Mutagenetix > Incidental Mutations

Incidental Mutation 'R3773:Upb1'

273443

Institutional Source

Beutler Lab

Gene Symbol

Upb1

Ensembl Gene

ENSMUSG00000033427

Gene Name

ureidopropionase, beta

Synonyms

MMRRC Submission

040749-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75401115-75441679 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 75439838 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039925] [ENSMUST00000145890]

Predicted Effect

probably null
Transcript: ENSMUST00000039925

SMART Domains

Protein: ENSMUSP00000049342
Gene: ENSMUSG00000033427

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	73	352	8.3e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122673

Predicted Effect

probably benign
Transcript: ENSMUST00000145890

SMART Domains

Protein: ENSMUSP00000123254
Gene: ENSMUSG00000033416

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C39_2	20	206	2.6e-10	PFAM
Pfam:Guanylate_cyc_2	22	210	4e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153125

SMART Domains

Protein: ENSMUSP00000117061
Gene: ENSMUSG00000033416

Domain	Start	End	E-Value	Type
Pfam:Guanylate_cyc_2	2	91	2.3e-35	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an enzyme that catalyzes the conversion of N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to beta-aminoisobutyric acid or beta-alanine. Mutations in the related gene in human have been associated with beta-ureidopropionase deficiency. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	C	17: 56,876,262	M1T	probably null	Het
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
A2ml1	T	A	6: 128,555,083	K899N	probably benign	Het
Adgrv1	G	A	13: 81,499,043	S3126L	probably damaging	Het
Apba3	C	A	10: 81,272,609		probably null	Het
Apobec4	G	T	1: 152,756,805	A195S	probably benign	Het
Asap3	C	T	4: 136,227,575	T72I	probably benign	Het
BC067074	A	G	13: 113,318,209	E263G	probably benign	Het
Cand2	T	A	6: 115,785,217	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Chd1	A	G	17: 17,374,651	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,126,219	K19E	probably benign	Het
Cyp17a1	T	G	19: 46,669,723	K250T	probably damaging	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dgcr8	T	C	16: 18,256,775	D712G	probably damaging	Het
Dsg2	T	C	18: 20,591,862	W442R	probably damaging	Het
Elavl2	C	T	4: 91,264,088	G131R	probably damaging	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,841,450	D270G	probably damaging	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,590,622	E109D	probably damaging	Het
Fry	A	T	5: 150,398,198	R999S	probably damaging	Het
Gak	G	A	5: 108,582,672	T956I	probably benign	Het
Gm6614	T	C	6: 141,972,335	K605R	probably benign	Het
Gm9008	C	T	6: 76,496,959	V225I	probably benign	Het
Gps2	T	C	11: 69,916,101	F21L	probably damaging	Het
Grhl3	C	T	4: 135,555,847	W303*	probably null	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Matk	T	A	10: 81,258,297	L21Q	probably benign	Het
Mthfr	T	C	4: 148,044,450	V160A	probably benign	Het
Nhlrc4	T	A	17: 25,943,393	K127*	probably null	Het
Nsd1	G	A	13: 55,246,673	V696I	probably benign	Het
Nup210l	T	G	3: 90,119,894	Y194*	probably null	Het
Olfr1497	T	A	19: 13,795,204	M136L	probably benign	Het
Olfr345	A	T	2: 36,640,321	Y94F	probably benign	Het
Olfr57	G	A	10: 79,035,180	C128Y	possibly damaging	Het
Olfr90	G	T	17: 37,086,065	Y33*	probably null	Het
Pcdhb15	T	A	18: 37,475,890	V725D	probably benign	Het
Pes1	A	G	11: 3,975,548	Y221C	probably damaging	Het
Prkd3	T	C	17: 78,959,106	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,477,121	E97G	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rims1	T	C	1: 22,421,810	D842G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rngtt	T	C	4: 33,330,889	I164T	probably damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Ska3	C	T	14: 57,810,077	V334I	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
Stxbp5	G	A	10: 9,768,927	T960I	probably damaging	Het
Suco	A	T	1: 161,843,996		probably null	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,694,880	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,898,586	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,091	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,889,615	*254W	probably null	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,424,095	V26A	probably damaging	Het
Vmn1r32	T	A	6: 66,553,367	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,544,711	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,589,657	D235G	probably benign	Het
Wnk1	C	T	6: 120,002,280	R282Q	possibly damaging	Het
Xrn2	T	C	2: 147,061,287	V765A	probably benign	Het
Zbed4	T	C	15: 88,780,847	S373P	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp423	A	T	8: 87,780,512	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zfp61	T	C	7: 24,295,981	M1V	probably null	Het

Other mutations in Upb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0419:Upb1	UTSW	10	75412883	missense	probably damaging	1.00
R0450:Upb1	UTSW	10	75415083	splice site	probably null
R0469:Upb1	UTSW	10	75415083	splice site	probably null
R0565:Upb1	UTSW	10	75428354	unclassified	probably benign
R1109:Upb1	UTSW	10	75438165	missense	probably damaging	1.00
R1439:Upb1	UTSW	10	75439942	missense	probably benign
R2001:Upb1	UTSW	10	75429969	missense	probably damaging	1.00
R2074:Upb1	UTSW	10	75424513	missense	probably damaging	1.00
R2254:Upb1	UTSW	10	75436217	missense	probably damaging	1.00
R2255:Upb1	UTSW	10	75436217	missense	probably damaging	1.00
R4696:Upb1	UTSW	10	75415027	missense	probably benign	0.22
R5157:Upb1	UTSW	10	75412804	missense	possibly damaging	0.78
R5723:Upb1	UTSW	10	75428271	missense	probably damaging	0.99
R6292:Upb1	UTSW	10	75438171	missense	probably damaging	1.00
R6335:Upb1	UTSW	10	75428301	missense	probably benign	0.09
R6577:Upb1	UTSW	10	75412889	missense	probably damaging	1.00
R6756:Upb1	UTSW	10	75428301	missense	possibly damaging	0.78
R6765:Upb1	UTSW	10	75438144	missense	probably damaging	1.00
R7069:Upb1	UTSW	10	75412768	missense	probably benign	0.00
R7094:Upb1	UTSW	10	75438208	missense	probably damaging	1.00
R7609:Upb1	UTSW	10	75436201	missense	probably benign	0.31
R7617:Upb1	UTSW	10	75424534	missense	probably benign	0.22
R7836:Upb1	UTSW	10	75412833	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGGTCATCACACAGCCATTC -3'
(R):5'- GCAGTTAAGTGCCTATTCTACCC -3'

Sequencing Primer
(F):5'- ACAGCCATTCTTTGTCTCAAATAGC -3'
(R):5'- GCCTGAGTATTAAAAACTCCGCCTTG -3'

Posted On

2015-03-25