Incidental Mutation 'IGL02375:Mios'
ID291055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mios
Ensembl Gene ENSMUSG00000042447
Gene Namemeiosis regulator for oocyte development
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.935) question?
Stock #IGL02375
Quality Score
Status
Chromosome6
Chromosomal Location8209222-8236274 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 8222598 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 511 (F511I)
Ref Sequence ENSEMBL: ENSMUSP00000039301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040017]
Predicted Effect probably benign
Transcript: ENSMUST00000040017
AA Change: F511I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: F511I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160265
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F07Rik A G 2: 173,522,703 M14V probably benign Het
1700034J05Rik T A 6: 146,953,315 K76N possibly damaging Het
Agxt A G 1: 93,135,703 E109G probably damaging Het
Alcam T C 16: 52,288,936 T325A probably benign Het
Apol7c T C 15: 77,528,849 E67G probably damaging Het
Bco1 C A 8: 117,113,439 S232Y probably benign Het
Cacna1c A T 6: 118,675,923 V763D probably damaging Het
Ccdc15 T C 9: 37,304,332 D618G probably damaging Het
Col6a5 T C 9: 105,906,113 N1603S unknown Het
Cyp4v3 A G 8: 45,308,374 probably null Het
Eml5 A T 12: 98,844,087 V870E probably damaging Het
Epn2 A G 11: 61,519,671 V512A probably damaging Het
Fam71b G T 11: 46,406,552 V228L probably damaging Het
Farp2 A G 1: 93,576,463 R321G probably damaging Het
Gprasp1 T C X: 135,800,803 S582P probably damaging Het
Grhl2 T C 15: 37,291,577 V303A probably damaging Het
Grik1 A T 16: 87,946,556 F594L probably damaging Het
Hivep1 A G 13: 42,156,449 K722E probably benign Het
Htr5b G A 1: 121,527,835 R119C probably damaging Het
Ifit2 T C 19: 34,574,337 S426P probably benign Het
Kif13a T C 13: 46,825,222 Y234C probably damaging Het
Mtfmt T C 9: 65,439,567 W148R probably damaging Het
Myo1c C A 11: 75,661,574 T391N probably benign Het
Nlrp1a A T 11: 71,113,513 L710* probably null Het
Nlrp1b A G 11: 71,161,680 I971T probably damaging Het
Nup43 A G 10: 7,673,594 D171G probably damaging Het
Olfr1445 A G 19: 12,883,941 E20G probably benign Het
P2rx7 T C 5: 122,673,656 probably benign Het
Poli C T 18: 70,523,292 G155R probably damaging Het
Rad9b T C 5: 122,333,342 S220G possibly damaging Het
Rgn C T X: 20,550,461 S28L probably damaging Het
Tcp11l2 G A 10: 84,605,068 probably null Het
Tenm4 G A 7: 96,704,137 V379I possibly damaging Het
Thsd7a A T 6: 12,343,265 C1118S probably damaging Het
Tmem8 T A 17: 26,119,499 Y512N probably benign Het
Trpm7 A G 2: 126,825,744 Y776H probably damaging Het
Trpv4 T C 5: 114,636,357 N222S probably benign Het
Tut1 C T 19: 8,964,039 R397C probably damaging Het
Vmn1r72 T A 7: 11,669,745 T259S probably benign Het
Wdr17 A G 8: 54,696,388 S2P possibly damaging Het
Other mutations in Mios
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Mios APN 6 8234363 critical splice donor site probably null
IGL01365:Mios APN 6 8216089 nonsense probably null
IGL01548:Mios APN 6 8234252 missense possibly damaging 0.90
IGL01898:Mios APN 6 8222668 missense probably benign 0.03
IGL02110:Mios APN 6 8215565 missense probably damaging 1.00
IGL02308:Mios APN 6 8231269 missense probably benign 0.06
IGL02452:Mios APN 6 8222492 missense probably benign 0.01
IGL02670:Mios APN 6 8235378 splice site probably benign
IGL03083:Mios APN 6 8215156 missense probably damaging 1.00
R0462:Mios UTSW 6 8215743 missense probably benign 0.11
R0591:Mios UTSW 6 8215470 missense possibly damaging 0.52
R1351:Mios UTSW 6 8228120 missense possibly damaging 0.70
R1476:Mios UTSW 6 8234237 missense probably benign 0.01
R1802:Mios UTSW 6 8216385 nonsense probably null
R1959:Mios UTSW 6 8215437 missense probably benign 0.17
R1964:Mios UTSW 6 8215798 missense probably damaging 0.99
R2272:Mios UTSW 6 8226865 missense possibly damaging 0.71
R2915:Mios UTSW 6 8214935 missense possibly damaging 0.72
R3852:Mios UTSW 6 8216453 missense probably benign 0.09
R3876:Mios UTSW 6 8233189 missense probably damaging 0.98
R3948:Mios UTSW 6 8215496 missense probably benign
R4698:Mios UTSW 6 8228113 missense possibly damaging 0.60
R4785:Mios UTSW 6 8222464 missense probably benign
R4789:Mios UTSW 6 8235429 missense probably benign 0.06
R4866:Mios UTSW 6 8214857 missense probably damaging 1.00
R4878:Mios UTSW 6 8215094 missense probably benign 0.00
R4991:Mios UTSW 6 8215847 missense probably benign 0.00
R5479:Mios UTSW 6 8215314 missense probably benign 0.00
R5714:Mios UTSW 6 8215434 missense probably damaging 0.99
R6030:Mios UTSW 6 8215704 missense probably benign 0.11
R6030:Mios UTSW 6 8215704 missense probably benign 0.11
R6111:Mios UTSW 6 8214836 missense probably benign 0.01
R6455:Mios UTSW 6 8231239 missense probably benign 0.03
R7381:Mios UTSW 6 8216064 missense probably damaging 0.98
R8350:Mios UTSW 6 8227998 missense probably benign 0.00
R8708:Mios UTSW 6 8234255 missense probably benign 0.17
R8913:Mios UTSW 6 8215924 missense probably benign
Posted On2015-04-16