Incidental Mutation 'IGL02228:Ogfod1'
ID285387
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ogfod1
Ensembl Gene ENSMUSG00000033009
Gene Name2-oxoglutarate and iron-dependent oxygenase domain containing 1
Synonyms4930415J21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02228
Quality Score
Status
Chromosome8
Chromosomal Location94037198-94067921 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 94062987 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 439 (Q439K)
Ref Sequence ENSEMBL: ENSMUSP00000105183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034206] [ENSMUST00000060632] [ENSMUST00000093301] [ENSMUST00000109556]
Predicted Effect probably benign
Transcript: ENSMUST00000034206
SMART Domains Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755

DomainStartEndE-ValueType
Pfam:BBS2_N 20 161 1.4e-62 PFAM
Pfam:BBS2_Mid 162 272 6.9e-50 PFAM
Pfam:BBS2_C 276 715 2.6e-193 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060632
AA Change: Q424K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
AA Change: Q424K

DomainStartEndE-ValueType
P4Hc 46 223 4.87e-26 SMART
Pfam:Ofd1_CTDD 246 513 1.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093301
AA Change: Q396K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
AA Change: Q396K

DomainStartEndE-ValueType
P4Hc 61 228 2.6e-12 SMART
low complexity region 328 353 N/A INTRINSIC
low complexity region 375 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109556
AA Change: Q439K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
AA Change: Q439K

DomainStartEndE-ValueType
P4Hc 61 238 4.87e-26 SMART
Pfam:Ofd1_CTDD 261 528 7.2e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,016,964 V282A probably benign Het
Acsm5 A G 7: 119,531,866 D169G probably damaging Het
Adam8 C T 7: 139,988,806 probably null Het
Agpat1 T C 17: 34,610,562 F37L possibly damaging Het
Asah2 A T 19: 32,016,714 D410E probably benign Het
Atg2a T A 19: 6,246,800 V378D probably benign Het
Atp1a4 T C 1: 172,254,885 Y130C possibly damaging Het
B020004J07Rik T C 4: 101,836,858 Y276C probably benign Het
Bnc2 T C 4: 84,293,076 H419R possibly damaging Het
Capza3 A G 6: 140,041,915 D80G probably benign Het
Col6a4 C T 9: 106,068,078 D946N probably benign Het
Crat T C 2: 30,413,182 H31R probably damaging Het
Dsc2 A G 18: 20,043,733 V419A probably damaging Het
Ebf1 T C 11: 44,972,912 V363A probably damaging Het
Gm13119 A G 4: 144,362,661 K183R probably damaging Het
Lcp2 T C 11: 34,047,424 F24S probably damaging Het
Lgmn G A 12: 102,395,714 T376I probably benign Het
Lrrc8d C T 5: 105,811,864 L47F probably benign Het
Mier1 T A 4: 103,131,062 M44K possibly damaging Het
Olfr303 A C 7: 86,395,078 I140S possibly damaging Het
Pcgf6 A C 19: 47,047,982 F216C probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Rbbp4 A T 4: 129,317,750 H370Q probably damaging Het
Reln A G 5: 21,904,731 V3127A probably damaging Het
Rttn T A 18: 89,042,231 V1019E probably damaging Het
Serpina9 C T 12: 104,008,600 R98Q probably benign Het
Slc16a7 C A 10: 125,230,798 G324V probably damaging Het
Slc22a3 A G 17: 12,459,810 L209P probably damaging Het
Tet1 T A 10: 62,813,734 T1695S probably damaging Het
Tulp3 G A 6: 128,334,485 T74M probably damaging Het
Ube3a A G 7: 59,288,396 probably benign Het
Ufl1 A T 4: 25,281,686 S23T probably benign Het
Unc80 A G 1: 66,608,428 E1509G possibly damaging Het
Wnk2 A T 13: 49,056,940 I1801N probably damaging Het
Other mutations in Ogfod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Ogfod1 APN 8 94063006 missense probably damaging 1.00
IGL01296:Ogfod1 APN 8 94055671 splice site probably benign
IGL01369:Ogfod1 APN 8 94063091 critical splice donor site probably null
IGL02113:Ogfod1 APN 8 94064213 missense probably damaging 1.00
IGL03057:Ogfod1 APN 8 94056138 missense possibly damaging 0.78
IGL03071:Ogfod1 APN 8 94057767 missense probably damaging 1.00
R0391:Ogfod1 UTSW 8 94063023 missense probably damaging 1.00
R0395:Ogfod1 UTSW 8 94063528 critical splice donor site probably null
R0518:Ogfod1 UTSW 8 94055248 splice site probably null
R0605:Ogfod1 UTSW 8 94047267 splice site probably benign
R0708:Ogfod1 UTSW 8 94039045 missense possibly damaging 0.89
R0763:Ogfod1 UTSW 8 94055636 missense probably benign 0.03
R1101:Ogfod1 UTSW 8 94064304 missense probably benign
R1244:Ogfod1 UTSW 8 94037371 missense probably benign
R1332:Ogfod1 UTSW 8 94058099 missense probably damaging 1.00
R1336:Ogfod1 UTSW 8 94058099 missense probably damaging 1.00
R2301:Ogfod1 UTSW 8 94037368 missense probably damaging 0.99
R3025:Ogfod1 UTSW 8 94063052 missense probably damaging 1.00
R3710:Ogfod1 UTSW 8 94057752 nonsense probably null
R4612:Ogfod1 UTSW 8 94037347 missense possibly damaging 0.66
R5349:Ogfod1 UTSW 8 94055248 splice site probably benign
R5495:Ogfod1 UTSW 8 94064278 missense probably benign 0.30
R5690:Ogfod1 UTSW 8 94058141 missense probably damaging 0.99
R6355:Ogfod1 UTSW 8 94062982 missense probably benign
R7282:Ogfod1 UTSW 8 94037439 missense possibly damaging 0.47
R7396:Ogfod1 UTSW 8 94038987 missense probably benign 0.00
R7651:Ogfod1 UTSW 8 94037353 missense probably benign 0.04
R8868:Ogfod1 UTSW 8 94047278 missense probably damaging 1.00
X0027:Ogfod1 UTSW 8 94037404 missense probably benign 0.08
Z1177:Ogfod1 UTSW 8 94037309 unclassified probably benign
Posted On2015-04-16