Mutagenetix > Incidental Mutation

Incidental Mutation 'R6292:Upb1'

508509

Institutional Source

Beutler Lab

Gene Symbol

Upb1

Ensembl Gene

ENSMUSG00000033427

Gene Name

ureidopropionase, beta

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75401115-75441679 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75438171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 344 (L344P)

Ref Sequence

ENSEMBL: ENSMUSP00000049342 (fasta)

Gene Model

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

AlphaFold

Q8VC97

Predicted Effect

probably damaging
Transcript: ENSMUST00000039925
AA Change: L344P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049342
Gene: ENSMUSG00000033427
AA Change: L344P

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

Meta Mutation Damage Score

0.8136

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,200,251	V709E	probably damaging	Het
Ankrd33b	C	T	15: 31,325,085		probably null	Het
Apaf1	T	C	10: 90,991,563	T1202A	possibly damaging	Het
Apip	G	T	2: 103,092,467	C210F	probably benign	Het
Chd9	A	T	8: 90,932,922	H170L	probably benign	Het
Clec16a	T	C	16: 10,560,151		probably null	Het
Ep300	T	A	15: 81,616,734		probably benign	Het
Etl4	C	T	2: 20,743,573	H39Y	probably damaging	Het
Gdap1l1	A	T	2: 163,451,507	I218F	probably damaging	Het
Gm5141	A	T	13: 62,774,438	C306S	probably damaging	Het
Gm9961	C	T	16: 11,930,472		noncoding transcript	Het
Gpr27	C	T	6: 99,693,658	S327L	possibly damaging	Het
Hectd3	A	C	4: 116,998,808	T435P	probably damaging	Het
Hs3st1	T	A	5: 39,614,790	Q170L	possibly damaging	Het
Hykk	T	C	9: 54,920,826		probably null	Het
Lilra5	T	C	7: 4,238,339	S92P	possibly damaging	Het
Lrig1	A	T	6: 94,616,445	N418K	probably damaging	Het
Miga1	A	G	3: 152,317,719	F232L	probably benign	Het
Mkrn2	T	A	6: 115,613,334	M217K	probably damaging	Het
Myh7b	A	T	2: 155,632,396	Q1677L	probably damaging	Het
N4bp1	T	C	8: 86,853,239	E645G	probably damaging	Het
Nckap5	T	C	1: 125,915,015	K1752E	probably damaging	Het
Nek1	A	G	8: 61,054,736		probably null	Het
Ntng1	T	C	3: 110,143,886		probably benign	Het
Nup133	A	G	8: 123,917,437	V730A	probably benign	Het
Olfr314	T	A	11: 58,786,237	M1K	probably null	Het
Olfr620	T	A	7: 103,612,179	H58L	probably damaging	Het
Paqr6	C	T	3: 88,367,898	P213S	probably damaging	Het
Pign	A	T	1: 105,585,077	V627D	possibly damaging	Het
Rasal1	T	A	5: 120,659,620	V139E	probably damaging	Het
Scgb1b24	G	T	7: 33,744,152	A79S	possibly damaging	Het
Slc25a28	T	C	19: 43,664,592	D210G	probably benign	Het
Slc38a3	A	T	9: 107,655,154	I393N	possibly damaging	Het
Slc41a2	T	C	10: 83,254,926	N465D	probably damaging	Het
Slc5a5	G	A	8: 70,891,178	T160I	probably damaging	Het
Smarca2	C	T	19: 26,630,892	A117V	probably damaging	Het
Sorcs2	C	T	5: 36,062,587	R371H	probably damaging	Het
Taf4	A	G	2: 179,923,987	S872P	probably damaging	Het
Tdrd3	G	T	14: 87,506,254	C540F	probably benign	Het
Thumpd1	A	T	7: 119,720,674	L23Q	probably benign	Het
Top1	A	T	2: 160,698,141	Y213F	probably benign	Het
Txndc5	T	C	13: 38,528,184		probably null	Het
Unc79	C	A	12: 103,142,732	A2005D	possibly damaging	Het
Vmn1r72	T	A	7: 11,669,652	S290C	probably benign	Het
Vmn2r103	A	G	17: 19,793,604	I219M	possibly damaging	Het
Wapl	A	G	14: 34,729,195	T729A	probably damaging	Het
Washc5	C	T	15: 59,355,934	R393H	probably damaging	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
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
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
R8743:Upb1	UTSW	10	75439876	missense	probably damaging	1.00
R8848:Upb1	UTSW	10	75428344	critical splice donor site	probably null
R8936:Upb1	UTSW	10	75414993	missense	probably benign	0.10
R9156:Upb1	UTSW	10	75430127	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AATGCTTTCCCCTGGGTATC -3'
(R):5'- AGACCTTCTGCTTGCGCATC -3'

Sequencing Primer
(F):5'- TGGGTATCCTGCCATGGAC -3'
(R):5'- AGCCAGCAGAGTCTTAGCTCTC -3'

Posted On

2018-03-15