Incidental Mutation 'IGL03129:Obox5'
ID 410234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Obox5
Ensembl Gene ENSMUSG00000074366
Gene Name oocyte specific homeobox 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL03129
Quality Score
Status
Chromosome 7
Chromosomal Location 15484295-15493199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15492684 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold G3X9P6
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: 99,377,238 (GRCm39) V403A probably damaging Het
Adpgk T C 9: 59,221,088 (GRCm39) L298P probably damaging Het
Akap6 A T 12: 53,187,089 (GRCm39) D1501V probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Ankhd1 T A 18: 36,791,061 (GRCm39) Y2478* probably null Het
Col6a3 A G 1: 90,749,584 (GRCm39) Y417H probably damaging Het
Csmd1 A G 8: 16,011,521 (GRCm39) F2511L probably damaging Het
Dzip3 T C 16: 48,762,446 (GRCm39) M602V possibly damaging Het
Efna2 G A 10: 80,024,346 (GRCm39) probably null Het
Fzd8 T C 18: 9,214,270 (GRCm39) S451P probably damaging Het
Galntl6 A T 8: 58,880,750 (GRCm39) D134E probably damaging Het
Grid2 T C 6: 64,040,888 (GRCm39) S277P probably damaging Het
Lcn2 A G 2: 32,277,716 (GRCm39) V91A possibly damaging Het
Lrp1b G A 2: 41,202,478 (GRCm39) probably benign Het
Lrrc7 T A 3: 157,866,696 (GRCm39) Y1015F probably benign Het
Mdn1 T A 4: 32,729,994 (GRCm39) C2779S possibly damaging Het
Nlrp10 A T 7: 108,524,118 (GRCm39) F454Y probably damaging Het
Or1o2 T A 17: 37,543,087 (GRCm39) Y58F probably damaging Het
Piezo2 T C 18: 63,248,043 (GRCm39) M486V probably benign Het
Plcg1 A C 2: 160,616,446 (GRCm39) probably null Het
Polr1b G A 2: 128,957,627 (GRCm39) V561I probably benign Het
Polr3c A T 3: 96,626,770 (GRCm39) probably benign Het
Prkg1 T A 19: 30,562,681 (GRCm39) K523* probably null Het
Prss3l T C 6: 41,420,432 (GRCm39) N98S probably benign Het
Sema3b T A 9: 107,476,995 (GRCm39) probably benign Het
Sp9 A G 2: 73,103,865 (GRCm39) T140A probably benign Het
Zfp507 T C 7: 35,493,631 (GRCm39) R471G probably damaging Het
Other mutations in Obox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Obox5 APN 7 15,492,516 (GRCm39) missense possibly damaging 0.73
IGL02105:Obox5 APN 7 15,492,500 (GRCm39) missense probably benign 0.10
IGL02590:Obox5 APN 7 15,491,517 (GRCm39) missense possibly damaging 0.51
IGL02642:Obox5 APN 7 15,491,972 (GRCm39) missense probably benign 0.01
IGL02700:Obox5 APN 7 15,492,888 (GRCm39) missense possibly damaging 0.70
R0312:Obox5 UTSW 7 15,491,485 (GRCm39) missense probably damaging 0.98
R0463:Obox5 UTSW 7 15,491,571 (GRCm39) missense probably damaging 0.99
R0467:Obox5 UTSW 7 15,491,932 (GRCm39) missense possibly damaging 0.73
R0899:Obox5 UTSW 7 15,492,800 (GRCm39) missense probably benign 0.04
R1574:Obox5 UTSW 7 15,492,558 (GRCm39) missense probably damaging 0.99
R1574:Obox5 UTSW 7 15,492,558 (GRCm39) missense probably damaging 0.99
R2017:Obox5 UTSW 7 15,492,807 (GRCm39) missense probably benign 0.02
R3711:Obox5 UTSW 7 15,492,713 (GRCm39) missense probably benign 0.33
R4391:Obox5 UTSW 7 15,491,899 (GRCm39) nonsense probably null
R5217:Obox5 UTSW 7 15,491,793 (GRCm39) splice site probably null
R5357:Obox5 UTSW 7 15,491,463 (GRCm39) start codon destroyed probably null 0.94
R5424:Obox5 UTSW 7 15,492,807 (GRCm39) missense probably benign 0.09
R5559:Obox5 UTSW 7 15,491,522 (GRCm39) missense probably benign 0.19
R6533:Obox5 UTSW 7 15,491,532 (GRCm39) missense probably benign 0.14
R7021:Obox5 UTSW 7 15,491,681 (GRCm39) splice site probably null
R7097:Obox5 UTSW 7 15,492,732 (GRCm39) missense probably damaging 0.99
R7122:Obox5 UTSW 7 15,492,732 (GRCm39) missense probably damaging 0.99
R7180:Obox5 UTSW 7 15,491,849 (GRCm39) missense probably benign 0.00
R7395:Obox5 UTSW 7 15,492,668 (GRCm39) missense probably damaging 1.00
R7398:Obox5 UTSW 7 15,492,713 (GRCm39) missense probably benign 0.33
R8111:Obox5 UTSW 7 15,492,541 (GRCm39) missense probably damaging 1.00
R9277:Obox5 UTSW 7 15,491,877 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02