Mutagenetix > Incidental Mutations

Incidental Mutation 'R0565:Upb1'

46132

Institutional Source

Beutler Lab

Gene Symbol

Upb1

Ensembl Gene

ENSMUSG00000033427

Gene Name

ureidopropionase, beta

Synonyms

MMRRC Submission

038756-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0565 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

75401115-75441679 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 75428354 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039925] [ENSMUST00000145890] [ENSMUST00000219052]

Predicted Effect

probably benign
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: ENSMUST00000129946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138058

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219052

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.6%

Validation Efficiency

100% (73/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,864,336	H1010L	probably benign	Het
A2ml1	C	A	6: 128,568,743	E474*	probably null	Het
Agtr1b	T	C	3: 20,315,674	H256R	probably damaging	Het
Amacr	C	T	15: 10,981,946	A46V	possibly damaging	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Caskin2	T	C	11: 115,801,016	E981G	probably damaging	Het
Ccdc88a	A	G	11: 29,461,042		probably benign	Het
Cd180	A	G	13: 102,702,874		probably benign	Het
Cemip	G	A	7: 83,964,110	H627Y	probably damaging	Het
Cep131	G	T	11: 120,073,762	H289Q	probably damaging	Het
Cep350	G	A	1: 155,961,195		probably benign	Het
Cfap52	A	T	11: 67,949,599	C169S	probably benign	Het
Cps1	A	T	1: 67,166,449	T544S	possibly damaging	Het
Cul7	T	C	17: 46,652,003	S187P	probably damaging	Het
Dhx40	C	A	11: 86,771,167	R688L	probably damaging	Het
E330034G19Rik	C	A	14: 24,306,917	Q174K	probably benign	Het
Efna5	T	C	17: 62,881,036	Y32C	probably damaging	Het
Ethe1	A	G	7: 24,607,889	H176R	probably benign	Het
Exoc3	A	G	13: 74,182,275		probably null	Het
Fam135b	T	A	15: 71,490,837	N232Y	possibly damaging	Het
Fam214b	A	T	4: 43,034,647		probably benign	Het
Fndc9	C	T	11: 46,238,157	L168F	probably damaging	Het
Fpr-rs3	G	A	17: 20,624,021	A286V	probably damaging	Het
Gm609	T	A	16: 45,444,173		probably benign	Het
Immt	T	A	6: 71,846,483		probably benign	Het
Ipo7	T	C	7: 110,049,593		probably benign	Het
Ipo8	A	T	6: 148,786,723	L747H	probably damaging	Het
Ireb2	A	T	9: 54,899,983	N610Y	probably damaging	Het
Irs2	A	G	8: 11,004,592	V1280A	probably damaging	Het
Kcnj3	T	A	2: 55,595,264	M458K	probably benign	Het
Kl	A	G	5: 150,980,944	K387R	possibly damaging	Het
L3mbtl2	C	A	15: 81,684,286		probably benign	Het
Lamb1	A	C	12: 31,298,915	I649L	probably benign	Het
Lipm	A	C	19: 34,116,506	L274F	probably benign	Het
Lrfn3	A	G	7: 30,360,791	V3A	probably benign	Het
Lrrc8c	A	C	5: 105,607,028	D223A	probably damaging	Het
Ltn1	C	A	16: 87,416,010	K554N	probably benign	Het
Mertk	T	C	2: 128,771,483	I473T	probably benign	Het
Mfsd12	C	A	10: 81,361,409	N245K	probably benign	Het
Mmp16	A	G	4: 17,987,705	D89G	probably damaging	Het
Myo5a	T	A	9: 75,180,112	N1083K	probably benign	Het
Ncapd3	C	T	9: 27,087,998	A1290V	probably benign	Het
Nefm	A	G	14: 68,124,621	S65P	probably damaging	Het
Nt5c2	C	T	19: 46,897,625	R220H	probably damaging	Het
Olfr1189	T	A	2: 88,592,009	D68E	probably benign	Het
Osbpl1a	A	T	18: 12,759,444	S438R	probably damaging	Het
Pcdhb5	T	C	18: 37,320,767	S67P	possibly damaging	Het
Per3	A	T	4: 151,033,952	I228N	probably damaging	Het
Pnpla7	T	G	2: 24,980,117		probably benign	Het
Ppp1r15b	G	T	1: 133,136,653		probably benign	Het
Psmd2	G	T	16: 20,660,426	L678F	probably null	Het
Ptch2	A	G	4: 117,106,143		probably benign	Het
Ranbp2	T	A	10: 58,476,336	D959E	probably benign	Het
Rph3al	C	T	11: 75,833,401		probably null	Het
Sec31b	T	A	19: 44,524,553	E499V	probably damaging	Het
Sel1l	T	C	12: 91,811,889	I667M	probably benign	Het
Sel1l	C	A	12: 91,813,945	V641L	possibly damaging	Het
Slc7a1	T	A	5: 148,352,069	I123F	probably damaging	Het
Smarca2	G	A	19: 26,681,875	R855Q	possibly damaging	Het
Sphk1	G	T	11: 116,536,358		probably benign	Het
Spink12	C	A	18: 44,104,688	S11*	probably null	Het
Sstr2	A	T	11: 113,625,619	I342F	probably benign	Het
Stxbp1	T	C	2: 32,819,848	T78A	probably benign	Het
Trim11	T	A	11: 58,990,584	S434R	probably damaging	Het
Ubr2	T	C	17: 46,955,886	E1113G	probably damaging	Het
Vit	T	A	17: 78,624,837	C458S	probably damaging	Het
Vmn1r58	T	C	7: 5,411,166	I22V	probably benign	Het
Vps25	T	C	11: 101,258,905		probably benign	Het
Wbp2	G	T	11: 116,082,385	D65E	possibly damaging	Het
Wdr72	A	G	9: 74,217,306	D980G	probably benign	Het
Xkr8	A	C	4: 132,730,917		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
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
R3773:Upb1	UTSW	10	75439838	splice site	probably null
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'- AACATGGTGGTGGTGTCTCCAATC -3'
(R):5'- AGCTCAGAGTCCCTTCATAAGCCC -3'

Sequencing Primer
(F):5'- TCCAATCTTGGAGCGTGATAGAG -3'
(R):5'- ACCGGAGTCATTTCACATTTG -3'

Posted On

2013-06-11