Incidental Mutation 'IGL02601:Obox3'
ID300060
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: 0.131) question?
Stock #IGL02601
Quality Score
Status
Chromosome7
Chromosomal Location15479825-15639902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 15626923 bp
ZygosityHeterozygous
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]
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: 139,307,786 V57M probably damaging Het
Agap3 A G 5: 24,483,371 K23E possibly damaging Het
Anln A T 9: 22,338,035 I132K probably damaging Het
Anxa4 T C 6: 86,760,701 T13A probably benign Het
Bdp1 A T 13: 100,098,514 Y191N possibly damaging Het
Carm1 G A 9: 21,586,908 V403M probably damaging Het
Cbx7 A G 15: 79,923,470 probably null Het
Chd8 A C 14: 52,214,300 N16K possibly damaging Het
Crtc3 A T 7: 80,592,567 D499E probably damaging Het
Cul3 A G 1: 80,271,715 probably benign Het
D430041D05Rik T C 2: 104,230,286 D1421G probably damaging Het
Fgb T A 3: 83,045,060 E167D probably benign Het
Gimap6 T A 6: 48,702,475 Q209L probably damaging Het
Gm3604 G A 13: 62,370,176 H123Y possibly damaging Het
Gm5884 A T 6: 128,645,786 noncoding transcript Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Obsl1 T C 1: 75,489,620 H1488R probably benign Het
Olfr1508 A T 14: 52,463,345 Y221* probably null Het
Olfr790 A G 10: 129,501,854 *323W probably null Het
Pak7 T A 2: 136,116,935 K78* probably null Het
Paqr9 A G 9: 95,560,824 N289S probably damaging Het
Pde3b G A 7: 114,523,342 R715H probably damaging Het
Pglyrp2 T C 17: 32,415,861 H509R probably benign Het
Pik3ap1 A C 19: 41,302,442 N550K probably benign Het
Pon3 A G 6: 5,221,671 Y320H probably damaging Het
Ptprt T A 2: 161,766,307 T690S probably benign Het
Ptprz1 T A 6: 23,000,687 D925E probably benign Het
Rag1 T C 2: 101,642,673 D708G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rbmy1b A G Y: 3,774,885 I27M probably benign Het
Rfx2 G A 17: 56,785,354 H315Y possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sis T C 3: 72,913,210 N1407S probably benign Het
Slco1c1 T A 6: 141,544,829 L261Q probably damaging Het
Sox30 T G 11: 45,984,762 L447R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssu72 A G 4: 155,705,425 N15S possibly damaging Het
Stat4 C T 1: 52,098,415 S455F probably damaging Het
Stk4 T A 2: 164,086,542 L97Q probably damaging Het
Sulf1 A T 1: 12,786,645 N40I probably damaging Het
Sympk G A 7: 19,048,869 V877I probably benign Het
Taar7b A T 10: 24,000,306 H123L probably damaging Het
Teddm1b A G 1: 153,874,616 Y57C probably damaging Het
Tep1 A T 14: 50,833,478 C2121* probably null Het
Tnfsf11 T A 14: 78,299,945 R93* probably null Het
Tspan12 A C 6: 21,835,379 probably benign Het
Tyrp1 A G 4: 80,840,775 E295G probably null Het
Vps4a T C 8: 107,043,061 I334T probably damaging Het
Zfhx3 T C 8: 108,856,830 S1110P probably damaging Het
Zfp507 A G 7: 35,791,711 S716P probably damaging Het
Other mutations in Obox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01943:Obox3 APN 7 15626852 missense probably benign 0.00
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
IGL03373:Obox3 APN 7 15625790 missense probably benign 0.01
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 On2015-04-16