Incidental Mutation 'IGL02517:Ubr1'
ID296812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubr1
Ensembl Gene ENSMUSG00000027272
Gene Nameubiquitin protein ligase E3 component n-recognin 1
SynonymsE3 alpha
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.757) question?
Stock #IGL02517
Quality Score
Status
Chromosome2
Chromosomal Location120860269-120970715 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 120864373 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Glycine at position 1693 (C1693G)
Ref Sequence ENSEMBL: ENSMUSP00000028728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028728]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028728
AA Change: C1693G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: C1693G

DomainStartEndE-ValueType
ZnF_UBR1 97 167 1.24e-35 SMART
Pfam:ClpS 221 301 8e-24 PFAM
low complexity region 918 936 N/A INTRINSIC
low complexity region 1017 1030 N/A INTRINSIC
low complexity region 1070 1081 N/A INTRINSIC
Blast:RING 1101 1203 4e-34 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171483
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,958,868 E1899G probably damaging Het
Acnat2 A T 4: 49,380,639 C228* probably null Het
Acnat2 T G 4: 49,380,647 M244L possibly damaging Het
Adam24 T C 8: 40,680,179 S229P probably damaging Het
Alpk3 T C 7: 81,077,895 S258P probably benign Het
Atad2b A G 12: 5,018,037 T1012A probably benign Het
C4b A T 17: 34,734,408 S1034T probably benign Het
Cd300ld2 T A 11: 115,010,423 H277L possibly damaging Het
Chrna4 C T 2: 181,029,133 V277I probably benign Het
Col3a1 A G 1: 45,325,803 probably null Het
Dpep2 C T 8: 105,988,756 V369M probably damaging Het
Eml2 T A 7: 19,206,130 N815K probably damaging Het
Enpp3 A G 10: 24,809,848 probably benign Het
Git1 T C 11: 77,499,587 V86A probably benign Het
Hivep2 C T 10: 14,131,182 P1175S probably benign Het
Hydin T C 8: 110,566,972 I3517T probably benign Het
Ift172 T A 5: 31,253,648 probably null Het
Jmy A G 13: 93,452,808 I647T probably benign Het
Kifap3 T A 1: 163,825,871 probably benign Het
Lama3 G A 18: 12,537,858 probably null Het
Lipa A C 19: 34,494,122 I351S possibly damaging Het
Ltbp2 G T 12: 84,785,317 A1631D probably benign Het
Masp2 A G 4: 148,614,020 I519M probably damaging Het
Mfsd6 A G 1: 52,663,277 probably benign Het
Numa1 T G 7: 102,012,009 D1846E probably benign Het
Olfr12 A T 1: 92,620,461 Y185F probably benign Het
Olfr1440 A T 19: 12,394,901 I213F probably benign Het
Olfr745 A G 14: 50,643,201 T301A probably benign Het
Olfr918 T C 9: 38,672,913 Y177C probably damaging Het
Olfr968 T G 9: 39,772,504 T99P probably damaging Het
Oog3 A T 4: 144,159,350 I226K probably damaging Het
Pkdcc T C 17: 83,223,866 S435P probably damaging Het
Ppm1g A G 5: 31,208,081 Y70H probably damaging Het
Prcc C T 3: 87,869,677 S330N probably damaging Het
Ror2 A T 13: 53,118,840 L251Q probably damaging Het
Scn11a A G 9: 119,792,398 L651P probably damaging Het
Skint6 A T 4: 112,948,540 probably benign Het
Slc23a4 A G 6: 34,954,982 F186L probably benign Het
Slc30a8 A T 15: 52,335,134 D325V probably benign Het
Son C T 16: 91,655,211 T282M possibly damaging Het
Tas2r118 A T 6: 23,969,892 F57I probably damaging Het
Tcf7l1 A G 6: 72,629,983 S447P probably benign Het
Thsd1 T A 8: 22,243,438 V167E probably damaging Het
Tle3 T C 9: 61,414,781 V696A probably damaging Het
Tmem67 A T 4: 12,069,463 I405K possibly damaging Het
Tmem71 A C 15: 66,541,617 V202G probably benign Het
Trim6 T C 7: 104,232,357 probably benign Het
Trip12 A G 1: 84,743,814 probably benign Het
Ush2a G A 1: 188,915,998 R4600H probably damaging Het
Vil1 A G 1: 74,426,692 I547M probably benign Het
Vmn1r219 A T 13: 23,163,096 I152L probably benign Het
Vmn1r26 A G 6: 58,009,142 F21L possibly damaging Het
Vmn2r45 T A 7: 8,483,186 K368* probably null Het
Vmn2r68 C T 7: 85,221,945 W710* probably null Het
Zfp808 T A 13: 62,173,218 *754R probably null Het
Zyg11b C T 4: 108,266,318 E151K probably damaging Het
Other mutations in Ubr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Ubr1 APN 2 120875407 missense possibly damaging 0.65
IGL00570:Ubr1 APN 2 120941093 missense possibly damaging 0.93
IGL00990:Ubr1 APN 2 120930872 missense probably damaging 1.00
IGL01124:Ubr1 APN 2 120914905 missense probably benign
IGL01346:Ubr1 APN 2 120873122 critical splice donor site probably null
IGL01368:Ubr1 APN 2 120941131 splice site probably benign
IGL01539:Ubr1 APN 2 120926013 missense possibly damaging 0.79
IGL01862:Ubr1 APN 2 120934342 missense possibly damaging 0.81
IGL01965:Ubr1 APN 2 120875398 missense probably damaging 0.99
IGL01984:Ubr1 APN 2 120921386 missense probably damaging 0.99
IGL02184:Ubr1 APN 2 120900508 missense probably benign 0.00
IGL02208:Ubr1 APN 2 120946349 missense probably benign 0.00
IGL02415:Ubr1 APN 2 120970603 utr 5 prime probably benign
IGL02614:Ubr1 APN 2 120870979 splice site probably benign
IGL02627:Ubr1 APN 2 120940991 missense probably damaging 1.00
IGL02718:Ubr1 APN 2 120914883 missense probably damaging 1.00
IGL02741:Ubr1 APN 2 120941091 missense probably benign 0.01
IGL02939:Ubr1 APN 2 120881183 critical splice acceptor site probably null
IGL03081:Ubr1 APN 2 120961156 missense possibly damaging 0.83
IGL03310:Ubr1 APN 2 120864417 missense probably damaging 1.00
IGL03370:Ubr1 APN 2 120895160 missense probably benign
I1329:Ubr1 UTSW 2 120934294 splice site probably benign
R0022:Ubr1 UTSW 2 120961173 splice site probably benign
R0345:Ubr1 UTSW 2 120904103 synonymous probably null
R0373:Ubr1 UTSW 2 120946657 missense probably benign 0.01
R0393:Ubr1 UTSW 2 120906946 missense probably damaging 1.00
R0543:Ubr1 UTSW 2 120881093 missense probably damaging 1.00
R0559:Ubr1 UTSW 2 120947883 nonsense probably null
R0723:Ubr1 UTSW 2 120881101 nonsense probably null
R1178:Ubr1 UTSW 2 120926029 nonsense probably null
R1401:Ubr1 UTSW 2 120955644 missense probably benign 0.01
R1485:Ubr1 UTSW 2 120961098 missense probably benign 0.03
R1572:Ubr1 UTSW 2 120935319 splice site probably benign
R1920:Ubr1 UTSW 2 120930968 missense probably benign 0.11
R1921:Ubr1 UTSW 2 120930968 missense probably benign 0.11
R1997:Ubr1 UTSW 2 120946273 critical splice donor site probably null
R2129:Ubr1 UTSW 2 120942553 missense probably benign 0.35
R2147:Ubr1 UTSW 2 120864330 missense probably damaging 1.00
R2191:Ubr1 UTSW 2 120926047 missense probably damaging 0.96
R2288:Ubr1 UTSW 2 120909482 missense probably damaging 1.00
R3409:Ubr1 UTSW 2 120963448 missense probably benign 0.02
R3930:Ubr1 UTSW 2 120916470 missense probably benign 0.20
R3979:Ubr1 UTSW 2 120862687 missense probably benign 0.11
R4172:Ubr1 UTSW 2 120946622 splice site probably null
R4173:Ubr1 UTSW 2 120946622 splice site probably null
R4174:Ubr1 UTSW 2 120946622 splice site probably null
R4241:Ubr1 UTSW 2 120934386 missense possibly damaging 0.69
R4366:Ubr1 UTSW 2 120970603 utr 5 prime probably benign
R4371:Ubr1 UTSW 2 120895066 splice site probably null
R4449:Ubr1 UTSW 2 120946381 missense possibly damaging 0.84
R4533:Ubr1 UTSW 2 120942482 missense possibly damaging 0.86
R4656:Ubr1 UTSW 2 120926013 missense probably benign 0.35
R4765:Ubr1 UTSW 2 120963442 nonsense probably null
R4928:Ubr1 UTSW 2 120914938 missense probably damaging 1.00
R4987:Ubr1 UTSW 2 120963566 missense probably benign 0.00
R5033:Ubr1 UTSW 2 120911997 critical splice donor site probably null
R5108:Ubr1 UTSW 2 120963422 missense probably benign 0.20
R5118:Ubr1 UTSW 2 120882264 missense probably benign 0.20
R5211:Ubr1 UTSW 2 120893170 missense possibly damaging 0.92
R5215:Ubr1 UTSW 2 120904044 missense probably benign 0.00
R5449:Ubr1 UTSW 2 120963500 missense probably benign
R5452:Ubr1 UTSW 2 120868302 missense possibly damaging 0.95
R5582:Ubr1 UTSW 2 120915407 missense probably benign
R5610:Ubr1 UTSW 2 120892112 missense probably benign 0.04
R5637:Ubr1 UTSW 2 120963517 missense possibly damaging 0.68
R5808:Ubr1 UTSW 2 120961092 missense possibly damaging 0.63
R5845:Ubr1 UTSW 2 120904005 missense probably benign
R5979:Ubr1 UTSW 2 120946382 missense probably benign 0.07
R6044:Ubr1 UTSW 2 120862721 missense probably benign 0.38
R6146:Ubr1 UTSW 2 120893209 missense probably damaging 0.98
R6252:Ubr1 UTSW 2 120906895 missense probably benign 0.21
R6389:Ubr1 UTSW 2 120881039 missense probably benign 0.03
R6600:Ubr1 UTSW 2 120915399 missense probably benign 0.00
R6670:Ubr1 UTSW 2 120924130 critical splice donor site probably null
R6731:Ubr1 UTSW 2 120955640 missense probably null 0.99
R6836:Ubr1 UTSW 2 120896675 intron probably null
R6994:Ubr1 UTSW 2 120963593 missense probably benign
R7121:Ubr1 UTSW 2 120875498 missense probably benign 0.00
R7204:Ubr1 UTSW 2 120904077 missense possibly damaging 0.49
R7209:Ubr1 UTSW 2 120862765 missense probably benign 0.04
Posted On2015-04-16