Incidental Mutation 'R7148:Ube3b'
ID 553933
Institutional Source Beutler Lab
Gene Symbol Ube3b
Ensembl Gene ENSMUSG00000029577
Gene Name ubiquitin protein ligase E3B
Synonyms
MMRRC Submission 045225-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7148 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 114518668-114559230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 114544313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 570 (N570T)
Ref Sequence ENSEMBL: ENSMUSP00000073652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074002] [ENSMUST00000130169]
AlphaFold Q9ES34
Predicted Effect probably damaging
Transcript: ENSMUST00000074002
AA Change: N570T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: N570T

DomainStartEndE-ValueType
IQ 28 50 1.17e-2 SMART
low complexity region 310 327 N/A INTRINSIC
low complexity region 412 428 N/A INTRINSIC
low complexity region 470 488 N/A INTRINSIC
HECTc 697 1070 2.15e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130169
SMART Domains Protein: ENSMUSP00000138723
Gene: ENSMUSG00000029577

DomainStartEndE-ValueType
IQ 28 50 1.17e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196651
SMART Domains Protein: ENSMUSP00000143455
Gene: ENSMUSG00000029577

DomainStartEndE-ValueType
HECTc 122 495 1.1e-112 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T A 14: 32,110,269 (GRCm39) Y14F probably damaging Het
Acly A G 11: 100,374,608 (GRCm39) V805A possibly damaging Het
Apcdd1 T C 18: 63,084,916 (GRCm39) V371A probably damaging Het
Cacna1g A T 11: 94,356,756 (GRCm39) F127I probably benign Het
Ccdc138 T C 10: 58,374,102 (GRCm39) L374P probably damaging Het
Ces2b A G 8: 105,564,928 (GRCm39) Y504C probably damaging Het
Ces5a C T 8: 94,228,950 (GRCm39) G427S probably damaging Het
Chd1l C T 3: 97,498,632 (GRCm39) V256M probably damaging Het
Col24a1 C T 3: 145,021,060 (GRCm39) T477M probably damaging Het
Dmbt1 T A 7: 130,668,464 (GRCm39) C573* probably null Het
Emcn A T 3: 137,122,855 (GRCm39) Y188F possibly damaging Het
Eva1a T G 6: 82,048,125 (GRCm39) M1R probably null Het
Fam243 T C 16: 92,117,875 (GRCm39) K138E probably benign Het
Fam83h C A 15: 75,877,016 (GRCm39) D194Y probably damaging Het
Flywch1 T C 17: 23,974,649 (GRCm39) K664E probably benign Het
Fzd9 A G 5: 135,278,544 (GRCm39) V447A probably benign Het
Heatr5b T C 17: 79,138,863 (GRCm39) D93G probably damaging Het
Hmcn1 T C 1: 150,562,605 (GRCm39) I2318V probably benign Het
Hyal5 T A 6: 24,876,901 (GRCm39) L258Q probably damaging Het
Itprid1 T C 6: 55,874,671 (GRCm39) I207T probably damaging Het
Kmo T A 1: 175,479,168 (GRCm39) C235S probably damaging Het
Lamc2 G A 1: 153,061,730 (GRCm39) P2S probably benign Het
Lman2 G A 13: 55,500,762 (GRCm39) P146S probably benign Het
Mars2 T C 1: 55,276,673 (GRCm39) I92T probably damaging Het
Msh3 A G 13: 92,491,330 (GRCm39) F27L probably benign Het
Myom2 T C 8: 15,134,577 (GRCm39) V460A possibly damaging Het
Nicn1 T A 9: 108,172,306 (GRCm39) *214R probably null Het
Nsd2 T C 5: 34,042,855 (GRCm39) F1040L possibly damaging Het
Or1ab2 T A 8: 72,864,001 (GRCm39) I197N possibly damaging Het
Osm T A 11: 4,189,936 (GRCm39) I240N probably benign Het
Pard3b T A 1: 62,479,191 (GRCm39) D884E probably benign Het
Pex5 T G 6: 124,382,231 (GRCm39) D150A probably benign Het
Pfkfb4 T C 9: 108,856,676 (GRCm39) V394A probably damaging Het
Pjvk A G 2: 76,488,831 (GRCm39) K334R possibly damaging Het
Pkd1l2 T C 8: 117,807,525 (GRCm39) D171G probably benign Het
Prpf4b T G 13: 35,078,455 (GRCm39) N688K probably benign Het
R3hcc1 T C 14: 69,943,001 (GRCm39) E192G possibly damaging Het
Rad54l2 C A 9: 106,596,318 (GRCm39) G207* probably null Het
Rhobtb3 G T 13: 76,059,006 (GRCm39) T264K probably benign Het
Rpl27 A G 11: 101,333,232 (GRCm39) probably benign Het
Rxfp3 C T 15: 11,036,863 (GRCm39) V170I possibly damaging Het
Samd4 T A 14: 47,254,140 (GRCm39) S201R probably benign Het
Sell A G 1: 163,893,176 (GRCm39) I131V possibly damaging Het
Semp2l2a T A 8: 13,887,996 (GRCm39) I32L probably benign Het
Sirpb1c A T 3: 15,887,223 (GRCm39) Y205* probably null Het
Smc3 A T 19: 53,630,326 (GRCm39) E1111V possibly damaging Het
Sowaha C A 11: 53,370,182 (GRCm39) V185L probably benign Het
Spata4 A C 8: 55,055,585 (GRCm39) I159L probably benign Het
Spring1 A G 5: 118,393,759 (GRCm39) N46D probably benign Het
Tekt2 A G 4: 126,216,174 (GRCm39) I373T probably benign Het
Tle7 G T 8: 110,836,048 (GRCm39) R119I probably benign Het
Tomm20l T C 12: 71,164,313 (GRCm39) V65A probably benign Het
Trabd2b A G 4: 114,266,547 (GRCm39) D187G probably damaging Het
Trrap A G 5: 144,758,613 (GRCm39) I2147V possibly damaging Het
Tsc22d2 T A 3: 58,324,429 (GRCm39) C440* probably null Het
Uevld A G 7: 46,600,724 (GRCm39) I70T probably damaging Het
Usp10 C T 8: 120,663,289 (GRCm39) T37I possibly damaging Het
Vmn2r23 T A 6: 123,689,981 (GRCm39) F286I probably benign Het
Vmn2r62 A G 7: 42,414,640 (GRCm39) V601A probably benign Het
Wdr81 G C 11: 75,336,828 (GRCm39) N401K Het
Ythdc2 G T 18: 44,966,189 (GRCm39) V142F probably benign Het
Zfp346 T C 13: 55,253,263 (GRCm39) F36S possibly damaging Het
Zfp748 C T 13: 67,690,358 (GRCm39) V301M possibly damaging Het
Zim1 T C 7: 6,681,220 (GRCm39) K148E possibly damaging Het
Other mutations in Ube3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ube3b APN 5 114,553,348 (GRCm39) missense possibly damaging 0.93
IGL01154:Ube3b APN 5 114,544,313 (GRCm39) missense probably null 0.86
IGL02632:Ube3b APN 5 114,536,902 (GRCm39) missense probably benign
IGL02850:Ube3b APN 5 114,544,310 (GRCm39) missense probably damaging 1.00
IGL02878:Ube3b APN 5 114,542,778 (GRCm39) splice site probably null
IGL02881:Ube3b APN 5 114,550,945 (GRCm39) missense possibly damaging 0.78
R0003:Ube3b UTSW 5 114,536,912 (GRCm39) missense probably benign 0.17
R0071:Ube3b UTSW 5 114,557,558 (GRCm39) missense probably damaging 1.00
R0071:Ube3b UTSW 5 114,557,558 (GRCm39) missense probably damaging 1.00
R0076:Ube3b UTSW 5 114,546,278 (GRCm39) critical splice donor site probably null
R0076:Ube3b UTSW 5 114,546,278 (GRCm39) critical splice donor site probably null
R0111:Ube3b UTSW 5 114,528,437 (GRCm39) splice site probably benign
R0309:Ube3b UTSW 5 114,557,530 (GRCm39) splice site probably benign
R0718:Ube3b UTSW 5 114,540,616 (GRCm39) nonsense probably null
R1344:Ube3b UTSW 5 114,556,636 (GRCm39) missense probably damaging 1.00
R1350:Ube3b UTSW 5 114,544,198 (GRCm39) splice site probably null
R1418:Ube3b UTSW 5 114,556,636 (GRCm39) missense probably damaging 1.00
R1732:Ube3b UTSW 5 114,525,506 (GRCm39) missense probably benign 0.01
R1764:Ube3b UTSW 5 114,542,678 (GRCm39) missense possibly damaging 0.89
R1975:Ube3b UTSW 5 114,537,926 (GRCm39) missense possibly damaging 0.80
R2014:Ube3b UTSW 5 114,549,210 (GRCm39) missense probably damaging 1.00
R2015:Ube3b UTSW 5 114,549,210 (GRCm39) missense probably damaging 1.00
R2041:Ube3b UTSW 5 114,525,294 (GRCm39) missense probably damaging 0.99
R2074:Ube3b UTSW 5 114,553,316 (GRCm39) missense probably benign 0.14
R2202:Ube3b UTSW 5 114,527,135 (GRCm39) missense probably damaging 1.00
R2205:Ube3b UTSW 5 114,527,135 (GRCm39) missense probably damaging 1.00
R3826:Ube3b UTSW 5 114,538,012 (GRCm39) missense probably damaging 0.99
R3829:Ube3b UTSW 5 114,538,012 (GRCm39) missense probably damaging 0.99
R3830:Ube3b UTSW 5 114,538,012 (GRCm39) missense probably damaging 0.99
R3927:Ube3b UTSW 5 114,553,741 (GRCm39) missense probably benign 0.03
R3974:Ube3b UTSW 5 114,550,491 (GRCm39) missense probably benign 0.05
R4049:Ube3b UTSW 5 114,550,931 (GRCm39) missense probably benign 0.09
R4096:Ube3b UTSW 5 114,531,147 (GRCm39) missense possibly damaging 0.65
R4261:Ube3b UTSW 5 114,536,489 (GRCm39) missense possibly damaging 0.80
R4415:Ube3b UTSW 5 114,550,505 (GRCm39) missense probably damaging 1.00
R4688:Ube3b UTSW 5 114,531,139 (GRCm39) missense probably benign 0.03
R4779:Ube3b UTSW 5 114,542,778 (GRCm39) splice site probably null
R4824:Ube3b UTSW 5 114,553,787 (GRCm39) splice site probably null
R4868:Ube3b UTSW 5 114,536,488 (GRCm39) missense probably benign 0.00
R4953:Ube3b UTSW 5 114,539,471 (GRCm39) missense probably benign 0.01
R5013:Ube3b UTSW 5 114,545,702 (GRCm39) missense probably damaging 1.00
R5057:Ube3b UTSW 5 114,544,318 (GRCm39) missense probably benign 0.01
R5117:Ube3b UTSW 5 114,557,692 (GRCm39) missense probably damaging 0.96
R5131:Ube3b UTSW 5 114,545,607 (GRCm39) missense probably damaging 1.00
R5498:Ube3b UTSW 5 114,556,635 (GRCm39) missense probably damaging 1.00
R5564:Ube3b UTSW 5 114,527,136 (GRCm39) missense probably damaging 1.00
R5572:Ube3b UTSW 5 114,544,240 (GRCm39) missense probably damaging 0.99
R5580:Ube3b UTSW 5 114,553,384 (GRCm39) missense probably benign
R5596:Ube3b UTSW 5 114,544,221 (GRCm39) splice site probably null
R5843:Ube3b UTSW 5 114,550,360 (GRCm39) missense probably damaging 1.00
R5910:Ube3b UTSW 5 114,553,370 (GRCm39) missense possibly damaging 0.63
R6591:Ube3b UTSW 5 114,546,185 (GRCm39) missense probably benign 0.00
R6691:Ube3b UTSW 5 114,546,185 (GRCm39) missense probably benign 0.00
R7334:Ube3b UTSW 5 114,553,742 (GRCm39) missense possibly damaging 0.64
R7438:Ube3b UTSW 5 114,556,687 (GRCm39) missense probably damaging 1.00
R7438:Ube3b UTSW 5 114,553,345 (GRCm39) missense possibly damaging 0.79
R7640:Ube3b UTSW 5 114,553,384 (GRCm39) missense probably benign
R7825:Ube3b UTSW 5 114,539,373 (GRCm39) missense probably damaging 1.00
R7958:Ube3b UTSW 5 114,539,484 (GRCm39) missense probably benign 0.05
R8025:Ube3b UTSW 5 114,546,270 (GRCm39) missense probably damaging 0.99
R8058:Ube3b UTSW 5 114,544,846 (GRCm39) missense possibly damaging 0.58
R8087:Ube3b UTSW 5 114,550,550 (GRCm39) critical splice donor site probably null
R8182:Ube3b UTSW 5 114,530,199 (GRCm39) missense possibly damaging 0.77
R8322:Ube3b UTSW 5 114,540,747 (GRCm39) missense probably benign 0.04
R8465:Ube3b UTSW 5 114,528,451 (GRCm39) missense probably damaging 1.00
R8682:Ube3b UTSW 5 114,550,351 (GRCm39) missense probably damaging 1.00
R8708:Ube3b UTSW 5 114,531,151 (GRCm39) missense probably benign 0.34
R8758:Ube3b UTSW 5 114,553,261 (GRCm39) critical splice acceptor site probably benign
R8784:Ube3b UTSW 5 114,526,800 (GRCm39) missense probably damaging 1.00
R9058:Ube3b UTSW 5 114,553,300 (GRCm39) missense probably benign 0.05
R9072:Ube3b UTSW 5 114,542,607 (GRCm39) missense probably damaging 0.98
R9116:Ube3b UTSW 5 114,542,837 (GRCm39) intron probably benign
R9537:Ube3b UTSW 5 114,525,245 (GRCm39) missense probably damaging 1.00
R9596:Ube3b UTSW 5 114,527,171 (GRCm39) missense probably damaging 1.00
R9632:Ube3b UTSW 5 114,553,370 (GRCm39) missense probably benign 0.00
R9710:Ube3b UTSW 5 114,553,370 (GRCm39) missense probably benign 0.00
X0017:Ube3b UTSW 5 114,553,646 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- CCATACGTTTCGTCTCCAGG -3'
(R):5'- TTTGCAGCCACATCACTACC -3'

Sequencing Primer
(F):5'- GTGTCTAGAAAAGCTAGCATGC -3'
(R):5'- TGCAGCCACATCACTACCTTACG -3'
Posted On 2019-05-15