Incidental Mutation 'R3916:Obox3'
ID 309736
Institutional Source Beutler Lab
Gene Symbol Obox3
Ensembl Gene ENSMUSG00000066772
Gene Name oocyte specific homeobox 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R3916 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 15479825-15639902 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 15627226 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 38 (C38F)
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: C38F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: C38F

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095217
AA Change: C38F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: C38F

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173395
AA Change: C38F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772
AA Change: C38F

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173912
AA Change: C38F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: C38F

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174151
AA Change: C38F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772
AA Change: C38F

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174443
AA Change: C38F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: C38F

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174842
AA Change: C38F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772
AA Change: C38F

DomainStartEndE-ValueType
HOX 94 151 1.46e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182148
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T G 2: 68,731,985 F319V possibly damaging Het
Acad12 A G 5: 121,599,214 V498A probably damaging Het
Adam19 A G 11: 46,060,935 E37G probably benign Het
Anks3 A G 16: 4,947,279 Y423H probably damaging Het
Arfgef1 A T 1: 10,189,443 V600D probably benign Het
Arhgef18 T C 8: 3,454,197 F939L probably benign Het
Arhgef2 A G 3: 88,633,033 N127S probably damaging Het
Arid1b A G 17: 5,342,653 S2100G probably benign Het
Atp1b2 A G 11: 69,603,075 V93A probably damaging Het
Atrnl1 T C 19: 57,935,652 V1283A possibly damaging Het
Bpifb5 A C 2: 154,228,181 K184Q probably benign Het
Cadps C T 14: 12,457,702 A1060T probably benign Het
Cant1 A G 11: 118,408,746 V259A probably damaging Het
Ccdc89 A G 7: 90,426,825 D81G probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 probably benign Het
Cntnap4 C G 8: 112,875,533 P1190A probably benign Het
Colgalt2 T A 1: 152,508,611 Y567* probably null Het
Cyp4f18 A T 8: 71,996,037 F256Y probably benign Het
Ddx41 G A 13: 55,534,480 R205W possibly damaging Het
Dopey1 G A 9: 86,521,133 R1462H probably damaging Het
Dync1i2 A G 2: 71,249,372 T377A probably damaging Het
F2 G A 2: 91,625,488 T600M probably damaging Het
Fam91a1 C T 15: 58,430,734 H308Y probably damaging Het
Fkbp2 C A 19: 6,978,557 probably null Het
Gabarapl2 T A 8: 111,952,396 F115L probably benign Het
Heatr3 T G 8: 88,150,371 probably null Het
Ifi204 T G 1: 173,755,775 K292N possibly damaging Het
Itpkc A T 7: 27,228,303 I62N probably benign Het
Kcnab1 G A 3: 65,304,164 probably null Het
Krt88 G A 15: 101,452,928 probably null Het
Larp4 C T 15: 99,990,403 T107I probably benign Het
Lmo7 T C 14: 101,929,342 probably benign Het
Lrrc37a T C 11: 103,455,518 Y3174C possibly damaging Het
Lyzl4 T A 9: 121,583,035 D105V probably damaging Het
Mst1 A G 9: 108,084,295 I575V probably benign Het
Myh7 C A 14: 54,974,046 E1555D probably damaging Het
Nwd1 T A 8: 72,667,811 C608* probably null Het
P4ha2 A G 11: 54,126,248 D441G probably benign Het
Pcdhb14 A T 18: 37,448,545 I235F possibly damaging Het
Rasgrf2 A G 13: 92,030,788 V259A probably damaging Het
Scn1a T C 2: 66,277,613 T1590A probably damaging Het
Sdk1 T A 5: 142,051,244 D817E probably damaging Het
Sema3b A G 9: 107,600,458 F482S probably damaging Het
Slc35a5 G C 16: 45,158,158 probably benign Het
Slc6a3 A G 13: 73,562,308 I346V probably benign Het
Slu7 G T 11: 43,440,684 probably null Het
Spns1 A T 7: 126,371,539 probably null Het
Supv3l1 T C 10: 62,449,420 D89G possibly damaging Het
Taf1c G A 8: 119,600,505 R412W probably damaging Het
Tctn3 T A 19: 40,607,649 T305S possibly damaging Het
Tekt1 A G 11: 72,345,748 I296T possibly damaging Het
Tet2 T C 3: 133,486,055 K873E possibly damaging Het
Thada G A 17: 84,441,782 A587V possibly damaging Het
Tmprss15 T A 16: 78,985,996 N712Y probably damaging Het
Tnks A G 8: 34,853,361 S719P probably damaging Het
Tnrc6a A C 7: 123,181,384 Q1332H probably damaging Het
Trpv3 A G 11: 73,283,734 D309G possibly damaging Het
Tti2 A G 8: 31,153,519 K221E possibly damaging Het
Uba5 A T 9: 104,054,190 C227S probably damaging Het
Ugcg C T 4: 59,207,798 P46S probably benign Het
Unc80 T C 1: 66,677,495 C2925R probably benign Het
Vmn2r83 G A 10: 79,478,910 G331R probably benign Het
Xirp2 G T 2: 67,511,422 V1336F probably benign Het
Zbed5 T C 5: 129,902,277 Y356H possibly damaging 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
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
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
R8124:Obox3 UTSW 7 15589949 splice site probably null
R8711:Obox3 UTSW 7 15626223 missense probably benign 0.44
R8825:Obox3 UTSW 7 15627301 missense possibly damaging 0.94
Z1176:Obox3 UTSW 7 15626224 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TCTAATGACTTGGATGCCCCG -3'
(R):5'- ACAAATGCTGGGTAGGTGTG -3'

Sequencing Primer
(F):5'- TTGGATGCCCCGAGAGTCTTC -3'
(R):5'- ATGGGTAAATGGGTGCTCTC -3'
Posted On 2015-04-17