Incidental Mutation 'R1584:Hectd3'
ID 177320
Institutional Source Beutler Lab
Gene Symbol Hectd3
Ensembl Gene ENSMUSG00000046861
Gene Name HECT domain E3 ubiquitin protein ligase 3
Synonyms 1700064K09Rik
MMRRC Submission 039621-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1584 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 116852514-116862474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116853763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 220 (E220K)
Ref Sequence ENSEMBL: ENSMUSP00000051922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030446] [ENSMUST00000050067] [ENSMUST00000130273]
AlphaFold Q3U487
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 damaging
Transcript: ENSMUST00000050067
AA Change: E220K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: E220K

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: ENSMUST00000134598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135164
Meta Mutation Damage Score 0.1688 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.2%
Validation Efficiency 99% (106/107)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C T 11: 77,406,236 (GRCm39) A71V probably damaging Het
Ager A G 17: 34,819,692 (GRCm39) E357G probably damaging Het
Akap13 T C 7: 75,378,797 (GRCm39) S2095P possibly damaging Het
Ampd2 T C 3: 107,987,653 (GRCm39) probably null Het
Arrdc1 T C 2: 24,815,807 (GRCm39) I398V probably benign Het
Ash1l T C 3: 88,959,372 (GRCm39) Y2250H probably damaging Het
Brca2 G A 5: 150,475,723 (GRCm39) A2478T probably damaging Het
Btrc T A 19: 45,501,821 (GRCm39) probably benign Het
C8g C T 2: 25,390,228 (GRCm39) A6T probably benign Het
Ccdc121rt3 C T 5: 112,502,630 (GRCm39) G358D probably benign Het
Cdc123 T A 2: 5,808,788 (GRCm39) probably null Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Cldn5 G A 16: 18,596,227 (GRCm39) G161D probably damaging Het
Cndp2 G A 18: 84,695,440 (GRCm39) probably benign Het
Cntnap1 C A 11: 101,071,186 (GRCm39) F366L probably damaging Het
Corin C T 5: 72,460,133 (GRCm39) probably null Het
Ctdspl2 G A 2: 121,834,410 (GRCm39) R332K probably benign Het
Dido1 G A 2: 180,304,121 (GRCm39) P1261L probably damaging Het
Dop1a A T 9: 86,430,225 (GRCm39) R2200* probably null Het
Dtx3l G A 16: 35,753,098 (GRCm39) L503F probably damaging Het
Dysf A G 6: 84,044,029 (GRCm39) K259R probably benign Het
Enpep T A 3: 129,113,097 (GRCm39) T203S probably damaging Het
Epha2 T A 4: 141,049,358 (GRCm39) probably null Het
Fam20b T C 1: 156,513,758 (GRCm39) probably benign Het
Fbln7 A G 2: 128,719,349 (GRCm39) T49A probably benign Het
Fgf14 T A 14: 124,913,951 (GRCm39) K60M probably benign Het
Fhad1 T C 4: 141,712,822 (GRCm39) I206V probably benign Het
Figla A G 6: 85,997,764 (GRCm39) E164G probably benign Het
Gimap4 C A 6: 48,668,216 (GRCm39) Q196K probably benign Het
Glcci1 C T 6: 8,537,964 (GRCm39) T6I probably damaging Het
Grk4 T C 5: 34,852,094 (GRCm39) S113P probably benign Het
Hecw1 A G 13: 14,515,328 (GRCm39) probably null Het
Helz2 G A 2: 180,878,090 (GRCm39) P903S probably damaging Het
Hydin T C 8: 111,307,447 (GRCm39) V3942A probably benign Het
Irs1 G T 1: 82,267,165 (GRCm39) H350Q probably benign Het
Kdm1b G A 13: 47,217,530 (GRCm39) E46K probably damaging Het
Klf11 A G 12: 24,705,304 (GRCm39) N253D probably damaging Het
Klhl23 T C 2: 69,664,232 (GRCm39) I527T probably damaging Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lcn4 G A 2: 26,558,588 (GRCm39) P166L probably damaging Het
Letmd1 T A 15: 100,370,423 (GRCm39) probably null Het
Lilra6 T A 7: 3,915,661 (GRCm39) D358V probably damaging Het
Mmrn2 A G 14: 34,097,642 (GRCm39) D24G probably benign Het
Mroh2b G T 15: 4,955,166 (GRCm39) D720Y probably damaging Het
Mrps35 C T 6: 146,957,482 (GRCm39) T169M probably damaging Het
Muc4 G A 16: 32,574,886 (GRCm39) G1157D probably benign Het
Naga T A 15: 82,218,989 (GRCm39) M237L probably null Het
Nfu1 G A 6: 86,997,791 (GRCm39) E225K probably damaging Het
Nin A T 12: 70,089,443 (GRCm39) L1324Q probably benign Het
Oc90 T A 15: 65,769,569 (GRCm39) Y96F probably damaging Het
Or4a80 C T 2: 89,582,611 (GRCm39) C187Y probably damaging Het
Or5b116 T C 19: 13,423,023 (GRCm39) Y216H probably damaging Het
Or5m11b T A 2: 85,806,339 (GRCm39) F251I probably damaging Het
Or6ae1 A G 7: 139,742,116 (GRCm39) V249A probably damaging Het
Or8c9 G A 9: 38,241,427 (GRCm39) M181I possibly damaging Het
Orc4 A T 2: 48,799,506 (GRCm39) C324S possibly damaging Het
Pals1 A G 12: 78,876,501 (GRCm39) I482V probably benign Het
Pdzrn4 T C 15: 92,668,418 (GRCm39) S857P probably benign Het
Plec C T 15: 76,070,108 (GRCm39) E1000K possibly damaging Het
Plvap A T 8: 71,961,125 (GRCm39) V149D probably benign Het
Pm20d2 A T 4: 33,174,772 (GRCm39) N371K probably damaging Het
Ppp2r5d A G 17: 46,995,610 (GRCm39) Y480H probably benign Het
Prkd1 A T 12: 50,472,298 (GRCm39) V205E probably damaging Het
R3hdm2 A G 10: 127,312,559 (GRCm39) I434V probably benign Het
Rel T A 11: 23,695,546 (GRCm39) T246S probably damaging Het
Rnf215 T A 11: 4,086,719 (GRCm39) V172E probably damaging Het
Scara3 T C 14: 66,158,553 (GRCm39) D485G probably damaging Het
Sec16a A T 2: 26,321,169 (GRCm39) Y1308N probably damaging Het
Sis A T 3: 72,839,393 (GRCm39) D824E possibly damaging Het
Slc27a4 T A 2: 29,701,202 (GRCm39) V331E probably damaging Het
Srebf1 C T 11: 60,091,528 (GRCm39) R999H probably benign Het
St3gal3 A C 4: 117,964,859 (GRCm39) M1R probably null Het
Tapbp C T 17: 34,138,914 (GRCm39) probably null Het
Tep1 A T 14: 51,103,494 (GRCm39) N265K probably damaging Het
Thoc2l T A 5: 104,666,123 (GRCm39) I215N probably damaging Het
Tln2 T A 9: 67,203,696 (GRCm39) N470I probably damaging Het
Trim43a G T 9: 88,470,211 (GRCm39) W339L probably damaging Het
Ttc22 T C 4: 106,479,977 (GRCm39) F77S probably damaging Het
Ttc8 A G 12: 98,887,023 (GRCm39) E32G probably benign Het
Uhmk1 A T 1: 170,036,222 (GRCm39) probably null Het
Usp17lc A G 7: 103,068,148 (GRCm39) H481R possibly damaging Het
Vamp8 G A 6: 72,362,617 (GRCm39) T35M probably damaging Het
Vill A G 9: 118,894,654 (GRCm39) Y53C probably damaging Het
Vmn1r222 A T 13: 23,416,932 (GRCm39) S94T probably damaging Het
Vmn2r93 A G 17: 18,525,413 (GRCm39) Y357C possibly damaging Het
Vps13c T A 9: 67,800,394 (GRCm39) V536D possibly damaging Het
Vrtn G A 12: 84,696,855 (GRCm39) C535Y probably damaging Het
Vwa3a A G 7: 120,367,388 (GRCm39) Y181C probably damaging Het
Wfikkn2 G A 11: 94,129,721 (GRCm39) T140I probably damaging Het
Ykt6 T A 11: 5,912,349 (GRCm39) F101I probably damaging Het
Zfp277 C T 12: 40,428,825 (GRCm39) G174D probably benign Het
Zfp638 A G 6: 83,955,047 (GRCm39) probably null Het
Zzef1 C T 11: 72,815,505 (GRCm39) P2942S 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
R1401:Hectd3 UTSW 4 116,859,466 (GRCm39) missense possibly damaging 0.52
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
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'- ACTCCAAGGCTCCAGATCCTGAAG -3'
(R):5'- TGGACCTAGCATTGAGGGATGTGAC -3'

Sequencing Primer
(F):5'- CAGGTAGTGGACCTGACCTATTC -3'
(R):5'- ATGTGACTGTATCTAGGCACAGG -3'
Posted On 2014-04-24