Incidental Mutation 'IGL02411:Oog2'
ID 292301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oog2
Ensembl Gene ENSMUSG00000066030
Gene Name oogenesin 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02411
Quality Score
Status
Chromosome 4
Chromosomal Location 143917289-143923504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143921618 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q7TPX8
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: 64,055,459 (GRCm39) E65G probably benign Het
Abcc8 G A 7: 45,756,431 (GRCm39) R1425C probably damaging Het
Adcy3 A T 12: 4,259,407 (GRCm39) probably null Het
AI661453 T G 17: 47,778,263 (GRCm39) probably benign Het
Arhgef10 A T 8: 15,004,819 (GRCm39) Y445F probably benign Het
Atrx G T X: 104,874,587 (GRCm39) S1924R possibly damaging Het
Clca3a1 T C 3: 144,733,763 (GRCm39) T58A possibly damaging Het
Clec1b A G 6: 129,378,804 (GRCm39) Y97C probably damaging Het
Cobll1 A G 2: 64,928,084 (GRCm39) S1080P probably damaging Het
Crb1 C A 1: 139,176,213 (GRCm39) C529F probably damaging Het
Crim1 C T 17: 78,642,763 (GRCm39) R494* probably null Het
Cyp3a25 A T 5: 145,938,257 (GRCm39) probably benign Het
Dntt T A 19: 41,041,424 (GRCm39) probably null Het
Gjb1 T C X: 100,428,611 (GRCm39) C280R probably damaging Het
Glp1r T A 17: 31,143,485 (GRCm39) C174S probably damaging Het
Gm5414 A T 15: 101,536,269 (GRCm39) Y119N probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gm9796 G T 11: 95,588,756 (GRCm39) noncoding transcript Het
Gm9956 T C 10: 56,621,388 (GRCm39) F17L unknown Het
Il1rap A T 16: 26,529,366 (GRCm39) D396V probably damaging Het
Impa1 T C 3: 10,388,018 (GRCm39) K135E possibly damaging Het
Iqub G A 6: 24,449,810 (GRCm39) A685V probably damaging Het
Jade3 T C X: 20,379,063 (GRCm39) V512A probably benign Het
Kif3a C A 11: 53,461,525 (GRCm39) P57T probably damaging Het
Kndc1 G T 7: 139,501,829 (GRCm39) probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Maged2 G T X: 149,592,755 (GRCm39) D343E probably benign Het
Magi2 T C 5: 19,883,707 (GRCm39) S120P probably damaging Het
Nxph3 A T 11: 95,401,656 (GRCm39) *253R probably null Het
Pcbd2 T G 13: 55,880,764 (GRCm39) W7G probably benign Het
Pcdhb14 T G 18: 37,582,823 (GRCm39) L643R possibly damaging Het
Plch1 G T 3: 63,605,177 (GRCm39) probably null Het
Poln G T 5: 34,270,666 (GRCm39) S455* probably null Het
Ppp2r1a T C 17: 21,171,596 (GRCm39) probably benign Het
Rsu1 T G 2: 13,082,308 (GRCm39) probably benign Het
Serpina10 A T 12: 103,583,202 (GRCm39) M360K possibly damaging Het
Sox30 A T 11: 45,871,951 (GRCm39) K269* probably null Het
Thbs1 T C 2: 117,945,451 (GRCm39) V310A probably benign Het
Tie1 C A 4: 118,343,760 (GRCm39) E61* probably null Het
Tm2d1 G T 4: 98,268,911 (GRCm39) P62Q probably damaging Het
Tpp1 G T 7: 105,398,826 (GRCm39) P201Q probably damaging Het
Trim13 A G 14: 61,842,598 (GRCm39) E205G probably damaging Het
Other mutations in Oog2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Oog2 APN 4 143,921,742 (GRCm39) missense probably damaging 1.00
IGL01317:Oog2 APN 4 143,921,837 (GRCm39) missense probably benign 0.16
IGL01697:Oog2 APN 4 143,921,754 (GRCm39) missense possibly damaging 0.90
IGL02237:Oog2 APN 4 143,923,016 (GRCm39) missense possibly damaging 0.95
IGL02476:Oog2 APN 4 143,921,799 (GRCm39) missense probably benign 0.02
IGL03284:Oog2 APN 4 143,923,177 (GRCm39) unclassified probably benign
IGL03394:Oog2 APN 4 143,920,576 (GRCm39) missense probably benign 0.17
R0538:Oog2 UTSW 4 143,922,654 (GRCm39) nonsense probably null
R0892:Oog2 UTSW 4 143,923,069 (GRCm39) missense probably benign 0.00
R1024:Oog2 UTSW 4 143,922,856 (GRCm39) missense probably damaging 1.00
R4156:Oog2 UTSW 4 143,920,523 (GRCm39) intron probably benign
R4157:Oog2 UTSW 4 143,920,523 (GRCm39) intron probably benign
R4166:Oog2 UTSW 4 143,921,411 (GRCm39) missense probably damaging 1.00
R4167:Oog2 UTSW 4 143,922,782 (GRCm39) missense probably benign 0.18
R4732:Oog2 UTSW 4 143,920,511 (GRCm39) intron probably benign
R4734:Oog2 UTSW 4 143,923,021 (GRCm39) missense probably benign 0.00
R4741:Oog2 UTSW 4 143,921,715 (GRCm39) missense possibly damaging 0.94
R4909:Oog2 UTSW 4 143,921,669 (GRCm39) missense possibly damaging 0.78
R4954:Oog2 UTSW 4 143,917,302 (GRCm39) start gained probably benign
R6437:Oog2 UTSW 4 143,921,678 (GRCm39) splice site probably null
R6487:Oog2 UTSW 4 143,923,055 (GRCm39) missense possibly damaging 0.48
R6946:Oog2 UTSW 4 143,923,034 (GRCm39) missense possibly damaging 0.95
R7000:Oog2 UTSW 4 143,921,897 (GRCm39) missense probably damaging 1.00
R7167:Oog2 UTSW 4 143,921,745 (GRCm39) missense probably benign 0.04
R7303:Oog2 UTSW 4 143,921,912 (GRCm39) missense probably benign 0.04
R7399:Oog2 UTSW 4 143,921,851 (GRCm39) missense probably benign 0.01
R8004:Oog2 UTSW 4 143,920,821 (GRCm39) missense probably benign 0.00
R8141:Oog2 UTSW 4 143,920,777 (GRCm39) missense probably damaging 0.97
R8411:Oog2 UTSW 4 143,920,743 (GRCm39) missense probably damaging 1.00
R8932:Oog2 UTSW 4 143,920,685 (GRCm39) missense probably benign 0.00
R9290:Oog2 UTSW 4 143,923,015 (GRCm39) missense probably benign 0.02
R9348:Oog2 UTSW 4 143,921,789 (GRCm39) missense probably damaging 1.00
R9614:Oog2 UTSW 4 143,922,707 (GRCm39) missense probably damaging 1.00
RF009:Oog2 UTSW 4 143,921,855 (GRCm39) missense probably benign 0.36
Z1177:Oog2 UTSW 4 143,920,585 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16