Incidental Mutation 'R7896:Ubr5'
ID 609711
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 045948-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7896 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 37967572-38079098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38041817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 204 (V204A)
Ref Sequence ENSEMBL: ENSMUSP00000154293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110336] [ENSMUST00000226414]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: V204A

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: V204A

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0690 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (82/83)
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
Abca7 A G 10: 79,840,792 (GRCm39) T894A probably damaging Het
Abcc10 T A 17: 46,635,235 (GRCm39) H256L probably benign Het
Abcc6 A G 7: 45,626,803 (GRCm39) L1418P probably damaging Het
Actn2 G A 13: 12,309,203 (GRCm39) A290V possibly damaging Het
Actrt2 A T 4: 154,751,652 (GRCm39) D161E probably benign Het
Adam19 T A 11: 46,028,370 (GRCm39) C668S probably damaging Het
Alg8 T C 7: 97,040,123 (GRCm39) L435S probably damaging Het
Amz2 G A 11: 109,327,413 (GRCm39) E322K possibly damaging Het
Ankrd12 T A 17: 66,292,680 (GRCm39) R918* probably null Het
Atp5pb A G 3: 105,863,259 (GRCm39) I59T probably damaging Het
Bach1 T A 16: 87,515,893 (GRCm39) C145S possibly damaging Het
Bcl6b G T 11: 70,117,848 (GRCm39) S309* probably null Het
Birc6 G T 17: 74,929,077 (GRCm39) R2323L probably damaging Het
Catspere2 A T 1: 177,938,740 (GRCm39) M538L probably benign Het
Ccdc154 A T 17: 25,390,800 (GRCm39) M647L probably benign Het
Cdc14a T C 3: 116,088,482 (GRCm39) T447A probably benign Het
Chst9 C T 18: 15,585,846 (GRCm39) R239H probably damaging Het
Cs C T 10: 128,189,004 (GRCm39) A171V probably damaging Het
D3Ertd751e T A 3: 41,710,508 (GRCm39) F107I probably benign Het
D430041D05Rik T C 2: 104,088,385 (GRCm39) D197G probably benign Het
Dcdc2c G A 12: 28,520,619 (GRCm39) Q486* probably null Het
Dolk A T 2: 30,175,961 (GRCm39) V28E possibly damaging Het
Dpf2 C T 19: 5,954,333 (GRCm39) S191N probably benign Het
Eml3 T A 19: 8,911,171 (GRCm39) F267I possibly damaging Het
Entrep2 T C 7: 64,426,557 (GRCm39) H232R probably damaging Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Foxo3 T C 10: 42,073,732 (GRCm39) S262G possibly damaging Het
Gm1527 T G 3: 28,975,742 (GRCm39) probably null Het
Gm49380 G A 9: 44,024,096 (GRCm39) L51F probably damaging Het
Gm9195 A T 14: 72,693,178 (GRCm39) H1582Q unknown Het
Grip1 A G 10: 119,814,450 (GRCm39) Q327R possibly damaging Het
Gstt1 A G 10: 75,619,976 (GRCm39) F207S probably damaging Het
Itsn1 G A 16: 91,615,446 (GRCm39) R397H unknown Het
Kif16b A G 2: 142,675,995 (GRCm39) probably null Het
Kif5a A G 10: 127,077,873 (GRCm39) V407A probably benign Het
Lrrc57 C A 2: 120,438,372 (GRCm39) D134Y probably damaging Het
Map1a A G 2: 121,135,657 (GRCm39) T2158A probably benign Het
Mink1 A G 11: 70,503,108 (GRCm39) N1068S possibly damaging Het
Mmp8 A T 9: 7,564,978 (GRCm39) I295F probably damaging Het
Muc21 G A 17: 35,930,917 (GRCm39) P1090S unknown Het
Mup18 G T 4: 61,590,925 (GRCm39) probably null Het
Myo1h G T 5: 114,474,372 (GRCm39) probably null Het
Nap1l5 C T 6: 58,883,505 (GRCm39) G52S probably damaging Het
Npr3 A G 15: 11,883,448 (GRCm39) F327S probably damaging Het
Nrxn2 C A 19: 6,582,083 (GRCm39) Q1673K possibly damaging Het
Or13a20 G T 7: 140,232,814 (GRCm39) L307F probably benign Het
Or2r3 T A 6: 42,449,100 (GRCm39) D4V probably benign Het
Paf1 T C 7: 28,096,072 (GRCm39) Y260H probably damaging Het
Pcmtd2 T C 2: 181,496,776 (GRCm39) I251T probably damaging Het
Pde9a C T 17: 31,678,941 (GRCm39) Q261* probably null Het
Ppip5k1 T C 2: 121,177,811 (GRCm39) D332G probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppp1r36 A G 12: 76,474,923 (GRCm39) probably null Het
Pprc1 T C 19: 46,049,888 (GRCm39) L67P unknown Het
Prkdc T G 16: 15,526,767 (GRCm39) L1346R probably damaging Het
Prl7c1 A T 13: 27,962,070 (GRCm39) M79K possibly damaging Het
Ptprb C T 10: 116,205,362 (GRCm39) probably null Het
R3hdm1 T A 1: 128,096,703 (GRCm39) probably null Het
Ralgapa1 A G 12: 55,744,663 (GRCm39) V1276A probably benign Het
Rapsn T C 2: 90,875,300 (GRCm39) L361P probably benign Het
Rbm22 G T 18: 60,702,505 (GRCm39) A275S probably benign Het
Rsph3a A G 17: 8,164,940 (GRCm39) Y100C probably damaging Het
Rsrp1 A T 4: 134,651,274 (GRCm39) M13L unknown Het
Rtn4 T G 11: 29,655,536 (GRCm39) D169E probably damaging Het
Setd7 C A 3: 51,444,077 (GRCm39) probably null Het
Slc38a2 A G 15: 96,591,466 (GRCm39) I206T probably damaging Het
Slc9a8 T C 2: 167,307,278 (GRCm39) F321L probably benign Het
Sppl2c A G 11: 104,077,956 (GRCm39) D252G possibly damaging Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
Syne2 A G 12: 76,082,397 (GRCm39) T117A probably damaging Het
Szt2 A T 4: 118,260,110 (GRCm39) F79I possibly damaging Het
Tlr3 T A 8: 45,850,090 (GRCm39) K860* probably null Het
Ttn T C 2: 76,625,018 (GRCm39) S15187G probably benign Het
Unc5c A T 3: 141,476,922 (GRCm39) T363S possibly damaging Het
Usp40 G A 1: 87,906,201 (GRCm39) T678I possibly damaging Het
Vmn1r62 A T 7: 5,678,609 (GRCm39) T97S probably damaging Het
Vmn1r85 T A 7: 12,818,448 (GRCm39) H232L probably benign Het
Vmn2r67 A G 7: 84,785,920 (GRCm39) I695T probably damaging Het
Zfp383 C A 7: 29,611,626 (GRCm39) D35E probably damaging Het
Zfp65 A T 13: 67,877,174 (GRCm39) probably null Het
Zfp692 A G 11: 58,205,062 (GRCm39) K437R probably damaging Het
Zfp831 A T 2: 174,488,921 (GRCm39) T1199S possibly damaging Het
Zfr T A 15: 12,146,463 (GRCm39) I338N probably 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
R1721:Ubr5 UTSW 15 38,042,090 (GRCm39) missense probably benign 0.18
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
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'- AGCTCAGTCGAAGGATCACC -3'
(R):5'- TCCTGAGGAGCTGATATCACAG -3'

Sequencing Primer
(F):5'- GTCGAAGGATCACCCAAGCAG -3'
(R):5'- ACAGGTGTGTGCTTTGAGAACC -3'
Posted On 2019-12-20