Incidental Mutation 'IGL02601:Obox3'
ID 300060
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 # IGL02601
Quality Score
Status
Chromosome 7
Chromosomal Location 15359231-15373702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15360848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 97 (E97G)
Ref Sequence ENSEMBL: ENSMUSP00000134526 (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: E97G

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: E97G

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095217
AA Change: E97G

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: E97G

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173395
AA Change: E97G

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772
AA Change: E97G

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173912
AA Change: E97G

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: E97G

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174151
AA Change: E97G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772
AA Change: E97G

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174443
AA Change: E97G

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: E97G

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174842
AA Change: E97G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772
AA Change: E97G

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably damaging Het
Other mutations in Obox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01943:Obox3 APN 7 15,360,777 (GRCm39) missense probably benign 0.00
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 2015-04-16