Incidental Mutation 'IGL02234:Odc1'
| ID |
285828 |
| 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)
|
| Stock # |
IGL02234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
17594906-17601503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 17598621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 220
(D220E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000171737
AA Change: D220E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128661
Gene: ENSMUSG00000011179
AA Change: D220E
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
unknown
Transcript: ENSMUST00000221613
AA Change: D167E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222617
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,645,179 (GRCm39) |
T1010M |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,829,303 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,756 (GRCm39) |
K1585* |
probably null |
Het |
| Cdh19 |
T |
C |
1: 110,859,956 (GRCm39) |
D175G |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,707,159 (GRCm39) |
R1214L |
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,753,478 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
T |
C |
8: 11,266,713 (GRCm39) |
K1165E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,890,631 (GRCm39) |
F1888L |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,811,512 (GRCm39) |
R1193L |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,274,340 (GRCm39) |
H347L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,143,748 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,549,039 (GRCm39) |
V193A |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,691,495 (GRCm39) |
|
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,439,938 (GRCm39) |
H79Y |
probably damaging |
Het |
| Gm12588 |
T |
A |
11: 121,799,151 (GRCm39) |
|
|
Het |
| Gpr107 |
T |
C |
2: 31,067,845 (GRCm39) |
Y222H |
probably damaging |
Het |
| Gzmn |
C |
T |
14: 56,406,464 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,336 (GRCm39) |
I258T |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,661 (GRCm39) |
K137R |
probably benign |
Het |
| Htr1f |
T |
A |
16: 64,746,430 (GRCm39) |
R287S |
probably damaging |
Het |
| Il20ra |
A |
C |
10: 19,625,018 (GRCm39) |
D99A |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mboat7 |
A |
G |
7: 3,694,350 (GRCm39) |
Y34H |
probably damaging |
Het |
| Mid2 |
T |
C |
X: 139,664,418 (GRCm39) |
S646P |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,294,229 (GRCm39) |
S995P |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,949,350 (GRCm39) |
I108V |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,842 (GRCm39) |
T1395M |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,302 (GRCm39) |
F448L |
probably damaging |
Het |
| Or8k33 |
T |
C |
2: 86,383,610 (GRCm39) |
N286S |
probably damaging |
Het |
| Pax7 |
A |
G |
4: 139,555,901 (GRCm39) |
I189T |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,416,588 (GRCm39) |
H179L |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,467,694 (GRCm39) |
M1836L |
probably benign |
Het |
| Psmc5 |
T |
C |
11: 106,153,836 (GRCm39) |
V390A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,766 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,679,318 (GRCm39) |
R866C |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,646,647 (GRCm39) |
F271S |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,282,301 (GRCm39) |
|
probably null |
Het |
| Ttll8 |
T |
A |
15: 88,798,252 (GRCm39) |
I828F |
possibly damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,537 (GRCm39) |
Y241C |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Odc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02135:Odc1
|
APN |
12 |
17,597,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation