Incidental Mutation 'IGL02450:Obox6'
ID294114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Obox6
Ensembl Gene ENSMUSG00000041583
Gene Nameoocyte specific homeobox 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02450
Quality Score
Status
Chromosome7
Chromosomal Location15833241-15839678 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 15833713 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 270 (C270R)
Ref Sequence ENSEMBL: ENSMUSP00000104153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108513]
Predicted Effect probably damaging
Transcript: ENSMUST00000108513
AA Change: C270R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104153
Gene: ENSMUSG00000041583
AA Change: C270R

DomainStartEndE-ValueType
HOX 145 207 8.52e-21 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit no detectable abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,914,762 *781W probably null Het
Adamts16 C A 13: 70,836,300 R81S probably damaging Het
Aldh1l1 A G 6: 90,569,873 D386G probably benign Het
Anxa6 G A 11: 54,994,941 R393W probably damaging Het
Bdnf G A 2: 109,723,604 V108I possibly damaging Het
Bpgm C T 6: 34,487,464 R39W probably damaging Het
Cd101 T C 3: 100,993,738 E1006G probably damaging Het
Cd109 A T 9: 78,695,850 E972V possibly damaging Het
Cdhr3 T A 12: 33,082,225 Q133L probably benign Het
Cdk5r1 C T 11: 80,477,840 A111V probably benign Het
Cnga4 A T 7: 105,405,748 I77F probably damaging Het
Egfem1 G A 3: 29,657,268 probably null Het
Fam205c A G 4: 42,874,127 S14P probably benign Het
Fbxl21 T A 13: 56,526,953 V39D possibly damaging Het
Gimap6 T C 6: 48,704,417 I94M probably benign Het
Glis1 T C 4: 107,627,529 V407A probably benign Het
Gm5784 C T 12: 19,387,969 noncoding transcript Het
Gm9839 A T 1: 32,520,883 probably benign Het
Heatr5a T A 12: 51,945,430 M566L probably benign Het
Jph1 G A 1: 17,003,977 P606S possibly damaging Het
Jup C T 11: 100,378,357 C410Y probably damaging Het
Kif23 A G 9: 61,923,957 M777T probably benign Het
Lifr G T 15: 7,190,765 D959Y probably damaging Het
Lsm1 C A 8: 25,793,778 L73I possibly damaging Het
Maneal G A 4: 124,857,135 A276V probably benign Het
Myh4 A G 11: 67,251,809 D932G probably damaging Het
Nipbl C T 15: 8,343,574 V1063M probably damaging Het
Nlrx1 A G 9: 44,253,501 V882A probably benign Het
Olfr525 A G 7: 140,323,227 H176R possibly damaging Het
Pard3b A G 1: 62,532,676 I925V possibly damaging Het
Pdhx A G 2: 103,042,249 S163P probably benign Het
Pdzrn3 T C 6: 101,354,500 D271G probably damaging Het
Plec A G 15: 76,191,315 I399T probably damaging Het
Pthlh T G 6: 147,257,168 D98A possibly damaging Het
Spock3 T A 8: 63,245,215 probably null Het
Tgtp2 C T 11: 49,059,490 G85D probably benign Het
Tmem94 A G 11: 115,793,071 D739G probably damaging Het
Washc5 G A 15: 59,332,317 R706* probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan20 G T 4: 128,586,657 D680E probably damaging Het
Other mutations in Obox6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Obox6 APN 7 15833737 missense probably damaging 0.97
IGL01981:Obox6 APN 7 15834921 missense possibly damaging 0.94
IGL02066:Obox6 APN 7 15834703 missense probably benign 0.03
IGL02070:Obox6 APN 7 15834879 missense probably damaging 1.00
R0091:Obox6 UTSW 7 15834439 missense probably benign 0.38
R0512:Obox6 UTSW 7 15833949 missense probably benign 0.42
R1686:Obox6 UTSW 7 15833825 missense probably damaging 0.99
R1727:Obox6 UTSW 7 15834577 missense probably benign 0.04
R1755:Obox6 UTSW 7 15834520 missense probably damaging 0.98
R1813:Obox6 UTSW 7 15834845 missense possibly damaging 0.65
R1896:Obox6 UTSW 7 15834845 missense possibly damaging 0.65
R2086:Obox6 UTSW 7 15833607 missense probably damaging 1.00
R4730:Obox6 UTSW 7 15834813 missense possibly damaging 0.85
R4732:Obox6 UTSW 7 15834772 missense possibly damaging 0.85
R4733:Obox6 UTSW 7 15834772 missense possibly damaging 0.85
R4790:Obox6 UTSW 7 15834577 missense possibly damaging 0.78
R5830:Obox6 UTSW 7 15834457 missense possibly damaging 0.93
R6838:Obox6 UTSW 7 15833739 missense possibly damaging 0.95
R7275:Obox6 UTSW 7 15833880 missense probably benign 0.19
R7347:Obox6 UTSW 7 15834646 missense possibly damaging 0.53
R7485:Obox6 UTSW 7 15833938 missense probably damaging 1.00
R8326:Obox6 UTSW 7 15833556 missense possibly damaging 0.95
R8438:Obox6 UTSW 7 15833928 missense probably damaging 1.00
Posted On2015-04-16