Incidental Mutation 'IGL01943:Obox3'
ID 180910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Obox3
Ensembl Gene ENSMUSG00000066772
Gene Name oocyte specific homeobox 3
Synonyms Ohx
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL01943
Quality Score
Status
Chromosome 7
Chromosomal Location 15359231-15373702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15360777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 121 (E121K)
Ref Sequence ENSEMBL: ENSMUSP00000134531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086122] [ENSMUST00000095217] [ENSMUST00000173395] [ENSMUST00000173912] [ENSMUST00000174151] [ENSMUST00000174443] [ENSMUST00000174842]
AlphaFold Q3UT54
Predicted Effect probably benign
Transcript: ENSMUST00000086122
AA Change: E121K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: E121K

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095217
AA Change: E121K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: E121K

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173395
AA Change: E121K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772
AA Change: E121K

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173912
AA Change: E121K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: E121K

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174151
AA Change: E121K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772
AA Change: E121K

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174443
AA Change: E121K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: E121K

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174842
AA Change: E121K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772
AA Change: E121K

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Bcam C T 7: 19,499,423 (GRCm39) R200H probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Fmo3 C T 1: 162,794,575 (GRCm39) R165H probably benign Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Or14j1 G A 17: 38,145,944 (GRCm39) R18H probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pkd2l2 T C 18: 34,550,089 (GRCm39) F245L probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Prol1 T A 5: 88,475,820 (GRCm39) M70K probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Slco1b2 A G 6: 141,622,012 (GRCm39) D489G possibly damaging Het
Sphk2 T C 7: 45,360,148 (GRCm39) probably benign Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Tubgcp3 A G 8: 12,704,301 (GRCm39) F256S probably damaging Het
Uqcrb A T 13: 67,050,827 (GRCm39) probably null Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) probably benign Het
Other mutations in Obox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02601:Obox3 APN 7 15,360,848 (GRCm39) missense probably damaging 0.99
IGL02978:Obox3 APN 7 15,360,178 (GRCm39) missense probably benign 0.11
IGL03088:Obox3 APN 7 15,360,927 (GRCm39) splice site probably benign
IGL03178:Obox3 APN 7 15,361,202 (GRCm39) missense probably benign 0.12
IGL03219:Obox3 APN 7 15,359,803 (GRCm39) missense probably damaging 0.99
IGL03373:Obox3 APN 7 15,359,715 (GRCm39) missense probably benign 0.01
R0119:Obox3 UTSW 7 15,360,252 (GRCm39) critical splice acceptor site probably null
R1471:Obox3 UTSW 7 15,360,875 (GRCm39) missense probably benign 0.01
R3916:Obox3 UTSW 7 15,361,151 (GRCm39) missense probably benign 0.00
R4072:Obox3 UTSW 7 15,359,724 (GRCm39) missense possibly damaging 0.92
R4073:Obox3 UTSW 7 15,359,724 (GRCm39) missense possibly damaging 0.92
R4075:Obox3 UTSW 7 15,359,724 (GRCm39) missense possibly damaging 0.92
R4076:Obox3 UTSW 7 15,359,724 (GRCm39) missense possibly damaging 0.92
R4712:Obox3 UTSW 7 15,360,764 (GRCm39) missense probably benign 0.04
R4751:Obox3 UTSW 7 15,359,617 (GRCm39) critical splice donor site probably null
R4868:Obox3 UTSW 7 15,361,235 (GRCm39) missense probably damaging 1.00
R5151:Obox3 UTSW 7 15,360,173 (GRCm39) missense probably damaging 1.00
R5290:Obox3 UTSW 7 15,360,774 (GRCm39) missense probably benign 0.03
R5399:Obox3 UTSW 7 15,360,213 (GRCm39) missense probably benign 0.00
R5882:Obox3 UTSW 7 15,360,893 (GRCm39) missense probably benign 0.17
R6147:Obox3 UTSW 7 15,359,926 (GRCm39) missense probably damaging 0.99
R6378:Obox3 UTSW 7 15,360,027 (GRCm39) missense probably benign 0.00
R7221:Obox3 UTSW 7 15,359,983 (GRCm39) missense probably benign 0.01
R7314:Obox3 UTSW 7 15,361,079 (GRCm39) missense possibly damaging 0.50
R8124:Obox3 UTSW 7 15,323,874 (GRCm39) splice site probably null
R8711:Obox3 UTSW 7 15,360,148 (GRCm39) missense probably benign 0.44
R8825:Obox3 UTSW 7 15,361,226 (GRCm39) missense possibly damaging 0.94
Z1176:Obox3 UTSW 7 15,360,149 (GRCm39) missense probably benign 0.16
Posted On 2014-05-07