Incidental Mutation 'IGL00987:Hectd3'
ID27359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hectd3
Ensembl Gene ENSMUSG00000046861
Gene NameHECT domain E3 ubiquitin protein ligase 3
Synonyms1700064K09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00987
Quality Score
Status
Chromosome4
Chromosomal Location116995317-117005277 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116999643 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 462 (D462E)
Ref Sequence ENSEMBL: ENSMUSP00000051922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050067]
Predicted Effect probably damaging
Transcript: ENSMUST00000050067
AA Change: D462E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: D462E

DomainStartEndE-ValueType
low complexity region 26 41 N/A INTRINSIC
low complexity region 68 81 N/A INTRINSIC
APC10 237 391 6.75e-23 SMART
HECTc 514 857 1.27e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155267
Meta Mutation Damage Score 0.0312 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 T C X: 155,295,181 I241T probably benign Het
Atp5g3 T A 2: 73,909,926 R19* probably null Het
Celf4 T C 18: 25,486,950 D420G probably damaging Het
Cideb C A 14: 55,754,560 R179L possibly damaging Het
Cmtr1 G A 17: 29,697,169 R591H probably benign Het
Dync1li2 A T 8: 104,442,498 S34T possibly damaging Het
Eri2 A G 7: 119,791,166 Y80H probably damaging Het
Eya2 A G 2: 165,754,481 E304G probably damaging Het
Fam135a A C 1: 24,055,898 L130V probably damaging Het
Fancb A T X: 164,991,598 K410N probably damaging Het
Gabpb2 A C 3: 95,200,191 V191G probably damaging Het
Gfm1 A G 3: 67,438,560 H197R possibly damaging Het
Gm11595 A G 11: 99,772,539 V105A unknown Het
Herc1 G T 9: 66,408,052 V1139L probably benign Het
Itgal T C 7: 127,302,011 F190L probably damaging Het
Krt87 G A 15: 101,438,446 H109Y probably benign Het
Lmf2 T C 15: 89,354,568 Y115C probably benign Het
Papolg T A 11: 23,876,377 Y259F possibly damaging Het
Parn T C 16: 13,667,603 I10V probably benign Het
Pdcd11 T A 19: 47,114,550 probably benign Het
Phldb2 T A 16: 45,763,102 Q1003L possibly damaging Het
Pigg T A 5: 108,342,078 F850I probably damaging Het
Pkp4 T C 2: 59,308,357 L317P probably damaging Het
Polr2a T C 11: 69,743,794 probably benign Het
Prdm16 G A 4: 154,341,969 T453M possibly damaging Het
Rnf144b A T 13: 47,207,493 E36D possibly damaging Het
Ryr2 G A 13: 11,735,502 T1961I probably damaging Het
Sash1 T A 10: 8,751,413 K305I probably damaging Het
Tbc1d7 A T 13: 43,159,321 I32N probably damaging Het
Thop1 T C 10: 81,081,695 F623L probably damaging Het
Thsd7b G A 1: 129,613,279 G297R probably damaging Het
Tln1 C A 4: 43,551,297 probably benign Het
Vmn1r183 A G 7: 24,055,224 N151D probably damaging Het
Other mutations in Hectd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Hectd3 APN 4 117000588 splice site probably benign
IGL00227:Hectd3 APN 4 117000587 splice site probably benign
IGL00227:Hectd3 APN 4 117000589 splice site probably benign
IGL01402:Hectd3 APN 4 116996065 missense probably damaging 0.96
IGL01660:Hectd3 APN 4 116996372 missense possibly damaging 0.91
IGL02397:Hectd3 APN 4 117003136 missense possibly damaging 0.94
IGL03029:Hectd3 APN 4 116996965 nonsense probably null
chopstix2 UTSW 4 116996396 missense probably benign 0.08
R0147:Hectd3 UTSW 4 116997040 unclassified probably benign
R0240:Hectd3 UTSW 4 117002613 missense probably damaging 0.97
R0240:Hectd3 UTSW 4 117002613 missense probably damaging 0.97
R0611:Hectd3 UTSW 4 116996044 missense possibly damaging 0.67
R1367:Hectd3 UTSW 4 116997170 missense probably null 0.48
R1401:Hectd3 UTSW 4 117002269 missense possibly damaging 0.52
R1444:Hectd3 UTSW 4 116996396 missense probably benign 0.08
R1466:Hectd3 UTSW 4 116996566 missense probably damaging 0.98
R1466:Hectd3 UTSW 4 116996566 missense probably damaging 0.98
R1517:Hectd3 UTSW 4 117002994 missense probably damaging 0.96
R1584:Hectd3 UTSW 4 116996566 missense probably damaging 0.98
R1593:Hectd3 UTSW 4 116997020 missense possibly damaging 0.86
R1628:Hectd3 UTSW 4 116997392 missense probably damaging 1.00
R1669:Hectd3 UTSW 4 116999643 missense probably damaging 0.98
R1731:Hectd3 UTSW 4 116996455 critical splice donor site probably null
R1918:Hectd3 UTSW 4 117000343 missense possibly damaging 0.68
R2029:Hectd3 UTSW 4 117000685 missense probably damaging 0.99
R2174:Hectd3 UTSW 4 116999701 missense probably benign 0.04
R2184:Hectd3 UTSW 4 117000903 missense possibly damaging 0.93
R2226:Hectd3 UTSW 4 116995689 missense possibly damaging 0.67
R3721:Hectd3 UTSW 4 116999745 missense probably benign 0.08
R3895:Hectd3 UTSW 4 116996089 missense probably damaging 1.00
R3937:Hectd3 UTSW 4 116998530 missense probably benign 0.28
R4291:Hectd3 UTSW 4 116995692 missense probably damaging 1.00
R4729:Hectd3 UTSW 4 116997218 missense probably damaging 0.98
R4837:Hectd3 UTSW 4 117002597 missense probably null 0.32
R5059:Hectd3 UTSW 4 116997164 missense possibly damaging 0.93
R5090:Hectd3 UTSW 4 117000238 splice site probably benign
R5910:Hectd3 UTSW 4 117002134 missense probably benign 0.09
R5932:Hectd3 UTSW 4 117002273 missense possibly damaging 0.79
R6182:Hectd3 UTSW 4 117000279 missense probably damaging 1.00
R6292:Hectd3 UTSW 4 116998808 missense probably damaging 1.00
R6405:Hectd3 UTSW 4 117000624 missense probably benign 0.04
R6478:Hectd3 UTSW 4 116999586 missense probably damaging 1.00
Posted On2013-04-17