Incidental Mutation 'IGL03373:Obox3'
ID420390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Obox3
Ensembl Gene ENSMUSG00000066772
Gene Nameoocyte specific homeobox 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #IGL03373
Quality Score
Status
Chromosome7
Chromosomal Location15479825-15639902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 15625790 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 318 (V318D)
Ref Sequence ENSEMBL: ENSMUSP00000134531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086122] [ENSMUST00000095217] [ENSMUST00000173395] [ENSMUST00000173912] [ENSMUST00000174151] [ENSMUST00000174443] [ENSMUST00000174842]
Predicted Effect probably benign
Transcript: ENSMUST00000086122
AA Change: V318D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: V318D

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095217
AA Change: V318D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: V318D

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173395
SMART Domains Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173912
AA Change: V318D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: V318D

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174151
SMART Domains Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174443
AA Change: V318D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: V318D

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174842
SMART Domains Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772

DomainStartEndE-ValueType
HOX 94 151 1.46e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182148
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A T 12: 113,545,552 Y515F possibly damaging Het
Adgrv1 A G 13: 81,563,632 V1075A probably damaging Het
Alox8 T C 11: 69,186,617 T436A probably benign Het
Cdc7 T A 5: 106,972,919 probably benign Het
Cdhr1 T A 14: 37,096,300 D65V possibly damaging Het
Dnase1 A G 16: 4,039,843 E278G probably damaging Het
Eif3g A T 9: 20,894,426 probably benign Het
Flnb G A 14: 7,890,867 probably null Het
Hars2 G T 18: 36,785,945 R86L probably damaging Het
Lmod1 C T 1: 135,364,526 A373V possibly damaging Het
Mdga2 A G 12: 66,716,722 I200T probably damaging Het
Mup1 T G 4: 60,501,850 probably benign Het
Nat8f5 A C 6: 85,817,547 S144A probably benign Het
Ndnf A C 6: 65,704,288 Y517S possibly damaging Het
Nedd4l G A 18: 65,181,320 probably benign Het
Nlrp4g A T 9: 124,349,853 noncoding transcript Het
Nob1 C T 8: 107,418,046 probably benign Het
Nploc4 G A 11: 120,409,629 R326* probably null Het
Olfr1122 T C 2: 87,388,233 F176S probably damaging Het
Olfr512 G A 7: 108,714,132 V248I probably damaging Het
Pgm2 T C 4: 99,961,544 I130T probably damaging Het
Ptprk A T 10: 28,566,537 D845V probably damaging Het
Ptx4 T A 17: 25,120,899 S17T probably benign Het
Rasgrf1 T C 9: 90,017,031 probably benign Het
Rfx6 A G 10: 51,720,000 T426A probably damaging Het
Sfpq C A 4: 127,026,785 R564S possibly damaging Het
Spint2 A G 7: 29,258,209 probably benign Het
Vmn1r27 A G 6: 58,215,704 I105T probably damaging Het
Vmn1r78 T C 7: 12,153,343 S294P possibly damaging Het
Vmn2r40 T C 7: 8,920,093 D423G probably benign Het
Other mutations in Obox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01943:Obox3 APN 7 15626852 missense probably benign 0.00
IGL02601:Obox3 APN 7 15626923 missense probably damaging 0.99
IGL02978:Obox3 APN 7 15626253 missense probably benign 0.11
IGL03088:Obox3 APN 7 15627002 splice site probably benign
IGL03178:Obox3 APN 7 15627277 missense probably benign 0.12
IGL03219:Obox3 APN 7 15625878 missense probably damaging 0.99
R0119:Obox3 UTSW 7 15626327 critical splice acceptor site probably null
R1471:Obox3 UTSW 7 15626950 missense probably benign 0.01
R3916:Obox3 UTSW 7 15627226 missense probably benign 0.00
R4072:Obox3 UTSW 7 15625799 missense possibly damaging 0.92
R4073:Obox3 UTSW 7 15625799 missense possibly damaging 0.92
R4075:Obox3 UTSW 7 15625799 missense possibly damaging 0.92
R4076:Obox3 UTSW 7 15625799 missense possibly damaging 0.92
R4712:Obox3 UTSW 7 15626839 missense probably benign 0.04
R4751:Obox3 UTSW 7 15625692 critical splice donor site probably null
R4868:Obox3 UTSW 7 15627310 missense probably damaging 1.00
R5151:Obox3 UTSW 7 15626248 missense probably damaging 1.00
R5290:Obox3 UTSW 7 15626849 missense probably benign 0.03
R5399:Obox3 UTSW 7 15626288 missense probably benign 0.00
R5882:Obox3 UTSW 7 15626968 missense probably benign 0.17
R6147:Obox3 UTSW 7 15626001 missense probably damaging 0.99
R6378:Obox3 UTSW 7 15626102 missense probably benign 0.00
R7221:Obox3 UTSW 7 15626058 missense probably benign 0.01
R7314:Obox3 UTSW 7 15627154 missense possibly damaging 0.50
Posted On2016-08-02