Incidental Mutation 'R8825:Obox3'
ID 673381
Institutional Source Beutler Lab
Gene Symbol Obox3
Ensembl Gene ENSMUSG00000066772
Gene Name oocyte specific homeobox 3
Synonyms Ohx
MMRRC Submission 068728-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R8825 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 15359231-15373702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15361226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 13 (V13E)
Ref Sequence ENSEMBL: ENSMUSP00000092842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086122] [ENSMUST00000095217] [ENSMUST00000173395] [ENSMUST00000173912] [ENSMUST00000174151] [ENSMUST00000174443] [ENSMUST00000174842]
AlphaFold Q3UT54
Predicted Effect possibly damaging
Transcript: ENSMUST00000086122
AA Change: V13E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: V13E

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000095217
AA Change: V13E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: V13E

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173395
AA Change: V13E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772
AA Change: V13E

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173912
AA Change: V13E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: V13E

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772
AA Change: V13E

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000174443
AA Change: V13E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: V13E

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000174842
AA Change: V13E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772
AA Change: V13E

DomainStartEndE-ValueType
HOX 94 151 1.46e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap2 T A 2: 91,103,906 (GRCm39) L334Q probably damaging Het
Arhgef18 T A 8: 3,436,951 (GRCm39) L247Q probably damaging Het
Birc6 T A 17: 74,920,500 (GRCm39) C2100S probably damaging Het
Bpi A G 2: 158,109,670 (GRCm39) D206G probably benign Het
C6 T C 15: 4,761,170 (GRCm39) I10T possibly damaging Het
Cactin A G 10: 81,161,492 (GRCm39) T675A probably damaging Het
Cd200 G A 16: 45,215,157 (GRCm39) R165C probably benign Het
Cdkal1 C T 13: 29,538,777 (GRCm39) V461I probably benign Het
Ces2g C T 8: 105,693,954 (GRCm39) S430F probably benign Het
Clcn3 A T 8: 61,382,522 (GRCm39) H382Q probably damaging Het
Crem A T 18: 3,268,061 (GRCm39) V89E probably damaging Het
Crtc2 T A 3: 90,166,463 (GRCm39) M146K probably benign Het
Depdc1b T G 13: 108,521,316 (GRCm39) D374E possibly damaging Het
Dgkg T A 16: 22,381,519 (GRCm39) H477L probably benign Het
Dnhd1 T A 7: 105,343,174 (GRCm39) V1506D possibly damaging Het
Erfl A G 7: 24,628,682 (GRCm39) V60A possibly damaging Het
Exosc10 G A 4: 148,653,159 (GRCm39) probably null Het
Fem1al T C 11: 29,773,696 (GRCm39) E587G probably benign Het
Flnb G T 14: 7,887,566 (GRCm38) G459C probably damaging Het
Golgb1 A G 16: 36,739,809 (GRCm39) D2757G probably benign Het
Gsta4 T G 9: 78,116,121 (GRCm39) probably benign Het
Herc2 T A 7: 55,700,626 (GRCm39) M1K probably null Het
Hip1 C T 5: 135,450,976 (GRCm39) V879M probably damaging Het
Htt T C 5: 34,983,304 (GRCm39) Y968H probably benign Het
Ints11 T A 4: 155,969,587 (GRCm39) Y154* probably null Het
Itih5 A G 2: 10,195,231 (GRCm39) S208G probably benign Het
Lamb2 C T 9: 108,362,460 (GRCm39) T701I probably benign Het
Lgals3 T A 14: 47,617,557 (GRCm39) Y22* probably null Het
Macc1 T A 12: 119,409,587 (GRCm39) D118E probably benign Het
Mad2l2 T C 4: 148,225,277 (GRCm39) L9P probably damaging Het
Mark2 T C 19: 7,318,571 (GRCm39) T6A probably benign Het
Mcat T C 15: 83,436,812 (GRCm39) N143S probably benign Het
Med10 T G 13: 69,962,046 (GRCm39) C144G unknown Het
Miga1 A T 3: 151,982,460 (GRCm39) F539I probably damaging Het
Mon2 A T 10: 122,849,776 (GRCm39) S1174T probably benign Het
Mycbp2 C A 14: 103,466,871 (GRCm39) W1330C probably damaging Het
Myo5b T C 18: 74,892,169 (GRCm39) S1612P possibly damaging Het
Nipal4 T C 11: 46,052,873 (GRCm39) I31V probably benign Het
Or2ag19 A T 7: 106,444,636 (GRCm39) I273F probably damaging Het
Or8g4 T C 9: 39,661,994 (GRCm39) F104S probably damaging Het
Ppic A G 18: 53,542,222 (GRCm39) V162A probably damaging Het
Prkg2 T C 5: 99,090,043 (GRCm39) K699R probably benign Het
Prl2c2 T A 13: 13,179,656 (GRCm39) L6F possibly damaging Het
Rnf148 G C 6: 23,654,378 (GRCm39) S206C probably benign Het
Sec16a A G 2: 26,313,586 (GRCm39) S474P Het
Sema5a T G 15: 32,689,498 (GRCm39) H1054Q probably benign Het
Slc6a18 C A 13: 73,813,751 (GRCm39) V521F probably null Het
Stat2 T A 10: 128,127,233 (GRCm39) D921E possibly damaging Het
Tcf24 G T 1: 10,031,224 (GRCm39) N42K unknown Het
Tgfb2 T A 1: 186,361,136 (GRCm39) N372Y probably damaging Het
Tktl2 A C 8: 66,966,319 (GRCm39) M626L possibly damaging Het
Tmem94 A G 11: 115,688,201 (GRCm39) D1220G probably benign Het
Trcg1 A G 9: 57,148,754 (GRCm39) T109A probably benign Het
Trim30a T A 7: 104,060,529 (GRCm39) K416* probably null Het
Trpm5 T C 7: 142,636,753 (GRCm39) K395E possibly damaging Het
Ufm1 T A 3: 53,771,093 (GRCm39) probably null Het
Unc13b T A 4: 43,237,683 (GRCm39) probably benign Het
Vmn2r16 T C 5: 109,487,019 (GRCm39) V80A probably benign Het
Vmn2r77 A T 7: 86,452,855 (GRCm39) Y524F probably benign Het
Zfp1007 T G 5: 109,826,746 (GRCm39) T5P probably damaging Het
Zfp64 T C 2: 168,793,552 (GRCm39) S65G probably benign Het
Zng1 A G 19: 24,926,601 (GRCm39) V150A probably benign 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
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
Z1176:Obox3 UTSW 7 15,360,149 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AGGGCCCATTAAAGCACCTG -3'
(R):5'- CCTGATGGATTCCTGCTCTAAAATG -3'

Sequencing Primer
(F):5'- AAGCACCTGGTTGCATTTGGATAC -3'
(R):5'- TGTCCACAACAAATGCTGGG -3'
Posted On 2021-07-15