Mutagenetix > Incidental Mutation

Incidental Mutation 'R4956:Odc1'

381597

Institutional Source

Beutler Lab

Gene Symbol

Odc1

Ensembl Gene

ENSMUSG00000011179

Gene Name

ornithine decarboxylase, structural 1

Synonyms

ODC

MMRRC Submission

042553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4956 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

17594906-17601503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17597958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 95 (I95T)

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: I95T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128661
Gene: ENSMUSG00000011179
AA Change: I95T

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: I42T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222250

Predicted Effect

probably benign
Transcript: ENSMUST00000222617

Meta Mutation Damage Score

0.9017

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (70/73)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
4930562C15Rik	A	G	16: 4,672,816 (GRCm39)	K866E	probably damaging	Het
Afap1l2	T	C	19: 56,931,879 (GRCm39)	M49V	probably benign	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Atp2a2	A	G	5: 122,599,643 (GRCm39)	F583L	probably benign	Het
Atxn7l3b	A	G	10: 112,764,501 (GRCm39)	C43R	probably damaging	Het
Axin2	T	C	11: 108,833,904 (GRCm39)	V617A	probably damaging	Het
Bltp3a	T	A	17: 28,108,958 (GRCm39)		probably null	Het
Brd1	A	T	15: 88,614,316 (GRCm39)	F193Y	probably damaging	Het
Cdc27	T	C	11: 104,420,221 (GRCm39)	S141G	probably damaging	Het
Chst9	A	T	18: 15,851,045 (GRCm39)	F7Y	probably damaging	Het
Cpn2	T	A	16: 30,079,233 (GRCm39)	Q156L	possibly damaging	Het
Dcaf6	A	T	1: 165,216,354 (GRCm39)	D416E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Eif2s3y	A	G	Y: 1,023,407 (GRCm39)	T430A	possibly damaging	Het
Enah	G	A	1: 181,745,854 (GRCm39)	T401I	probably damaging	Het
Esp38	T	G	17: 40,266,053 (GRCm39)	I54R	probably damaging	Het
Ffar4	C	T	19: 38,086,028 (GRCm39)	R152W	probably benign	Het
Flvcr1	A	G	1: 190,758,383 (GRCm39)		probably benign	Het
Fzd9	G	A	5: 135,278,796 (GRCm39)	A363V	probably damaging	Het
Gadl1	T	A	9: 115,869,987 (GRCm39)	I451N	probably benign	Het
Hmg20a	A	G	9: 56,388,948 (GRCm39)	T172A	probably damaging	Het
Ints1	G	A	5: 139,742,885 (GRCm39)	T1695M	probably damaging	Het
Ipo13	G	A	4: 117,758,768 (GRCm39)	A699V	probably benign	Het
Ipo9	A	G	1: 135,331,960 (GRCm39)		probably null	Het
Klra17	A	G	6: 129,850,279 (GRCm39)	L57P	probably damaging	Het
Map3k8	A	C	18: 4,339,530 (GRCm39)	D280E	probably benign	Het
Mycbp2	A	G	14: 103,524,675 (GRCm39)	F662L	probably damaging	Het
Ncor1	T	A	11: 62,231,431 (GRCm39)	H792L	probably damaging	Het
Nlrx1	T	A	9: 44,173,909 (GRCm39)	K431*	probably null	Het
Nos1	A	G	5: 118,085,575 (GRCm39)	N1301S	probably benign	Het
Obp2b	A	G	2: 25,627,087 (GRCm39)	T7A	probably damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4c127	G	A	2: 89,833,187 (GRCm39)	V146M	probably benign	Het
Or5b97	C	T	19: 12,878,963 (GRCm39)	M60I	probably damaging	Het
Or6ae1	A	G	7: 139,741,993 (GRCm39)	I290T	possibly damaging	Het
Or6c1	A	T	10: 129,517,968 (GRCm39)	F213L	probably benign	Het
Pcif1	A	T	2: 164,731,610 (GRCm39)	Q521L	probably damaging	Het
Plekhg2	A	C	7: 28,067,780 (GRCm39)	L223R	probably damaging	Het
Plod3	A	G	5: 137,018,772 (GRCm39)	N270D	probably damaging	Het
Ppp1r37	A	T	7: 19,266,636 (GRCm39)	L417*	probably null	Het
Psmd6	C	T	14: 14,116,166 (GRCm38)	V141I	probably benign	Het
Rcn1	A	T	2: 105,225,121 (GRCm39)	Y111*	probably null	Het
Rell2	G	A	18: 38,090,758 (GRCm39)	R145H	probably damaging	Het
Scaper	T	C	9: 55,745,426 (GRCm39)	K614R	probably damaging	Het
Scart2	A	G	7: 139,878,275 (GRCm39)	I1001V	probably benign	Het
Shbg	C	T	11: 69,508,045 (GRCm39)	E107K	probably damaging	Het
Slc30a3	G	A	5: 31,244,247 (GRCm39)	P345L	possibly damaging	Het
Tchp	A	C	5: 114,857,681 (GRCm39)	E391D	probably damaging	Het
Timeless	A	G	10: 128,077,520 (GRCm39)	D200G	probably damaging	Het
Tspear	A	G	10: 77,700,601 (GRCm39)	T144A	possibly damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vgll3	T	C	16: 65,624,820 (GRCm39)	V56A	possibly damaging	Het
Vmn2r71	C	T	7: 85,268,436 (GRCm39)	T213I	probably benign	Het
Wtap	T	C	17: 13,186,423 (GRCm39)	T375A	probably benign	Het
Yipf2	T	G	9: 21,503,204 (GRCm39)	T88P	probably damaging	Het
Zfp382	T	A	7: 29,830,979 (GRCm39)	D89E	probably benign	Het
Zfp955b	C	T	17: 33,524,209 (GRCm39)		probably benign	Het
Zpr1	C	T	9: 46,185,961 (GRCm39)	T144I	probably damaging	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
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
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'- GCCATTGGGACAGGATTTGAC -3'
(R):5'- ATGAGTCTGCCCAACAAGG -3'

Sequencing Primer
(F):5'- CAGGATTTGACTGTGCAAGC -3'
(R):5'- TGTGCTCTATCAGAAGACTCAC -3'

Posted On

2016-04-27