Incidental Mutation 'R1401:Hectd3'
ID 160107
Institutional Source Beutler Lab
Gene Symbol Hectd3
Ensembl Gene ENSMUSG00000046861
Gene Name HECT domain E3 ubiquitin protein ligase 3
Synonyms 1700064K09Rik
MMRRC Submission 039463-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1401 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 116852514-116862474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116859466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 697 (S697P)
Ref Sequence ENSEMBL: ENSMUSP00000051922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050067]
AlphaFold Q3U487
Predicted Effect possibly damaging
Transcript: ENSMUST00000050067
AA Change: S697P

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: S697P

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 0.1930 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 98% (87/89)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abcg1 T A 17: 31,333,132 (GRCm39) I625N possibly damaging Het
Adam33 C A 2: 130,893,391 (GRCm39) probably benign Het
Adgrl2 A T 3: 148,528,617 (GRCm39) I1185N probably damaging Het
Afp A T 5: 90,649,486 (GRCm39) probably benign Het
Aggf1 A G 13: 95,501,356 (GRCm39) V342A probably benign Het
Ankrd11 A T 8: 123,619,789 (GRCm39) S1333R probably benign Het
Arhgef11 C A 3: 87,640,776 (GRCm39) S1311* probably null Het
Atp6v1g1 T C 4: 63,466,878 (GRCm39) Y47H probably benign Het
Atp8b4 T C 2: 126,165,013 (GRCm39) probably null Het
Barx2 A G 9: 31,770,327 (GRCm39) L67P probably damaging Het
Bbs7 G A 3: 36,627,706 (GRCm39) P694S probably benign Het
Btbd10 A T 7: 112,946,266 (GRCm39) V33E probably benign Het
C2 T C 17: 35,091,457 (GRCm39) T69A possibly damaging Het
C8b T G 4: 104,641,679 (GRCm39) L205R possibly damaging Het
Cct4 T G 11: 22,944,333 (GRCm39) N72K probably damaging Het
Cd300lg C A 11: 101,944,981 (GRCm39) P353H possibly damaging Het
Cdh20 A T 1: 104,875,222 (GRCm39) I335L possibly damaging Het
Cfhr2 T A 1: 139,738,757 (GRCm39) H268L probably benign Het
Chia1 T A 3: 106,036,255 (GRCm39) D278E probably benign Het
Cntn6 A G 6: 104,781,359 (GRCm39) T482A possibly damaging Het
Cst13 T A 2: 148,665,016 (GRCm39) F4I probably benign Het
Ctsc T A 7: 87,930,706 (GRCm39) V95E probably damaging Het
Ddhd1 A T 14: 45,842,508 (GRCm39) probably null Het
Dmxl2 A T 9: 54,322,712 (GRCm39) probably null Het
Dnah5 A C 15: 28,402,059 (GRCm39) T3407P probably damaging Het
Dock1 T A 7: 134,735,665 (GRCm39) Y1344* probably null Het
Eif4g3 T C 4: 137,933,395 (GRCm39) V1740A probably damaging Het
Epb41l5 A G 1: 119,506,634 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Gm10033 T C 8: 69,826,022 (GRCm39) noncoding transcript Het
Gm12790 A G 4: 101,825,396 (GRCm39) L6P probably benign Het
Gramd4 A G 15: 86,009,397 (GRCm39) D210G probably damaging Het
Hsf4 T C 8: 106,002,235 (GRCm39) V399A probably benign Het
Hyal6 T A 6: 24,743,434 (GRCm39) C377S probably damaging Het
Myb C T 10: 21,028,844 (GRCm39) V85M probably damaging Het
Mypn A G 10: 62,988,636 (GRCm39) V463A probably damaging Het
Nav1 T A 1: 135,388,163 (GRCm39) I1144L probably benign Het
Nckap5 A G 1: 125,942,398 (GRCm39) probably benign Het
Nipbl A T 15: 8,401,657 (GRCm39) S30T probably damaging Het
Nmt1 T C 11: 102,948,307 (GRCm39) F277S probably damaging Het
Nploc4 A C 11: 120,274,115 (GRCm39) probably benign Het
Nup54 C A 5: 92,576,080 (GRCm39) R137I probably damaging Het
Or52n2b T C 7: 104,565,963 (GRCm39) Y180C probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pkd1l1 G T 11: 8,804,487 (GRCm39) Y1701* probably null Het
Plekhg6 T C 6: 125,340,072 (GRCm39) T763A probably damaging Het
Pmepa1 C T 2: 173,070,368 (GRCm39) probably null Het
Ppfia2 A G 10: 106,666,518 (GRCm39) E408G possibly damaging Het
Pramel13 G A 4: 144,121,658 (GRCm39) T122M probably benign Het
Prl8a2 G A 13: 27,537,979 (GRCm39) V218I possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Shisal2b A T 13: 105,000,113 (GRCm39) C37S probably damaging Het
Slc13a1 A T 6: 24,118,082 (GRCm39) probably null Het
Slc17a8 T A 10: 89,427,076 (GRCm39) T342S probably damaging Het
Slc30a9 A G 5: 67,510,005 (GRCm39) E519G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc39a5 G A 10: 128,233,610 (GRCm39) L296F probably damaging Het
Slco6b1 A C 1: 96,857,610 (GRCm39) noncoding transcript Het
Slco6d1 G A 1: 98,418,341 (GRCm39) G509D probably damaging Het
Spen A G 4: 141,199,132 (GRCm39) V3142A probably damaging Het
Spta1 T A 1: 174,050,250 (GRCm39) H1763Q probably damaging Het
Srcap T C 7: 127,159,124 (GRCm39) probably benign Het
Stard9 T C 2: 120,543,328 (GRCm39) probably benign Het
Stat4 A G 1: 52,111,106 (GRCm39) probably benign Het
Svbp T A 4: 119,053,225 (GRCm39) probably benign Het
Tm2d1 A T 4: 98,258,833 (GRCm39) probably benign Het
Trpv1 C A 11: 73,130,952 (GRCm39) probably null Het
Trrap A G 5: 144,794,232 (GRCm39) D3713G possibly damaging Het
Ubr1 T A 2: 120,786,125 (GRCm39) D165V probably benign Het
Utrn C A 10: 12,524,897 (GRCm39) M2195I probably benign Het
Vmn1r229 G A 17: 21,034,904 (GRCm39) V50I possibly damaging Het
Vmn1r44 A T 6: 89,870,632 (GRCm39) H126L probably benign Het
Vmn2r116 T C 17: 23,605,570 (GRCm39) probably benign Het
Vmn2r27 A C 6: 124,168,591 (GRCm39) Y846* probably null Het
Vmn2r84 T A 10: 130,227,859 (GRCm39) S126C possibly damaging Het
Xylb T A 9: 119,197,133 (GRCm39) probably benign Het
Zfp282 A T 6: 47,867,108 (GRCm39) K232* probably null Het
Zfp39 C A 11: 58,781,149 (GRCm39) V538L probably benign Het
Zfp560 T C 9: 20,263,149 (GRCm39) N76D possibly damaging Het
Zmym4 C T 4: 126,804,962 (GRCm39) V433I probably benign Het
Zscan5b A G 7: 6,233,425 (GRCm39) E83G probably damaging Het
Other mutations in Hectd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Hectd3 APN 4 116,857,786 (GRCm39) splice site probably benign
IGL00227:Hectd3 APN 4 116,857,785 (GRCm39) splice site probably benign
IGL00227:Hectd3 APN 4 116,857,784 (GRCm39) splice site probably benign
IGL00987:Hectd3 APN 4 116,856,840 (GRCm39) missense probably damaging 0.98
IGL01402:Hectd3 APN 4 116,853,262 (GRCm39) missense probably damaging 0.96
IGL01660:Hectd3 APN 4 116,853,569 (GRCm39) missense possibly damaging 0.91
IGL02397:Hectd3 APN 4 116,860,333 (GRCm39) missense possibly damaging 0.94
IGL03029:Hectd3 APN 4 116,854,162 (GRCm39) nonsense probably null
chopstix2 UTSW 4 116,853,593 (GRCm39) missense probably benign 0.08
R0147:Hectd3 UTSW 4 116,854,237 (GRCm39) unclassified probably benign
R0240:Hectd3 UTSW 4 116,859,810 (GRCm39) missense probably damaging 0.97
R0240:Hectd3 UTSW 4 116,859,810 (GRCm39) missense probably damaging 0.97
R0611:Hectd3 UTSW 4 116,853,241 (GRCm39) missense possibly damaging 0.67
R1367:Hectd3 UTSW 4 116,854,367 (GRCm39) missense probably null 0.48
R1444:Hectd3 UTSW 4 116,853,593 (GRCm39) missense probably benign 0.08
R1466:Hectd3 UTSW 4 116,853,763 (GRCm39) missense probably damaging 0.98
R1466:Hectd3 UTSW 4 116,853,763 (GRCm39) missense probably damaging 0.98
R1517:Hectd3 UTSW 4 116,860,191 (GRCm39) missense probably damaging 0.96
R1584:Hectd3 UTSW 4 116,853,763 (GRCm39) missense probably damaging 0.98
R1593:Hectd3 UTSW 4 116,854,217 (GRCm39) missense possibly damaging 0.86
R1628:Hectd3 UTSW 4 116,854,589 (GRCm39) missense probably damaging 1.00
R1669:Hectd3 UTSW 4 116,856,840 (GRCm39) missense probably damaging 0.98
R1731:Hectd3 UTSW 4 116,853,652 (GRCm39) critical splice donor site probably null
R1918:Hectd3 UTSW 4 116,857,540 (GRCm39) missense possibly damaging 0.68
R2029:Hectd3 UTSW 4 116,857,882 (GRCm39) missense probably damaging 0.99
R2174:Hectd3 UTSW 4 116,856,898 (GRCm39) missense probably benign 0.04
R2184:Hectd3 UTSW 4 116,858,100 (GRCm39) missense possibly damaging 0.93
R2226:Hectd3 UTSW 4 116,852,886 (GRCm39) missense possibly damaging 0.67
R3721:Hectd3 UTSW 4 116,856,942 (GRCm39) missense probably benign 0.08
R3895:Hectd3 UTSW 4 116,853,286 (GRCm39) missense probably damaging 1.00
R3937:Hectd3 UTSW 4 116,855,727 (GRCm39) missense probably benign 0.28
R4291:Hectd3 UTSW 4 116,852,889 (GRCm39) missense probably damaging 1.00
R4729:Hectd3 UTSW 4 116,854,415 (GRCm39) missense probably damaging 0.98
R4837:Hectd3 UTSW 4 116,859,794 (GRCm39) missense probably null 0.32
R5059:Hectd3 UTSW 4 116,854,361 (GRCm39) missense possibly damaging 0.93
R5090:Hectd3 UTSW 4 116,857,435 (GRCm39) splice site probably benign
R5910:Hectd3 UTSW 4 116,859,331 (GRCm39) missense probably benign 0.09
R5932:Hectd3 UTSW 4 116,859,470 (GRCm39) missense possibly damaging 0.79
R6182:Hectd3 UTSW 4 116,857,476 (GRCm39) missense probably damaging 1.00
R6292:Hectd3 UTSW 4 116,856,005 (GRCm39) missense probably damaging 1.00
R6405:Hectd3 UTSW 4 116,857,821 (GRCm39) missense probably benign 0.04
R6478:Hectd3 UTSW 4 116,856,783 (GRCm39) missense probably damaging 1.00
R7444:Hectd3 UTSW 4 116,854,124 (GRCm39) missense possibly damaging 0.48
R7471:Hectd3 UTSW 4 116,853,785 (GRCm39) missense probably benign 0.01
R8053:Hectd3 UTSW 4 116,858,055 (GRCm39) missense possibly damaging 0.65
R8671:Hectd3 UTSW 4 116,853,778 (GRCm39) missense possibly damaging 0.67
R8840:Hectd3 UTSW 4 116,855,604 (GRCm39) missense probably benign 0.14
R9520:Hectd3 UTSW 4 116,857,882 (GRCm39) missense probably damaging 0.99
R9746:Hectd3 UTSW 4 116,852,951 (GRCm39) missense probably damaging 1.00
Z1177:Hectd3 UTSW 4 116,855,957 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGTGAAGCTCCTGGAAGTGATG -3'
(R):5'- TGGTGAAATTGTTCAGAGCCTCCC -3'

Sequencing Primer
(F):5'- CTCCTGGAAGTGATGGAAGG -3'
(R):5'- TAGAACTCACTGAGCTTGCG -3'
Posted On 2014-03-14