Mutagenetix > Incidental Mutation

Incidental Mutation 'R5277:Urod'

403993

Institutional Source

Beutler Lab

Gene Symbol

Urod

Ensembl Gene

ENSMUSG00000028684

Gene Name

uroporphyrinogen decarboxylase

Synonyms

Uro-d

MMRRC Submission

042864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116847162-116851610 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 116847482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030446] [ENSMUST00000044823] [ENSMUST00000130273]

AlphaFold

P70697

Predicted Effect

probably benign
Transcript: ENSMUST00000030446

SMART Domains

Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684

Domain	Start	End	E-Value	Type
Pfam:URO-D	14	360	2.4e-135	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044823

SMART Domains

Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948

Domain	Start	End	E-Value	Type
low complexity region	35	56	N/A	INTRINSIC
low complexity region	119	182	N/A	INTRINSIC
low complexity region	692	708	N/A	INTRINSIC
low complexity region	982	995	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127635

Predicted Effect

probably benign
Transcript: ENSMUST00000130273

SMART Domains

Protein: ENSMUSP00000116154
Gene: ENSMUSG00000028684

Domain	Start	End	E-Value	Type
Pfam:URO-D	1	64	1.2e-18	PFAM
Pfam:URO-D	60	120	4e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139209

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: This gene encodes an enzyme that catalyzes the conversion of uroporphyrinogen-III to coproporphyrinogen-III, an intermediate step in heme biosynthesis. Homozygous knockout mice for this gene exhibit embryonic lethality. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous inactivation of this loci results in embryonic lethality. Though heterozygous mutant mice are overtly normal, they are susceptible to hepatic iron loading and porphyria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,884,660 (GRCm39)	T54A	probably damaging	Het
Ablim1	T	C	19: 57,143,693 (GRCm39)	R89G	probably damaging	Het
Bco1	T	A	8: 117,844,128 (GRCm39)		probably null	Het
Bhmt	A	T	13: 93,761,393 (GRCm39)	M185K	possibly damaging	Het
Camk2d	T	C	3: 126,478,390 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dcaf6	A	G	1: 165,251,915 (GRCm39)	S70P	probably benign	Het
Dclre1a	C	T	19: 56,533,164 (GRCm39)	V477I	possibly damaging	Het
Dnah10	C	T	5: 124,905,201 (GRCm39)	P4021L	probably damaging	Het
Dusp10	A	G	1: 183,769,204 (GRCm39)	N57D	possibly damaging	Het
Fam13b	G	A	18: 34,595,243 (GRCm39)	R374C	probably benign	Het
Fyb2	G	A	4: 104,872,876 (GRCm39)	D686N	probably damaging	Het
Glra3	G	A	8: 56,444,242 (GRCm39)	M67I	possibly damaging	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gm6180	A	G	8: 42,700,177 (GRCm39)		noncoding transcript	Het
Grin2c	A	G	11: 115,144,639 (GRCm39)	V629A	probably damaging	Het
Kif4-ps	A	T	12: 101,112,186 (GRCm39)		noncoding transcript	Het
Mc3r	T	C	2: 172,091,707 (GRCm39)	F310L	probably damaging	Het
Myh4	A	G	11: 67,143,180 (GRCm39)	D1036G	probably damaging	Het
Myh6	A	G	14: 55,194,019 (GRCm39)	I790T	probably benign	Het
Myo15a	C	A	11: 60,367,940 (GRCm39)	Y233*	probably null	Het
Nckap5	A	T	1: 125,954,277 (GRCm39)	C758*	probably null	Het
Neurog3	T	A	10: 61,969,632 (GRCm39)	Y36N	probably damaging	Het
Nlrp4e	T	C	7: 23,020,863 (GRCm39)	L450P	probably benign	Het
Or52d13	A	T	7: 103,110,148 (GRCm39)	L84H	probably damaging	Het
Otog	A	G	7: 45,896,045 (GRCm39)	E170G	possibly damaging	Het
Ppp2r2b	G	T	18: 42,874,207 (GRCm39)	T41K	probably damaging	Het
Prmt5	A	T	14: 54,747,399 (GRCm39)	D459E	probably benign	Het
Ric8b	G	A	10: 84,783,516 (GRCm39)	V125M	probably damaging	Het
Rptor	A	G	11: 119,713,782 (GRCm39)	S4G	probably damaging	Het
Rslcan18	T	G	13: 67,246,498 (GRCm39)	E371D	probably benign	Het
Scaf11	A	T	15: 96,317,107 (GRCm39)	F819Y	probably damaging	Het
Sema6a	A	T	18: 47,409,611 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,217,688 (GRCm39)	T163I	possibly damaging	Het
Sphkap	T	C	1: 83,253,885 (GRCm39)	N1288S	probably benign	Het
Tmbim7	G	A	5: 3,723,192 (GRCm39)		probably null	Het
Tmem63c	T	A	12: 87,104,531 (GRCm39)		probably null	Het
Tmem69	A	G	4: 116,410,458 (GRCm39)	F171L	probably benign	Het
Vmn1r37	A	T	6: 66,708,460 (GRCm39)	I29L	probably benign	Het
Vmn2r102	A	G	17: 19,914,393 (GRCm39)	T653A	possibly damaging	Het
Vmn2r75	A	C	7: 85,815,500 (GRCm39)	S121R	probably benign	Het
Vwde	T	C	6: 13,186,995 (GRCm39)	T831A	probably benign	Het
Wdr70	C	T	15: 8,006,465 (GRCm39)	W362*	probably null	Het
Zfat	A	G	15: 68,037,758 (GRCm39)	C906R	probably damaging	Het
Zfp7	T	C	15: 76,765,403 (GRCm39)	V32A	probably damaging	Het

Other mutations in Urod

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Urod	APN	4	116,847,581 (GRCm39)	missense	probably damaging	1.00
IGL02174:Urod	APN	4	116,847,479 (GRCm39)	unclassified	probably benign
P0042:Urod	UTSW	4	116,850,143 (GRCm39)	missense	probably damaging	1.00
R0650:Urod	UTSW	4	116,848,473 (GRCm39)	missense	probably benign	0.25
R3755:Urod	UTSW	4	116,850,601 (GRCm39)	missense	probably damaging	1.00
R4230:Urod	UTSW	4	116,849,880 (GRCm39)	missense	probably benign	0.39
R4731:Urod	UTSW	4	116,848,870 (GRCm39)	missense	possibly damaging	0.91
R4732:Urod	UTSW	4	116,848,870 (GRCm39)	missense	possibly damaging	0.91
R4733:Urod	UTSW	4	116,848,870 (GRCm39)	missense	possibly damaging	0.91
R7080:Urod	UTSW	4	116,849,838 (GRCm39)	missense	probably damaging	1.00
R8730:Urod	UTSW	4	116,850,729 (GRCm39)	intron	probably benign
R9701:Urod	UTSW	4	116,849,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTCTTCCCTGATACCTGAG -3'
(R):5'- TCTAGGAAGAGATCGGTCGG -3'

Sequencing Primer
(F):5'- GCCTTTAATTCCAGCACTTGAGAGG -3'
(R):5'- AAGAGATCGGTCGGCTGGTG -3'

Posted On

2016-07-22