Incidental Mutation 'R0234:Ubr5'
ID 59069
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 038475-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0234 (G1)
Quality Score 219
Status Not validated
Chromosome 15
Chromosomal Location 37967572-38079098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37968737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 2727 (T2727A)
Ref Sequence ENSEMBL: ENSMUSP00000105965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110336] [ENSMUST00000226414] [ENSMUST00000228333]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000110336
AA Change: T2727A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: T2727A

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: ENSMUST00000226369
Predicted Effect possibly damaging
Transcript: ENSMUST00000226414
AA Change: T2733A

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228029
Predicted Effect probably benign
Transcript: ENSMUST00000228333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228804
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,660,941 (GRCm39) R197G possibly damaging Het
Acacb A T 5: 114,347,878 (GRCm39) H983L probably damaging Het
Adal T A 2: 120,978,798 (GRCm39) D139E probably benign Het
Adam6b G A 12: 113,454,230 (GRCm39) R349H probably damaging Het
Agap1 A G 1: 89,598,934 (GRCm39) K331E probably damaging Het
Alyref T C 11: 120,489,133 (GRCm39) D11G probably damaging Het
B3gat1 A G 9: 26,667,377 (GRCm39) E203G probably damaging Het
Bsn T C 9: 107,993,595 (GRCm39) E719G possibly damaging Het
Cap2 G C 13: 46,791,498 (GRCm39) probably null Het
Ccni A G 5: 93,350,186 (GRCm39) V31A probably benign Het
Cdcp3 T A 7: 130,796,032 (GRCm39) probably null Het
Cfap54 A T 10: 92,735,022 (GRCm39) L2343* probably null Het
Clns1a T A 7: 97,363,239 (GRCm39) Y204N possibly damaging Het
Cox11 C T 11: 90,535,326 (GRCm39) T259I probably damaging Het
Dsp A G 13: 38,371,869 (GRCm39) N940S probably benign Het
Erbb2 T C 11: 98,327,265 (GRCm39) V1181A probably benign Het
Exoc4 T C 6: 33,839,022 (GRCm39) V686A possibly damaging Het
F830045P16Rik A G 2: 129,305,384 (GRCm39) V330A possibly damaging Het
Fbf1 A C 11: 116,045,860 (GRCm39) F245V probably damaging Het
Fut10 T A 8: 31,726,225 (GRCm39) F327I probably damaging Het
Galnt1 C T 18: 24,387,690 (GRCm39) P144S probably damaging Het
Garin4 T C 1: 190,895,105 (GRCm39) S513G probably benign Het
Ghrhr A T 6: 55,356,171 (GRCm39) D88V possibly damaging Het
Greb1l T A 18: 10,560,331 (GRCm39) C1864S probably damaging Het
H1f2 T C 13: 23,923,106 (GRCm39) I92T probably benign Het
Hps1 T C 19: 42,750,992 (GRCm39) E336G probably damaging Het
Ibsp GGAAGAAGAAGAAGAAGA GGAAGAAGAAGAAGA 5: 104,457,935 (GRCm39) probably benign Het
Irgc C A 7: 24,132,753 (GRCm39) E21D possibly damaging Het
Itsn1 A T 16: 91,625,168 (GRCm39) R590* probably null Het
Katnip T C 7: 125,394,557 (GRCm39) V211A probably benign Het
Lmln T C 16: 32,886,694 (GRCm39) V67A probably damaging Het
Lsm14a T C 7: 34,065,042 (GRCm39) Q179R probably damaging Het
Ltbr A C 6: 125,289,836 (GRCm39) D119E probably benign Het
Mrc1 A G 2: 14,284,705 (GRCm39) T565A possibly damaging Het
Muc6 A C 7: 141,235,939 (GRCm39) N473K possibly damaging Het
Myocd A T 11: 65,078,066 (GRCm39) D448E probably benign Het
Neil2 T A 14: 63,420,975 (GRCm39) I239F probably damaging Het
Npnt A G 3: 132,620,175 (GRCm39) F123S possibly damaging Het
Or2g25 T A 17: 37,970,997 (GRCm39) I76F probably damaging Het
Or4f15 T C 2: 111,813,645 (GRCm39) Y258C probably damaging Het
Or52x1 C A 7: 104,852,821 (GRCm39) C243F probably damaging Het
Or56a5 T C 7: 104,793,281 (GRCm39) D73G probably damaging Het
Or5d37 T A 2: 87,923,366 (GRCm39) R305* probably null Het
Or8d1b A C 9: 38,887,547 (GRCm39) probably null Het
Or9i2 C T 19: 13,815,902 (GRCm39) V212M possibly damaging Het
Pcnx3 T C 19: 5,722,646 (GRCm39) T941A probably benign Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Pitrm1 C A 13: 6,625,115 (GRCm39) Y864* probably null Het
Plcb4 T C 2: 135,823,995 (GRCm39) I844T probably benign Het
Plekhg5 T C 4: 152,196,676 (GRCm39) C695R probably damaging Het
Ppp1r3b T A 8: 35,851,655 (GRCm39) F165I probably damaging Het
Prr5 T A 15: 84,587,322 (GRCm39) F357L probably damaging Het
Rasgrf1 A T 9: 89,891,419 (GRCm39) I1046F probably damaging Het
Rbm15b T C 9: 106,762,563 (GRCm39) Y535C probably damaging Het
Rbp3 A T 14: 33,677,858 (GRCm39) E602V probably damaging Het
Rimklb T C 6: 122,433,292 (GRCm39) N343S probably benign Het
Rrp12 A G 19: 41,860,199 (GRCm39) L1008P probably damaging Het
Sec63 C T 10: 42,674,794 (GRCm39) R226C probably damaging Het
Sirpa T C 2: 129,457,388 (GRCm39) V154A probably damaging Het
Slc13a5 C G 11: 72,141,626 (GRCm39) V405L probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc22a23 G A 13: 34,367,244 (GRCm39) T588I probably damaging Het
Slc22a27 C A 19: 7,904,156 (GRCm39) probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc5a5 A T 8: 71,342,277 (GRCm39) M258K probably damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Stk11ip A G 1: 75,505,711 (GRCm39) D460G possibly damaging Het
Syn3 T A 10: 86,284,750 (GRCm39) I117F possibly damaging Het
Tead4 C T 6: 128,220,365 (GRCm39) A224T probably damaging Het
Tmtc3 A T 10: 100,286,184 (GRCm39) N546K probably benign Het
Tnn T A 1: 159,916,036 (GRCm39) H1227L probably damaging Het
Tor2a G A 2: 32,648,716 (GRCm39) G62D probably damaging Het
Trf T C 9: 103,104,078 (GRCm39) probably null Het
Vmn2r27 T A 6: 124,208,578 (GRCm39) T56S probably benign Het
Wipf3 T G 6: 54,473,486 (GRCm39) L458R probably damaging Het
Zfp236 T C 18: 82,648,119 (GRCm39) K966R probably damaging Het
Zfp27 T A 7: 29,593,532 (GRCm39) H811L possibly damaging Het
Zfp366 A G 13: 99,370,768 (GRCm39) H496R probably damaging Het
Zfp467 A T 6: 48,415,689 (GRCm39) V321E 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
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
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'- ACCAAAATTCTTGGTCTTAATGGCGAGT -3'
(R):5'- CGGGCCTCAAGACAGTTACAACAAAA -3'

Sequencing Primer
(F):5'- GTCTTAATGGCGAGTAGTAATTTTTG -3'
(R):5'- catcatttcttctctttctctctcc -3'
Posted On 2013-07-11