Incidental Mutation 'R6292:Upb1'
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ID508509
Institutional Source Beutler Lab
Gene Symbol Upb1
Ensembl Gene ENSMUSG00000033427
Gene Nameureidopropionase, beta
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6292 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location75401115-75441679 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75438171 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 344 (L344P)
Ref Sequence ENSEMBL: ENSMUSP00000049342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039925] [ENSMUST00000145890]
Predicted Effect probably damaging
Transcript: ENSMUST00000039925
AA Change: L344P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049342
Gene: ENSMUSG00000033427
AA Change: L344P

DomainStartEndE-ValueType
Pfam:CN_hydrolase 73 352 8.3e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122673
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
Meta Mutation Damage Score 0.8136 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,200,251 V709E probably damaging Het
Ankrd33b C T 15: 31,325,085 probably null Het
Apaf1 T C 10: 90,991,563 T1202A possibly damaging Het
Apip G T 2: 103,092,467 C210F probably benign Het
Chd9 A T 8: 90,932,922 H170L probably benign Het
Clec16a T C 16: 10,560,151 probably null Het
Ep300 T A 15: 81,616,734 probably benign Het
Etl4 C T 2: 20,743,573 H39Y probably damaging Het
Gdap1l1 A T 2: 163,451,507 I218F probably damaging Het
Gm5141 A T 13: 62,774,438 C306S probably damaging Het
Gm9961 C T 16: 11,930,472 noncoding transcript Het
Gpr27 C T 6: 99,693,658 S327L possibly damaging Het
Hectd3 A C 4: 116,998,808 T435P probably damaging Het
Hs3st1 T A 5: 39,614,790 Q170L possibly damaging Het
Hykk T C 9: 54,920,826 probably null Het
Lilra5 T C 7: 4,238,339 S92P possibly damaging Het
Lrig1 A T 6: 94,616,445 N418K probably damaging Het
Miga1 A G 3: 152,317,719 F232L probably benign Het
Mkrn2 T A 6: 115,613,334 M217K probably damaging Het
Myh7b A T 2: 155,632,396 Q1677L probably damaging Het
N4bp1 T C 8: 86,853,239 E645G probably damaging Het
Nckap5 T C 1: 125,915,015 K1752E probably damaging Het
Nek1 A G 8: 61,054,736 probably null Het
Ntng1 T C 3: 110,143,886 probably benign Het
Nup133 A G 8: 123,917,437 V730A probably benign Het
Olfr314 T A 11: 58,786,237 M1K probably null Het
Olfr620 T A 7: 103,612,179 H58L probably damaging Het
Paqr6 C T 3: 88,367,898 P213S probably damaging Het
Pign A T 1: 105,585,077 V627D possibly damaging Het
Rasal1 T A 5: 120,659,620 V139E probably damaging Het
Scgb1b24 G T 7: 33,744,152 A79S possibly damaging Het
Slc25a28 T C 19: 43,664,592 D210G probably benign Het
Slc38a3 A T 9: 107,655,154 I393N possibly damaging Het
Slc41a2 T C 10: 83,254,926 N465D probably damaging Het
Slc5a5 G A 8: 70,891,178 T160I probably damaging Het
Smarca2 C T 19: 26,630,892 A117V probably damaging Het
Sorcs2 C T 5: 36,062,587 R371H probably damaging Het
Taf4 A G 2: 179,923,987 S872P probably damaging Het
Tdrd3 G T 14: 87,506,254 C540F probably benign Het
Thumpd1 A T 7: 119,720,674 L23Q probably benign Het
Top1 A T 2: 160,698,141 Y213F probably benign Het
Txndc5 T C 13: 38,528,184 probably null Het
Unc79 C A 12: 103,142,732 A2005D possibly damaging Het
Vmn1r72 T A 7: 11,669,652 S290C probably benign Het
Vmn2r103 A G 17: 19,793,604 I219M possibly damaging Het
Wapl A G 14: 34,729,195 T729A probably damaging Het
Washc5 C T 15: 59,355,934 R393H probably damaging Het
Other mutations in Upb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0419:Upb1 UTSW 10 75412883 missense probably damaging 1.00
R0450:Upb1 UTSW 10 75415083 splice site probably null
R0469:Upb1 UTSW 10 75415083 splice site probably null
R0565:Upb1 UTSW 10 75428354 unclassified probably benign
R1109:Upb1 UTSW 10 75438165 missense probably damaging 1.00
R1439:Upb1 UTSW 10 75439942 missense probably benign
R2001:Upb1 UTSW 10 75429969 missense probably damaging 1.00
R2074:Upb1 UTSW 10 75424513 missense probably damaging 1.00
R2254:Upb1 UTSW 10 75436217 missense probably damaging 1.00
R2255:Upb1 UTSW 10 75436217 missense probably damaging 1.00
R3773:Upb1 UTSW 10 75439838 splice site probably null
R4696:Upb1 UTSW 10 75415027 missense probably benign 0.22
R5157:Upb1 UTSW 10 75412804 missense possibly damaging 0.78
R5723:Upb1 UTSW 10 75428271 missense probably damaging 0.99
R6335:Upb1 UTSW 10 75428301 missense probably benign 0.09
R6577:Upb1 UTSW 10 75412889 missense probably damaging 1.00
R6756:Upb1 UTSW 10 75428301 missense possibly damaging 0.78
R6765:Upb1 UTSW 10 75438144 missense probably damaging 1.00
R7069:Upb1 UTSW 10 75412768 missense probably benign 0.00
R7094:Upb1 UTSW 10 75438208 missense probably damaging 1.00
R7609:Upb1 UTSW 10 75436201 missense probably benign 0.31
R7617:Upb1 UTSW 10 75424534 missense probably benign 0.22
R7836:Upb1 UTSW 10 75412833 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AATGCTTTCCCCTGGGTATC -3'
(R):5'- AGACCTTCTGCTTGCGCATC -3'

Sequencing Primer
(F):5'- TGGGTATCCTGCCATGGAC -3'
(R):5'- AGCCAGCAGAGTCTTAGCTCTC -3'
Posted On2018-03-15