Incidental Mutation 'IGL00089:Ubr5'
ID927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubr5
Ensembl Gene ENSMUSG00000037487
Gene Nameubiquitin protein ligase E3 component n-recognin 5
SynonymsEdd, 4432411E13Rik, Edd1
Accession Numbers

NCBI RefSeq: NM_001081359.2, NM_001112721.1; MGI:1918040

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00089
Quality Score
Status
Chromosome15
Chromosomal Location37967328-38078854 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37984036 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 2289 (F2289Y)
Ref Sequence ENSEMBL: ENSMUSP00000105965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110336] [ENSMUST00000226414] [ENSMUST00000228333]
Predicted Effect probably damaging
Transcript: ENSMUST00000110336
AA Change: F2289Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: F2289Y

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: F2295Y

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228292
Predicted Effect probably benign
Transcript: ENSMUST00000228333
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3052764
Lethality: E11-E12
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,987 probably benign Het
A430033K04Rik T C 5: 138,647,592 S580P probably damaging Het
Abca12 T A 1: 71,303,541 I927F possibly damaging Het
Abca8a A G 11: 110,050,939 V1168A possibly damaging Het
Abcc1 T A 16: 14,460,983 N1052K probably benign Het
Adamts13 C A 2: 27,005,361 Q1155K probably benign Het
Adgre4 A T 17: 55,791,915 probably benign Het
AF529169 C T 9: 89,601,800 V515I probably benign Het
Ahsa2 T C 11: 23,496,837 E42G probably damaging Het
Ankk1 T G 9: 49,421,900 I95L probably benign Het
Anpep A T 7: 79,841,986 L89Q probably damaging Het
Arl5a T C 2: 52,416,071 N83S probably benign Het
Atp11b A G 3: 35,809,376 probably null Het
Atp6v0a2 T C 5: 124,721,777 F849L probably benign Het
BC106179 A G 16: 23,224,272 probably benign Het
Bcl2a1c T C 9: 114,330,540 *129Q probably null Het
C2cd5 T C 6: 143,017,945 I888V probably null Het
Calb2 A T 8: 110,145,671 L227Q probably damaging Het
Casc4 T C 2: 121,910,793 probably benign Het
Ccp110 G T 7: 118,722,424 C434F possibly damaging Het
Cd209c A T 8: 3,940,339 C160S probably damaging Het
Chmp1a A G 8: 123,209,019 probably null Het
Col6a6 T A 9: 105,758,191 probably null Het
Cyld T A 8: 88,705,457 C28S probably benign Het
Dapk1 A T 13: 60,761,040 I1156F probably benign Het
Dennd1a A T 2: 38,243,442 Y16* probably null Het
Dennd3 T G 15: 73,567,133 S1117A probably benign Het
Dgka A T 10: 128,733,086 D203E probably damaging Het
Dhx15 G T 5: 52,166,775 L392I probably damaging Het
Dnah10 A G 5: 124,746,616 D567G probably benign Het
Eaf1 T A 14: 31,504,526 probably null Het
Efnb2 T C 8: 8,660,589 D9G probably benign Het
Fcrla A T 1: 170,927,498 C15S probably benign Het
Flt3 T C 5: 147,354,876 N588S probably damaging Het
Gm10146 A T 10: 78,393,473 noncoding transcript Het
Gnpat T C 8: 124,876,914 probably benign Het
Gpr39 A C 1: 125,872,731 R406S probably benign Het
H2-Aa T C 17: 34,284,530 H31R probably damaging Het
Helz2 G T 2: 181,229,702 R2706S probably damaging Het
Hip1r T A 5: 123,989,735 probably null Het
Hnf4g A G 3: 3,648,082 T239A probably benign Het
Hps5 A T 7: 46,775,938 I413N probably damaging Het
Hspg2 G A 4: 137,528,820 G1413R probably damaging Het
Itgax T G 7: 128,135,326 M352R probably damaging Het
Katna1 T A 10: 7,762,804 M433K probably damaging Het
Kcna4 T G 2: 107,295,862 S314A probably damaging Het
Kif13b C T 14: 64,669,693 T42I possibly damaging Het
Krt78 G A 15: 101,947,510 T622I probably benign Het
Krt86 T A 15: 101,476,515 M263K possibly damaging Het
Lap3 A G 5: 45,506,169 probably benign Het
Lepr A T 4: 101,815,035 R1085S probably benign Het
Lmcd1 A G 6: 112,329,808 I314V probably benign Het
Luc7l2 T C 6: 38,608,170 probably benign Het
Mcm2 T A 6: 88,893,401 M117L probably benign Het
Mdh2 T C 5: 135,786,284 Y133H probably damaging Het
Mlkl T A 8: 111,319,428 R317* probably null Het
Mrps34 T C 17: 24,895,370 L68P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo18a A G 11: 77,847,938 E1299G probably damaging Het
Nlrp14 T C 7: 107,192,502 L139P possibly damaging Het
Nudcd2 A G 11: 40,736,586 D86G probably damaging Het
Olfr1212 T A 2: 88,958,766 I100N probably damaging Het
Olfr1318 A T 2: 112,156,067 M39L probably benign Het
Olfr819 T A 10: 129,965,804 R293W probably damaging Het
Patj T C 4: 98,465,106 F629L probably damaging Het
Rad23a A G 8: 84,835,895 F280L probably damaging Het
Ralgapa1 C A 12: 55,722,773 G811V probably damaging Het
St18 A G 1: 6,802,572 D177G probably benign Het
Sult1c2 A C 17: 53,833,119 Y159* probably null Het
Surf6 T A 2: 26,893,069 probably null Het
Susd6 T G 12: 80,870,067 probably benign Het
Sypl2 G A 3: 108,226,426 probably benign Het
Vcl T C 14: 20,987,003 I223T probably benign Het
Vmn1r234 C T 17: 21,229,598 T258I possibly damaging Het
Vmn2r58 T A 7: 41,864,430 K263M possibly damaging Het
Vmo1 A T 11: 70,513,598 N192K probably damaging Het
Wrnip1 A G 13: 32,816,329 N440D probably damaging Het
Zc3h4 T C 7: 16,422,234 Y264H unknown Het
Zfp639 T G 3: 32,519,753 probably null Het
Zfp831 T C 2: 174,646,285 Y918H possibly damaging Het
Other mutations in Ubr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00548:Ubr5 APN 15 38004321 missense probably benign 0.11
IGL00675:Ubr5 APN 15 38018284 missense possibly damaging 0.84
IGL00770:Ubr5 APN 15 38006541 missense probably benign 0.27
IGL00774:Ubr5 APN 15 38006541 missense probably benign 0.27
IGL00919:Ubr5 APN 15 38040842 missense probably damaging 1.00
IGL00962:Ubr5 APN 15 37985934 missense probably damaging 1.00
IGL01328:Ubr5 APN 15 37981523 missense possibly damaging 0.82
IGL01359:Ubr5 APN 15 37973006 missense probably damaging 0.96
IGL01394:Ubr5 APN 15 38009631 missense possibly damaging 0.90
IGL01674:Ubr5 APN 15 37998379 missense probably damaging 1.00
IGL01981:Ubr5 APN 15 37996598 missense probably benign 0.08
IGL01993:Ubr5 APN 15 37973012 missense probably damaging 0.99
IGL02159:Ubr5 APN 15 37991379 splice site probably benign
IGL02252:Ubr5 APN 15 38024894 missense probably damaging 1.00
IGL02442:Ubr5 APN 15 38037901 missense possibly damaging 0.95
IGL02502:Ubr5 APN 15 38030689 missense probably benign 0.01
IGL02503:Ubr5 APN 15 38018320 missense possibly damaging 0.90
IGL02503:Ubr5 APN 15 38018314 missense probably damaging 0.99
IGL02546:Ubr5 APN 15 38008747 missense probably benign 0.00
IGL02556:Ubr5 APN 15 38002448 missense probably benign 0.18
IGL02647:Ubr5 APN 15 37992082 missense probably damaging 0.99
IGL02679:Ubr5 APN 15 38002314 missense probably benign 0.36
IGL02726:Ubr5 APN 15 38000562 splice site probably benign
IGL02884:Ubr5 APN 15 37998376 missense probably damaging 1.00
IGL02972:Ubr5 APN 15 38041952 missense probably damaging 1.00
IGL03000:Ubr5 APN 15 38024852 missense probably damaging 0.99
IGL03028:Ubr5 APN 15 38047593 missense probably benign 0.00
IGL03057:Ubr5 APN 15 38040906 splice site probably benign
IGL03085:Ubr5 APN 15 38029568 missense probably damaging 1.00
IGL03198:Ubr5 APN 15 38045720 missense probably damaging 1.00
IGL03368:Ubr5 APN 15 37998316 missense probably damaging 0.96
P0016:Ubr5 UTSW 15 38000578 missense probably damaging 1.00
PIT4142001:Ubr5 UTSW 15 38041909 missense probably damaging 0.98
R0133:Ubr5 UTSW 15 37996571 missense probably damaging 0.98
R0173:Ubr5 UTSW 15 38004675 missense probably damaging 1.00
R0234:Ubr5 UTSW 15 37968493 missense probably damaging 1.00
R0234:Ubr5 UTSW 15 37968493 missense probably damaging 1.00
R0314:Ubr5 UTSW 15 37997187 missense probably damaging 0.99
R0379:Ubr5 UTSW 15 38018957 missense probably benign 0.00
R0390:Ubr5 UTSW 15 38030672 missense probably benign 0.19
R0415:Ubr5 UTSW 15 37972980 missense probably damaging 0.98
R0531:Ubr5 UTSW 15 37991344 missense probably benign 0.34
R0650:Ubr5 UTSW 15 38030807 splice site probably benign
R0720:Ubr5 UTSW 15 37972991 missense probably damaging 0.98
R1183:Ubr5 UTSW 15 37997175 missense possibly damaging 0.71
R1302:Ubr5 UTSW 15 38041479 missense possibly damaging 0.91
R1442:Ubr5 UTSW 15 38014924 splice site probably benign
R1507:Ubr5 UTSW 15 37980870 missense probably damaging 1.00
R1575:Ubr5 UTSW 15 38040841 missense probably damaging 1.00
R1577:Ubr5 UTSW 15 38030730 missense possibly damaging 0.76
R1622:Ubr5 UTSW 15 38009113 unclassified probably benign
R1721:Ubr5 UTSW 15 38041846 missense probably benign 0.18
R1799:Ubr5 UTSW 15 37989377 missense probably damaging 1.00
R1840:Ubr5 UTSW 15 37980917 missense possibly damaging 0.51
R1867:Ubr5 UTSW 15 38041846 missense probably benign 0.18
R1868:Ubr5 UTSW 15 38041846 missense probably benign 0.18
R2065:Ubr5 UTSW 15 38040842 missense probably damaging 1.00
R2107:Ubr5 UTSW 15 37989302 missense probably benign 0.00
R2201:Ubr5 UTSW 15 38002299 missense possibly damaging 0.83
R2261:Ubr5 UTSW 15 37988284 missense probably damaging 0.99
R2441:Ubr5 UTSW 15 37989345 missense probably damaging 0.99
R2512:Ubr5 UTSW 15 38002319 missense probably damaging 1.00
R3008:Ubr5 UTSW 15 38030845 missense probably benign
R3412:Ubr5 UTSW 15 38004235 splice site probably benign
R3898:Ubr5 UTSW 15 37997739 missense probably benign 0.02
R3900:Ubr5 UTSW 15 38019242 missense probably damaging 1.00
R4032:Ubr5 UTSW 15 38024837 missense probably benign 0.22
R4352:Ubr5 UTSW 15 38041573 missense probably benign 0.31
R4362:Ubr5 UTSW 15 38078403 missense probably damaging 0.99
R4467:Ubr5 UTSW 15 38004336 missense probably damaging 1.00
R4507:Ubr5 UTSW 15 38013542 missense probably damaging 0.96
R4683:Ubr5 UTSW 15 38037967 missense probably damaging 1.00
R4771:Ubr5 UTSW 15 38018297 missense possibly damaging 0.50
R4878:Ubr5 UTSW 15 38006564 missense probably benign 0.01
R4999:Ubr5 UTSW 15 38009668 missense probably benign 0.06
R5057:Ubr5 UTSW 15 38004109 missense probably damaging 0.98
R5177:Ubr5 UTSW 15 38006517 missense probably benign 0.22
R5186:Ubr5 UTSW 15 37997916 missense probably damaging 0.99
R5378:Ubr5 UTSW 15 37989578 missense probably damaging 1.00
R5486:Ubr5 UTSW 15 38008739 missense probably benign 0.00
R5494:Ubr5 UTSW 15 38019281 missense possibly damaging 0.78
R5617:Ubr5 UTSW 15 38030657 missense possibly damaging 0.47
R5636:Ubr5 UTSW 15 37983996 missense probably damaging 1.00
R5655:Ubr5 UTSW 15 38015093 missense probably damaging 0.99
R5715:Ubr5 UTSW 15 38002233 missense probably benign 0.06
R5781:Ubr5 UTSW 15 38006541 missense probably benign 0.27
R6645:Ubr5 UTSW 15 38029506 missense probably damaging 1.00
R6774:Ubr5 UTSW 15 38015135 missense probably damaging 1.00
R6823:Ubr5 UTSW 15 37989598 missense probably benign 0.08
R6877:Ubr5 UTSW 15 38002570 missense probably damaging 0.98
R7105:Ubr5 UTSW 15 38008775 missense not run
X0024:Ubr5 UTSW 15 37992060 missense probably damaging 1.00
Posted On2011-07-12