Incidental Mutation 'R0681:Ogfod2'
ID 60964
Institutional Source Beutler Lab
Gene Symbol Ogfod2
Ensembl Gene ENSMUSG00000023707
Gene Name 2-oxoglutarate and iron-dependent oxygenase domain containing 2
Synonyms 1300006G11Rik, 5730405M13Rik
MMRRC Submission 038866-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R0681 (G1)
Quality Score 122
Status Validated
Chromosome 5
Chromosomal Location 124250384-124253544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124250907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 62 (E62G)
Ref Sequence ENSEMBL: ENSMUSP00000143698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024470] [ENSMUST00000031351] [ENSMUST00000119269] [ENSMUST00000122394] [ENSMUST00000198505] [ENSMUST00000198770] [ENSMUST00000196627] [ENSMUST00000145667] [ENSMUST00000196401] [ENSMUST00000149835]
AlphaFold Q9CQ04
Predicted Effect probably null
Transcript: ENSMUST00000024470
AA Change: E62G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024470
Gene: ENSMUSG00000023707
AA Change: E62G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Blast:P4Hc 42 100 2e-6 BLAST
low complexity region 102 112 N/A INTRINSIC
P4Hc 136 307 7.91e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031351
SMART Domains Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
Pfam:SR-25 7 227 2.7e-104 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119269
AA Change: E62G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112701
Gene: ENSMUSG00000023707
AA Change: E62G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Blast:P4Hc 42 133 1e-22 BLAST
Blast:P4Hc 136 175 1e-20 BLAST
low complexity region 176 187 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122394
SMART Domains Protein: ENSMUSP00000112506
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
Pfam:SR-25 2 199 6.3e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130140
Predicted Effect probably null
Transcript: ENSMUST00000198505
AA Change: S56G
SMART Domains Protein: ENSMUSP00000142965
Gene: ENSMUSG00000023707
AA Change: S56G

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 30 45 N/A INTRINSIC
low complexity region 48 61 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000198770
AA Change: E31G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143318
Gene: ENSMUSG00000023707
AA Change: E31G

DomainStartEndE-ValueType
Blast:P4Hc 11 102 7e-24 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000196627
AA Change: E62G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143698
Gene: ENSMUSG00000023707
AA Change: E62G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Blast:P4Hc 42 133 1e-23 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000199457
AA Change: E61G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136955
Predicted Effect probably benign
Transcript: ENSMUST00000145667
SMART Domains Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
Pfam:SR-25 19 227 3e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196401
SMART Domains Protein: ENSMUSP00000142496
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
low complexity region 29 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149835
SMART Domains Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
low complexity region 5 32 N/A INTRINSIC
SCOP:d1l9ha_ 58 84 7e-3 SMART
Meta Mutation Damage Score 0.5562 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,661,279 (GRCm39) probably benign Het
Adgrv1 C A 13: 81,676,649 (GRCm39) D1341Y probably damaging Het
Ahdc1 T C 4: 132,792,827 (GRCm39) F1356S possibly damaging Het
Cdk13 A G 13: 17,895,882 (GRCm39) probably benign Het
Cfhr1 A T 1: 139,485,249 (GRCm39) S66T probably damaging Het
Cldn6 C A 17: 23,900,167 (GRCm39) Q44K probably damaging Het
Cntnap5c T C 17: 58,612,550 (GRCm39) V863A possibly damaging Het
Col6a4 T A 9: 105,944,343 (GRCm39) K1044* probably null Het
Cyb561d1 A G 3: 108,106,583 (GRCm39) V212A probably benign Het
Cyp1b1 A G 17: 80,021,275 (GRCm39) S156P probably damaging Het
Dock7 G A 4: 98,904,941 (GRCm39) H645Y probably damaging Het
Dpp3 T C 19: 4,964,682 (GRCm39) N542D probably damaging Het
Fastkd3 C T 13: 68,740,047 (GRCm39) probably benign Het
Galnt10 T A 11: 57,660,366 (GRCm39) V268D probably damaging Het
Grb14 G T 2: 64,747,631 (GRCm39) A10E probably damaging Het
Grin2c A G 11: 115,140,479 (GRCm39) V1213A probably benign Het
Grip1 C T 10: 119,846,135 (GRCm39) T570I probably damaging Het
Hif1an T C 19: 44,551,762 (GRCm39) Y71H probably benign Het
Hsd17b11 T A 5: 104,151,072 (GRCm39) I221L probably benign Het
Htra1 A T 7: 130,581,027 (GRCm39) probably benign Het
Igfn1 T C 1: 135,891,591 (GRCm39) E2308G possibly damaging Het
Mapk9 T A 11: 49,760,072 (GRCm39) S129T probably damaging Het
Med22 T C 2: 26,800,391 (GRCm39) T13A probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mtus1 A T 8: 41,446,554 (GRCm39) L489Q probably damaging Het
Naprt G A 15: 75,765,481 (GRCm39) P120S probably damaging Het
Nwd1 C T 8: 73,388,965 (GRCm39) P172L probably damaging Het
Or13a1 A T 6: 116,471,361 (GRCm39) S264C probably damaging Het
Or5b12b A G 19: 12,861,910 (GRCm39) T222A probably damaging Het
Or5b12b T C 19: 12,861,443 (GRCm39) L66P probably damaging Het
Palm A C 10: 79,655,327 (GRCm39) T362P probably benign Het
Pcare T G 17: 72,056,509 (GRCm39) H1056P probably benign Het
Pcdh8 T C 14: 80,007,400 (GRCm39) T388A probably benign Het
Pclo A G 5: 14,725,332 (GRCm39) I1397V unknown Het
Per1 A G 11: 68,992,027 (GRCm39) E127G probably damaging Het
Plekha1 T C 7: 130,502,353 (GRCm39) V30A possibly damaging Het
Pramel24 A T 4: 143,454,622 (GRCm39) T307S probably benign Het
Rab26 A G 17: 24,746,940 (GRCm39) probably benign Het
Rasal2 T C 1: 156,984,750 (GRCm39) D999G possibly damaging Het
Rfx5 C T 3: 94,863,666 (GRCm39) T105I probably damaging Het
Rrp1b T C 17: 32,279,369 (GRCm39) S677P probably damaging Het
Scaf4 G A 16: 90,046,582 (GRCm39) P485S unknown Het
Scn5a A T 9: 119,368,706 (GRCm39) M273K probably damaging Het
Sec22a C T 16: 35,181,926 (GRCm39) probably null Het
Slc10a6 C A 5: 103,760,315 (GRCm39) V227F possibly damaging Het
Slc39a3 C G 10: 80,869,565 (GRCm39) E31Q probably benign Het
Spsb1 C T 4: 149,991,374 (GRCm39) V65I probably benign Het
Tdrd7 T A 4: 46,016,879 (GRCm39) M673K probably benign Het
Trim8 C A 19: 46,503,532 (GRCm39) S361R possibly damaging Het
Ucp1 T A 8: 84,021,936 (GRCm39) M256K possibly damaging Het
Vmn1r46 A T 6: 89,953,946 (GRCm39) D265V probably damaging Het
Zbtb5 T C 4: 44,993,787 (GRCm39) I532M probably damaging Het
Other mutations in Ogfod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02305:Ogfod2 APN 5 124,250,910 (GRCm39) critical splice donor site probably null
IGL03304:Ogfod2 APN 5 124,250,886 (GRCm39) missense probably damaging 0.99
R0018:Ogfod2 UTSW 5 124,252,588 (GRCm39) unclassified probably benign
R0751:Ogfod2 UTSW 5 124,251,539 (GRCm39) unclassified probably benign
R1744:Ogfod2 UTSW 5 124,252,219 (GRCm39) splice site probably null
R1800:Ogfod2 UTSW 5 124,253,019 (GRCm39) missense probably damaging 1.00
R2211:Ogfod2 UTSW 5 124,250,843 (GRCm39) splice site probably null
R3977:Ogfod2 UTSW 5 124,251,272 (GRCm39) splice site probably null
R4346:Ogfod2 UTSW 5 124,251,357 (GRCm39) missense probably damaging 1.00
R4508:Ogfod2 UTSW 5 124,251,317 (GRCm39) nonsense probably null
R4537:Ogfod2 UTSW 5 124,252,591 (GRCm39) unclassified probably benign
R5795:Ogfod2 UTSW 5 124,252,824 (GRCm39) missense probably damaging 1.00
R6647:Ogfod2 UTSW 5 124,252,866 (GRCm39) missense possibly damaging 0.95
R7101:Ogfod2 UTSW 5 124,252,558 (GRCm39) missense unknown
R8001:Ogfod2 UTSW 5 124,252,946 (GRCm39) missense probably damaging 1.00
R8139:Ogfod2 UTSW 5 124,251,538 (GRCm39) missense possibly damaging 0.69
R9080:Ogfod2 UTSW 5 124,253,007 (GRCm39) missense probably damaging 0.99
R9258:Ogfod2 UTSW 5 124,250,505 (GRCm39) missense probably benign
R9619:Ogfod2 UTSW 5 124,252,470 (GRCm39) missense probably damaging 1.00
R9675:Ogfod2 UTSW 5 124,252,452 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGGCTTTGCCCGAGTGTGCAAC -3'
(R):5'- TCTTAAACCTGACACTGCCCACTGC -3'

Sequencing Primer
(F):5'- AGCAGATCTTTCGGTGACC -3'
(R):5'- TGTCAAGGCGACCTGACAG -3'
Posted On 2013-07-30