Incidental Mutation 'IGL02798:Obox2'
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ID360035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Obox2
Ensembl Gene ENSMUSG00000074369
Gene Nameoocyte specific homeobox 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.769) question?
Stock #IGL02798
Quality Score
Status
Chromosome7
Chromosomal Location15388721-15398545 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 15396882 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 13 (V13A)
Ref Sequence ENSEMBL: ENSMUSP00000134275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036575] [ENSMUST00000172478] [ENSMUST00000174076] [ENSMUST00000174305] [ENSMUST00000181001]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036575
AA Change: V13A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042995
Gene: ENSMUSG00000074369
AA Change: V13A

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000172478
AA Change: V13A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133450
Gene: ENSMUSG00000074369
AA Change: V13A

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174076
AA Change: V13A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133793
Gene: ENSMUSG00000074369
AA Change: V13A

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174305
AA Change: V13A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134275
Gene: ENSMUSG00000074369
AA Change: V13A

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000181001
SMART Domains Protein: ENSMUSP00000138010
Gene: ENSMUSG00000054310

DomainStartEndE-ValueType
HOX 94 156 2.18e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,040,275 C514S probably damaging Het
Alcam A G 16: 52,305,639 I105T probably damaging Het
Arhgef10l A T 4: 140,565,130 probably null Het
Arhgef17 A G 7: 100,929,626 V705A probably benign Het
C87436 T A 6: 86,446,202 C253S probably benign Het
Cbx7 T C 15: 79,918,399 T226A probably damaging Het
Cdh20 T C 1: 104,947,465 I324T probably damaging Het
Celsr3 A T 9: 108,843,575 H2608L probably damaging Het
Cramp1l A G 17: 24,968,920 probably benign Het
Ddx25 A G 9: 35,551,397 C231R probably damaging Het
Emilin2 A G 17: 71,256,695 probably benign Het
Fam46a A T 9: 85,324,884 V287E probably damaging Het
Hip1r T C 5: 123,994,712 probably benign Het
Insrr C T 3: 87,810,517 P842S probably damaging Het
Lama1 G T 17: 67,795,191 probably benign Het
Lig3 T C 11: 82,795,705 probably benign Het
Lrp4 C A 2: 91,476,710 T392K probably benign Het
Msl2 G T 9: 101,075,377 R33S probably benign Het
Nrde2 T A 12: 100,143,822 K317* probably null Het
Nub1 C A 5: 24,692,814 A42D probably damaging Het
Olfr1341 T C 4: 118,709,499 F31L probably damaging Het
Olfr202 A T 16: 59,284,115 C127* probably null Het
Olfr729 T A 14: 50,148,378 K165N probably benign Het
Phkb T C 8: 86,043,777 Y892H probably benign Het
Ptdss1 A G 13: 66,976,760 Y341C probably damaging Het
Ripor2 A T 13: 24,674,666 D147V probably damaging Het
Scn7a T C 2: 66,713,875 D424G probably benign Het
Scn9a C T 2: 66,540,559 R559Q possibly damaging Het
Sctr G A 1: 120,022,180 C33Y probably damaging Het
Sh2b2 G T 5: 136,221,963 A419E probably damaging Het
Slc22a30 A T 19: 8,370,085 M317K probably damaging Het
Slc39a4 T C 15: 76,615,182 S178G probably benign Het
Slc7a12 T A 3: 14,481,157 C121S probably damaging Het
Slmap T C 14: 26,470,378 S148G possibly damaging Het
Tktl2 A G 8: 66,513,311 K507R probably benign Het
Ttn T G 2: 76,755,863 K21841N probably damaging Het
Ugcg T C 4: 59,220,346 Y380H probably damaging Het
Zfp106 T C 2: 120,510,510 T1840A probably damaging Het
Zmynd8 T C 2: 165,852,150 probably null Het
Other mutations in Obox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1444:Obox2 UTSW 7 15397032 missense possibly damaging 0.95
R1620:Obox2 UTSW 7 15397041 missense probably benign 0.36
R1993:Obox2 UTSW 7 15397249 missense probably benign 0.00
R2394:Obox2 UTSW 7 15397010 missense possibly damaging 0.93
R2397:Obox2 UTSW 7 15397046 missense probably benign 0.02
R3702:Obox2 UTSW 7 15396957 missense probably benign 0.03
R4926:Obox2 UTSW 7 15397177 splice site probably null
R6878:Obox2 UTSW 7 15397320 missense probably benign 0.02
R7373:Obox2 UTSW 7 15397220 nonsense probably null
R7483:Obox2 UTSW 7 15397316 missense probably damaging 0.97
Z1088:Obox2 UTSW 7 15397338 missense possibly damaging 0.94
Posted On2015-12-18