Mutagenetix > Incidental Mutation

Incidental Mutation 'R9156:Upb1'

695389

Institutional Source

Beutler Lab

Gene Symbol

Upb1

Ensembl Gene

ENSMUSG00000033427

Gene Name

ureidopropionase, beta

Synonyms

MMRRC Submission

068974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75242745-75277513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75265961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 263 (L263F)

Ref Sequence

ENSEMBL: ENSMUSP00000049342 (fasta)

Gene Model

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

AlphaFold

Q8VC97

Predicted Effect

probably benign
Transcript: ENSMUST00000039925
AA Change: L263F

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049342
Gene: ENSMUSG00000033427
AA Change: L263F

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,647,957 (GRCm39)	L1150V	probably damaging	Het
AB124611	A	G	9: 21,455,989 (GRCm39)	D194G	possibly damaging	Het
Adgrv1	A	G	13: 81,669,302 (GRCm39)	L2418P	probably benign	Het
Ap3m1	A	G	14: 21,090,152 (GRCm39)	S213P	probably damaging	Het
Apobec2	A	T	17: 48,739,531 (GRCm39)	L36H		Het
Arrb1	A	G	7: 99,237,280 (GRCm39)	D78G		Het
Astn1	A	G	1: 158,338,555 (GRCm39)	Q434R	probably damaging	Het
Cadps	C	G	14: 12,705,676 (GRCm38)	D240H	probably damaging	Het
Cfhr4	A	G	1: 139,660,085 (GRCm39)	I680T	probably damaging	Het
Cmya5	A	C	13: 93,233,878 (GRCm39)	D403E	unknown	Het
Crxos	A	C	7: 15,631,436 (GRCm39)	I45L	probably benign	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah2	A	G	11: 69,313,687 (GRCm39)	I4204T		Het
Ei24	A	G	9: 36,697,327 (GRCm39)	S134P	probably damaging	Het
Eif2ak3	G	T	6: 70,860,614 (GRCm39)	V397F	probably damaging	Het
Eif4g2	T	C	7: 110,672,969 (GRCm39)	I134V		Het
Fam186a	A	G	15: 99,841,159 (GRCm39)	I1695T	possibly damaging	Het
Gcnt3	T	C	9: 69,941,939 (GRCm39)	M210V	probably damaging	Het
Gpatch8	A	G	11: 102,370,299 (GRCm39)	S1080P	probably benign	Het
Gtf3c1	A	G	7: 125,244,949 (GRCm39)	L1695P	possibly damaging	Het
Haus3	A	G	5: 34,324,994 (GRCm39)	F222L	probably damaging	Het
Kbtbd8	C	T	6: 95,099,825 (GRCm39)	Q445*	probably null	Het
Kcnc3	A	G	7: 44,240,592 (GRCm39)	N95D	probably damaging	Het
Krt40	C	T	11: 99,430,693 (GRCm39)		probably null	Het
Lgi1	A	G	19: 38,289,746 (GRCm39)	T271A	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Map3k21	A	G	8: 126,665,463 (GRCm39)	T551A	possibly damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Mug1	C	A	6: 121,851,390 (GRCm39)	D762E	probably damaging	Het
Myo1e	A	T	9: 70,266,605 (GRCm39)	N615I	probably damaging	Het
Or4k36	T	C	2: 111,145,827 (GRCm39)	M1T	probably null	Het
Or51f23	T	C	7: 102,453,339 (GRCm39)	L218P	probably damaging	Het
Pld5	T	C	1: 175,803,104 (GRCm39)	E387G	possibly damaging	Het
Pld5	A	G	1: 175,902,003 (GRCm39)	V195A	probably benign	Het
Rad54l	T	C	4: 115,980,349 (GRCm39)		probably benign	Het
Rnf123	A	T	9: 107,940,227 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,331,574 (GRCm39)	E2262G		Het
Rp1	C	A	1: 4,234,161 (GRCm39)	V910L	unknown	Het
Rpp21	A	T	17: 36,568,407 (GRCm39)	C23S	probably benign	Het
Scn11a	T	C	9: 119,588,989 (GRCm39)	M1306V	possibly damaging	Het
Scn2b	C	T	9: 45,036,734 (GRCm39)	L81F	possibly damaging	Het
Sco2	T	C	15: 89,256,363 (GRCm39)	D97G	probably damaging	Het
Slc25a54	T	C	3: 109,001,548 (GRCm39)	V112A	probably benign	Het
Slc5a11	A	T	7: 122,864,492 (GRCm39)	K363*	probably null	Het
Smg1	G	T	7: 117,753,884 (GRCm39)	T2563K	unknown	Het
Snap47	A	T	11: 59,319,290 (GRCm39)	S283T	probably damaging	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Stat1	G	T	1: 52,178,388 (GRCm39)	R274L	probably damaging	Het
Stoml1	A	G	9: 58,164,409 (GRCm39)	T166A		Het
Svs5	G	T	2: 164,079,509 (GRCm39)	Q133K	probably benign	Het
Tas2r107	T	A	6: 131,636,422 (GRCm39)	H209L	probably benign	Het
Tmco3	T	A	8: 13,360,228 (GRCm39)	V477D	possibly damaging	Het
Tmem131	A	T	1: 36,880,767 (GRCm39)	S168T	possibly damaging	Het
Tmem41a	T	C	16: 21,755,859 (GRCm39)	N149S	probably damaging	Het
Ttll4	T	C	1: 74,719,225 (GRCm39)	F359L	probably benign	Het
Ttn	T	A	2: 76,785,162 (GRCm39)	M784L	unknown	Het
Ubr1	A	G	2: 120,703,603 (GRCm39)		probably null	Het
Ubxn2b	C	T	4: 6,214,646 (GRCm39)	P227S	probably damaging	Het
Usp15	T	A	10: 122,949,553 (GRCm39)	T935S	probably benign	Het
Zscan4-ps3	G	A	7: 11,347,164 (GRCm39)	C400Y	probably damaging	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
R0450:Upb1	UTSW	10	75,250,917 (GRCm39)	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TTCTGCTGAGTCTAAGGAAAGCAG -3'
(R):5'- CATCCAATCACGGAGCTGTG -3'

Sequencing Primer
(F):5'- TCTAAGGAAAGCAGAAGTGTTTCCAC -3'
(R):5'- TCACGGAGCTGTGATCTAGACATC -3'

Posted On

2022-01-20