Incidental Mutation 'R7816:Ubr5'
ID 601563
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 045870-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7816 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 37967572-38079098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37980076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 2434 (A2434V)
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 null
Transcript: ENSMUST00000110336
AA Change: A2434V
SMART Domains Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: A2434V

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 null
Transcript: ENSMUST00000226414
AA Change: A2440V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000228333
Meta Mutation Damage Score 0.1227 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,331,588 (GRCm39) S1321P probably benign Het
Abcb1a T C 5: 8,736,132 (GRCm39) V175A possibly damaging Het
Adamts20 T A 15: 94,220,725 (GRCm39) M1403L probably benign Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Amotl2 T A 9: 102,608,853 (GRCm39) I789K probably benign Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bcar3 C T 3: 122,220,343 (GRCm39) T80I probably benign Het
Bcas1 G T 2: 170,248,347 (GRCm39) F181L probably benign Het
Cacnb1 T C 11: 97,896,115 (GRCm39) E389G probably damaging Het
Cd52 A T 4: 133,821,199 (GRCm39) probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Coro2a T C 4: 46,546,809 (GRCm39) D182G probably benign Het
Crp T C 1: 172,526,277 (GRCm39) S121P possibly damaging Het
Csnka2ip T C 16: 64,299,852 (GRCm39) probably benign Het
Cttnbp2 T C 6: 18,448,413 (GRCm39) D82G probably damaging Het
Cyp2b9 A G 7: 25,900,517 (GRCm39) N385S probably benign Het
Dppa1 A G 11: 46,507,003 (GRCm39) S26P possibly damaging Het
Eif4e3 T C 6: 99,617,599 (GRCm39) R91G probably damaging Het
F13a1 A T 13: 37,209,745 (GRCm39) N73K probably benign Het
Fbxl13 T C 5: 21,748,785 (GRCm39) Y378C probably benign Het
Glis2 G A 16: 4,431,328 (GRCm39) R285H probably damaging Het
Gm17174 T A 14: 51,829,569 (GRCm39) probably benign Het
Golga1 G A 2: 38,942,110 (GRCm39) S102F probably damaging Het
Hdac1 A T 4: 129,411,888 (GRCm39) Y336N probably damaging Het
Hfe G T 13: 23,888,382 (GRCm39) T168K possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv1-56 T C 12: 115,206,846 (GRCm39) S4G probably benign Het
Ino80d A G 1: 63,125,556 (GRCm39) Y74H probably damaging Het
Ints1 A T 5: 139,757,134 (GRCm39) H427Q possibly damaging Het
Itpkb T A 1: 180,241,454 (GRCm39) V708E probably damaging Het
Jmjd4 G T 11: 59,341,162 (GRCm39) G31V probably benign Het
Kcnh5 C T 12: 75,023,457 (GRCm39) C537Y probably damaging Het
Kcnj11 A T 7: 45,749,281 (GRCm39) L14Q probably damaging Het
Lipo4 A T 19: 33,491,642 (GRCm39) W114R probably damaging Het
Lrrc9 T A 12: 72,542,466 (GRCm39) I1096N probably damaging Het
Lyzl6 C T 11: 103,527,680 (GRCm39) V15I probably benign Het
Map4k4 A G 1: 40,053,368 (GRCm39) T856A possibly damaging Het
Mks1 T A 11: 87,751,542 (GRCm39) W346R probably damaging Het
Mtmr14 T C 6: 113,243,263 (GRCm39) Y32H probably damaging Het
Muc13 A G 16: 33,619,386 (GRCm39) S45G unknown Het
Mx2 G A 16: 97,346,812 (GRCm39) G93D probably damaging Het
Noc4l A T 5: 110,797,539 (GRCm39) V365E probably benign Het
Odf2l T C 3: 144,856,776 (GRCm39) I577T probably damaging Het
Or4l1 T C 14: 50,166,622 (GRCm39) I126M probably damaging Het
Peg10 C CTCT 6: 4,756,453 (GRCm39) probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pnoc A T 14: 65,639,307 (GRCm39) I186N possibly damaging Het
Pou4f3 A G 18: 42,528,251 (GRCm39) I65V probably benign Het
Pramel23 G T 4: 143,424,764 (GRCm39) N226K probably benign Het
Prss1l T C 6: 41,371,707 (GRCm39) L51P probably damaging Het
Ptpn21 G A 12: 98,648,791 (GRCm39) A955V probably damaging Het
Rabgap1 G T 2: 37,453,476 (GRCm39) R968L probably benign Het
Rarres1 T C 3: 67,386,677 (GRCm39) N282S probably damaging Het
Rgs17 T C 10: 5,791,501 (GRCm39) N72S probably benign Het
Rp1 T A 1: 4,417,926 (GRCm39) N1062I probably damaging Het
Rpn1 T A 6: 88,080,378 (GRCm39) V559D possibly damaging Het
Rrbp1 A T 2: 143,830,855 (GRCm39) N437K probably damaging Het
Rtn4r C A 16: 17,969,399 (GRCm39) Q276K probably benign Het
Rwdd4a T C 8: 47,990,335 (GRCm39) S16P probably damaging Het
S1pr1 A G 3: 115,505,947 (GRCm39) S216P possibly damaging Het
Scn8a C A 15: 100,908,917 (GRCm39) T795K possibly damaging Het
Spryd3 A C 15: 102,026,141 (GRCm39) F401C probably damaging Het
Stk36 G T 1: 74,650,328 (GRCm39) E287* probably null Het
Tbc1d1 G T 5: 64,507,095 (GRCm39) S1104I probably damaging Het
Tex15 A G 8: 34,071,683 (GRCm39) D2410G probably benign Het
Tmem92 T A 11: 94,669,784 (GRCm39) I116F possibly damaging Het
Trp53bp2 A G 1: 182,276,260 (GRCm39) E747G probably damaging Het
Trp63 A T 16: 25,707,990 (GRCm39) D562V probably damaging Het
Ttc21b A G 2: 66,077,705 (GRCm39) Y167H possibly damaging Het
Uggt1 G A 1: 36,202,396 (GRCm39) S1067F possibly damaging Het
Vmn2r103 T A 17: 20,014,476 (GRCm39) Y423N probably benign Het
Vmn2r111 A G 17: 22,792,083 (GRCm39) Y58H probably damaging Het
Ypel3 T A 7: 126,377,013 (GRCm39) V2E probably damaging Het
Ythdf3 T C 3: 16,243,681 (GRCm39) V34A probably damaging Het
Zfp180 A T 7: 23,804,570 (GRCm39) S330C probably damaging Het
Zfp292 G A 4: 34,809,865 (GRCm39) P1060S probably benign Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp981 C T 4: 146,622,100 (GRCm39) R342C probably benign 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
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'- GCACTTATGTATTTGAAGACACCAC -3'
(R):5'- AGCTGTCTGACCTTGCAGTTTC -3'

Sequencing Primer
(F):5'- AACCTAAGGCCTCTGGGAG -3'
(R):5'- CTGACCTTGCAGTTTCATAAAAAGCC -3'
Posted On 2019-12-03