Incidental Mutation 'R1721:Ubr5'
ID 191497
Institutional Source Beutler Lab
Gene Symbol Ubr5
Ensembl Gene ENSMUSG00000037487
Gene Name ubiquitin protein ligase E3 component n-recognin 5
Synonyms Edd1, Edd, 4432411E13Rik
MMRRC Submission 039753-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1721 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 37967572-38079098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38042090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 169 (S169T)
Ref Sequence ENSEMBL: ENSMUSP00000105965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110336] [ENSMUST00000226414]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000110336
AA Change: S169T

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: S169T

DomainStartEndE-ValueType
low complexity region 94 111 N/A INTRINSIC
low complexity region 129 156 N/A INTRINSIC
Pfam:E3_UbLigase_EDD 179 230 9.7e-35 PFAM
low complexity region 282 323 N/A INTRINSIC
low complexity region 614 628 N/A INTRINSIC
low complexity region 860 870 N/A INTRINSIC
low complexity region 933 950 N/A INTRINSIC
low complexity region 970 999 N/A INTRINSIC
low complexity region 1140 1151 N/A INTRINSIC
ZnF_UBR1 1177 1244 5.42e-27 SMART
low complexity region 1396 1405 N/A INTRINSIC
low complexity region 1524 1537 N/A INTRINSIC
low complexity region 1567 1613 N/A INTRINSIC
low complexity region 1641 1657 N/A INTRINSIC
low complexity region 1662 1687 N/A INTRINSIC
low complexity region 1726 1742 N/A INTRINSIC
low complexity region 1759 1789 N/A INTRINSIC
low complexity region 1879 1890 N/A INTRINSIC
low complexity region 1972 1983 N/A INTRINSIC
low complexity region 1986 1997 N/A INTRINSIC
Blast:HECTc 2271 2313 2e-6 BLAST
low complexity region 2329 2366 N/A INTRINSIC
PolyA 2389 2452 3.97e-33 SMART
HECTc 2432 2798 1e-151 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226414
AA Change: S169T

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0686 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (87/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, impaired growth of the allantois, failure or impairment of chorioallantoic fusion, impaired angiogenesis in the yolk sac and allantois, decreased cell proliferation, and increased apoptosis. [provided by MGI curators]
Allele List at MGI

All alleles(151) : Targeted(3) Gene trapped(148)

Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,901,995 (GRCm39) V559E probably benign Het
Adamts20 A G 15: 94,236,340 (GRCm39) F844L probably benign Het
Adcy5 C A 16: 35,118,794 (GRCm39) D1048E probably damaging Het
Agrn A T 4: 156,259,630 (GRCm39) C768* probably null Het
Aldh18a1 G T 19: 40,553,282 (GRCm39) Q487K probably damaging Het
Aldh3b1 G A 19: 3,971,271 (GRCm39) probably benign Het
Asb18 T G 1: 89,896,302 (GRCm39) D246A probably benign Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
Bcl2l15 A G 3: 103,745,914 (GRCm39) probably null Het
Brd10 A T 19: 29,720,998 (GRCm39) S743T probably damaging Het
Cage1 T A 13: 38,207,309 (GRCm39) K285* probably null Het
Ccn2 A C 10: 24,472,695 (GRCm39) T202P probably damaging Het
Cldn17 A G 16: 88,303,444 (GRCm39) L95P probably damaging Het
Cldn20 A T 17: 3,583,157 (GRCm39) D110V probably damaging Het
Cnot10 T C 9: 114,444,067 (GRCm39) T443A probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Col23a1 T C 11: 51,418,716 (GRCm39) Y135H unknown Het
Cse1l T C 2: 166,768,331 (GRCm39) S210P probably damaging Het
Cspg4 T G 9: 56,796,027 (GRCm39) V1254G probably damaging Het
Dip2c A G 13: 9,709,404 (GRCm39) T1415A probably damaging Het
Epc2 A G 2: 49,422,117 (GRCm39) Y337C probably damaging Het
Epha2 A G 4: 141,049,963 (GRCm39) S799G probably damaging Het
Fndc10 A G 4: 155,779,355 (GRCm39) Y133C probably damaging Het
Gli3 G T 13: 15,900,882 (GRCm39) S1423I probably benign Het
Gm6034 A T 17: 36,354,045 (GRCm39) probably benign Het
Gmip A G 8: 70,263,882 (GRCm39) S109G probably damaging Het
Grik2 C A 10: 49,399,842 (GRCm39) W296L possibly damaging Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Il6 T A 5: 30,218,490 (GRCm39) Y46N possibly damaging Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Itga9 A G 9: 118,527,374 (GRCm39) probably benign Het
Kcna7 T C 7: 45,056,345 (GRCm39) V187A possibly damaging Het
Kdm5b G T 1: 134,540,919 (GRCm39) probably benign Het
Knl1 T G 2: 118,906,815 (GRCm39) S1635A probably damaging Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lox T G 18: 52,653,983 (GRCm39) probably null Het
Mdc1 A G 17: 36,158,718 (GRCm39) D366G possibly damaging Het
Meiob T C 17: 25,053,021 (GRCm39) C344R probably damaging Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Mon2 A T 10: 122,867,002 (GRCm39) M551K probably damaging Het
Mrps15 A G 4: 125,945,187 (GRCm39) T125A probably benign Het
Mtmr14 A G 6: 113,230,693 (GRCm39) H99R probably damaging Het
Mup4 A G 4: 59,960,598 (GRCm39) M1T probably null Het
Mup5 G A 4: 61,750,607 (GRCm39) R179* probably null Het
Ncoa3 T G 2: 165,911,221 (GRCm39) V1326G possibly damaging Het
Noa1 A T 5: 77,455,428 (GRCm39) N429K probably benign Het
Nrxn1 C T 17: 90,469,832 (GRCm39) A241T probably damaging Het
Or1p1 A T 11: 74,180,126 (GRCm39) Y218F probably damaging Het
Or2t49 C T 11: 58,392,765 (GRCm39) V206M probably damaging Het
Pcdh9 G A 14: 94,125,471 (GRCm39) S233L probably damaging Het
Peg3 C A 7: 6,712,900 (GRCm39) S774I possibly damaging Het
Phyh A G 2: 4,942,620 (GRCm39) K321R probably null Het
Plcg1 T A 2: 160,573,840 (GRCm39) M35K probably damaging Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Ppargc1b T A 18: 61,440,275 (GRCm39) probably null Het
Prcd A C 11: 116,548,371 (GRCm39) S27R probably benign Het
Prx T A 7: 27,216,948 (GRCm39) M622K probably benign Het
Psmd1 T A 1: 85,999,567 (GRCm39) D51E probably damaging Het
Psmd13 C T 7: 140,463,430 (GRCm39) T38I probably damaging Het
Ptprf A C 4: 118,082,096 (GRCm39) D1047E possibly damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Riiad1 G A 3: 94,380,176 (GRCm39) P40S possibly damaging Het
Rnft1 T A 11: 86,377,096 (GRCm39) N53K probably benign Het
Scn4a C T 11: 106,211,646 (GRCm39) R1457H probably benign Het
Sema6c A T 3: 95,078,099 (GRCm39) I492F probably damaging Het
Shbg T C 11: 69,505,798 (GRCm39) H403R probably damaging Het
Slc15a5 A T 6: 138,049,845 (GRCm39) probably benign Het
Slc38a1 G A 15: 96,485,016 (GRCm39) T221M probably damaging Het
Slc6a16 T A 7: 44,910,600 (GRCm39) V375E possibly damaging Het
Slc6a17 T A 3: 107,379,492 (GRCm39) M559L probably damaging Het
Slmap A G 14: 26,181,373 (GRCm39) probably benign Het
Sorcs2 G A 5: 36,184,092 (GRCm39) R965W probably damaging Het
St8sia4 C A 1: 95,581,394 (GRCm39) R116L probably damaging Het
Tcaf1 A C 6: 42,652,272 (GRCm39) S737A possibly damaging Het
Thbs2 T A 17: 14,899,072 (GRCm39) Y676F probably benign Het
Tmod2 A G 9: 75,493,324 (GRCm39) probably benign Het
Trim75 T C 8: 65,435,391 (GRCm39) probably null Het
Usp54 A T 14: 20,633,508 (GRCm39) Y37* probably null Het
Vill T C 9: 118,895,082 (GRCm39) F100S probably damaging Het
Vstm5 A G 9: 15,168,663 (GRCm39) R76G probably benign Het
Zfp608 T C 18: 55,032,321 (GRCm39) T540A probably benign Het
Zfp947 A C 17: 22,365,184 (GRCm39) N163K probably benign Het
Zfyve26 T C 12: 79,308,573 (GRCm39) H228R possibly damaging Het
Other mutations in Ubr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Ubr5 APN 15 37,984,280 (GRCm39) missense probably damaging 1.00
IGL00548:Ubr5 APN 15 38,004,565 (GRCm39) missense probably benign 0.11
IGL00675:Ubr5 APN 15 38,018,528 (GRCm39) missense possibly damaging 0.84
IGL00770:Ubr5 APN 15 38,006,785 (GRCm39) missense probably benign 0.27
IGL00774:Ubr5 APN 15 38,006,785 (GRCm39) missense probably benign 0.27
IGL00919:Ubr5 APN 15 38,041,086 (GRCm39) missense probably damaging 1.00
IGL00962:Ubr5 APN 15 37,986,178 (GRCm39) missense probably damaging 1.00
IGL01328:Ubr5 APN 15 37,981,767 (GRCm39) missense possibly damaging 0.82
IGL01359:Ubr5 APN 15 37,973,250 (GRCm39) missense probably damaging 0.96
IGL01394:Ubr5 APN 15 38,009,875 (GRCm39) missense possibly damaging 0.90
IGL01674:Ubr5 APN 15 37,998,623 (GRCm39) missense probably damaging 1.00
IGL01981:Ubr5 APN 15 37,996,842 (GRCm39) missense probably benign 0.08
IGL01993:Ubr5 APN 15 37,973,256 (GRCm39) missense probably damaging 0.99
IGL02159:Ubr5 APN 15 37,991,623 (GRCm39) splice site probably benign
IGL02252:Ubr5 APN 15 38,025,138 (GRCm39) missense probably damaging 1.00
IGL02442:Ubr5 APN 15 38,038,145 (GRCm39) missense possibly damaging 0.95
IGL02502:Ubr5 APN 15 38,030,933 (GRCm39) missense probably benign 0.01
IGL02503:Ubr5 APN 15 38,018,558 (GRCm39) missense probably damaging 0.99
IGL02503:Ubr5 APN 15 38,018,564 (GRCm39) missense possibly damaging 0.90
IGL02546:Ubr5 APN 15 38,008,991 (GRCm39) missense probably benign 0.00
IGL02556:Ubr5 APN 15 38,002,692 (GRCm39) missense probably benign 0.18
IGL02647:Ubr5 APN 15 37,992,326 (GRCm39) missense probably damaging 0.99
IGL02679:Ubr5 APN 15 38,002,558 (GRCm39) missense probably benign 0.36
IGL02726:Ubr5 APN 15 38,000,806 (GRCm39) splice site probably benign
IGL02884:Ubr5 APN 15 37,998,620 (GRCm39) missense probably damaging 1.00
IGL02972:Ubr5 APN 15 38,042,196 (GRCm39) missense probably damaging 1.00
IGL03000:Ubr5 APN 15 38,025,096 (GRCm39) missense probably damaging 0.99
IGL03028:Ubr5 APN 15 38,047,837 (GRCm39) missense probably benign 0.00
IGL03057:Ubr5 APN 15 38,041,150 (GRCm39) splice site probably benign
IGL03085:Ubr5 APN 15 38,029,812 (GRCm39) missense probably damaging 1.00
IGL03198:Ubr5 APN 15 38,045,964 (GRCm39) missense probably damaging 1.00
IGL03368:Ubr5 APN 15 37,998,560 (GRCm39) missense probably damaging 0.96
Anchovy UTSW 15 37,980,076 (GRCm39) missense probably null
P0016:Ubr5 UTSW 15 38,000,822 (GRCm39) missense probably damaging 1.00
PIT4142001:Ubr5 UTSW 15 38,042,153 (GRCm39) missense
R0133:Ubr5 UTSW 15 37,996,815 (GRCm39) missense probably damaging 0.98
R0173:Ubr5 UTSW 15 38,004,919 (GRCm39) missense probably damaging 1.00
R0234:Ubr5 UTSW 15 37,968,737 (GRCm39) missense probably damaging 1.00
R0234:Ubr5 UTSW 15 37,968,737 (GRCm39) missense probably damaging 1.00
R0314:Ubr5 UTSW 15 37,997,431 (GRCm39) missense probably damaging 0.99
R0379:Ubr5 UTSW 15 38,019,201 (GRCm39) missense probably benign 0.00
R0390:Ubr5 UTSW 15 38,030,916 (GRCm39) missense probably benign 0.19
R0415:Ubr5 UTSW 15 37,973,224 (GRCm39) missense probably damaging 0.98
R0531:Ubr5 UTSW 15 37,991,588 (GRCm39) missense probably benign 0.34
R0650:Ubr5 UTSW 15 38,031,051 (GRCm39) splice site probably benign
R0720:Ubr5 UTSW 15 37,973,235 (GRCm39) missense probably damaging 0.98
R1183:Ubr5 UTSW 15 37,997,419 (GRCm39) missense possibly damaging 0.71
R1302:Ubr5 UTSW 15 38,041,723 (GRCm39) missense possibly damaging 0.91
R1442:Ubr5 UTSW 15 38,015,168 (GRCm39) splice site probably benign
R1507:Ubr5 UTSW 15 37,981,114 (GRCm39) missense probably damaging 1.00
R1575:Ubr5 UTSW 15 38,041,085 (GRCm39) missense probably damaging 1.00
R1577:Ubr5 UTSW 15 38,030,974 (GRCm39) missense possibly damaging 0.76
R1622:Ubr5 UTSW 15 38,009,357 (GRCm39) unclassified probably benign
R1799:Ubr5 UTSW 15 37,989,621 (GRCm39) missense probably damaging 1.00
R1840:Ubr5 UTSW 15 37,981,161 (GRCm39) missense possibly damaging 0.51
R1867:Ubr5 UTSW 15 38,042,090 (GRCm39) missense probably benign 0.18
R1868:Ubr5 UTSW 15 38,042,090 (GRCm39) missense probably benign 0.18
R2065:Ubr5 UTSW 15 38,041,086 (GRCm39) missense probably damaging 1.00
R2107:Ubr5 UTSW 15 37,989,546 (GRCm39) missense probably benign 0.00
R2201:Ubr5 UTSW 15 38,002,543 (GRCm39) missense possibly damaging 0.83
R2261:Ubr5 UTSW 15 37,988,528 (GRCm39) missense probably damaging 0.99
R2441:Ubr5 UTSW 15 37,989,589 (GRCm39) missense probably damaging 0.99
R2512:Ubr5 UTSW 15 38,002,563 (GRCm39) missense probably damaging 1.00
R3008:Ubr5 UTSW 15 38,031,089 (GRCm39) missense probably benign
R3412:Ubr5 UTSW 15 38,004,479 (GRCm39) splice site probably benign
R3898:Ubr5 UTSW 15 37,997,983 (GRCm39) missense probably benign 0.02
R3900:Ubr5 UTSW 15 38,019,486 (GRCm39) missense probably damaging 1.00
R4032:Ubr5 UTSW 15 38,025,081 (GRCm39) missense
R4352:Ubr5 UTSW 15 38,041,817 (GRCm39) missense probably benign 0.31
R4362:Ubr5 UTSW 15 38,078,647 (GRCm39) missense probably damaging 0.99
R4467:Ubr5 UTSW 15 38,004,580 (GRCm39) missense probably damaging 1.00
R4507:Ubr5 UTSW 15 38,013,786 (GRCm39) missense probably damaging 0.96
R4683:Ubr5 UTSW 15 38,038,211 (GRCm39) missense probably damaging 1.00
R4771:Ubr5 UTSW 15 38,018,541 (GRCm39) missense possibly damaging 0.50
R4878:Ubr5 UTSW 15 38,006,808 (GRCm39) missense probably benign 0.01
R4999:Ubr5 UTSW 15 38,009,912 (GRCm39) missense probably benign 0.06
R5057:Ubr5 UTSW 15 38,004,353 (GRCm39) missense probably damaging 0.98
R5177:Ubr5 UTSW 15 38,006,761 (GRCm39) missense probably benign 0.22
R5186:Ubr5 UTSW 15 37,998,160 (GRCm39) missense probably damaging 0.99
R5378:Ubr5 UTSW 15 37,989,822 (GRCm39) missense probably damaging 1.00
R5486:Ubr5 UTSW 15 38,008,983 (GRCm39) missense probably benign 0.00
R5494:Ubr5 UTSW 15 38,019,525 (GRCm39) missense possibly damaging 0.78
R5617:Ubr5 UTSW 15 38,030,901 (GRCm39) missense possibly damaging 0.47
R5636:Ubr5 UTSW 15 37,984,240 (GRCm39) missense probably damaging 1.00
R5655:Ubr5 UTSW 15 38,015,337 (GRCm39) missense probably damaging 0.99
R5715:Ubr5 UTSW 15 38,002,477 (GRCm39) missense probably benign 0.06
R5781:Ubr5 UTSW 15 38,006,785 (GRCm39) missense probably benign 0.27
R6645:Ubr5 UTSW 15 38,029,750 (GRCm39) missense probably damaging 1.00
R6774:Ubr5 UTSW 15 38,015,379 (GRCm39) missense probably damaging 1.00
R6823:Ubr5 UTSW 15 37,989,842 (GRCm39) missense probably benign 0.08
R6877:Ubr5 UTSW 15 38,002,814 (GRCm39) missense probably damaging 0.98
R7105:Ubr5 UTSW 15 38,009,019 (GRCm39) missense
R7166:Ubr5 UTSW 15 37,976,389 (GRCm39) missense
R7514:Ubr5 UTSW 15 37,988,481 (GRCm39) missense
R7523:Ubr5 UTSW 15 38,004,299 (GRCm39) missense
R7631:Ubr5 UTSW 15 38,029,751 (GRCm39) missense
R7709:Ubr5 UTSW 15 37,980,076 (GRCm39) missense probably null
R7710:Ubr5 UTSW 15 37,980,076 (GRCm39) missense probably null
R7712:Ubr5 UTSW 15 37,980,076 (GRCm39) missense probably null
R7803:Ubr5 UTSW 15 37,980,076 (GRCm39) missense probably null
R7816:Ubr5 UTSW 15 37,980,076 (GRCm39) missense probably null
R7817:Ubr5 UTSW 15 37,980,076 (GRCm39) missense probably null
R7821:Ubr5 UTSW 15 37,997,431 (GRCm39) missense probably damaging 0.96
R7824:Ubr5 UTSW 15 37,991,566 (GRCm39) missense probably damaging 0.97
R7841:Ubr5 UTSW 15 37,981,150 (GRCm39) missense
R7869:Ubr5 UTSW 15 37,980,076 (GRCm39) missense probably null
R7896:Ubr5 UTSW 15 38,041,817 (GRCm39) missense probably benign 0.31
R8191:Ubr5 UTSW 15 38,006,751 (GRCm39) missense
R8342:Ubr5 UTSW 15 38,025,081 (GRCm39) missense
R8745:Ubr5 UTSW 15 38,025,039 (GRCm39) missense
R8811:Ubr5 UTSW 15 38,041,123 (GRCm39) missense
R8904:Ubr5 UTSW 15 38,042,153 (GRCm39) missense
R8955:Ubr5 UTSW 15 38,029,825 (GRCm39) missense
R8956:Ubr5 UTSW 15 38,015,367 (GRCm39) missense probably damaging 1.00
R9051:Ubr5 UTSW 15 38,002,503 (GRCm39) missense
R9102:Ubr5 UTSW 15 38,018,596 (GRCm39) missense
R9183:Ubr5 UTSW 15 37,997,420 (GRCm39) missense
R9235:Ubr5 UTSW 15 38,045,982 (GRCm39) missense
R9392:Ubr5 UTSW 15 37,984,251 (GRCm39) missense
R9473:Ubr5 UTSW 15 38,002,617 (GRCm39) missense
R9596:Ubr5 UTSW 15 37,986,213 (GRCm39) missense
R9659:Ubr5 UTSW 15 37,984,254 (GRCm39) missense
R9683:Ubr5 UTSW 15 37,978,271 (GRCm39) missense
RF024:Ubr5 UTSW 15 38,028,896 (GRCm39) missense
X0024:Ubr5 UTSW 15 37,992,304 (GRCm39) missense probably damaging 1.00
Z1177:Ubr5 UTSW 15 38,040,999 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TTGCCTTGTAGAACAACTTGTGCCT -3'
(R):5'- GGCTCTGAACTGGACTCATCTCCT -3'

Sequencing Primer
(F):5'- CCTGAAGTCTTCTAAGTTGGTAAAC -3'
(R):5'- ctgagtggtgggattacaagg -3'
Posted On 2014-05-14