Incidental Mutation 'R5033:Ubr1'
ID 389333
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 042624-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.826) question?
Stock # R5033 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120690750-120801196 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 120742478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028728]
AlphaFold O70481
Predicted Effect probably null
Transcript: ENSMUST00000028728
SMART Domains Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272

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: ENSMUST00000129790
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9930111J21Rik1 G A 11: 48,838,533 (GRCm39) R685W probably damaging Het
Arhgap10 A T 8: 78,109,386 (GRCm39) L399H probably damaging Het
Arih2 AGCCG AG 9: 108,488,859 (GRCm39) probably benign Het
Atp13a2 A G 4: 140,728,132 (GRCm39) H575R possibly damaging Het
Bbof1 G A 12: 84,458,044 (GRCm39) probably null Het
Bltp3a A G 17: 28,105,838 (GRCm39) E788G probably damaging Het
Catsperg2 A C 7: 29,409,559 (GRCm39) Y545D possibly damaging Het
Cdc42bpa T A 1: 179,892,580 (GRCm39) I248N probably damaging Het
Cdk11b A T 4: 155,733,282 (GRCm39) probably benign Het
Cfap46 C A 7: 139,183,776 (GRCm39) L90F probably benign Het
Cndp2 A G 18: 84,688,954 (GRCm39) L276P possibly damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Daam1 C A 12: 71,993,294 (GRCm39) H354Q unknown Het
Dnah5 T A 15: 28,421,824 (GRCm39) F3892Y probably damaging Het
Dnajb3 A G 1: 88,132,745 (GRCm39) V219A possibly damaging Het
Drd5 A G 5: 38,477,544 (GRCm39) H179R probably damaging Het
Dym A G 18: 75,252,232 (GRCm39) N333D possibly damaging Het
Eif2b3 A G 4: 116,909,933 (GRCm39) D156G probably damaging Het
Emc1 A G 4: 139,099,007 (GRCm39) D830G probably damaging Het
F13a1 A C 13: 37,172,830 (GRCm39) I183M probably damaging Het
Fam136b-ps T A 15: 31,277,043 (GRCm39) probably benign Het
Fdft1 C A 14: 63,400,853 (GRCm39) K93N probably damaging Het
Garre1 C T 7: 33,945,237 (GRCm39) G336S probably benign Het
Gcc2 A G 10: 58,114,628 (GRCm39) D959G probably damaging Het
Gp2 A G 7: 119,053,514 (GRCm39) V149A probably damaging Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Hdac9 A T 12: 34,423,906 (GRCm39) C587S probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Iars2 A G 1: 185,050,125 (GRCm39) V453A possibly damaging Het
Il1r1 T G 1: 40,332,684 (GRCm39) C121W probably damaging Het
Inhca A G 9: 103,156,613 (GRCm39) V149A probably benign Het
Jazf1 A G 6: 52,754,525 (GRCm39) Y184H probably damaging Het
Kel A T 6: 41,675,989 (GRCm39) Y234N probably damaging Het
Khk G A 5: 31,087,004 (GRCm39) G186D probably damaging Het
Klf4 A T 4: 55,530,301 (GRCm39) M270K probably benign Het
Kmt2c G A 5: 25,519,706 (GRCm39) L2135F probably benign Het
Krtap15-1 A G 16: 88,626,044 (GRCm39) Y37C probably damaging Het
Lars1 A G 18: 42,347,841 (GRCm39) F994S possibly damaging Het
Ldc1 C T 4: 130,115,408 (GRCm39) probably null Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lrrc2 A T 9: 110,809,987 (GRCm39) D341V probably damaging Het
Map4k4 A G 1: 40,046,662 (GRCm39) K646R probably damaging Het
Mrps9 T A 1: 42,934,491 (GRCm39) probably null Het
Or10ag60 T A 2: 87,438,055 (GRCm39) C108S probably damaging Het
Or11h6 T A 14: 50,880,619 (GRCm39) Y288N probably damaging Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pcnt A T 10: 76,235,779 (GRCm39) C1401S possibly damaging Het
Pdgfrb A T 18: 61,210,740 (GRCm39) K749M probably damaging Het
Pigo A T 4: 43,019,412 (GRCm39) W969R probably null Het
Pigr A T 1: 130,772,436 (GRCm39) Y218F probably damaging Het
Pih1d1 A G 7: 44,804,278 (GRCm39) probably benign Het
Pik3cg A T 12: 32,249,195 (GRCm39) probably null Het
Pik3r6 A T 11: 68,424,294 (GRCm39) K300* probably null Het
Pip5k1c A G 10: 81,141,084 (GRCm39) D64G probably damaging Het
Piwil2 A T 14: 70,659,042 (GRCm39) I161K possibly damaging Het
Pou3f1 A G 4: 124,552,449 (GRCm39) E317G probably damaging Het
Prdm8 C T 5: 98,333,071 (GRCm39) Q213* probably null Het
Prpf6 T A 2: 181,291,899 (GRCm39) C739S possibly damaging Het
Psmc3 T A 2: 90,884,953 (GRCm39) S40T probably benign Het
Psmd3 A T 11: 98,573,650 (GRCm39) D32V probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rapgef6 A T 11: 54,582,207 (GRCm39) H1373L possibly damaging Het
Rnf207 A C 4: 152,397,666 (GRCm39) S328A probably benign Het
Ros1 C T 10: 52,004,512 (GRCm39) probably null Het
Ryr2 T A 13: 11,602,140 (GRCm39) I4581F possibly damaging Het
Sacm1l C T 9: 123,415,464 (GRCm39) R480W probably damaging Het
Sec16a A G 2: 26,309,661 (GRCm39) V664A probably benign Het
Selenoo T A 15: 88,976,969 (GRCm39) M207K probably damaging Het
Sh3tc2 G A 18: 62,147,962 (GRCm39) probably null Het
Slc28a2b T A 2: 122,353,395 (GRCm39) probably null Het
Slco2b1 G T 7: 99,309,256 (GRCm39) Q692K probably benign Het
Slfn4 A T 11: 83,077,623 (GRCm39) D137V probably damaging Het
Srrm2 G A 17: 24,039,592 (GRCm39) A2175T probably damaging Het
Stard9 T A 2: 120,523,880 (GRCm39) C692S probably benign Het
Sulf2 T A 2: 165,923,542 (GRCm39) D559V probably benign Het
Tbpl2 T C 2: 23,977,170 (GRCm39) I283V probably benign Het
Tmem19 A G 10: 115,195,666 (GRCm39) F46S probably benign Het
Trp63 T A 16: 25,582,056 (GRCm39) Y35N probably damaging Het
Ttn T A 2: 76,716,786 (GRCm39) probably benign Het
Ube2z A T 11: 95,941,148 (GRCm39) H331Q probably benign Het
Vmn1r235 A T 17: 21,482,550 (GRCm39) I292F possibly damaging Het
Vmn2r1 T A 3: 64,012,501 (GRCm39) D787E probably damaging Het
Vmn2r3 A G 3: 64,167,220 (GRCm39) V637A probably benign Het
Xpnpep1 C A 19: 52,994,606 (GRCm39) V341L probably benign Het
Yme1l1 A G 2: 23,084,759 (GRCm39) D619G probably damaging Het
Zfp597 G A 16: 3,684,502 (GRCm39) P85S probably damaging Het
Zscan20 A G 4: 128,479,921 (GRCm39) S857P probably benign Het
Other mutations in Ubr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Ubr1 APN 2 120,705,888 (GRCm39) missense possibly damaging 0.65
IGL00570:Ubr1 APN 2 120,771,574 (GRCm39) missense possibly damaging 0.93
IGL00990:Ubr1 APN 2 120,761,353 (GRCm39) missense probably damaging 1.00
IGL01124:Ubr1 APN 2 120,745,386 (GRCm39) missense probably benign
IGL01346:Ubr1 APN 2 120,703,603 (GRCm39) critical splice donor site probably null
IGL01368:Ubr1 APN 2 120,771,612 (GRCm39) splice site probably benign
IGL01539:Ubr1 APN 2 120,756,494 (GRCm39) missense possibly damaging 0.79
IGL01862:Ubr1 APN 2 120,764,823 (GRCm39) missense possibly damaging 0.81
IGL01965:Ubr1 APN 2 120,705,879 (GRCm39) missense probably damaging 0.99
IGL01984:Ubr1 APN 2 120,751,867 (GRCm39) missense probably damaging 0.99
IGL02184:Ubr1 APN 2 120,730,989 (GRCm39) missense probably benign 0.00
IGL02208:Ubr1 APN 2 120,776,830 (GRCm39) missense probably benign 0.00
IGL02415:Ubr1 APN 2 120,801,084 (GRCm39) utr 5 prime probably benign
IGL02517:Ubr1 APN 2 120,694,854 (GRCm39) missense possibly damaging 0.69
IGL02614:Ubr1 APN 2 120,701,460 (GRCm39) splice site probably benign
IGL02627:Ubr1 APN 2 120,771,472 (GRCm39) missense probably damaging 1.00
IGL02718:Ubr1 APN 2 120,745,364 (GRCm39) missense probably damaging 1.00
IGL02741:Ubr1 APN 2 120,771,572 (GRCm39) missense probably benign 0.01
IGL02939:Ubr1 APN 2 120,711,664 (GRCm39) critical splice acceptor site probably null
IGL03081:Ubr1 APN 2 120,791,637 (GRCm39) missense possibly damaging 0.83
IGL03310:Ubr1 APN 2 120,694,898 (GRCm39) missense probably damaging 1.00
IGL03370:Ubr1 APN 2 120,725,641 (GRCm39) missense probably benign
I1329:Ubr1 UTSW 2 120,764,775 (GRCm39) splice site probably benign
R0022:Ubr1 UTSW 2 120,791,654 (GRCm39) splice site probably benign
R0345:Ubr1 UTSW 2 120,734,584 (GRCm39) splice site probably null
R0373:Ubr1 UTSW 2 120,777,138 (GRCm39) missense probably benign 0.01
R0393:Ubr1 UTSW 2 120,737,427 (GRCm39) missense probably damaging 1.00
R0543:Ubr1 UTSW 2 120,711,574 (GRCm39) missense probably damaging 1.00
R0559:Ubr1 UTSW 2 120,778,364 (GRCm39) nonsense probably null
R0723:Ubr1 UTSW 2 120,711,582 (GRCm39) nonsense probably null
R1178:Ubr1 UTSW 2 120,756,510 (GRCm39) nonsense probably null
R1401:Ubr1 UTSW 2 120,786,125 (GRCm39) missense probably benign 0.01
R1485:Ubr1 UTSW 2 120,791,579 (GRCm39) missense probably benign 0.03
R1572:Ubr1 UTSW 2 120,765,800 (GRCm39) splice site probably benign
R1920:Ubr1 UTSW 2 120,761,449 (GRCm39) missense probably benign 0.11
R1921:Ubr1 UTSW 2 120,761,449 (GRCm39) missense probably benign 0.11
R1997:Ubr1 UTSW 2 120,776,754 (GRCm39) critical splice donor site probably null
R2129:Ubr1 UTSW 2 120,773,034 (GRCm39) missense probably benign 0.35
R2147:Ubr1 UTSW 2 120,694,811 (GRCm39) missense probably damaging 1.00
R2191:Ubr1 UTSW 2 120,756,528 (GRCm39) missense probably damaging 0.96
R2288:Ubr1 UTSW 2 120,739,963 (GRCm39) missense probably damaging 1.00
R3409:Ubr1 UTSW 2 120,793,929 (GRCm39) missense probably benign 0.02
R3930:Ubr1 UTSW 2 120,746,951 (GRCm39) missense probably benign 0.20
R3979:Ubr1 UTSW 2 120,693,168 (GRCm39) missense probably benign 0.11
R4172:Ubr1 UTSW 2 120,777,103 (GRCm39) splice site probably null
R4173:Ubr1 UTSW 2 120,777,103 (GRCm39) splice site probably null
R4174:Ubr1 UTSW 2 120,777,103 (GRCm39) splice site probably null
R4241:Ubr1 UTSW 2 120,764,867 (GRCm39) missense possibly damaging 0.69
R4366:Ubr1 UTSW 2 120,801,084 (GRCm39) utr 5 prime probably benign
R4371:Ubr1 UTSW 2 120,725,547 (GRCm39) splice site probably null
R4449:Ubr1 UTSW 2 120,776,862 (GRCm39) missense possibly damaging 0.84
R4533:Ubr1 UTSW 2 120,772,963 (GRCm39) missense possibly damaging 0.86
R4656:Ubr1 UTSW 2 120,756,494 (GRCm39) missense probably benign 0.35
R4765:Ubr1 UTSW 2 120,793,923 (GRCm39) nonsense probably null
R4928:Ubr1 UTSW 2 120,745,419 (GRCm39) missense probably damaging 1.00
R4987:Ubr1 UTSW 2 120,794,047 (GRCm39) missense probably benign 0.00
R5108:Ubr1 UTSW 2 120,793,903 (GRCm39) missense probably benign 0.20
R5118:Ubr1 UTSW 2 120,712,745 (GRCm39) missense probably benign 0.20
R5211:Ubr1 UTSW 2 120,723,651 (GRCm39) missense possibly damaging 0.92
R5215:Ubr1 UTSW 2 120,734,525 (GRCm39) missense probably benign 0.00
R5449:Ubr1 UTSW 2 120,793,981 (GRCm39) missense probably benign
R5452:Ubr1 UTSW 2 120,698,783 (GRCm39) missense possibly damaging 0.95
R5582:Ubr1 UTSW 2 120,745,888 (GRCm39) missense probably benign
R5610:Ubr1 UTSW 2 120,722,593 (GRCm39) missense probably benign 0.04
R5637:Ubr1 UTSW 2 120,793,998 (GRCm39) missense possibly damaging 0.68
R5808:Ubr1 UTSW 2 120,791,573 (GRCm39) missense possibly damaging 0.63
R5845:Ubr1 UTSW 2 120,734,486 (GRCm39) missense probably benign
R5979:Ubr1 UTSW 2 120,776,863 (GRCm39) missense probably benign 0.07
R6044:Ubr1 UTSW 2 120,693,202 (GRCm39) missense probably benign 0.38
R6146:Ubr1 UTSW 2 120,723,690 (GRCm39) missense probably damaging 0.98
R6252:Ubr1 UTSW 2 120,737,376 (GRCm39) missense probably benign 0.21
R6389:Ubr1 UTSW 2 120,711,520 (GRCm39) missense probably benign 0.03
R6600:Ubr1 UTSW 2 120,745,880 (GRCm39) missense probably benign 0.00
R6670:Ubr1 UTSW 2 120,754,611 (GRCm39) critical splice donor site probably null
R6731:Ubr1 UTSW 2 120,786,121 (GRCm39) missense probably null 0.99
R6836:Ubr1 UTSW 2 120,727,156 (GRCm39) splice site probably null
R6994:Ubr1 UTSW 2 120,794,074 (GRCm39) missense probably benign
R7121:Ubr1 UTSW 2 120,705,979 (GRCm39) missense probably benign 0.00
R7204:Ubr1 UTSW 2 120,734,558 (GRCm39) missense possibly damaging 0.49
R7209:Ubr1 UTSW 2 120,693,246 (GRCm39) missense probably benign 0.04
R7434:Ubr1 UTSW 2 120,693,161 (GRCm39) missense probably benign
R7457:Ubr1 UTSW 2 120,748,309 (GRCm39) missense probably benign 0.35
R7464:Ubr1 UTSW 2 120,720,255 (GRCm39) critical splice donor site probably null
R7519:Ubr1 UTSW 2 120,705,925 (GRCm39) missense possibly damaging 0.63
R7574:Ubr1 UTSW 2 120,703,672 (GRCm39) missense possibly damaging 0.93
R8030:Ubr1 UTSW 2 120,764,855 (GRCm39) missense probably damaging 0.99
R8085:Ubr1 UTSW 2 120,764,898 (GRCm39) nonsense probably null
R8221:Ubr1 UTSW 2 120,791,585 (GRCm39) missense probably damaging 0.97
R8241:Ubr1 UTSW 2 120,793,937 (GRCm39) missense possibly damaging 0.80
R8291:Ubr1 UTSW 2 120,741,596 (GRCm39) missense probably benign
R8293:Ubr1 UTSW 2 120,693,202 (GRCm39) missense probably benign 0.38
R8420:Ubr1 UTSW 2 120,701,476 (GRCm39) missense probably benign
R8489:Ubr1 UTSW 2 120,711,548 (GRCm39) missense probably benign 0.42
R8708:Ubr1 UTSW 2 120,696,964 (GRCm39) missense probably benign 0.27
R8856:Ubr1 UTSW 2 120,734,523 (GRCm39) missense probably damaging 1.00
R8995:Ubr1 UTSW 2 120,697,034 (GRCm39) missense probably damaging 1.00
R9153:Ubr1 UTSW 2 120,756,469 (GRCm39) missense probably benign 0.00
R9155:Ubr1 UTSW 2 120,754,615 (GRCm39) missense possibly damaging 0.84
R9156:Ubr1 UTSW 2 120,703,603 (GRCm39) critical splice donor site probably null
R9194:Ubr1 UTSW 2 120,778,325 (GRCm39) missense probably damaging 1.00
R9320:Ubr1 UTSW 2 120,727,000 (GRCm39) missense probably benign 0.04
R9401:Ubr1 UTSW 2 120,765,765 (GRCm39) missense probably benign 0.06
R9430:Ubr1 UTSW 2 120,734,506 (GRCm39) missense possibly damaging 0.59
R9515:Ubr1 UTSW 2 120,703,627 (GRCm39) missense probably damaging 1.00
R9623:Ubr1 UTSW 2 120,764,820 (GRCm39) missense probably benign 0.06
R9703:Ubr1 UTSW 2 120,732,092 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAGGCACATAAATCATTTAAGGGC -3'
(R):5'- CCTCCTTAATTTGAAATGGGTACTC -3'

Sequencing Primer
(F):5'- TGGACTAAGCCTTTGAACCTCTAAGC -3'
(R):5'- ATAAGCTTTGTCCATGTTGGGTTATC -3'
Posted On 2016-06-06