Incidental Mutation 'IGL03029:Hectd3'
ID408320
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 #IGL03029
Quality Score
Status
Chromosome4
Chromosomal Location116995317-117005277 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 116996965 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 271 (E271*)
Ref Sequence ENSEMBL: ENSMUSP00000051922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030446] [ENSMUST00000050067] [ENSMUST00000130273]
Predicted Effect probably benign
Transcript: ENSMUST00000030446
SMART Domains Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684

DomainStartEndE-ValueType
Pfam:URO-D 14 360 2.4e-135 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000050067
AA Change: E271*
SMART Domains Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: E271*

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: ENSMUST00000123079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127635
Predicted Effect probably benign
Transcript: ENSMUST00000130273
SMART Domains Protein: ENSMUSP00000116154
Gene: ENSMUSG00000028684

DomainStartEndE-ValueType
Pfam:URO-D 1 64 1.2e-18 PFAM
Pfam:URO-D 60 120 4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155267
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 T A 9: 106,435,115 D213V probably damaging Het
Akap6 T C 12: 52,886,412 L229P probably damaging Het
Ankrd10 A T 8: 11,619,304 probably null Het
Arfgap3 C T 15: 83,322,650 E246K probably damaging Het
Cadps G T 14: 12,376,675 T1274K probably damaging Het
Cd46 T C 1: 195,086,143 T89A probably benign Het
Cylc1 A C X: 111,113,338 probably benign Het
Dach2 T A X: 113,815,136 L492* probably null Het
Dlc1 T C 8: 36,571,262 probably null Het
Fam71e2 G T 7: 4,757,840 N624K possibly damaging Het
Fanci T C 7: 79,443,999 V1033A probably benign Het
Fat4 T C 3: 38,982,591 I3464T possibly damaging Het
Fus A G 7: 127,985,540 probably benign Het
Herc2 T C 7: 56,168,967 L2802P probably damaging Het
Hk2 G A 6: 82,738,333 R407C probably damaging Het
Josd2 T C 7: 44,471,177 S71P probably damaging Het
Kdelc2 T C 9: 53,384,288 probably null Het
Kif20b A G 19: 34,950,913 T1152A probably benign Het
Myo15b G A 11: 115,871,643 V1229I probably benign Het
Nup188 T C 2: 30,322,580 probably benign Het
Olfr1357 T A 10: 78,611,958 I228F probably benign Het
Pank1 T A 19: 34,821,135 I476F probably damaging Het
Pdcd6 A G 13: 74,309,780 Y91H probably damaging Het
Pik3r3 T G 4: 116,299,801 V393G probably damaging Het
Prx C T 7: 27,508,061 R48* probably null Het
Rbm5 A G 9: 107,754,453 S222P possibly damaging Het
Rev3l T A 10: 39,828,486 I302N probably benign Het
Rnf139 T C 15: 58,899,118 F331L probably damaging Het
Shisa4 G T 1: 135,373,176 Q119K probably damaging Het
Shisa6 T A 11: 66,218,013 E346V probably damaging Het
Slc6a3 A T 13: 73,538,697 E61V probably damaging Het
Slc9a7 T A X: 20,291,369 M106L probably benign Het
Srek1 A G 13: 103,763,960 probably benign Het
Strc G A 2: 121,364,044 L1788F possibly damaging Het
Styk1 T C 6: 131,300,560 S284G probably benign Het
Top2a T A 11: 99,018,799 T158S probably benign Het
Vangl1 C T 3: 102,184,084 V229M probably damaging Het
Vsig1 A G X: 140,926,512 T137A possibly 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
IGL00987:Hectd3 APN 4 116999643 missense probably damaging 0.98
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
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 On2016-08-02