Mutagenetix > Incidental Mutation

Incidental Mutation 'R6335:Upb1'

512918

Institutional Source

Beutler Lab

Gene Symbol

Upb1

Ensembl Gene

ENSMUSG00000033427

Gene Name

ureidopropionase, beta

Synonyms

MMRRC Submission

044489-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6335 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

75242745-75277513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75264135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 194 (T194S)

Ref Sequence

ENSEMBL: ENSMUSP00000049342 (fasta)

Gene Model

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

AlphaFold

Q8VC97

Predicted Effect

probably benign
Transcript: ENSMUST00000039925
AA Change: T194S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000049342
Gene: ENSMUSG00000033427
AA Change: T194S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11a	T	C	8: 12,909,481 (GRCm39)		probably null	Het
Best3	G	T	10: 116,838,556 (GRCm39)	V205F	probably benign	Het
C1qtnf1	A	G	11: 118,338,960 (GRCm39)	H210R	probably damaging	Het
Camkv	T	C	9: 107,823,894 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,849 (GRCm39)	D1200E	possibly damaging	Het
Cep192	T	A	18: 67,967,784 (GRCm39)	I756N	probably damaging	Het
Crocc2	A	T	1: 93,130,560 (GRCm39)	Q947L	probably benign	Het
Dcaf1	A	G	9: 106,715,845 (GRCm39)	T321A	possibly damaging	Het
Dgkz	T	C	2: 91,774,724 (GRCm39)	M87V	probably benign	Het
Dmrt2	T	A	19: 25,650,935 (GRCm39)	S40R	possibly damaging	Het
Dpep1	T	G	8: 123,927,391 (GRCm39)	L315R	probably damaging	Het
Fam221b	G	T	4: 43,665,942 (GRCm39)	T223N	possibly damaging	Het
Fasn	A	T	11: 120,706,185 (GRCm39)	V1053E	probably damaging	Het
Galc	T	C	12: 98,208,973 (GRCm39)	D227G	probably damaging	Het
Grik1	A	G	16: 87,744,794 (GRCm39)	L486P	probably damaging	Het
Grik5	A	G	7: 24,713,019 (GRCm39)	S836P	probably benign	Het
Grpel2	T	C	18: 61,852,792 (GRCm39)	K70R	possibly damaging	Het
Ipo7	A	G	7: 109,617,675 (GRCm39)	D15G	possibly damaging	Het
Iqgap1	A	G	7: 80,377,772 (GRCm39)	Y1284H	probably damaging	Het
Lmo7	T	C	14: 102,138,072 (GRCm39)	S692P	probably damaging	Het
Mecom	A	G	3: 30,034,905 (GRCm39)	L447P	probably damaging	Het
Mtor	A	G	4: 148,550,384 (GRCm39)	D680G	probably damaging	Het
Muc16	T	A	9: 18,572,004 (GRCm39)	I172F	unknown	Het
Musk	A	G	4: 58,366,811 (GRCm39)	I476M	probably benign	Het
Myef2	T	C	2: 124,951,632 (GRCm39)	T268A	probably damaging	Het
Naip1	A	G	13: 100,563,060 (GRCm39)	S702P	probably damaging	Het
Napa	G	T	7: 15,849,562 (GRCm39)	S258I	probably benign	Het
Nfasc	T	A	1: 132,504,132 (GRCm39)	I1039F	probably damaging	Het
Nlrc5	A	G	8: 95,228,902 (GRCm39)	S1238G	probably benign	Het
Or10q12	T	C	19: 13,746,144 (GRCm39)	V146A	probably benign	Het
Or1j12	A	G	2: 36,342,734 (GRCm39)	I46V	probably benign	Het
Or5w8	T	A	2: 87,687,811 (GRCm39)	C97*	probably null	Het
Pacs1	G	T	19: 5,210,005 (GRCm39)	N215K	probably damaging	Het
Parp10	A	G	15: 76,126,388 (GRCm39)	S267P	probably benign	Het
Pbrm1	G	T	14: 30,806,052 (GRCm39)	C995F	probably damaging	Het
Pcdh7	A	T	5: 58,099,607 (GRCm39)		probably null	Het
Ppef2	T	C	5: 92,383,613 (GRCm39)	Y499C	probably damaging	Het
Pramel16	G	T	4: 143,675,602 (GRCm39)	T408K	probably benign	Het
Prex2	A	C	1: 11,180,544 (GRCm39)	I370L	probably benign	Het
Ptprd	A	G	4: 75,872,420 (GRCm39)	Y1350H	probably damaging	Het
Rasgrp1	T	C	2: 117,124,351 (GRCm39)	K284E	probably damaging	Het
Rexo1	A	T	10: 80,379,915 (GRCm39)	Y23N	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sash3	C	T	X: 47,248,398 (GRCm39)	L307F	probably damaging	Homo
Scn9a	T	A	2: 66,398,608 (GRCm39)	M1L	possibly damaging	Het
Serpinb6e	C	A	13: 34,021,805 (GRCm39)	L174F	probably benign	Het
Siae	C	T	9: 37,544,277 (GRCm39)	T275I	probably benign	Het
Sptbn5	C	A	2: 119,884,900 (GRCm39)		probably benign	Het
Ss18l2	C	T	9: 121,541,672 (GRCm39)	T55I	probably damaging	Het
Taf1c	A	G	8: 120,328,518 (GRCm39)	C163R	probably damaging	Het
Tanc2	C	T	11: 105,748,382 (GRCm39)	R505W	probably damaging	Het
Tango6	C	A	8: 107,419,308 (GRCm39)	P285Q	possibly damaging	Het
Tdrd9	G	T	12: 112,008,186 (GRCm39)		probably null	Het
Tead3	A	T	17: 28,552,299 (GRCm39)	L307H	probably damaging	Het
Ticrr	A	C	7: 79,344,031 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,224,995 (GRCm39)		probably null	Het
Vav3	A	G	3: 109,470,512 (GRCm39)	N566S	probably benign	Het
Vmn1r196	T	A	13: 22,477,887 (GRCm39)	S175R	probably benign	Het
Zscan29	T	C	2: 120,991,917 (GRCm39)	N589D	possibly 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
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'- AGTGAAAGAGTAACAATCTACCCG -3'
(R):5'- CATGCTGCTAAAAGGTTTTGTGAC -3'

Sequencing Primer
(F):5'- CCCGAAAGAGAACATGATGGTTTTC -3'
(R):5'- CTGTGTGATGCAGGGCAAC -3'

Posted On

2018-04-27