Incidental Mutation 'IGL02397:Hectd3'
ID 291717
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
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02397
Quality Score
Status
Chromosome 4
Chromosomal Location 116995317-117005277 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 117003136 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 816 (A816D)
Ref Sequence ENSEMBL: ENSMUSP00000051922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050067]
AlphaFold Q3U487
Predicted Effect possibly damaging
Transcript: ENSMUST00000050067
AA Change: A816D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: A816D

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,646,875 (GRCm38) N400S probably benign Het
Adam12 T A 7: 133,909,819 (GRCm38) probably benign Het
Adam5 T C 8: 24,744,133 (GRCm38) probably benign Het
Amn A T 12: 111,274,479 (GRCm38) Y139F possibly damaging Het
Ano10 C A 9: 122,261,392 (GRCm38) R285L probably damaging Het
Atad2b A G 12: 4,974,046 (GRCm38) Y57C probably damaging Het
Brd8 T C 18: 34,604,873 (GRCm38) K786R probably damaging Het
Cacna2d1 T C 5: 16,320,164 (GRCm38) probably benign Het
Card9 C T 2: 26,352,329 (GRCm38) D532N probably damaging Het
Cd22 T C 7: 30,877,625 (GRCm38) T86A probably benign Het
Cebpz A T 17: 78,923,261 (GRCm38) D842E possibly damaging Het
Csgalnact1 C A 8: 68,401,492 (GRCm38) G219V probably damaging Het
Cspp1 A G 1: 10,108,465 (GRCm38) N713S possibly damaging Het
Eml5 T C 12: 98,790,674 (GRCm38) T1899A probably benign Het
Fpgs T C 2: 32,685,789 (GRCm38) T381A probably damaging Het
Frmd7 G A X: 50,895,898 (GRCm38) T465I possibly damaging Het
Gm9837 A T 11: 53,470,160 (GRCm38) probably benign Het
Itpripl2 A G 7: 118,490,296 (GRCm38) W347R probably damaging Het
Kcnc3 A G 7: 44,595,794 (GRCm38) T503A probably damaging Het
Mmadhc T C 2: 50,288,980 (GRCm38) E142G possibly damaging Het
Nabp2 T A 10: 128,408,323 (GRCm38) N138I possibly damaging Het
Obscn A G 11: 59,076,899 (GRCm38) V2902A possibly damaging Het
Rbm8a2 T C 1: 175,978,638 (GRCm38) D91G probably damaging Het
Samd3 A T 10: 26,233,576 (GRCm38) Y134F possibly damaging Het
Slc11a2 A G 15: 100,401,649 (GRCm38) F58S probably damaging Het
Slitrk4 T C X: 64,272,684 (GRCm38) T126A probably damaging Het
Sspo C A 6: 48,461,638 (GRCm38) P1547T probably benign Het
Tecta T C 9: 42,394,998 (GRCm38) S45G probably damaging Het
Tenm3 T C 8: 48,236,694 (GRCm38) T1937A possibly damaging Het
Tmem214 G A 5: 30,872,746 (GRCm38) A296T probably benign Het
Trmt1l T A 1: 151,439,531 (GRCm38) I156N probably damaging Het
Vmn1r71 C T 7: 10,748,272 (GRCm38) R163Q probably benign Het
Ythdf2 C T 4: 132,211,446 (GRCm38) G13D probably damaging Het
Zbtb7c A T 18: 76,136,976 (GRCm38) Y45F possibly damaging Het
Zfc3h1 G A 10: 115,407,985 (GRCm38) M740I probably damaging Het
Other mutations in Hectd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Hectd3 APN 4 117,000,589 (GRCm38) splice site probably benign
IGL00227:Hectd3 APN 4 117,000,588 (GRCm38) splice site probably benign
IGL00227:Hectd3 APN 4 117,000,587 (GRCm38) splice site probably benign
IGL00987:Hectd3 APN 4 116,999,643 (GRCm38) missense probably damaging 0.98
IGL01402:Hectd3 APN 4 116,996,065 (GRCm38) missense probably damaging 0.96
IGL01660:Hectd3 APN 4 116,996,372 (GRCm38) missense possibly damaging 0.91
IGL03029:Hectd3 APN 4 116,996,965 (GRCm38) nonsense probably null
chopstix2 UTSW 4 116,996,396 (GRCm38) missense probably benign 0.08
R0147:Hectd3 UTSW 4 116,997,040 (GRCm38) unclassified probably benign
R0240:Hectd3 UTSW 4 117,002,613 (GRCm38) missense probably damaging 0.97
R0240:Hectd3 UTSW 4 117,002,613 (GRCm38) missense probably damaging 0.97
R0611:Hectd3 UTSW 4 116,996,044 (GRCm38) missense possibly damaging 0.67
R1367:Hectd3 UTSW 4 116,997,170 (GRCm38) missense probably null 0.48
R1401:Hectd3 UTSW 4 117,002,269 (GRCm38) missense possibly damaging 0.52
R1444:Hectd3 UTSW 4 116,996,396 (GRCm38) missense probably benign 0.08
R1466:Hectd3 UTSW 4 116,996,566 (GRCm38) missense probably damaging 0.98
R1466:Hectd3 UTSW 4 116,996,566 (GRCm38) missense probably damaging 0.98
R1517:Hectd3 UTSW 4 117,002,994 (GRCm38) missense probably damaging 0.96
R1584:Hectd3 UTSW 4 116,996,566 (GRCm38) missense probably damaging 0.98
R1593:Hectd3 UTSW 4 116,997,020 (GRCm38) missense possibly damaging 0.86
R1628:Hectd3 UTSW 4 116,997,392 (GRCm38) missense probably damaging 1.00
R1669:Hectd3 UTSW 4 116,999,643 (GRCm38) missense probably damaging 0.98
R1731:Hectd3 UTSW 4 116,996,455 (GRCm38) critical splice donor site probably null
R1918:Hectd3 UTSW 4 117,000,343 (GRCm38) missense possibly damaging 0.68
R2029:Hectd3 UTSW 4 117,000,685 (GRCm38) missense probably damaging 0.99
R2174:Hectd3 UTSW 4 116,999,701 (GRCm38) missense probably benign 0.04
R2184:Hectd3 UTSW 4 117,000,903 (GRCm38) missense possibly damaging 0.93
R2226:Hectd3 UTSW 4 116,995,689 (GRCm38) missense possibly damaging 0.67
R3721:Hectd3 UTSW 4 116,999,745 (GRCm38) missense probably benign 0.08
R3895:Hectd3 UTSW 4 116,996,089 (GRCm38) missense probably damaging 1.00
R3937:Hectd3 UTSW 4 116,998,530 (GRCm38) missense probably benign 0.28
R4291:Hectd3 UTSW 4 116,995,692 (GRCm38) missense probably damaging 1.00
R4729:Hectd3 UTSW 4 116,997,218 (GRCm38) missense probably damaging 0.98
R4837:Hectd3 UTSW 4 117,002,597 (GRCm38) missense probably null 0.32
R5059:Hectd3 UTSW 4 116,997,164 (GRCm38) missense possibly damaging 0.93
R5090:Hectd3 UTSW 4 117,000,238 (GRCm38) splice site probably benign
R5910:Hectd3 UTSW 4 117,002,134 (GRCm38) missense probably benign 0.09
R5932:Hectd3 UTSW 4 117,002,273 (GRCm38) missense possibly damaging 0.79
R6182:Hectd3 UTSW 4 117,000,279 (GRCm38) missense probably damaging 1.00
R6292:Hectd3 UTSW 4 116,998,808 (GRCm38) missense probably damaging 1.00
R6405:Hectd3 UTSW 4 117,000,624 (GRCm38) missense probably benign 0.04
R6478:Hectd3 UTSW 4 116,999,586 (GRCm38) missense probably damaging 1.00
R7444:Hectd3 UTSW 4 116,996,927 (GRCm38) missense possibly damaging 0.48
R7471:Hectd3 UTSW 4 116,996,588 (GRCm38) missense probably benign 0.01
R8053:Hectd3 UTSW 4 117,000,858 (GRCm38) missense possibly damaging 0.65
R8671:Hectd3 UTSW 4 116,996,581 (GRCm38) missense possibly damaging 0.67
R8840:Hectd3 UTSW 4 116,998,407 (GRCm38) missense probably benign 0.14
R9520:Hectd3 UTSW 4 117,000,685 (GRCm38) missense probably damaging 0.99
R9746:Hectd3 UTSW 4 116,995,754 (GRCm38) missense probably damaging 1.00
Z1177:Hectd3 UTSW 4 116,998,760 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16