Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03034:Cpox'

408585

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpox

Ensembl Gene

ENSMUSG00000022742

Gene Name

coproporphyrinogen oxidase

Synonyms

nct, Cpo, cac, clone 560

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.909) question?

Stock #

IGL03034

Quality Score

Status

Chromosome

Chromosomal Location

58670292-58717636 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58675355 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 345 (T345M)

Ref Sequence

ENSEMBL: ENSMUSP00000055455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060077]

Predicted Effect

probably damaging
Transcript: ENSMUST00000060077
AA Change: T345M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055455
Gene: ENSMUSG00000022742
AA Change: T345M

Domain	Start	End	E-Value	Type
low complexity region	57	81	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
Pfam:Coprogen_oxidas	140	442	7.6e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232532

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a spontaneous allele develop cataracts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	C	T	11: 81,890,082		probably benign	Het
Ablim2	A	G	5: 35,828,165	T269A	probably benign	Het
Asgr2	G	T	11: 70,098,263	G178W	probably damaging	Het
Chtf18	A	G	17: 25,727,346		probably benign	Het
Cnmd	C	T	14: 79,641,928	A257T	probably benign	Het
Cox7a1	A	G	7: 30,185,268		probably benign	Het
Crisp1	T	C	17: 40,307,728	T81A	probably benign	Het
Dcc	T	A	18: 71,575,143	R501*	probably null	Het
Dlx6	A	C	6: 6,863,807	Q143P	probably benign	Het
Dpp10	T	A	1: 123,341,619	Y687F	probably damaging	Het
Eif2b1	A	G	5: 124,571,831	V228A	probably benign	Het
Enpep	T	C	3: 129,298,950	D528G	probably damaging	Het
Fbxo6	G	A	4: 148,146,122	Q228*	probably null	Het
Iars	T	A	13: 49,690,489	N146K	possibly damaging	Het
Kctd9	T	A	14: 67,734,279	S268T	probably benign	Het
Kifap3	G	A	1: 163,888,277	V749M	probably benign	Het
Mdm4	T	C	1: 133,011,071	D94G	probably damaging	Het
Mllt10	T	G	2: 18,065,036	M1R	probably null	Het
Mtcl1	T	C	17: 66,344,198	Y1424C	probably damaging	Het
Mybpc2	A	T	7: 44,511,897	I549N	possibly damaging	Het
Myocd	T	C	11: 65,218,685	T87A	probably benign	Het
Nr3c2	T	G	8: 77,187,638	Y824*	probably null	Het
Olfr1270	A	G	2: 90,149,833	Y58H	probably damaging	Het
Olfr1437	T	C	19: 12,322,654	T58A	possibly damaging	Het
Olfr1447	T	C	19: 12,901,757	T8A	possibly damaging	Het
Olfr551	G	A	7: 102,587,940	H268Y	probably benign	Het
Olfr791	A	T	10: 129,526,658	I144F	probably benign	Het
Omg	T	A	11: 79,502,121	T304S	possibly damaging	Het
Pde3a	G	A	6: 141,492,400		probably benign	Het
Phf20l1	A	G	15: 66,597,403	K129E	probably damaging	Het
Phka2	G	T	X: 160,577,550	E858*	probably null	Het
Pp2d1	T	C	17: 53,508,053	T548A	possibly damaging	Het
Prr14l	G	A	5: 32,827,438	A1571V	possibly damaging	Het
Rbms3	A	G	9: 117,251,811		probably benign	Het
Sparcl1	T	C	5: 104,093,237	E107G	probably damaging	Het
Stra6l	A	G	4: 45,885,392	D620G	probably benign	Het
Traf3ip2	A	T	10: 39,626,219	K121I	probably damaging	Het
Ttc34	T	C	4: 154,861,183	S734P	probably damaging	Het
Zfp953	C	T	13: 67,343,462	C142Y	probably damaging	Het
Zfp955b	T	A	17: 33,302,168	C204S	probably benign	Het

Other mutations in Cpox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Cpox	APN	16	58674424	missense	possibly damaging	0.87
IGL03031:Cpox	APN	16	58672560	missense	probably damaging	1.00
scraggy	UTSW	16	58670935	missense	probably damaging	1.00
R0413:Cpox	UTSW	16	58670869	missense	possibly damaging	0.52
R0523:Cpox	UTSW	16	58675245	nonsense	probably null
R0551:Cpox	UTSW	16	58675390	missense	probably benign	0.11
R2064:Cpox	UTSW	16	58674409	missense	probably benign	0.36
R4651:Cpox	UTSW	16	58670687	missense	possibly damaging	0.92
R4701:Cpox	UTSW	16	58677969	nonsense	probably null
R4782:Cpox	UTSW	16	58672623	missense	probably damaging	1.00
R5285:Cpox	UTSW	16	58675286	missense	probably damaging	1.00
R5287:Cpox	UTSW	16	58675286	missense	probably damaging	1.00
R5313:Cpox	UTSW	16	58677948	nonsense	probably null
R5346:Cpox	UTSW	16	58675286	missense	probably damaging	1.00
R5354:Cpox	UTSW	16	58670842	missense	probably damaging	0.99
R5404:Cpox	UTSW	16	58675286	missense	probably damaging	1.00
R5476:Cpox	UTSW	16	58678725	missense	probably damaging	0.99
R5853:Cpox	UTSW	16	58675417	missense	probably damaging	0.99
R6026:Cpox	UTSW	16	58670935	missense	probably damaging	1.00
R7059:Cpox	UTSW	16	58670927	missense	probably damaging	1.00
R7061:Cpox	UTSW	16	58670860	missense	possibly damaging	0.76
R7606:Cpox	UTSW	16	58674449	missense	probably benign	0.16
RF059:Cpox	UTSW	16	58670767	missense	probably benign	0.00

Posted On

2016-08-02