Mutagenetix > Incidental Mutation

Incidental Mutation 'R7080:Urod'

549455

Institutional Source

Beutler Lab

Gene Symbol

Urod

Ensembl Gene

ENSMUSG00000028684

Gene Name

uroporphyrinogen decarboxylase

Synonyms

Uro-d

MMRRC Submission

045174-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7080 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116847162-116851610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116849838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 187 (A187T)

Ref Sequence

ENSEMBL: ENSMUSP00000030446 (fasta)

Gene Model

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

AlphaFold

P70697

Predicted Effect

probably damaging
Transcript: ENSMUST00000030446
AA Change: A187T

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

SMART Domains

Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684
AA Change: A187T

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

94% (47/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,116 (GRCm39)	E2162G	probably benign	Het
Ackr4	A	G	9: 103,976,761 (GRCm39)	V62A	probably damaging	Het
Atox1	T	A	11: 55,341,365 (GRCm39)	K57*	probably null	Het
Atp6v1e1	G	A	6: 120,799,350 (GRCm39)		probably benign	Het
Bmpr2	T	C	1: 59,906,842 (GRCm39)	V645A	probably benign	Het
Brwd1	T	C	16: 95,810,730 (GRCm39)	T1602A	probably benign	Het
Cdc42bpg	T	C	19: 6,365,219 (GRCm39)	V692A	probably damaging	Het
Cdca2	T	C	14: 67,935,551 (GRCm39)	D388G	probably damaging	Het
Celsr1	G	A	15: 85,816,652 (GRCm39)	R1764C	possibly damaging	Het
Copz2	G	T	11: 96,747,538 (GRCm39)	V174L	probably benign	Het
Dnaaf1	T	C	8: 120,309,335 (GRCm39)	L141P	probably damaging	Het
Fam170a	T	A	18: 50,413,740 (GRCm39)		probably null	Het
Fshr	A	T	17: 89,404,539 (GRCm39)		probably null	Het
Gbx1	C	T	5: 24,731,298 (GRCm39)	A173T	probably benign	Het
Gm3604	G	A	13: 62,518,109 (GRCm39)	A83V	probably damaging	Het
Gpr19	A	T	6: 134,847,419 (GRCm39)	V88D	probably damaging	Het
Hnrnpd	C	T	5: 100,124,392 (GRCm39)		probably null	Het
Homez	T	C	14: 55,095,112 (GRCm39)	S199G	probably benign	Het
Kit	T	C	5: 75,767,941 (GRCm39)	I108T	probably damaging	Het
Lrrc34	A	C	3: 30,688,705 (GRCm39)	Y199D	probably damaging	Het
Mapk12	T	C	15: 89,017,350 (GRCm39)	D208G	probably damaging	Het
Mon1a	A	G	9: 107,778,985 (GRCm39)	D403G	probably damaging	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Nol11	G	A	11: 107,070,878 (GRCm39)	T307I	probably damaging	Het
Or10d5	A	G	9: 39,861,444 (GRCm39)	C208R	probably damaging	Het
Or52b4	A	T	7: 102,184,172 (GRCm39)	I73F	possibly damaging	Het
Or5aq1b	A	G	2: 86,902,083 (GRCm39)	Y132H	probably damaging	Het
Or6d15	A	T	6: 116,559,314 (GRCm39)	F198I	probably damaging	Het
Or8k28	A	T	2: 86,285,835 (GRCm39)	L260*	probably null	Het
Pcdhb16	C	T	18: 37,611,516 (GRCm39)	Q159*	probably null	Het
Phf19	G	A	2: 34,788,724 (GRCm39)		probably null	Het
Qrfpr	C	T	3: 36,234,198 (GRCm39)	R381H	probably benign	Het
Rad51ap2	A	G	12: 11,506,366 (GRCm39)	D96G	probably benign	Het
Ranbp1	T	C	16: 18,063,097 (GRCm39)	D93G	possibly damaging	Het
Reep1	A	G	6: 71,757,749 (GRCm39)	D116G	possibly damaging	Het
Rinl	T	C	7: 28,496,101 (GRCm39)	C361R	probably damaging	Het
Rps6kb1	T	C	11: 86,397,666 (GRCm39)	D393G	probably damaging	Het
Slc2a12	T	C	10: 22,541,216 (GRCm39)	V357A	probably benign	Het
Spryd3	T	C	15: 102,026,627 (GRCm39)	D348G	probably benign	Het
Syne2	G	A	12: 76,099,501 (GRCm39)	A569T	probably benign	Het
Tcstv5	T	C	13: 120,411,270 (GRCm39)	D112G	probably benign	Het
Thoc6	C	T	17: 23,892,503 (GRCm39)	R6Q	probably null	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Unc13b	C	T	4: 43,171,926 (GRCm39)	T918I	unknown	Het
Unc80	A	T	1: 66,685,680 (GRCm39)	H2268L	possibly damaging	Het
Usp46	G	T	5: 74,177,344 (GRCm39)	N205K	probably benign	Het
Wapl	T	C	14: 34,414,313 (GRCm39)	F392L	probably benign	Het
Zim1	T	C	7: 6,680,305 (GRCm39)	T453A	possibly 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
R5277:Urod	UTSW	4	116,847,482 (GRCm39)	unclassified	probably benign
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'- TGCTGACAGTCTCAGGAAGG -3'
(R):5'- CCACTAATTGGCTTTGCTGGTG -3'

Sequencing Primer
(F):5'- TCAGGGGTCGCATATCAGATCTC -3'
(R):5'- CTGGTGCTCCGGTAATGC -3'

Posted On

2019-05-15