Incidental Mutation 'IGL03129:Obox5'
ID410234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Obox5
Ensembl Gene ENSMUSG00000074366
Gene Nameoocyte specific homeobox 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL03129
Quality Score
Status
Chromosome7
Chromosomal Location15750131-15759800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 15758759 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 213 (L213Q)
Ref Sequence ENSEMBL: ENSMUSP00000096400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098802] [ENSMUST00000173053] [ENSMUST00000173455]
Predicted Effect probably damaging
Transcript: ENSMUST00000098802
AA Change: L213Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096400
Gene: ENSMUSG00000074366
AA Change: L213Q

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
HOX 94 156 2e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173053
SMART Domains Protein: ENSMUSP00000134618
Gene: ENSMUSG00000074366

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
HOX 94 156 2e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173455
SMART Domains Protein: ENSMUSP00000134468
Gene: ENSMUSG00000074366

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
HOX 94 156 2e-17 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,379 V403A probably damaging Het
Adpgk T C 9: 59,313,805 L298P probably damaging Het
Akap6 A T 12: 53,140,306 D1501V probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Ankhd1 T A 18: 36,658,008 Y2478* probably null Het
Col6a3 A G 1: 90,821,862 Y417H probably damaging Het
Csmd1 A G 8: 15,961,521 F2511L probably damaging Het
Dzip3 T C 16: 48,942,083 M602V possibly damaging Het
Efna2 G A 10: 80,188,512 probably null Het
Fzd8 T C 18: 9,214,270 S451P probably damaging Het
Galntl6 A T 8: 58,427,716 D134E probably damaging Het
Gm10334 T C 6: 41,443,498 N98S probably benign Het
Grid2 T C 6: 64,063,904 S277P probably damaging Het
Lcn2 A G 2: 32,387,704 V91A possibly damaging Het
Lrp1b G A 2: 41,312,466 probably benign Het
Lrrc7 T A 3: 158,161,059 Y1015F probably benign Het
Mdn1 T A 4: 32,729,994 C2779S possibly damaging Het
Nlrp10 A T 7: 108,924,911 F454Y probably damaging Het
Olfr97 T A 17: 37,232,196 Y58F probably damaging Het
Piezo2 T C 18: 63,114,972 M486V probably benign Het
Plcg1 A C 2: 160,774,526 probably null Het
Polr1b G A 2: 129,115,707 V561I probably benign Het
Polr3c A T 3: 96,719,454 probably benign Het
Prkg1 T A 19: 30,585,281 K523* probably null Het
Sema3b T A 9: 107,599,796 probably benign Het
Sp9 A G 2: 73,273,521 T140A probably benign Het
Zfp507 T C 7: 35,794,206 R471G probably damaging Het
Other mutations in Obox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Obox5 APN 7 15758591 missense possibly damaging 0.73
IGL02105:Obox5 APN 7 15758575 missense probably benign 0.10
IGL02590:Obox5 APN 7 15757592 missense possibly damaging 0.51
IGL02642:Obox5 APN 7 15758047 missense probably benign 0.01
IGL02700:Obox5 APN 7 15758963 missense possibly damaging 0.70
R0312:Obox5 UTSW 7 15757560 missense probably damaging 0.98
R0463:Obox5 UTSW 7 15757646 missense probably damaging 0.99
R0467:Obox5 UTSW 7 15758007 missense possibly damaging 0.73
R0899:Obox5 UTSW 7 15758875 missense probably benign 0.04
R1574:Obox5 UTSW 7 15758633 missense probably damaging 0.99
R1574:Obox5 UTSW 7 15758633 missense probably damaging 0.99
R2017:Obox5 UTSW 7 15758882 missense probably benign 0.02
R3711:Obox5 UTSW 7 15758788 missense probably benign 0.33
R4391:Obox5 UTSW 7 15757974 nonsense probably null
R5217:Obox5 UTSW 7 15757868 splice site probably null
R5357:Obox5 UTSW 7 15757538 start codon destroyed probably null 0.94
R5424:Obox5 UTSW 7 15758882 missense probably benign 0.09
R5559:Obox5 UTSW 7 15757597 missense probably benign 0.19
R6533:Obox5 UTSW 7 15757607 missense probably benign 0.14
R7021:Obox5 UTSW 7 15757756 splice site probably null
R7097:Obox5 UTSW 7 15758807 missense probably damaging 0.99
R7122:Obox5 UTSW 7 15758807 missense probably damaging 0.99
R7180:Obox5 UTSW 7 15757924 missense probably benign 0.00
Posted On2016-08-02