Incidental Mutation 'IGL02113:Ogfod1'
ID280259
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 #IGL02113
Quality Score
Status
Chromosome8
Chromosomal Location94037198-94067921 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 94064213 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 504 (A504V)
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 damaging
Transcript: ENSMUST00000060632
AA Change: A489V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
AA Change: A489V

DomainStartEndE-ValueType
P4Hc 46 223 4.87e-26 SMART
Pfam:Ofd1_CTDD 246 513 1.4e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093301
AA Change: A461V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
AA Change: A461V

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 damaging
Transcript: ENSMUST00000109556
AA Change: A504V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
AA Change: A504V

DomainStartEndE-ValueType
P4Hc 61 238 4.87e-26 SMART
Pfam:Ofd1_CTDD 261 528 7.2e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170208
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,110,478 H726L possibly damaging Het
Aqr A T 2: 114,120,027 Y900* probably null Het
Atp11a G T 8: 12,865,048 R1155S probably benign Het
Bahd1 A G 2: 118,917,205 D435G probably benign Het
Brca2 A G 5: 150,540,979 T1403A possibly damaging Het
Cc2d2a T A 5: 43,685,248 probably null Het
Cog7 A G 7: 121,925,480 I697T probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dgki A G 6: 36,913,625 probably benign Het
Dpyd A G 3: 118,999,219 Y525C probably benign Het
Eepd1 T C 9: 25,482,713 L91P probably damaging Het
Foxf1 T A 8: 121,084,565 L56H probably damaging Het
Fry A T 5: 150,399,605 M1074L probably benign Het
Gbx1 T C 5: 24,504,876 T324A probably damaging Het
Gfpt1 T A 6: 87,087,367 N646K probably benign Het
Gm10258 C T 3: 30,268,393 probably benign Het
Gm12887 T C 4: 121,616,495 M53V probably benign Het
Hoxa11 C T 6: 52,245,317 G135S probably damaging Het
Mettl6 A T 14: 31,482,831 Y211* probably null Het
Moxd2 T C 6: 40,885,404 I160M probably benign Het
Mphosph10 G A 7: 64,376,807 probably benign Het
Mrpl19 T A 6: 81,965,915 M5L probably benign Het
Nbea A G 3: 55,992,492 V1412A probably benign Het
Nceh1 G T 3: 27,222,891 S121I probably damaging Het
Ntan1 A G 16: 13,835,144 T217A probably damaging Het
Olfr584 A T 7: 103,085,850 I111L possibly damaging Het
Pde3b G A 7: 114,526,906 V792M probably damaging Het
Pde9a A T 17: 31,459,970 M262L probably benign Het
Pi4ka A G 16: 17,373,415 V206A probably benign Het
Pkp1 A T 1: 135,883,914 N406K possibly damaging Het
Rcn3 A G 7: 45,083,338 I302T probably damaging Het
Rfx6 A G 10: 51,678,012 Q68R probably benign Het
Rpgrip1 A G 14: 52,133,844 D340G possibly damaging Het
Scn10a C T 9: 119,609,890 G1638S probably damaging Het
Serpinb9f A T 13: 33,334,468 H317L probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 A G 1: 45,910,894 I466T probably benign Het
Smyd2 A T 1: 189,882,217 S371R probably damaging Het
Snap47 A C 11: 59,428,436 I292S probably damaging Het
Tbx4 A G 11: 85,912,264 E322G possibly damaging Het
Tg A G 15: 66,705,330 T1501A probably benign Het
Tmem259 A G 10: 79,978,709 V300A probably benign Het
Usp7 A G 16: 8,716,513 probably null Het
Vmn2r94 G T 17: 18,257,675 T158K probably damaging Het
Vmn2r95 G T 17: 18,439,907 A194S possibly damaging Het
Zfp944 A T 17: 22,339,066 I400N possibly damaging Het
Zmynd12 T A 4: 119,433,997 I53K 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
IGL02228:Ogfod1 APN 8 94062987 missense probably benign 0.00
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
X0027:Ogfod1 UTSW 8 94037404 missense probably benign 0.08
Z1177:Ogfod1 UTSW 8 94037309 unclassified probably benign
Posted On2015-04-16