Incidental Mutation 'R5157:Upb1'
ID 396786
Institutional Source Beutler Lab
Gene Symbol Upb1
Ensembl Gene ENSMUSG00000033427
Gene Name ureidopropionase, beta
Synonyms
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5157 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 75242745-75277513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75248638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 53 (S53P)
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: S48P

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049342
Gene: ENSMUSG00000033427
AA Change: S48P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Guanylate_cyc_2 2 91 2.3e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000219052
AA Change: S53P

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1347 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,096 (GRCm39) R1266C probably damaging Het
Adap2 T C 11: 80,047,772 (GRCm39) F76S probably damaging Het
Adgb T A 10: 10,274,710 (GRCm39) H747L probably damaging Het
Aox1 T A 1: 58,109,222 (GRCm39) V670D probably damaging Het
Ap4e1 A G 2: 126,903,615 (GRCm39) D839G probably benign Het
Arhgef11 T A 3: 87,635,817 (GRCm39) probably null Het
AY074887 T C 9: 54,858,102 (GRCm39) probably benign Het
Bicd1 C G 6: 149,421,912 (GRCm39) Q878E probably benign Het
Catspere1 A T 1: 177,707,348 (GRCm39) noncoding transcript Het
Cnmd T C 14: 79,894,126 (GRCm39) Q87R probably benign Het
Col24a1 G T 3: 145,051,712 (GRCm39) G661* probably null Het
Crtap G A 9: 114,213,860 (GRCm39) L232F probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Cyp2d26 T C 15: 82,675,190 (GRCm39) Q388R probably benign Het
Ddb1 A T 19: 10,599,728 (GRCm39) T646S probably benign Het
Dnah6 G T 6: 73,172,617 (GRCm39) S280R probably benign Het
Dzank1 T C 2: 144,325,332 (GRCm39) H545R probably damaging Het
Ehhadh T A 16: 21,585,261 (GRCm39) M207L probably benign Het
Elmo2 T A 2: 165,133,627 (GRCm39) probably benign Het
Golga3 G A 5: 110,350,537 (GRCm39) A731T probably benign Het
Igsf21 T C 4: 139,755,378 (GRCm39) T426A possibly damaging Het
Kcnf1 T C 12: 17,224,742 (GRCm39) E493G probably benign Het
Lmna A T 3: 88,391,414 (GRCm39) D364E probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Map3k20 A T 2: 72,268,558 (GRCm39) T522S probably benign Het
Mroh9 C A 1: 162,871,690 (GRCm39) A598S probably damaging Het
Msln T C 17: 25,971,957 (GRCm39) M87V probably benign Het
Or14c39 A G 7: 86,344,440 (GRCm39) K259E probably benign Het
Or1e26 T C 11: 73,480,549 (GRCm39) N5S probably damaging Het
Or4a27 T A 2: 88,559,892 (GRCm39) Q17L probably benign Het
Or5d16 T A 2: 87,773,232 (GRCm39) M247L probably benign Het
Pals1 T A 12: 78,867,589 (GRCm39) M324K possibly damaging Het
Plekhg5 T A 4: 152,192,322 (GRCm39) probably benign Het
Pprc1 G T 19: 46,053,197 (GRCm39) probably benign Het
Ptprm T A 17: 67,264,092 (GRCm39) K385I probably benign Het
Rfxap T A 3: 54,711,938 (GRCm39) N215I probably damaging Het
Slc16a7 A T 10: 125,069,333 (GRCm39) Y114* probably null Het
Smarcb1 G T 10: 75,747,628 (GRCm39) probably benign Het
Spef2 T A 15: 9,668,877 (GRCm39) R770* probably null Het
Stard9 A T 2: 120,528,342 (GRCm39) Y1533F probably benign Het
Tbcd A T 11: 121,500,853 (GRCm39) Y1142F probably benign Het
Trappc2b A T 11: 51,576,893 (GRCm39) S2T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Uba7 G A 9: 107,857,246 (GRCm39) V703I probably benign Het
Zfp672 A G 11: 58,207,677 (GRCm39) S215P possibly damaging Het
Zfp978 T A 4: 147,475,437 (GRCm39) L328H probably damaging Het
Other mutations in Upb1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCCCTGTACTGGAAGCTTTC -3'
(R):5'- GCCAGAGCCCGATTTATGTG -3'

Sequencing Primer
(F):5'- GAGACACCCTACAACTCTTTTTAATC -3'
(R):5'- CCAGAGCCCGATTTATGTGTGTATTG -3'
Posted On 2016-06-21