Mutagenetix > Incidental Mutations

Incidental Mutation 'R6899:Cdo1'

541044

Institutional Source

Beutler Lab

Gene Symbol

Cdo1

Ensembl Gene

ENSMUSG00000033022

Gene Name

cysteine dioxygenase 1, cytosolic

Synonyms

Cdo, D18Ucla3, 1300002L19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.359) question?

Stock #

R6899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46713205-46728342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46723340 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 76 (C76R)

Ref Sequence

ENSEMBL: ENSMUSP00000046517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035804]

PDB Structure

X-RAY STRUCTURE OF cysteine dioxygenase type I FROM MUS MUSCULUS MM.241056 [X-RAY DIFFRACTION]
Ensemble refinement of the protein crystal structure of cysteine dioxygenase type I from Mus musculus Mm.241056 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035804
AA Change: C76R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046517
Gene: ENSMUSG00000033022
AA Change: C76R

Domain	Start	End	E-Value	Type
Pfam:CDO_I	1	170	3e-81	PFAM
Pfam:DUF1637	26	184	9e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.0%
20x: 95.9%

Validation Efficiency

98% (56/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a deletion of this gene show increased preweaning mortality, lower body weight, behavioral defects, skeletal defects, homeostatic and reproductive defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	T	C	10: 43,532,784	E121G	possibly damaging	Het
Abca16	A	G	7: 120,527,041	Y1140C	probably damaging	Het
Actl9	G	A	17: 33,433,559	G198S	probably damaging	Het
Adcy2	A	T	13: 68,982,381	M129K	probably damaging	Het
Apmap	T	A	2: 150,594,308	I107F	probably benign	Het
Arrdc3	T	C	13: 80,889,211	I162T	probably damaging	Het
Asprv1	T	C	6: 86,628,760	L196P	probably damaging	Het
Bag2	A	G	1: 33,746,831	S137P	possibly damaging	Het
Borcs5	T	A	6: 134,710,210	M177K	probably benign	Het
C8b	A	T	4: 104,786,874	K246M	probably benign	Het
Ces2b	T	A	8: 104,836,766		probably null	Het
Csf2rb	G	A	15: 78,340,702	S194N	probably benign	Het
Dap3	A	G	3: 88,933,600	F77L	probably benign	Het
Dars	A	G	1: 128,413,746	V44A	possibly damaging	Het
Dhtkd1	T	A	2: 5,917,965	D461V	possibly damaging	Het
Ero1l	A	C	14: 45,292,939	H345Q	probably benign	Het
Fam173b	A	G	15: 31,617,111	S163G	probably benign	Het
Fzd8	T	A	18: 9,214,729	S604T	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gramd1c	T	A	16: 44,040,142	Y64F	probably benign	Het
Heatr5b	T	A	17: 78,803,509	Y970F	probably benign	Het
Hoxc10	A	G	15: 102,967,507	E217G	possibly damaging	Het
Hsd17b14	A	T	7: 45,562,928	H128L	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ifna9	A	G	4: 88,592,063	F108S	probably damaging	Het
Ikbke	A	G	1: 131,275,762	V58A	probably damaging	Het
Inpp5e	G	A	2: 26,400,048	R462C	possibly damaging	Het
Junb	A	G	8: 84,977,724	F236L	probably benign	Het
Klhl36	T	C	8: 119,870,142	V194A	probably benign	Het
Lsg1	A	T	16: 30,582,088	D134E	probably benign	Het
Megf8	G	T	7: 25,360,713	C2343F	probably damaging	Het
Myom3	G	A	4: 135,803,292	G1172R	probably damaging	Het
Nasp	A	T	4: 116,604,333	V548E	probably damaging	Het
Nubpl	T	A	12: 52,310,753	S317T	probably benign	Het
Nup210l	A	G	3: 90,167,897	D838G	possibly damaging	Het
Oxsr1	C	T	9: 119,247,122	A373T	probably benign	Het
Psat1	C	T	19: 15,918,205		probably null	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Slain1	C	T	14: 103,650,779	P45L	possibly damaging	Het
Slc16a8	A	G	15: 79,253,749	V20A	possibly damaging	Het
Slc22a13	A	T	9: 119,196,407	M145K	probably damaging	Het
Slc22a4	G	A	11: 53,988,913	T440I	probably damaging	Het
Slc39a12	C	T	2: 14,389,541	P74L	probably damaging	Het
Sod3	A	G	5: 52,368,708	T250A	unknown	Het
Syne2	A	G	12: 76,095,729		probably null	Het
Tctn1	A	G	5: 122,248,956	Y299H	probably damaging	Het
Tfcp2l1	A	G	1: 118,675,575	M448V	probably benign	Het
Tfpi	C	T	2: 84,444,809	G152S	probably damaging	Het
Thap4	A	G	1: 93,750,969	S32P	probably damaging	Het
Tmem132c	T	A	5: 127,551,680	W549R	probably damaging	Het
Vmn2r29	T	C	7: 7,241,642	E411G	probably damaging	Het
Washc4	C	A	10: 83,576,055	D683E	probably benign	Het
Wdr3	A	T	3: 100,149,901	V462D	possibly damaging	Het
Wdr5b	T	C	16: 36,041,780	S90P	probably damaging	Het
Zfp407	A	G	18: 84,561,434	L518P	possibly damaging	Het
Zfp53	A	G	17: 21,508,445	I247V	possibly damaging	Het

Other mutations in Cdo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0505:Cdo1	UTSW	18	46715611	missense	probably benign	0.02
R0846:Cdo1	UTSW	18	46715745	missense	probably damaging	0.99
R1062:Cdo1	UTSW	18	46728063	missense	probably benign	0.00
R1063:Cdo1	UTSW	18	46728063	missense	probably benign	0.00
R1526:Cdo1	UTSW	18	46728063	missense	probably benign	0.00
R1815:Cdo1	UTSW	18	46720302	missense	probably damaging	0.99
R6317:Cdo1	UTSW	18	46728037	missense	probably benign
R6996:Cdo1	UTSW	18	46720313	missense	possibly damaging	0.60
R7032:Cdo1	UTSW	18	46720408	missense	probably damaging	1.00
R7073:Cdo1	UTSW	18	46728199	start gained	probably benign
X0064:Cdo1	UTSW	18	46720432	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGTGACTCCATAGAGGTGAC -3'
(R):5'- GAAGAACATACCCTAAGCCCTATTG -3'

Sequencing Primer
(F):5'- CTCCATAGAGGTGACATAAATAAGGC -3'
(R):5'- TCCATAAAAGGGATGCTTCGAGTCC -3'

Posted On

2018-11-28