Incidental Mutation 'IGL02411:Oog2'
ID292301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oog2
Ensembl Gene ENSMUSG00000066030
Gene Nameoogenesin 2
Synonyms
Accession Numbers
Stock #IGL02411
Quality Score
Status
Chromosome4
Chromosomal Location144190719-144196934 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 144195048 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 194 (H194L)
Ref Sequence ENSEMBL: ENSMUSP00000115150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080405] [ENSMUST00000143978]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080405
AA Change: H176L

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079267
Gene: ENSMUSG00000066030
AA Change: H176L

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 391 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141847
Predicted Effect probably damaging
Transcript: ENSMUST00000143978
AA Change: H194L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,116 E65G probably benign Het
Abcc8 G A 7: 46,107,007 R1425C probably damaging Het
Adcy3 A T 12: 4,209,407 N895Y probably damaging Het
AI661453 T G 17: 47,467,338 L663R unknown Het
Arhgef10 A T 8: 14,954,819 Y445F probably benign Het
Atrx G T X: 105,830,981 S1924R possibly damaging Het
Clca1 T C 3: 145,028,002 T58A possibly damaging Het
Clec1b A G 6: 129,401,841 Y129C probably damaging Het
Cobll1 A G 2: 65,097,740 S1080P probably damaging Het
Crb1 C A 1: 139,248,475 C590F probably damaging Het
Crim1 C T 17: 78,335,334 R494* probably null Het
Cyp3a25 A T 5: 146,001,447 Het
Dntt T A 19: 41,052,985 probably null Het
Gjb1 T C X: 101,385,005 C280R probably damaging Het
Glp1r T A 17: 30,924,511 C174S probably damaging Het
Gm5414 A T 15: 101,627,834 Y119N probably benign Het
Gm9631 G A 11: 121,943,652 probably null Het
Gm9796 G T 11: 95,697,930 noncoding transcript Het
Gm9956 T C 10: 56,745,292 F17L unknown Het
Il1rap A T 16: 26,710,616 D396V probably damaging Het
Impa1 T C 3: 10,322,958 K135E possibly damaging Het
Iqub G A 6: 24,449,811 A685V probably damaging Het
Jade3 T C X: 20,512,824 V512A probably benign Het
Kif3a C A 11: 53,570,698 P57T probably damaging Het
Kndc1 G T 7: 139,921,913 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Maged2 G T X: 150,809,759 D343E probably benign Het
Magi2 T C 5: 19,678,709 S120P probably damaging Het
Nxph3 A T 11: 95,510,830 *253R probably null Het
Pcbd2 T G 13: 55,732,951 W40G probably benign Het
Pcdhb14 T G 18: 37,449,770 L643R possibly damaging Het
Plch1 G T 3: 63,697,756 R1576S probably damaging Het
Poln G T 5: 34,113,322 S455* probably null Het
Ppp2r1a T C 17: 20,951,334 Het
Rsu1 T G 2: 13,077,497 Het
Serpina10 A T 12: 103,616,943 M360K possibly damaging Het
Sox30 A T 11: 45,981,124 K269* probably null Het
Thbs1 T C 2: 118,114,970 V310A probably benign Het
Tie1 C A 4: 118,486,563 E61* probably null Het
Tm2d1 G T 4: 98,380,674 P62Q probably damaging Het
Tpp1 G T 7: 105,749,619 P201Q probably damaging Het
Trim13 A G 14: 61,605,149 E205G probably damaging Het
Other mutations in Oog2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Oog2 APN 4 144195172 missense probably damaging 1.00
IGL01317:Oog2 APN 4 144195267 missense probably benign 0.16
IGL01697:Oog2 APN 4 144195184 missense possibly damaging 0.90
IGL02237:Oog2 APN 4 144196446 missense possibly damaging 0.95
IGL02476:Oog2 APN 4 144195229 missense probably benign 0.02
IGL03284:Oog2 APN 4 144196607 utr 3 prime noncoding transcript
IGL03394:Oog2 APN 4 144194006 missense probably benign 0.17
R0538:Oog2 UTSW 4 144196084 nonsense probably null
R0892:Oog2 UTSW 4 144196499 missense probably benign 0.00
R1024:Oog2 UTSW 4 144196286 missense probably damaging 1.00
R4156:Oog2 UTSW 4 144193953 intron noncoding transcript
R4157:Oog2 UTSW 4 144193953 intron noncoding transcript
R4166:Oog2 UTSW 4 144194841 missense probably damaging 1.00
R4167:Oog2 UTSW 4 144196212 missense probably benign 0.18
R4732:Oog2 UTSW 4 144193941 intron noncoding transcript
R4734:Oog2 UTSW 4 144196451 missense probably benign 0.00
R4741:Oog2 UTSW 4 144195145 missense possibly damaging 0.94
R4909:Oog2 UTSW 4 144195099 missense possibly damaging 0.78
R4954:Oog2 UTSW 4 144190732 start gained noncoding transcript
Posted OnApr 16, 2015