Incidental Mutation 'IGL00227:Hectd3'
ID 306792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hectd3
Ensembl Gene ENSMUSG00000046861
Gene Name HECT domain E3 ubiquitin protein ligase 3
Synonyms 1700064K09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00227
Quality Score
Status
Chromosome 4
Chromosomal Location 116995317-117005277 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 117000588 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000051922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050067]
AlphaFold Q3U487
Predicted Effect probably benign
Transcript: ENSMUST00000050067
SMART Domains Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C A 17: 84,688,529 probably null Het
Alms1 A G 6: 85,677,964 E2695G probably damaging Het
B3galnt2 A G 13: 13,987,431 N246D probably benign Het
Ces1h A T 8: 93,352,470 M495K unknown Het
Chga A G 12: 102,562,799 E345G probably damaging Het
Chrnb3 T C 8: 27,385,101 F43L probably benign Het
Ctu1 C A 7: 43,675,504 F122L possibly damaging Het
Cwf19l2 C A 9: 3,409,990 Q40K probably benign Het
Dlg2 T C 7: 91,965,645 I264T probably damaging Het
Dnah1 C T 14: 31,286,896 V1974M probably damaging Het
Foxf2 C A 13: 31,626,189 P37Q unknown Het
Gtf2e2 T C 8: 33,776,445 probably benign Het
Ift122 A T 6: 115,917,057 H901L probably benign Het
Itih1 C T 14: 30,942,889 probably null Het
Krt84 C A 15: 101,527,773 M460I probably benign Het
Moxd1 C T 10: 24,282,593 H382Y probably damaging Het
Npy6r A T 18: 44,276,444 T311S probably damaging Het
Olfr59 C T 11: 74,289,126 T160I probably damaging Het
Olfr665 C T 7: 104,881,517 T270I probably benign Het
Pbk T C 14: 65,813,891 I126T probably damaging Het
Pde1b C T 15: 103,526,680 S400F probably damaging Het
Plxna2 T A 1: 194,644,657 C300S probably damaging Het
Pnpla6 C T 8: 3,523,808 R419W probably damaging Het
Ppp4r3a A G 12: 101,049,794 L33P probably damaging Het
Ralb T A 1: 119,476,040 D119V probably benign Het
Relb A C 7: 19,622,924 probably null Het
Rims1 T A 1: 22,468,242 D609V probably damaging Het
Scnn1a A G 6: 125,338,379 T377A probably benign Het
Slc13a2 T C 11: 78,400,548 T367A probably damaging Het
Sort1 T C 3: 108,356,307 L807P probably damaging Het
Sptbn1 C A 11: 30,110,818 E2051* probably null Het
St6galnac1 T C 11: 116,767,706 I311V probably damaging Het
Other mutations in Hectd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7444:Hectd3 UTSW 4 116996927 missense possibly damaging 0.48
R7471:Hectd3 UTSW 4 116996588 missense probably benign 0.01
R8053:Hectd3 UTSW 4 117000858 missense possibly damaging 0.65
R8671:Hectd3 UTSW 4 116996581 missense possibly damaging 0.67
R8840:Hectd3 UTSW 4 116998407 missense probably benign 0.14
Z1177:Hectd3 UTSW 4 116998760 missense probably damaging 1.00
Posted On 2015-04-16