Incidental Mutation 'R5715:Ubr5'
ID 451139
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 043336-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5715 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 37967572-38079098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38002477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1519 (S1519T)
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: S1519T

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: S1519T

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 noncoding transcript
Transcript: ENSMUST00000226137
Predicted Effect probably benign
Transcript: ENSMUST00000226414
AA Change: S1525T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228504
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,910,777 (GRCm39) Y552F probably damaging Het
Asprv1 T A 6: 86,605,596 (GRCm39) D147E probably benign Het
Atg4c G T 4: 99,146,639 (GRCm39) L405F probably damaging Het
Birc6 C T 17: 74,938,615 (GRCm39) L2670F probably damaging Het
Cdc20 T C 4: 118,292,015 (GRCm39) D379G probably damaging Het
Chd6 T C 2: 160,791,798 (GRCm39) M2520V probably benign Het
Clca4b A G 3: 144,619,018 (GRCm39) V707A probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Col12a1 A T 9: 79,523,347 (GRCm39) C2743* probably null Het
Coq6 C A 12: 84,413,681 (GRCm39) D70E probably benign Het
Cspg4 T A 9: 56,798,335 (GRCm39) V1450D possibly damaging Het
Dnah7a A G 1: 53,452,937 (GRCm39) L3847P probably damaging Het
Drd2 T A 9: 49,316,189 (GRCm39) H316Q probably benign Het
Dusp19 T A 2: 80,461,330 (GRCm39) N206K probably benign Het
Fam13c T G 10: 70,370,670 (GRCm39) F270C probably damaging Het
Fam20a T C 11: 109,569,257 (GRCm39) E246G probably damaging Het
Fbxo31 A G 8: 122,305,302 (GRCm39) F65L probably damaging Het
Fshr T A 17: 89,293,824 (GRCm39) probably null Het
Fstl4 T C 11: 52,891,243 (GRCm39) V127A possibly damaging Het
Gdpd4 A T 7: 97,610,804 (GRCm39) I75F probably benign Het
Grm5 C A 7: 87,779,464 (GRCm39) A968E probably benign Het
Gucy2g A C 19: 55,221,587 (GRCm39) F305V possibly damaging Het
Hivep3 T C 4: 119,953,570 (GRCm39) F629L probably benign Het
Hoxb1 A G 11: 96,257,152 (GRCm39) E167G probably benign Het
Hoxd4 T C 2: 74,557,708 (GRCm39) L29P probably damaging Het
Ikbkb A G 8: 23,168,866 (GRCm39) L211P probably damaging Het
Insc T C 7: 114,449,076 (GRCm39) V499A probably benign Het
Irak3 A T 10: 119,978,641 (GRCm39) H511Q possibly damaging Het
Itpripl1 T C 2: 126,983,927 (GRCm39) E65G probably damaging Het
Lurap1l T A 4: 80,871,958 (GRCm39) S150R possibly damaging Het
Mab21l3 C T 3: 101,730,723 (GRCm39) R172Q probably benign Het
Macf1 T C 4: 123,577,807 (GRCm39) D59G probably damaging Het
Mettl21a A T 1: 64,654,314 (GRCm39) S68T probably benign Het
Mlxip T A 5: 123,578,121 (GRCm39) W146R probably damaging Het
Mpp2 T A 11: 101,953,087 (GRCm39) N285I probably damaging Het
Mrgprb4 T C 7: 47,848,787 (GRCm39) N47S probably damaging Het
Msi2 A G 11: 88,276,889 (GRCm39) Y237H probably damaging Het
Muc4 C T 16: 32,570,734 (GRCm39) T598I possibly damaging Het
Musk A T 4: 58,333,663 (GRCm39) I253F probably damaging Het
Myo5b G T 18: 74,875,246 (GRCm39) C1550F possibly damaging Het
Nckap5l T C 15: 99,321,457 (GRCm39) T1137A probably benign Het
Neb T C 2: 52,141,780 (GRCm39) D3009G probably damaging Het
Nxph1 T A 6: 9,247,740 (GRCm39) V237E probably damaging Het
Or52a33 A C 7: 103,289,009 (GRCm39) S113A probably damaging Het
Pla2g12a A G 3: 129,688,591 (GRCm39) K150E probably damaging Het
Potegl T C 2: 23,097,989 (GRCm39) Y56H possibly damaging Het
Pramel30 A G 4: 144,057,870 (GRCm39) D159G possibly damaging Het
Ptpn23 G A 9: 110,216,143 (GRCm39) R1238W probably damaging Het
Pts C T 9: 50,433,578 (GRCm39) G124R probably damaging Het
Rfk A T 19: 17,376,002 (GRCm39) I99F probably benign Het
Rictor A T 15: 6,780,197 (GRCm39) R151* probably null Het
Scn2a T A 2: 65,547,928 (GRCm39) I1040N probably benign Het
Serinc5 A C 13: 92,842,710 (GRCm39) T387P probably damaging Het
Sh3bp5l A G 11: 58,236,841 (GRCm39) Q266R possibly damaging Het
Slc14a2 T C 18: 78,201,551 (GRCm39) Y656C probably damaging Het
Slc26a3 T A 12: 31,498,842 (GRCm39) probably null Het
Slc3a2 G T 19: 8,685,594 (GRCm39) H168Q probably benign Het
Smarca2 A T 19: 26,626,522 (GRCm39) I449L probably benign Het
Smarcc1 T C 9: 110,025,435 (GRCm39) V704A possibly damaging Het
Sox13 A G 1: 133,313,921 (GRCm39) probably null Het
Sptbn5 T C 2: 119,902,985 (GRCm39) E7G probably damaging Het
Stard10 A G 7: 100,971,110 (GRCm39) D26G probably damaging Het
Tap1 A T 17: 34,411,868 (GRCm39) R91* probably null Het
Tgfbrap1 A T 1: 43,099,097 (GRCm39) V239D possibly damaging Het
Tmem209 A T 6: 30,497,922 (GRCm39) Y124* probably null Het
Tmprss2 T A 16: 97,370,183 (GRCm39) E327V possibly damaging Het
Ttbk1 T C 17: 46,790,133 (GRCm39) Y104C probably damaging Het
Ttll10 A T 4: 156,129,848 (GRCm39) F154I probably damaging Het
Ubn2 T A 6: 38,438,412 (GRCm39) Y40* probably null Het
Ugt3a1 A C 15: 9,306,430 (GRCm39) D193A probably damaging Het
Upf1 A T 8: 70,805,628 (GRCm39) Y6N probably damaging Het
Vmn2r103 A T 17: 20,015,201 (GRCm39) D447V probably benign Het
Vps39 T C 2: 120,155,717 (GRCm39) N519S possibly damaging Het
Zfp109 T C 7: 23,928,995 (GRCm39) E138G possibly damaging Het
Znrf3 A C 11: 5,236,239 (GRCm39) V157G 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
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
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'- TTTAGTAGAGAGGTGTTCCAATTCC -3'
(R):5'- CACTGCTTCCTTATGCTGTAGAAG -3'

Sequencing Primer
(F):5'- TAGAGAGGTGTTCCAATTCCAAAAG -3'
(R):5'- GCTTCCTTATGCTGTAGAAGAATTG -3'
Posted On 2017-01-03