Incidental Mutation 'IGL03007:Odc1'
ID407589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Odc1
Ensembl Gene ENSMUSG00000011179
Gene Nameornithine decarboxylase, structural 1
SynonymsODC
Accession Numbers

Genbank: NM_013614.2

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03007
Quality Score
Status
Chromosome12
Chromosomal Location17544794-17551505 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17548810 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 230 (H230Q)
Ref Sequence ENSEMBL: ENSMUSP00000128661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171737] [ENSMUST00000222617]
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 benign
Transcript: ENSMUST00000171737
AA Change: H230Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000128661
Gene: ENSMUSG00000011179
AA Change: H230Q

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 noncoding transcript
Transcript: ENSMUST00000221701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222250
Predicted Effect probably benign
Transcript: ENSMUST00000222617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222758
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,222,038 N144D possibly damaging Het
A830010M20Rik T A 5: 107,503,676 V145E probably benign Het
A830031A19Rik T C 11: 24,049,248 probably benign Het
Ankfy1 T C 11: 72,750,521 F640S probably damaging Het
Asb8 A G 15: 98,142,734 Y16H probably damaging Het
Astn1 T C 1: 158,668,623 probably benign Het
Celf3 A G 3: 94,487,137 T183A probably benign Het
Dctn1 T C 6: 83,182,708 V56A probably damaging Het
Erbb2 A C 11: 98,428,993 probably benign Het
Ighv6-4 A T 12: 114,406,593 Y80N possibly damaging Het
Igsf9b T C 9: 27,333,082 S782P probably damaging Het
Itsn1 A T 16: 91,784,162 probably benign Het
Kcnt2 T A 1: 140,354,507 Y77N possibly damaging Het
Lig3 T C 11: 82,789,575 F359S probably damaging Het
Mtmr6 G T 14: 60,289,535 probably benign Het
Muc4 C T 16: 32,752,048 S642F possibly damaging Het
Ncoa1 T A 12: 4,339,114 I54F possibly damaging Het
Nfx1 C A 4: 40,984,962 T362K probably benign Het
Ntrk1 T C 3: 87,782,743 S449G possibly damaging Het
Olfr26 C T 9: 38,855,296 T78I probably damaging Het
Olfr348 T C 2: 36,786,800 S92P probably damaging Het
Olfr63 A G 17: 33,268,883 E53G probably damaging Het
Olfr963 T C 9: 39,669,471 V138A possibly damaging Het
Plekhh2 A C 17: 84,574,960 S665R possibly damaging Het
Qpct T A 17: 79,070,865 F155I probably damaging Het
Rcor2 C A 19: 7,274,353 T379K probably benign Het
Rint1 A G 5: 23,815,701 N574S probably benign Het
Rsbn1 C T 3: 103,928,879 A411V probably damaging Het
Sbno2 A T 10: 80,058,550 probably benign Het
Sptb A G 12: 76,621,341 S661P probably damaging Het
Syn3 A T 10: 86,064,914 M370K possibly damaging Het
Tex101 G A 7: 24,670,481 probably benign Het
Tmem255b C T 8: 13,457,066 T265I possibly damaging Het
Trio G T 15: 27,902,742 A211D probably damaging Het
Zfp638 C A 6: 83,984,884 Q1902K probably damaging Het
Other mutations in Odc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Odc1 APN 12 17547673 missense probably damaging 1.00
IGL02234:Odc1 APN 12 17548620 missense possibly damaging 0.95
F5426:Odc1 UTSW 12 17549423 critical splice acceptor site probably null
H8562:Odc1 UTSW 12 17548037 missense probably benign 0.11
R1648:Odc1 UTSW 12 17548537 splice site probably benign
R1898:Odc1 UTSW 12 17548841 missense probably damaging 1.00
R2224:Odc1 UTSW 12 17547335 missense probably benign 0.05
R2274:Odc1 UTSW 12 17548424 missense probably benign 0.01
R3932:Odc1 UTSW 12 17548800 missense probably benign 0.38
R4883:Odc1 UTSW 12 17547385 missense possibly damaging 0.82
R4956:Odc1 UTSW 12 17547957 missense probably damaging 1.00
R5036:Odc1 UTSW 12 17548019 missense probably damaging 1.00
R6112:Odc1 UTSW 12 17549472 missense probably benign 0.23
R6261:Odc1 UTSW 12 17550654 missense probably benign 0.00
R7092:Odc1 UTSW 12 17548313 missense possibly damaging 0.90
R7101:Odc1 UTSW 12 17547318 missense probably benign
R7243:Odc1 UTSW 12 17550057 nonsense probably null
R7638:Odc1 UTSW 12 17550002 missense probably damaging 0.99
Z1177:Odc1 UTSW 12 17550722 missense probably benign
Posted On2016-08-02