Mutagenetix > Incidental Mutation

Incidental Mutation 'R0450:Upb1'

39618

Institutional Source

Beutler Lab

Gene Symbol

Upb1

Ensembl Gene

ENSMUSG00000033427

Gene Name

ureidopropionase, beta

Synonyms

MMRRC Submission

038650-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0450 (G1)

Quality Score

176

Status

Not validated

Chromosome

Chromosomal Location

75242745-75277513 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 75250917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151804 (fasta)

Gene Model

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

AlphaFold

Q8VC97

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: 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 null
Transcript: ENSMUST00000219052

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 94.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,875,579 (GRCm39)		probably null	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Etfbkmt	C	T	6: 149,052,082 (GRCm39)	R96W	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Glipr1l2	A	G	10: 111,928,477 (GRCm39)	D124G	probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Itpr2	T	C	6: 146,319,477 (GRCm39)	T188A	possibly damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mospd3	A	G	5: 137,595,294 (GRCm39)	L233P	probably damaging	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Smpdl3b	A	G	4: 132,472,449 (GRCm39)	V108A	probably damaging	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,157,534 (GRCm39)	S2364A	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het
Zfp729b	A	T	13: 67,739,253 (GRCm39)	V1004E	probably benign	Het

Other mutations in Upb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0419:Upb1	UTSW	10	75,248,717 (GRCm39)	missense	probably damaging	1.00
R0469:Upb1	UTSW	10	75,250,917 (GRCm39)	splice site	probably null
R0565:Upb1	UTSW	10	75,264,188 (GRCm39)	unclassified	probably benign
R1109:Upb1	UTSW	10	75,273,999 (GRCm39)	missense	probably damaging	1.00
R1439:Upb1	UTSW	10	75,275,776 (GRCm39)	missense	probably benign
R2001:Upb1	UTSW	10	75,265,803 (GRCm39)	missense	probably damaging	1.00
R2074:Upb1	UTSW	10	75,260,347 (GRCm39)	missense	probably damaging	1.00
R2254:Upb1	UTSW	10	75,272,051 (GRCm39)	missense	probably damaging	1.00
R2255:Upb1	UTSW	10	75,272,051 (GRCm39)	missense	probably damaging	1.00
R3773:Upb1	UTSW	10	75,275,672 (GRCm39)	splice site	probably null
R4696:Upb1	UTSW	10	75,250,861 (GRCm39)	missense	probably benign	0.22
R5157:Upb1	UTSW	10	75,248,638 (GRCm39)	missense	possibly damaging	0.78
R5723:Upb1	UTSW	10	75,264,105 (GRCm39)	missense	probably damaging	0.99
R6292:Upb1	UTSW	10	75,274,005 (GRCm39)	missense	probably damaging	1.00
R6335:Upb1	UTSW	10	75,264,135 (GRCm39)	missense	probably benign	0.09
R6577:Upb1	UTSW	10	75,248,723 (GRCm39)	missense	probably damaging	1.00
R6756:Upb1	UTSW	10	75,264,135 (GRCm39)	missense	possibly damaging	0.78
R6765:Upb1	UTSW	10	75,273,978 (GRCm39)	missense	probably damaging	1.00
R7069:Upb1	UTSW	10	75,248,602 (GRCm39)	missense	probably benign	0.00
R7094:Upb1	UTSW	10	75,274,042 (GRCm39)	missense	probably damaging	1.00
R7609:Upb1	UTSW	10	75,272,035 (GRCm39)	missense	probably benign	0.31
R7617:Upb1	UTSW	10	75,260,368 (GRCm39)	missense	probably benign	0.22
R7836:Upb1	UTSW	10	75,248,667 (GRCm39)	nonsense	probably null
R8743:Upb1	UTSW	10	75,275,710 (GRCm39)	missense	probably damaging	1.00
R8848:Upb1	UTSW	10	75,264,178 (GRCm39)	critical splice donor site	probably null
R8936:Upb1	UTSW	10	75,250,827 (GRCm39)	missense	probably benign	0.10
R9156:Upb1	UTSW	10	75,265,961 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GGGAGTTTCACTGTTCCATCTGCAC -3'
(R):5'- AATCCTGGCGACTGCTGATCTCAC -3'

Sequencing Primer
(F):5'- TGTTCCATCTGCACCAGGG -3'
(R):5'- tgagaggcagaggcagg -3'

Posted On

2013-05-23