Incidental Mutation 'R3932:Odc1'
ID |
308519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Odc1
|
Ensembl Gene |
ENSMUSG00000011179 |
Gene Name |
ornithine decarboxylase, structural 1 |
Synonyms |
ODC |
MMRRC Submission |
040919-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3932 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
17594906-17601503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 17598801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 227
(F227Y)
|
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 benign
Transcript: ENSMUST00000171737
AA Change: F227Y
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128661 Gene: ENSMUSG00000011179 AA Change: F227Y
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 |
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
|
Meta Mutation Damage Score |
0.0744 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
100% (52/52) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
Arl1 |
C |
T |
10: 88,569,398 (GRCm39) |
|
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,476,852 (GRCm39) |
M1189T |
possibly damaging |
Het |
Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
Cdc34b |
G |
A |
11: 94,633,441 (GRCm39) |
V214M |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,665,619 (GRCm39) |
T2985A |
probably benign |
Het |
Clcc1 |
T |
C |
3: 108,580,682 (GRCm39) |
M332T |
probably damaging |
Het |
Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
Ctdnep1 |
A |
G |
11: 69,880,400 (GRCm39) |
|
probably benign |
Het |
Edar |
C |
T |
10: 58,446,164 (GRCm39) |
C221Y |
probably damaging |
Het |
Fam135b |
T |
A |
15: 71,322,280 (GRCm39) |
Q1295L |
probably benign |
Het |
Fam184a |
C |
T |
10: 53,575,397 (GRCm39) |
A71T |
probably damaging |
Het |
Fbxw10 |
A |
G |
11: 62,759,983 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
T |
C |
2: 4,542,071 (GRCm39) |
W247R |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,725,893 (GRCm39) |
H553R |
probably benign |
Het |
Grin3a |
C |
T |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
H2-Q6 |
C |
T |
17: 35,644,542 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
Med10 |
A |
G |
13: 69,958,101 (GRCm39) |
N18D |
probably damaging |
Het |
Mgat4b |
T |
A |
11: 50,124,165 (GRCm39) |
H368Q |
possibly damaging |
Het |
Morn5 |
C |
A |
2: 35,943,035 (GRCm39) |
T45N |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
Myrf |
T |
C |
19: 10,195,515 (GRCm39) |
T432A |
probably damaging |
Het |
Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
Nav3 |
T |
A |
10: 109,529,896 (GRCm39) |
E2148D |
probably damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,433,595 (GRCm39) |
T236A |
possibly damaging |
Het |
Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
Or5b21 |
T |
C |
19: 12,839,994 (GRCm39) |
M285T |
possibly damaging |
Het |
Pdcd1 |
T |
C |
1: 93,968,989 (GRCm39) |
I110V |
probably benign |
Het |
Pde5a |
G |
A |
3: 122,554,545 (GRCm39) |
E212K |
probably damaging |
Het |
Plin4 |
A |
G |
17: 56,413,704 (GRCm39) |
I307T |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,473,384 (GRCm39) |
Y586C |
probably damaging |
Het |
Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
Rgs9 |
A |
G |
11: 109,166,639 (GRCm39) |
|
probably benign |
Het |
Rin3 |
A |
G |
12: 102,356,342 (GRCm39) |
D961G |
probably damaging |
Het |
Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
Slc13a2 |
T |
A |
11: 78,289,226 (GRCm39) |
Y495F |
probably damaging |
Het |
Tfec |
T |
A |
6: 16,845,458 (GRCm39) |
D67V |
probably damaging |
Het |
Tmem94 |
T |
C |
11: 115,680,080 (GRCm39) |
M30T |
probably benign |
Het |
Tsbp1 |
A |
G |
17: 34,662,417 (GRCm39) |
T86A |
possibly damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,988,617 (GRCm39) |
|
probably benign |
Het |
Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,254,336 (GRCm39) |
M783V |
probably damaging |
Het |
Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
Het |
Zfp94 |
T |
G |
7: 24,003,112 (GRCm39) |
D110A |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGACATGGCAGTGAGTACAC -3'
(R):5'- GGCTACCGTACACCAGTCAATG -3'
Sequencing Primer
(F):5'- TACACGGGACTTGTTCAAGG -3'
(R):5'- CCAGTCAATGGGATTGCAGC -3'
|
Posted On |
2015-04-17 |