Incidental Mutation 'IGL02135:Odc1'
ID 281303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Odc1
Ensembl Gene ENSMUSG00000011179
Gene Name ornithine decarboxylase, structural 1
Synonyms ODC
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02135
Quality Score
Status
Chromosome 12
Chromosomal Location 17594906-17601503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17597674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 48 (I48N)
Ref Sequence ENSEMBL: ENSMUSP00000128661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171737] [ENSMUST00000222617]
AlphaFold P00860
PDB Structure CRYSTAL STRUCTURE ORNITHINE DECARBOXYLASE FROM MOUSE, TRUNCATED 37 RESIDUES FROM THE C-TERMINUS, TO 1.6 ANGSTROM RESOLUTION [X-RAY DIFFRACTION]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082493
Predicted Effect probably damaging
Transcript: ENSMUST00000171737
AA Change: I48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128661
Gene: ENSMUSG00000011179
AA Change: I48N

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 44 282 2.2e-93 PFAM
Pfam:Orn_DAP_Arg_deC 286 407 1.7e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221354
Predicted Effect probably benign
Transcript: ENSMUST00000221613
Predicted Effect probably benign
Transcript: ENSMUST00000222617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222250
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous null embryos die prior to gastrulation. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, other(3) Gene trapped(6)  

Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,205 (GRCm39) H1034R possibly damaging Het
Aoc1l1 G A 6: 48,952,498 (GRCm39) R141Q probably benign Het
App A G 16: 84,876,726 (GRCm39) probably null Het
Arhgap23 G T 11: 97,342,528 (GRCm39) R270L probably damaging Het
Arhgap36 T C X: 48,586,066 (GRCm39) I342T possibly damaging Het
Arhgef12 A T 9: 42,883,461 (GRCm39) M1356K possibly damaging Het
Armh4 T C 14: 50,011,386 (GRCm39) K107R probably damaging Het
Asap3 A C 4: 135,968,464 (GRCm39) probably null Het
Atl2 A G 17: 80,167,214 (GRCm39) probably null Het
Cdh20 T A 1: 110,066,004 (GRCm39) Y759* probably null Het
Celsr3 A G 9: 108,704,755 (GRCm39) T413A probably benign Het
Cep97 A T 16: 55,743,330 (GRCm39) I102K probably damaging Het
Ces2a T C 8: 105,466,813 (GRCm39) S441P probably benign Het
Cops2 T C 2: 125,674,163 (GRCm39) T435A probably benign Het
Ctc1 A G 11: 68,911,989 (GRCm39) N56S probably benign Het
Dennd2a G A 6: 39,457,205 (GRCm39) R746* probably null Het
Dnah5 T A 15: 28,248,031 (GRCm39) C723S possibly damaging Het
Dnah7a A C 1: 53,662,632 (GRCm39) V643G probably benign Het
Dnah9 A T 11: 66,008,318 (GRCm39) S836T possibly damaging Het
Edc4 T A 8: 106,612,454 (GRCm39) V164D probably damaging Het
Gcfc2 A T 6: 81,918,381 (GRCm39) D357V probably damaging Het
Grem1 T C 2: 113,580,132 (GRCm39) N123S probably damaging Het
Gria1 T C 11: 57,076,679 (GRCm39) V94A probably damaging Het
Hipk2 G A 6: 38,795,934 (GRCm39) H112Y possibly damaging Het
Il7r T C 15: 9,508,092 (GRCm39) N410S probably benign Het
Insr A T 8: 3,308,741 (GRCm39) S98R probably damaging Het
Klhl7 T A 5: 24,346,279 (GRCm39) Y308* probably null Het
Lcp1 T C 14: 75,437,926 (GRCm39) V112A probably benign Het
Map2 A T 1: 66,419,920 (GRCm39) R84* probably null Het
Mgst1 A T 6: 138,124,766 (GRCm39) M27L probably damaging Het
Mroh7 A G 4: 106,559,707 (GRCm39) L740P probably damaging Het
Mybpc3 T C 2: 90,955,171 (GRCm39) F507L possibly damaging Het
Nqo2 A T 13: 34,169,326 (GRCm39) K183* probably null Het
Nt5c1b T C 12: 10,427,194 (GRCm39) Y315H probably damaging Het
Or2a56 A G 6: 42,932,585 (GRCm39) D51G probably damaging Het
Or7a37 T A 10: 78,805,940 (GRCm39) S152R probably damaging Het
Osbpl5 T A 7: 143,258,862 (GRCm39) D236V probably damaging Het
Prkg1 A G 19: 30,970,476 (GRCm39) Y212H probably benign Het
Pttg1ip T C 10: 77,425,578 (GRCm39) probably null Het
Serpina1f T A 12: 103,659,974 (GRCm39) T103S possibly damaging Het
Skp2 T C 15: 9,125,234 (GRCm39) D115G probably benign Het
Slc25a30 C T 14: 76,004,435 (GRCm39) V221I probably benign Het
Slc7a3 A C X: 100,123,098 (GRCm39) D609E probably benign Het
Strc C T 2: 121,195,315 (GRCm39) G1656D probably damaging Het
Tbc1d8 A G 1: 39,441,891 (GRCm39) F234L probably damaging Het
Tgm7 T G 2: 120,929,519 (GRCm39) I252L possibly damaging Het
Tlr5 A G 1: 182,800,819 (GRCm39) D41G possibly damaging Het
Tns2 T C 15: 102,021,461 (GRCm39) L1034P probably damaging Het
Trim15 A G 17: 37,177,956 (GRCm39) V13A probably benign Het
Uros C T 7: 133,288,734 (GRCm39) V258M possibly damaging Het
Wdr75 A G 1: 45,853,723 (GRCm39) Y378C probably damaging Het
Wdr75 G A 1: 45,856,608 (GRCm39) probably null Het
Wdr82 G T 9: 106,048,443 (GRCm39) R9L possibly damaging Het
Ybx3 G A 6: 131,357,892 (GRCm39) R125C probably damaging Het
Zc3h12b A G X: 94,942,870 (GRCm39) T49A probably benign Het
Zfyve27 G A 19: 42,172,575 (GRCm39) V279M probably damaging Het
Other mutations in Odc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Odc1 APN 12 17,598,621 (GRCm39) missense possibly damaging 0.95
IGL03007:Odc1 APN 12 17,598,811 (GRCm39) missense probably benign 0.01
F5426:Odc1 UTSW 12 17,599,424 (GRCm39) critical splice acceptor site probably null
H8562:Odc1 UTSW 12 17,598,038 (GRCm39) missense probably benign 0.11
R1648:Odc1 UTSW 12 17,598,538 (GRCm39) splice site probably benign
R1898:Odc1 UTSW 12 17,598,842 (GRCm39) missense probably damaging 1.00
R2224:Odc1 UTSW 12 17,597,336 (GRCm39) missense probably benign 0.05
R2274:Odc1 UTSW 12 17,598,425 (GRCm39) missense probably benign 0.01
R3932:Odc1 UTSW 12 17,598,801 (GRCm39) missense probably benign 0.38
R4883:Odc1 UTSW 12 17,597,386 (GRCm39) missense possibly damaging 0.82
R4956:Odc1 UTSW 12 17,597,958 (GRCm39) missense probably damaging 1.00
R5036:Odc1 UTSW 12 17,598,020 (GRCm39) missense probably damaging 1.00
R6112:Odc1 UTSW 12 17,599,473 (GRCm39) missense probably benign 0.23
R6261:Odc1 UTSW 12 17,600,655 (GRCm39) missense probably benign 0.00
R7092:Odc1 UTSW 12 17,598,314 (GRCm39) missense possibly damaging 0.90
R7101:Odc1 UTSW 12 17,597,319 (GRCm39) missense probably benign
R7243:Odc1 UTSW 12 17,600,058 (GRCm39) nonsense probably null
R7638:Odc1 UTSW 12 17,600,003 (GRCm39) missense probably damaging 0.99
R8496:Odc1 UTSW 12 17,598,396 (GRCm39) missense probably damaging 1.00
R8924:Odc1 UTSW 12 17,598,329 (GRCm39) missense possibly damaging 0.93
R9218:Odc1 UTSW 12 17,598,312 (GRCm39) nonsense probably null
R9647:Odc1 UTSW 12 17,598,614 (GRCm39) missense possibly damaging 0.93
Z1177:Odc1 UTSW 12 17,600,723 (GRCm39) missense probably benign
Posted On 2015-04-16