8,228,113 (GRCm39) missense possibly damaging 0.60
R4785:Mios UTSW 6 8,222,464 (GRCm39) missense probably benign
R4789:Mios UTSW 6 8,235,429 (GRCm39) missense probably benign 0.06
R4866:Mios UTSW 6 8,214,857 (GRCm39) missense probably damaging 1.00
R4878:Mios UTSW 6 8,215,094 (GRCm39) missense probably benign 0.00
R4991:Mios UTSW 6 8,215,847 (GRCm39) missense probably benign 0.00
R5479:Mios UTSW 6 8,215,314 (GRCm39) missense probably benign 0.00
R5714:Mios UTSW 6 8,215,434 (GRCm39) missense probably damaging 0.99
R6030:Mios UTSW 6 8,215,704 (GRCm39) missense probably benign 0.11
R6030:Mios UTSW 6 8,215,704 (GRCm39) missense probably benign 0.11
R6111:Mios UTSW 6 8,214,836 (GRCm39) missense probably benign 0.01
R6455:Mios UTSW 6 8,231,239 (GRCm39) missense probably benign 0.03
R7381:Mios UTSW 6 8,216,064 (GRCm39) missense probably damaging 0.98
R8350:Mios UTSW 6 8,227,998 (GRCm39) missense probably benign 0.00
R8708:Mios UTSW 6 8,234,255 (GRCm39) missense probably benign 0.17
R8913:Mios UTSW 6 8,215,924 (GRCm39) missense probably benign
R9062:Mios UTSW 6 8,233,221 (GRCm39) missense probably benign 0.00
R9359:Mios UTSW 6 8,214,894 (GRCm39) missense probably benign 0.17
R9521:Mios UTSW 6 8,233,171 (GRCm39) missense probably benign 0.45
Posted On 2016-08-02