Incidental Mutation 'R1574:Obox5'
ID171027
Institutional Source Beutler Lab
Gene Symbol Obox5
Ensembl Gene ENSMUSG00000074366
Gene Nameoocyte specific homeobox 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #R1574 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location15750131-15759800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 15758633 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 171 (V171A)
Ref Sequence ENSEMBL: ENSMUSP00000134618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098802] [ENSMUST00000173053] [ENSMUST00000173455]
Predicted Effect probably damaging
Transcript: ENSMUST00000098802
AA Change: V171A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096400
Gene: ENSMUSG00000074366
AA Change: V171A

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
HOX 94 156 2e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173053
AA Change: V171A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134618
Gene: ENSMUSG00000074366
AA Change: V171A

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
HOX 94 156 2e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173455
AA Change: V171A

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134468
Gene: ENSMUSG00000074366
AA Change: V171A

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
HOX 94 156 2e-17 SMART
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 96.3%
  • 10x: 84.0%
  • 20x: 52.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,787,449 N1276K probably damaging Het
Als2cl A G 9: 110,884,060 E6G probably damaging Het
Ankrd12 A T 17: 65,986,274 D721E probably benign Het
Anpep A G 7: 79,838,407 probably null Het
Apob A T 12: 7,990,839 I655L possibly damaging Het
Atp2b1 T A 10: 98,996,948 L437Q probably damaging Het
Cacna2d3 T A 14: 29,351,822 R222S probably damaging Het
Cenpf C T 1: 189,652,713 D2457N probably damaging Het
Cenpo A T 12: 4,215,433 probably null Het
Ces2b G T 8: 104,835,889 A284S probably benign Het
Clock T C 5: 76,242,832 D311G probably damaging Het
Csmd3 T C 15: 47,695,861 probably null Het
D430041D05Rik GTGATGATGATGATGATGATG GTGATGATGATGATGATG 2: 104,221,208 probably benign Het
Dbil5 A G 11: 76,218,482 M71V probably benign Het
Ddhd1 A C 14: 45,595,547 L864R probably damaging Het
Dnah11 A G 12: 118,060,317 C1900R probably damaging Het
Dnah2 A G 11: 69,514,688 V666A probably benign Het
Dnah5 T A 15: 28,252,423 M754K probably benign Het
Dnajc15 A T 14: 77,826,414 S145T probably benign Het
Drap1 A G 19: 5,424,257 F25S probably damaging Het
Fam83e G A 7: 45,726,711 E283K probably damaging Het
Fbxo48 G T 11: 16,953,368 probably benign Het
Fndc3a A T 14: 72,556,557 I892N probably damaging Het
Gcn1l1 A G 5: 115,615,552 T2321A probably benign Het
Greb1l A G 18: 10,554,997 D1681G possibly damaging Het
Hmcn2 A C 2: 31,404,887 T2563P probably damaging Het
Iqcd A T 5: 120,600,235 K39N probably damaging Het
Kank2 A G 9: 21,774,575 S668P probably damaging Het
Kcng1 T A 2: 168,269,041 N68Y probably damaging Het
Kmt5b T A 19: 3,786,633 probably null Het
Lama2 T A 10: 27,324,754 I533F possibly damaging Het
Lcmt1 T A 7: 123,402,908 I132N probably damaging Het
Mcph1 T C 8: 18,801,412 I807T probably damaging Het
Mdn1 A G 4: 32,722,315 I2366V probably benign Het
Moxd1 T C 10: 24,300,319 W558R probably damaging Het
Mtus2 A C 5: 148,076,552 K52Q probably benign Het
Myrf T C 19: 10,225,487 D141G probably damaging Het
Naca G T 10: 128,040,398 probably benign Het
Ncoa7 T C 10: 30,694,101 I249M probably damaging Het
Olfr1341 T A 4: 118,709,554 I49N probably damaging Het
Olfr1352 C A 10: 78,983,986 N32K probably damaging Het
Olfr15 T C 16: 3,839,657 I228T probably damaging Het
Olfr70 A T 4: 43,697,134 V13D possibly damaging Het
Olfr818 A G 10: 129,945,510 L69P probably damaging Het
Olfr988 A T 2: 85,353,899 V9E probably damaging Het
Parp4 A G 14: 56,602,295 T487A probably damaging Het
Pclo A G 5: 14,679,831 probably benign Het
Pcnx2 G A 8: 125,773,930 R1474C probably damaging Het
Pkd1l3 A G 8: 109,614,813 I99M unknown Het
Ruvbl1 T C 6: 88,479,154 V70A probably damaging Het
Sart1 G A 19: 5,380,259 P788L probably damaging Het
Sdk1 A G 5: 141,998,879 T740A probably benign Het
Serpinb1c T C 13: 32,888,996 D61G possibly damaging Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Slc24a5 G A 2: 125,080,862 G152S probably damaging Het
Slc6a4 A T 11: 77,019,196 I426F possibly damaging Het
Srsf4 T A 4: 131,897,695 D134E probably damaging Het
Stk33 C T 7: 109,279,820 V441I probably benign Het
Sult1c2 A G 17: 53,836,899 probably null Het
Tdpoz4 T A 3: 93,796,528 V44E probably benign Het
Tdrd6 G A 17: 43,625,624 S1511L probably damaging Het
Tmprss13 C A 9: 45,343,231 T432K probably damaging Het
Traf7 A G 17: 24,510,553 L428P probably damaging Het
Tubb1 T C 2: 174,457,422 I299T probably benign Het
Vmn1r158 A T 7: 22,790,347 W146R probably damaging Het
Vmn1r42 A G 6: 89,845,077 I170T possibly damaging Het
Vmn1r42 C T 6: 89,845,381 G69S probably damaging Het
Vmn2r116 A T 17: 23,387,089 H325L probably damaging Het
Zfp516 T A 18: 82,993,175 L1111H possibly damaging Het
Zfp61 C G 7: 24,291,210 K505N probably damaging Het
Zfp653 C A 9: 22,057,978 E331* probably null Het
Zfp949 A T 9: 88,569,777 K467* probably null Het
Other mutations in Obox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Obox5 APN 7 15758591 missense possibly damaging 0.73
IGL02105:Obox5 APN 7 15758575 missense probably benign 0.10
IGL02590:Obox5 APN 7 15757592 missense possibly damaging 0.51
IGL02642:Obox5 APN 7 15758047 missense probably benign 0.01
IGL02700:Obox5 APN 7 15758963 missense possibly damaging 0.70
IGL03129:Obox5 APN 7 15758759 missense probably damaging 0.99
R0312:Obox5 UTSW 7 15757560 missense probably damaging 0.98
R0463:Obox5 UTSW 7 15757646 missense probably damaging 0.99
R0467:Obox5 UTSW 7 15758007 missense possibly damaging 0.73
R0899:Obox5 UTSW 7 15758875 missense probably benign 0.04
R1574:Obox5 UTSW 7 15758633 missense probably damaging 0.99
R2017:Obox5 UTSW 7 15758882 missense probably benign 0.02
R3711:Obox5 UTSW 7 15758788 missense probably benign 0.33
R4391:Obox5 UTSW 7 15757974 nonsense probably null
R5217:Obox5 UTSW 7 15757868 splice site probably null
R5357:Obox5 UTSW 7 15757538 start codon destroyed probably null 0.94
R5424:Obox5 UTSW 7 15758882 missense probably benign 0.09
R5559:Obox5 UTSW 7 15757597 missense probably benign 0.19
R6533:Obox5 UTSW 7 15757607 missense probably benign 0.14
R7097:Obox5 UTSW 7 15758807 missense not run
R7122:Obox5 UTSW 7 15758807 missense not run
Predicted Primers PCR Primer
(F):5'- GAGTCTCATGCTTTCTCCTGGTGAC -3'
(R):5'- TGCTGCTGATTGACCAGAGTTCC -3'

Sequencing Primer
(F):5'- CTTTCTCCTGGTGACTTGTGAAG -3'
(R):5'- TTGACCAGAGTTCCAAGCTG -3'
Posted On2014-04-13