Incidental Mutation 'IGL03178:Obox3'
ID 412087
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 # IGL03178
Quality Score
Status
Chromosome 7
Chromosomal Location 15359231-15373702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15361202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 21 (L21P)
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: L21P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: L21P

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095217
AA Change: L21P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: L21P

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173395
AA Change: L21P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772
AA Change: L21P

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173912
AA Change: L21P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: L21P

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174151
AA Change: L21P

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772
AA Change: L21P

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174443
AA Change: L21P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: L21P

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174842
AA Change: L21P

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772
AA Change: L21P

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 A G 5: 34,771,589 (GRCm39) probably null Het
Afg2a T C 3: 37,632,932 (GRCm39) L846P probably damaging Het
Alpk1 A T 3: 127,473,870 (GRCm39) L711* probably null Het
Arfgef3 A T 10: 18,488,973 (GRCm39) W1291R probably damaging Het
Arhgef10l A G 4: 140,271,739 (GRCm39) V545A possibly damaging Het
Best3 A G 10: 116,824,684 (GRCm39) Y50C probably damaging Het
C1qtnf2 C A 11: 43,381,816 (GRCm39) D179E probably damaging Het
Cdc40 A T 10: 40,723,985 (GRCm39) S268T probably benign Het
Ces1a C T 8: 93,747,517 (GRCm39) G505R probably damaging Het
Cpd A T 11: 76,696,877 (GRCm39) N683K probably benign Het
D430041D05Rik A T 2: 104,051,556 (GRCm39) I767N probably damaging Het
Diras1 G T 10: 80,858,211 (GRCm39) F13L possibly damaging Het
Dnah7c A G 1: 46,506,525 (GRCm39) N201D probably benign Het
Dpy19l3 A T 7: 35,429,154 (GRCm39) Y9* probably null Het
Ect2 T A 3: 27,203,009 (GRCm39) I79L probably benign Het
Eif2b4 A T 5: 31,344,997 (GRCm39) I550N probably damaging Het
Enpp2 T A 15: 54,729,402 (GRCm39) M476L probably benign Het
Gm20425 A G 9: 103,087,751 (GRCm39) Y654H probably damaging Het
Gm5884 T C 6: 128,622,690 (GRCm39) noncoding transcript Het
Gtf3c6 A T 10: 40,125,718 (GRCm39) D166E probably benign Het
Gucy2c A T 6: 136,706,237 (GRCm39) probably benign Het
Inpp5b A G 4: 124,679,047 (GRCm39) T485A probably benign Het
Insrr A G 3: 87,709,848 (GRCm39) probably null Het
Lig3 T C 11: 82,680,548 (GRCm39) probably benign Het
Lmo7 T A 14: 102,166,696 (GRCm39) Y1047* probably null Het
Map4k4 A G 1: 40,025,853 (GRCm39) E281G possibly damaging Het
Mmel1 A G 4: 154,975,311 (GRCm39) T431A possibly damaging Het
Myh10 T C 11: 68,590,239 (GRCm39) V58A probably benign Het
Myo1e A T 9: 70,194,231 (GRCm39) H14L possibly damaging Het
Myo1g C T 11: 6,462,181 (GRCm39) V594M probably damaging Het
Nr4a2 G A 2: 57,000,778 (GRCm39) R226C probably damaging Het
Or2y13 A G 11: 49,414,817 (GRCm39) D89G possibly damaging Het
Pate12 T G 9: 36,344,132 (GRCm39) S38R probably benign Het
Phlpp1 T A 1: 106,320,118 (GRCm39) I1371N probably damaging Het
Pramel29 A G 4: 143,934,821 (GRCm39) probably null Het
Proser3 G A 7: 30,243,034 (GRCm39) A181V probably damaging Het
Pudp A T 18: 50,701,472 (GRCm39) L87Q probably benign Het
Siglecf T C 7: 43,008,163 (GRCm39) S559P probably damaging Het
Slc22a16 A G 10: 40,449,756 (GRCm39) H85R probably benign Het
Spata32 T C 11: 103,101,588 (GRCm39) D15G probably benign Het
Szt2 G A 4: 118,239,886 (GRCm39) A1899V unknown Het
Tomm40 C T 7: 19,435,759 (GRCm39) V324M probably damaging Het
Trgv7 C A 13: 19,362,211 (GRCm39) probably benign Het
Ttll4 C T 1: 74,719,567 (GRCm39) P25S probably damaging Het
Vps13b G T 15: 35,869,446 (GRCm39) C2650F probably damaging Het
Wdr83os T C 8: 85,807,870 (GRCm39) L40P probably damaging Het
Zfp977 T C 7: 42,232,072 (GRCm39) R64G probably damaging Het
Other mutations in Obox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01943:Obox3 APN 7 15,360,777 (GRCm39) missense probably benign 0.00
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
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 2016-08-02