Mutagenetix > Incidental Mutation

Incidental Mutation 'R4230:Urod'

320777

Institutional Source

Beutler Lab

Gene Symbol

Urod

Ensembl Gene

ENSMUSG00000028684

Gene Name

uroporphyrinogen decarboxylase

Synonyms

Uro-d

MMRRC Submission

041049-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4230 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116847162-116851610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116849880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 173 (T173S)

Ref Sequence

ENSEMBL: ENSMUSP00000030446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030446] [ENSMUST00000044823] [ENSMUST00000050067] [ENSMUST00000130273]

AlphaFold

P70697

Predicted Effect

probably benign
Transcript: ENSMUST00000030446
AA Change: T173S

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684
AA Change: T173S

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

probably benign
Transcript: ENSMUST00000050067

SMART Domains

Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861

Domain	Start	End	E-Value	Type
low complexity region	26	41	N/A	INTRINSIC
low complexity region	68	81	N/A	INTRINSIC
APC10	237	391	6.75e-23	SMART
HECTc	514	857	1.27e-30	SMART

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: ENSMUST00000139816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150370

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Alg11	T	A	8: 22,555,534 (GRCm39)	I223N	probably damaging	Het
Ankrd26	G	C	6: 118,536,349 (GRCm39)		probably null	Het
Apbb1	T	C	7: 105,216,891 (GRCm39)	D264G	probably damaging	Het
Arhgap32	T	C	9: 32,168,770 (GRCm39)	Y918H	probably benign	Het
Astn2	T	G	4: 65,829,919 (GRCm39)	T584P	probably damaging	Het
Atxn7	G	A	14: 14,100,381 (GRCm38)	S689N	probably benign	Het
Cacna1h	T	C	17: 25,606,837 (GRCm39)	N873S	probably damaging	Het
Cadps	T	A	14: 12,488,987 (GRCm38)	I857F	probably damaging	Het
Cfap119	T	A	7: 127,186,002 (GRCm39)	M102L	probably benign	Het
Cog6	T	C	3: 52,900,229 (GRCm39)	T511A	probably benign	Het
Dppa3	A	T	6: 122,606,291 (GRCm39)	N118I	probably damaging	Het
Dst	A	G	1: 34,234,909 (GRCm39)	N3663D	probably benign	Het
Eif1ad14	A	T	12: 87,886,567 (GRCm39)	S21T	unknown	Het
Eme1	G	A	11: 94,538,818 (GRCm39)	T354M	possibly damaging	Het
Gm10735	T	C	13: 113,177,743 (GRCm39)		probably benign	Het
Ifi44l	A	T	3: 151,468,514 (GRCm39)	C5*	probably null	Het
Itln1	G	A	1: 171,362,375 (GRCm39)	T2I	probably benign	Het
Jam2	T	A	16: 84,618,180 (GRCm39)	M309K	possibly damaging	Het
Kcnk5	C	A	14: 20,194,852 (GRCm39)	C162F	probably damaging	Het
Metrn	A	G	17: 26,015,915 (GRCm39)		probably benign	Het
Muc5b	T	A	7: 141,417,259 (GRCm39)	Y3402N	probably benign	Het
Ncoa7	A	T	10: 30,574,253 (GRCm39)		probably null	Het
Nxpe4	A	G	9: 48,304,122 (GRCm39)	R70G	possibly damaging	Het
Onecut3	T	C	10: 80,349,793 (GRCm39)	I429T	probably damaging	Het
Or2n1	A	C	17: 38,486,772 (GRCm39)	I266L	possibly damaging	Het
Or2z9	T	C	8: 72,854,188 (GRCm39)	Y195H	probably damaging	Het
Or4k37	T	G	2: 111,159,475 (GRCm39)	L237R	probably damaging	Het
Or52e18	A	T	7: 104,609,801 (GRCm39)	I46N	probably benign	Het
Pds5a	A	G	5: 65,787,329 (GRCm39)	S858P	possibly damaging	Het
Phf11c	A	T	14: 59,630,516 (GRCm39)	V63E	probably benign	Het
Rasa3	A	G	8: 13,620,264 (GRCm39)	F802L	possibly damaging	Het
Sec24b	G	T	3: 129,834,368 (GRCm39)	Q141K	probably benign	Het
Sec61a1	A	T	6: 88,492,413 (GRCm39)		probably null	Het
Slc45a3	T	A	1: 131,909,399 (GRCm39)	L532Q	probably damaging	Het
Slc46a2	T	C	4: 59,914,048 (GRCm39)	I292V	probably benign	Het
Smg1	C	T	7: 117,747,956 (GRCm39)		probably null	Het
Spag6	T	A	2: 18,720,449 (GRCm39)		probably null	Het
Spi1	T	C	2: 90,945,680 (GRCm39)	F254L	probably damaging	Het
Sspo	T	C	6: 48,467,868 (GRCm39)	S4272P	probably benign	Het
Tgm5	T	C	2: 120,901,216 (GRCm39)	T292A	probably damaging	Het
Tmem229a	T	A	6: 24,954,831 (GRCm39)	I308F	probably damaging	Het
Ttn	T	C	2: 76,554,464 (GRCm39)	I30784V	possibly damaging	Het
Vmn1r223	A	T	13: 23,433,585 (GRCm39)	M60L	probably benign	Het
Vmn2r2	T	A	3: 64,041,912 (GRCm39)	I268L	probably benign	Het
Vwa8	C	T	14: 79,320,292 (GRCm39)	T1101M	probably benign	Het
Zc3h12c	T	A	9: 52,055,728 (GRCm39)		probably null	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
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
R5277:Urod	UTSW	4	116,847,482 (GRCm39)	unclassified	probably benign
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'- ATCATTGGAGGAAAAGTAACATCCC -3'
(R):5'- TCACCCTTACTCGACAACGG -3'

Sequencing Primer
(F):5'- GGAGGAAAAGTAACATCCCTGCTTTC -3'
(R):5'- TTACTCGACAACGGCTGGC -3'

Posted On

2015-06-12