Incidental Mutation 'R9051:Ubr5'
ID 688402
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 068877-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9051 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 37967572-38079098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38002503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1510 (V1510A)
Ref Sequence ENSEMBL: ENSMUSP00000105965 (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: V1510A

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 damaging
Transcript: ENSMUST00000226414
AA Change: V1516A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,285,232 (GRCm39) T3289S probably damaging Het
Actr1b G T 1: 36,740,534 (GRCm39) Q240K probably benign Het
Adamts19 T C 18: 59,034,048 (GRCm39) V341A probably damaging Het
Akirin2 C A 4: 34,551,148 (GRCm39) S35* probably null Het
Alg3 G T 16: 20,427,765 (GRCm39) Q90K probably benign Het
Alox12 C T 11: 70,138,153 (GRCm39) R394H possibly damaging Het
Ankrd17 A C 5: 90,411,134 (GRCm39) M1387R probably damaging Het
Anp32b T G 4: 46,468,592 (GRCm39) F121V possibly damaging Het
Atp2b2 A G 6: 113,740,566 (GRCm39) V815A probably damaging Het
Atxn7l1 T C 12: 33,417,420 (GRCm39) L527S probably benign Het
B9d2 C T 7: 25,385,462 (GRCm39) L91F possibly damaging Het
Bcl2l11 T A 2: 128,000,221 (GRCm39) I188N probably damaging Het
Bnc2 A C 4: 84,210,138 (GRCm39) S744A probably benign Het
Casr T G 16: 36,330,414 (GRCm39) M307L probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cd109 TTATA TTATATATA 9: 78,619,813 (GRCm39) probably benign Het
Cd22 A G 7: 30,575,449 (GRCm39) S198P probably benign Het
Cd37 C A 7: 44,886,622 (GRCm39) V99L probably benign Het
Cdkn1c A G 7: 143,013,964 (GRCm39) S161P possibly damaging Het
Chi3l1 G T 1: 134,111,919 (GRCm39) probably null Het
Col4a2 T C 8: 11,498,198 (GRCm39) F1669S probably damaging Het
Dchs2 A T 3: 83,261,493 (GRCm39) H2587L probably benign Het
Ddx19a A T 8: 111,710,228 (GRCm39) M124K probably benign Het
Dnhd1 A T 7: 105,341,933 (GRCm39) H1244L possibly damaging Het
Dnpep G A 1: 75,292,329 (GRCm39) P165L probably damaging Het
Dpp3 T C 19: 4,973,172 (GRCm39) R141G probably benign Het
Dpysl3 T C 18: 43,462,814 (GRCm39) D521G probably damaging Het
Dusp4 T A 8: 35,284,345 (GRCm39) M220K probably damaging Het
Duxf4 G A 10: 58,071,711 (GRCm39) P168S probably damaging Het
Edc4 T A 8: 106,613,833 (GRCm39) L391Q probably damaging Het
Edrf1 A C 7: 133,273,207 (GRCm39) I1221L probably benign Het
Elavl2 A G 4: 91,199,847 (GRCm39) L12P probably benign Het
Fastkd3 T A 13: 68,733,071 (GRCm39) V464D probably damaging Het
Flt4 C A 11: 49,527,598 (GRCm39) N920K probably benign Het
Gimap3 T C 6: 48,742,259 (GRCm39) T224A probably benign Het
Gm9772 T A 17: 22,225,565 (GRCm39) K112* probably null Het
Gp5 C A 16: 30,127,976 (GRCm39) V233L Het
Gpr25 A T 1: 136,188,026 (GRCm39) W196R probably benign Het
Hs3st4 G A 7: 123,582,680 (GRCm39) G93S probably damaging Het
Igsf10 A G 3: 59,236,668 (GRCm39) L1171S probably benign Het
Itgb7 C T 15: 102,126,359 (GRCm39) G526S possibly damaging Het
Kcnh8 G A 17: 53,141,642 (GRCm39) C295Y probably damaging Het
Klhl8 A G 5: 104,015,709 (GRCm39) probably null Het
Krt1c T A 15: 101,726,317 (GRCm39) I74F unknown Het
Lamp5 G T 2: 135,911,054 (GRCm39) M262I probably benign Het
Lrp5 G T 19: 3,680,156 (GRCm39) R443S possibly damaging Het
Lrrc66 G T 5: 73,765,267 (GRCm39) A592E probably benign Het
Lrrc66 C T 5: 73,765,268 (GRCm39) A592T probably benign Het
Mettl23 T A 11: 116,744,865 (GRCm39) V93D unknown Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mkrn2os G A 6: 115,562,325 (GRCm39) R213W probably benign Het
Mrps36 T A 13: 100,877,715 (GRCm39) I22L probably damaging Het
Msantd5f4 A G 4: 73,557,185 (GRCm39) N6S possibly damaging Het
Myocd T C 11: 65,077,795 (GRCm39) R667G probably benign Het
Ncapg T A 5: 45,853,140 (GRCm39) L869M probably damaging Het
Ndst3 T C 3: 123,465,549 (GRCm39) N141S probably benign Het
Neu2 A T 1: 87,524,965 (GRCm39) R317* probably null Het
Nf1 G T 11: 79,364,168 (GRCm39) V1533F probably damaging Het
Npy4r T A 14: 33,869,083 (GRCm39) R68S possibly damaging Het
Nr1h5 T C 3: 102,853,427 (GRCm39) H360R probably null Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or4f14c T C 2: 111,941,441 (GRCm39) D52G probably damaging Het
Or9s15 T C 1: 92,524,978 (GRCm39) S246P probably damaging Het
Osmr A C 15: 6,882,027 (GRCm39) V39G probably damaging Het
Plekhm2 T C 4: 141,359,732 (GRCm39) D345G possibly damaging Het
Prkaa2 G T 4: 104,906,600 (GRCm39) S165* probably null Het
Qser1 A T 2: 104,593,292 (GRCm39) F1575Y possibly damaging Het
Rasl11a C A 5: 146,782,107 (GRCm39) D27E probably benign Het
Ret A T 6: 118,142,888 (GRCm39) Y929* probably null Het
Samd9l T A 6: 3,373,493 (GRCm39) E1256V probably benign Het
Scnn1g A G 7: 121,341,566 (GRCm39) I243V possibly damaging Het
Slc6a3 C T 13: 73,718,031 (GRCm39) R514* probably null Het
Sorcs3 C T 19: 48,194,809 (GRCm39) A64V probably benign Het
Sos1 G T 17: 80,715,723 (GRCm39) N1011K probably benign Het
Srbd1 C A 17: 86,428,115 (GRCm39) A373S possibly damaging Het
Tas1r1 C T 4: 152,122,833 (GRCm39) W4* probably null Het
Tcf15 C T 2: 151,985,690 (GRCm39) R49C probably damaging Het
Tex30 A G 1: 44,127,136 (GRCm39) V124A possibly damaging Het
Tgif1 T C 17: 71,151,882 (GRCm39) D243G Het
Tgtp1 T G 11: 48,877,916 (GRCm39) D263A probably damaging Het
Themis3 T A 17: 66,862,864 (GRCm39) T365S probably benign Het
Thoc2l C A 5: 104,666,818 (GRCm39) P447T probably benign Het
Tprg1 A T 16: 25,231,662 (GRCm39) I213F probably damaging Het
Traf4 A T 11: 78,052,005 (GRCm39) C160S probably damaging Het
Trio T C 15: 27,732,770 (GRCm39) E3037G possibly damaging Het
Ttbk2 G T 2: 120,575,911 (GRCm39) S1022* probably null Het
Ttc6 T C 12: 57,783,949 (GRCm39) Y1803H probably damaging Het
Ttn A C 2: 76,549,452 (GRCm39) Y31742D probably benign Het
Ttn G T 2: 76,617,595 (GRCm39) P16292Q probably damaging Het
Vac14 A G 8: 111,379,869 (GRCm39) D389G probably benign Het
Vwa8 A G 14: 79,324,150 (GRCm39) D1151G probably benign Het
Zfp608 T C 18: 55,032,266 (GRCm39) N558S 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
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
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'- TAGAGAGGTGTTCCAATTCCAAAAG -3'
(R):5'- TGCAAACGTGTGTTTCAAGCAC -3'

Sequencing Primer
(F):5'- TTAATCCATGGTGGGCAGATAAGTAC -3'
(R):5'- GCACTGCTTCCTTATGCTGTAGAAG -3'
Posted On 2021-11-19