Mutagenetix > Incidental Mutation

Incidental Mutation 'R4696:Upb1'

355709

Institutional Source

Beutler Lab

Gene Symbol

Upb1

Ensembl Gene

ENSMUSG00000033427

Gene Name

ureidopropionase, beta

Synonyms

MMRRC Submission

041946-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4696 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75242745-75277513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75250861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 110 (E110G)

Ref Sequence

ENSEMBL: ENSMUSP00000151804 (fasta)

Gene Model

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

AlphaFold

Q8VC97

Predicted Effect

probably benign
Transcript: ENSMUST00000039925
AA Change: E105G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000049342
Gene: ENSMUSG00000033427
AA Change: E105G

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 benign
Transcript: ENSMUST00000219052
AA Change: E110G

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (74/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,241,817 (GRCm39)	S1405G	probably benign	Het
Acaca	T	C	11: 84,171,261 (GRCm39)	V1165A	possibly damaging	Het
Acin1	C	A	14: 54,880,474 (GRCm39)		probably benign	Het
Akr1b8	G	A	6: 34,340,312 (GRCm39)	V159I	probably benign	Het
Alms1	T	C	6: 85,597,504 (GRCm39)	Y777H	probably damaging	Het
Cblc	C	A	7: 19,530,407 (GRCm39)	G101C	probably damaging	Het
Cdc42ep5	G	A	7: 4,154,614 (GRCm39)	P58L	possibly damaging	Het
Cic	A	G	7: 24,987,908 (GRCm39)	N1532S	probably benign	Het
Cipc	T	A	12: 86,999,714 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,617,146 (GRCm39)	I835V	probably benign	Het
Cntrob	C	T	11: 69,211,714 (GRCm39)	G170D	probably damaging	Het
Col14a1	A	G	15: 55,235,998 (GRCm39)	Q304R	unknown	Het
Csmd3	T	C	15: 47,777,364 (GRCm39)	T1181A	probably benign	Het
Dchs1	A	G	7: 105,413,834 (GRCm39)	F994L	probably damaging	Het
Ddx42	C	A	11: 106,138,529 (GRCm39)	A776D	probably benign	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dmpk	A	T	7: 18,822,139 (GRCm39)	N366Y	probably damaging	Het
Dmrt1	A	G	19: 25,580,674 (GRCm39)	Y362C	possibly damaging	Het
Dock10	C	T	1: 80,493,330 (GRCm39)	G1880D	possibly damaging	Het
Dzip1l	A	G	9: 99,545,664 (GRCm39)	R638G	possibly damaging	Het
Dzip3	T	A	16: 48,746,332 (GRCm39)		probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Eno4	T	C	19: 58,934,068 (GRCm39)	S90P	probably damaging	Het
Epn2	C	G	11: 61,426,129 (GRCm39)	A283P	probably damaging	Het
Eya3	T	A	4: 132,397,543 (GRCm39)	Y67*	probably null	Het
Fat2	T	C	11: 55,175,841 (GRCm39)	N1624S	probably benign	Het
Fez1	T	A	9: 36,781,766 (GRCm39)		probably null	Het
Fgfr1	T	C	8: 26,053,504 (GRCm39)	S260P	probably damaging	Het
Glb1	A	G	9: 114,293,220 (GRCm39)	S532G	probably benign	Het
Gm15455	A	T	1: 33,876,874 (GRCm39)		noncoding transcript	Het
Grid2ip	A	G	5: 143,377,131 (GRCm39)		probably benign	Het
Guca2b	C	A	4: 119,513,996 (GRCm39)	G129V	probably damaging	Het
Hes3	T	C	4: 152,372,124 (GRCm39)	E65G	probably damaging	Het
Itgbl1	T	C	14: 124,204,120 (GRCm39)	C404R	probably damaging	Het
Kansl1	C	T	11: 104,247,593 (GRCm39)	V586I	possibly damaging	Het
Krt18	A	G	15: 101,940,293 (GRCm39)	D390G	probably benign	Het
Laptm5	T	C	4: 130,660,982 (GRCm39)		probably benign	Het
Lgals3bp	C	T	11: 118,288,977 (GRCm39)	E116K	probably benign	Het
Lrrc39	C	T	3: 116,363,769 (GRCm39)	S114F	probably damaging	Het
Mfap3	T	C	11: 57,419,117 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,899,931 (GRCm39)	H481R	probably benign	Het
Ntm	T	C	9: 29,090,501 (GRCm39)	T73A	possibly damaging	Het
Or5m13b	T	A	2: 85,749,215 (GRCm39)		probably null	Het
Or8g4	T	A	9: 39,662,024 (GRCm39)	M114K	probably damaging	Het
Pbk	G	A	14: 66,049,386 (GRCm39)	C21Y	probably benign	Het
Pglyrp1	A	G	7: 18,618,871 (GRCm39)	E74G	probably benign	Het
R3hdm1	G	T	1: 128,164,503 (GRCm39)		probably benign	Het
Rap1gds1	T	C	3: 138,633,375 (GRCm39)	T599A	probably damaging	Het
Rigi	A	G	4: 40,203,798 (GRCm39)		probably benign	Het
Rims1	A	T	1: 22,358,836 (GRCm39)	M1273K	probably damaging	Het
Sbf1	G	A	15: 89,187,315 (GRCm39)	R721*	probably null	Het
Slc17a1	T	C	13: 24,064,700 (GRCm39)	I388T	probably damaging	Het
Sprn	A	C	7: 139,733,469 (GRCm39)		probably benign	Het
Tango6	T	C	8: 107,426,863 (GRCm39)	V459A	possibly damaging	Het
Tert	C	T	13: 73,775,939 (GRCm39)	T230I	probably benign	Het
Thada	T	C	17: 84,733,614 (GRCm39)	D1011G	possibly damaging	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trip11	A	T	12: 101,851,549 (GRCm39)	N838K	possibly damaging	Het
Ttn	A	G	2: 76,597,997 (GRCm39)	W19639R	probably damaging	Het
Ubr4	T	A	4: 139,135,983 (GRCm39)	S924T	probably benign	Het
Vegfa	C	T	17: 46,339,272 (GRCm39)		probably null	Het
Vmn1r231	T	C	17: 21,110,901 (GRCm39)	K5E	possibly damaging	Het
Vmn2r16	A	T	5: 109,487,168 (GRCm39)	I130F	probably benign	Het
Wscd2	T	A	5: 113,689,240 (GRCm39)	V82E	probably benign	Het
Zfp462	A	G	4: 55,008,612 (GRCm39)	T193A	probably benign	Het
Zfp467	A	G	6: 48,416,291 (GRCm39)		probably benign	Het
Zfp619	T	C	7: 39,186,412 (GRCm39)	L814P	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
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
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'- AGCTGCTTTTCTTCCAACAAACAC -3'
(R):5'- ACAGGCTCCTTGGTTTCTGG -3'

Sequencing Primer
(F):5'- TCTTCCAACAAACACTGTCTCC -3'
(R):5'- CTGGTCTACCAAGTGAATTCCAGG -3'

Posted On

2015-10-21