Incidental Mutation 'R4765:Ubr1'
ID 366039
Institutional Source Beutler Lab
Gene Symbol Ubr1
Ensembl Gene ENSMUSG00000027272
Gene Name ubiquitin protein ligase E3 component n-recognin 1
Synonyms E3 alpha
MMRRC Submission 042406-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # R4765 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120860269-120970715 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 120963442 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 87 (L87*)
Ref Sequence ENSEMBL: ENSMUSP00000028728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028728]
AlphaFold O70481
Predicted Effect probably null
Transcript: ENSMUST00000028728
AA Change: L87*
SMART Domains Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: L87*

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: ENSMUST00000133408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138824
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,881,161 (GRCm38) R490C probably benign Het
Abcb11 A T 2: 69,245,867 (GRCm38) F1166I probably damaging Het
Acta2 T C 19: 34,246,152 (GRCm38) D181G probably damaging Het
Adgrv1 A G 13: 81,106,919 (GRCm38) I6195T probably damaging Het
Afg3l2 G T 18: 67,421,259 (GRCm38) L458M probably damaging Het
Ankfy1 T G 11: 72,712,291 (GRCm38) S49A probably benign Het
Azi2 A T 9: 118,061,471 (GRCm38) probably benign Het
Bend3 A T 10: 43,510,750 (GRCm38) S380C probably damaging Het
Bicc1 T C 10: 70,940,593 (GRCm38) T759A probably damaging Het
Cdh10 G T 15: 19,013,278 (GRCm38) V655L probably damaging Het
Cdkn2aip C A 8: 47,713,547 (GRCm38) W75L probably damaging Het
Cenpj G A 14: 56,549,545 (GRCm38) R192* probably null Het
Cflar T C 1: 58,732,321 (GRCm38) S203P probably damaging Het
Chd6 A T 2: 160,966,244 (GRCm38) C1683* probably null Het
Cpsf2 A G 12: 101,997,440 (GRCm38) Y476C probably damaging Het
Cyp4a12a A G 4: 115,326,191 (GRCm38) D169G possibly damaging Het
D430041D05Rik T A 2: 104,214,096 (GRCm38) R1536S probably damaging Het
Depdc5 A C 5: 32,937,635 (GRCm38) D752A probably damaging Het
Dnah9 C T 11: 65,927,726 (GRCm38) G78D probably damaging Het
Drc1 G T 5: 30,348,731 (GRCm38) Q249H probably benign Het
Drg1 T C 11: 3,250,280 (GRCm38) I364V probably benign Het
Dtymk T C 1: 93,792,909 (GRCm38) H130R probably damaging Het
Elac2 T G 11: 64,992,222 (GRCm38) F140V probably damaging Het
Enpp2 A G 15: 54,875,672 (GRCm38) V353A possibly damaging Het
Fat2 T C 11: 55,281,187 (GRCm38) D2900G probably damaging Het
Fermt2 G T 14: 45,462,236 (GRCm38) T536K probably benign Het
Foxj2 G T 6: 122,833,271 (GRCm38) Q196H probably benign Het
Gadl1 A G 9: 115,966,313 (GRCm38) K328R probably null Het
Gata6 A G 18: 11,054,394 (GRCm38) T108A probably benign Het
Gm16503 G T 4: 147,541,097 (GRCm38) G16V unknown Het
Gpr37 T G 6: 25,669,108 (GRCm38) E579A probably damaging Het
Gps2 T C 11: 69,916,361 (GRCm38) probably benign Het
Hcn4 A T 9: 58,857,977 (GRCm38) I581F unknown Het
Hfm1 T A 5: 106,842,539 (GRCm38) Y1335F probably benign Het
Igsf10 A T 3: 59,329,705 (GRCm38) S1018R probably benign Het
Katnal2 C T 18: 76,977,543 (GRCm38) probably null Het
Kctd8 T C 5: 69,340,848 (GRCm38) K152E possibly damaging Het
Lrp8 T C 4: 107,854,395 (GRCm38) C459R probably damaging Het
Ly6l A T 15: 75,449,694 (GRCm38) I48L probably benign Het
Megf10 A T 18: 57,287,794 (GRCm38) I835F possibly damaging Het
Mei1 A T 15: 82,112,485 (GRCm38) I946F possibly damaging Het
Mrtfb C A 16: 13,412,594 (GRCm38) P1048T probably damaging Het
Myo7b G C 18: 31,961,900 (GRCm38) L1881V probably benign Het
Nfkbiz T C 16: 55,819,024 (GRCm38) probably null Het
Or4b13 T A 2: 90,252,463 (GRCm38) Y175F probably damaging Het
Or5b24 T C 19: 12,935,076 (GRCm38) C113R possibly damaging Het
Pcdhgc5 T C 18: 37,822,069 (GRCm38) S799P probably benign Het
Plk4 A G 3: 40,802,022 (GRCm38) E97G probably damaging Het
Pole2 A T 12: 69,222,052 (GRCm38) H114Q possibly damaging Het
Rad9a C A 19: 4,200,489 (GRCm38) V109L probably benign Het
Scn8a A G 15: 101,040,471 (GRCm38) H1917R probably benign Het
Scyl2 C T 10: 89,659,298 (GRCm38) V304I probably damaging Het
Serpina3f G C 12: 104,219,431 (GRCm38) E298D probably benign Het
Shoc2 A G 19: 53,988,303 (GRCm38) E208G probably benign Het
Sin3a G A 9: 57,096,803 (GRCm38) V280I probably benign Het
Slc26a2 A T 18: 61,199,486 (GRCm38) I291N probably damaging Het
Slc4a7 T G 14: 14,762,414 (GRCm38) D600E probably damaging Het
Slc5a6 A T 5: 31,038,083 (GRCm38) F430L possibly damaging Het
Snx19 A C 9: 30,440,157 (GRCm38) Q840H probably damaging Het
Spast C A 17: 74,369,216 (GRCm38) D340E probably damaging Het
Sprr4 G A 3: 92,500,409 (GRCm38) P29S unknown Het
Stk11ip T G 1: 75,527,155 (GRCm38) L239R probably damaging Het
Thoc6 A G 17: 23,670,888 (GRCm38) L20P probably damaging Het
Tnfrsf8 A T 4: 145,296,877 (GRCm38) S129T probably benign Het
Tnrc6c A G 11: 117,742,927 (GRCm38) I1284V probably benign Het
Ttn T C 2: 76,772,507 (GRCm38) Y16711C probably damaging Het
Ttn A G 2: 76,710,987 (GRCm38) L33885P probably damaging Het
Ubn2 T A 6: 38,479,140 (GRCm38) C501S probably damaging Het
Uhmk1 T C 1: 170,199,901 (GRCm38) Y320C probably damaging Het
Vldlr T C 19: 27,240,547 (GRCm38) V465A probably damaging Het
Vmn1r1 C T 1: 182,157,906 (GRCm38) A65T probably benign Het
Vmn2r25 C T 6: 123,823,223 (GRCm38) C720Y probably damaging Het
Xrra1 T C 7: 99,906,568 (GRCm38) Y381H probably benign Het
Zfhx4 T C 3: 5,400,152 (GRCm38) L1790P probably benign Het
Zscan4d T A 7: 11,162,667 (GRCm38) M259L probably benign Het
Other mutations in Ubr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Ubr1 APN 2 120,875,407 (GRCm38) missense possibly damaging 0.65
IGL00570:Ubr1 APN 2 120,941,093 (GRCm38) missense possibly damaging 0.93
IGL00990:Ubr1 APN 2 120,930,872 (GRCm38) missense probably damaging 1.00
IGL01124:Ubr1 APN 2 120,914,905 (GRCm38) missense probably benign
IGL01346:Ubr1 APN 2 120,873,122 (GRCm38) critical splice donor site probably null
IGL01368:Ubr1 APN 2 120,941,131 (GRCm38) splice site probably benign
IGL01539:Ubr1 APN 2 120,926,013 (GRCm38) missense possibly damaging 0.79
IGL01862:Ubr1 APN 2 120,934,342 (GRCm38) missense possibly damaging 0.81
IGL01965:Ubr1 APN 2 120,875,398 (GRCm38) missense probably damaging 0.99
IGL01984:Ubr1 APN 2 120,921,386 (GRCm38) missense probably damaging 0.99
IGL02184:Ubr1 APN 2 120,900,508 (GRCm38) missense probably benign 0.00
IGL02208:Ubr1 APN 2 120,946,349 (GRCm38) missense probably benign 0.00
IGL02415:Ubr1 APN 2 120,970,603 (GRCm38) utr 5 prime probably benign
IGL02517:Ubr1 APN 2 120,864,373 (GRCm38) missense possibly damaging 0.69
IGL02614:Ubr1 APN 2 120,870,979 (GRCm38) splice site probably benign
IGL02627:Ubr1 APN 2 120,940,991 (GRCm38) missense probably damaging 1.00
IGL02718:Ubr1 APN 2 120,914,883 (GRCm38) missense probably damaging 1.00
IGL02741:Ubr1 APN 2 120,941,091 (GRCm38) missense probably benign 0.01
IGL02939:Ubr1 APN 2 120,881,183 (GRCm38) critical splice acceptor site probably null
IGL03081:Ubr1 APN 2 120,961,156 (GRCm38) missense possibly damaging 0.83
IGL03310:Ubr1 APN 2 120,864,417 (GRCm38) missense probably damaging 1.00
IGL03370:Ubr1 APN 2 120,895,160 (GRCm38) missense probably benign
I1329:Ubr1 UTSW 2 120,934,294 (GRCm38) splice site probably benign
R0022:Ubr1 UTSW 2 120,961,173 (GRCm38) splice site probably benign
R0345:Ubr1 UTSW 2 120,904,103 (GRCm38) splice site probably null
R0373:Ubr1 UTSW 2 120,946,657 (GRCm38) missense probably benign 0.01
R0393:Ubr1 UTSW 2 120,906,946 (GRCm38) missense probably damaging 1.00
R0543:Ubr1 UTSW 2 120,881,093 (GRCm38) missense probably damaging 1.00
R0559:Ubr1 UTSW 2 120,947,883 (GRCm38) nonsense probably null
R0723:Ubr1 UTSW 2 120,881,101 (GRCm38) nonsense probably null
R1178:Ubr1 UTSW 2 120,926,029 (GRCm38) nonsense probably null
R1401:Ubr1 UTSW 2 120,955,644 (GRCm38) missense probably benign 0.01
R1485:Ubr1 UTSW 2 120,961,098 (GRCm38) missense probably benign 0.03
R1572:Ubr1 UTSW 2 120,935,319 (GRCm38) splice site probably benign
R1920:Ubr1 UTSW 2 120,930,968 (GRCm38) missense probably benign 0.11
R1921:Ubr1 UTSW 2 120,930,968 (GRCm38) missense probably benign 0.11
R1997:Ubr1 UTSW 2 120,946,273 (GRCm38) critical splice donor site probably null
R2129:Ubr1 UTSW 2 120,942,553 (GRCm38) missense probably benign 0.35
R2147:Ubr1 UTSW 2 120,864,330 (GRCm38) missense probably damaging 1.00
R2191:Ubr1 UTSW 2 120,926,047 (GRCm38) missense probably damaging 0.96
R2288:Ubr1 UTSW 2 120,909,482 (GRCm38) missense probably damaging 1.00
R3409:Ubr1 UTSW 2 120,963,448 (GRCm38) missense probably benign 0.02
R3930:Ubr1 UTSW 2 120,916,470 (GRCm38) missense probably benign 0.20
R3979:Ubr1 UTSW 2 120,862,687 (GRCm38) missense probably benign 0.11
R4172:Ubr1 UTSW 2 120,946,622 (GRCm38) splice site probably null
R4173:Ubr1 UTSW 2 120,946,622 (GRCm38) splice site probably null
R4174:Ubr1 UTSW 2 120,946,622 (GRCm38) splice site probably null
R4241:Ubr1 UTSW 2 120,934,386 (GRCm38) missense possibly damaging 0.69
R4366:Ubr1 UTSW 2 120,970,603 (GRCm38) utr 5 prime probably benign
R4371:Ubr1 UTSW 2 120,895,066 (GRCm38) splice site probably null
R4449:Ubr1 UTSW 2 120,946,381 (GRCm38) missense possibly damaging 0.84
R4533:Ubr1 UTSW 2 120,942,482 (GRCm38) missense possibly damaging 0.86
R4656:Ubr1 UTSW 2 120,926,013 (GRCm38) missense probably benign 0.35
R4928:Ubr1 UTSW 2 120,914,938 (GRCm38) missense probably damaging 1.00
R4987:Ubr1 UTSW 2 120,963,566 (GRCm38) missense probably benign 0.00
R5033:Ubr1 UTSW 2 120,911,997 (GRCm38) critical splice donor site probably null
R5108:Ubr1 UTSW 2 120,963,422 (GRCm38) missense probably benign 0.20
R5118:Ubr1 UTSW 2 120,882,264 (GRCm38) missense probably benign 0.20
R5211:Ubr1 UTSW 2 120,893,170 (GRCm38) missense possibly damaging 0.92
R5215:Ubr1 UTSW 2 120,904,044 (GRCm38) missense probably benign 0.00
R5449:Ubr1 UTSW 2 120,963,500 (GRCm38) missense probably benign
R5452:Ubr1 UTSW 2 120,868,302 (GRCm38) missense possibly damaging 0.95
R5582:Ubr1 UTSW 2 120,915,407 (GRCm38) missense probably benign
R5610:Ubr1 UTSW 2 120,892,112 (GRCm38) missense probably benign 0.04
R5637:Ubr1 UTSW 2 120,963,517 (GRCm38) missense possibly damaging 0.68
R5808:Ubr1 UTSW 2 120,961,092 (GRCm38) missense possibly damaging 0.63
R5845:Ubr1 UTSW 2 120,904,005 (GRCm38) missense probably benign
R5979:Ubr1 UTSW 2 120,946,382 (GRCm38) missense probably benign 0.07
R6044:Ubr1 UTSW 2 120,862,721 (GRCm38) missense probably benign 0.38
R6146:Ubr1 UTSW 2 120,893,209 (GRCm38) missense probably damaging 0.98
R6252:Ubr1 UTSW 2 120,906,895 (GRCm38) missense probably benign 0.21
R6389:Ubr1 UTSW 2 120,881,039 (GRCm38) missense probably benign 0.03
R6600:Ubr1 UTSW 2 120,915,399 (GRCm38) missense probably benign 0.00
R6670:Ubr1 UTSW 2 120,924,130 (GRCm38) critical splice donor site probably null
R6731:Ubr1 UTSW 2 120,955,640 (GRCm38) missense probably null 0.99
R6836:Ubr1 UTSW 2 120,896,675 (GRCm38) splice site probably null
R6994:Ubr1 UTSW 2 120,963,593 (GRCm38) missense probably benign
R7121:Ubr1 UTSW 2 120,875,498 (GRCm38) missense probably benign 0.00
R7204:Ubr1 UTSW 2 120,904,077 (GRCm38) missense possibly damaging 0.49
R7209:Ubr1 UTSW 2 120,862,765 (GRCm38) missense probably benign 0.04
R7434:Ubr1 UTSW 2 120,862,680 (GRCm38) missense probably benign
R7457:Ubr1 UTSW 2 120,917,828 (GRCm38) missense probably benign 0.35
R7464:Ubr1 UTSW 2 120,889,774 (GRCm38) critical splice donor site probably null
R7519:Ubr1 UTSW 2 120,875,444 (GRCm38) missense possibly damaging 0.63
R7574:Ubr1 UTSW 2 120,873,191 (GRCm38) missense possibly damaging 0.93
R8030:Ubr1 UTSW 2 120,934,374 (GRCm38) missense probably damaging 0.99
R8085:Ubr1 UTSW 2 120,934,417 (GRCm38) nonsense probably null
R8221:Ubr1 UTSW 2 120,961,104 (GRCm38) missense probably damaging 0.97
R8241:Ubr1 UTSW 2 120,963,456 (GRCm38) missense possibly damaging 0.80
R8291:Ubr1 UTSW 2 120,911,115 (GRCm38) missense probably benign
R8293:Ubr1 UTSW 2 120,862,721 (GRCm38) missense probably benign 0.38
R8420:Ubr1 UTSW 2 120,870,995 (GRCm38) missense probably benign
R8489:Ubr1 UTSW 2 120,881,067 (GRCm38) missense probably benign 0.42
R8708:Ubr1 UTSW 2 120,866,483 (GRCm38) missense probably benign 0.27
R8856:Ubr1 UTSW 2 120,904,042 (GRCm38) missense probably damaging 1.00
R8995:Ubr1 UTSW 2 120,866,553 (GRCm38) missense probably damaging 1.00
R9153:Ubr1 UTSW 2 120,925,988 (GRCm38) missense probably benign 0.00
R9155:Ubr1 UTSW 2 120,924,134 (GRCm38) missense possibly damaging 0.84
R9156:Ubr1 UTSW 2 120,873,122 (GRCm38) critical splice donor site probably null
R9194:Ubr1 UTSW 2 120,947,844 (GRCm38) missense probably damaging 1.00
R9320:Ubr1 UTSW 2 120,896,519 (GRCm38) missense probably benign 0.04
R9401:Ubr1 UTSW 2 120,935,284 (GRCm38) missense probably benign 0.06
R9430:Ubr1 UTSW 2 120,904,025 (GRCm38) missense possibly damaging 0.59
R9515:Ubr1 UTSW 2 120,873,146 (GRCm38) missense probably damaging 1.00
R9623:Ubr1 UTSW 2 120,934,339 (GRCm38) missense probably benign 0.06
R9703:Ubr1 UTSW 2 120,901,611 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACCTGCTTAATAAGGAGCCG -3'
(R):5'- GTGGGATCAGCAAGTTGATTTC -3'

Sequencing Primer
(F):5'- TATACTATAGACAGCGATGAACTAGG -3'
(R):5'- GGGATCAGCAAGTTGATTTCTATAC -3'
Posted On 2015-12-21