Incidental Mutation 'R3937:Hectd3'
ID 307214
Institutional Source Beutler Lab
Gene Symbol Hectd3
Ensembl Gene ENSMUSG00000046861
Gene Name HECT domain E3 ubiquitin protein ligase 3
Synonyms 1700064K09Rik
MMRRC Submission 040921-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3937 (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 116855727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 409 (V409A)
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 benign
Transcript: ENSMUST00000050067
AA Change: V409A

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: V409A

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: ENSMUST00000133234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153629
Meta Mutation Damage Score 0.1098 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (60/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T G 4: 148,026,510 (GRCm39) S343R possibly damaging Het
Abca8b G T 11: 109,865,393 (GRCm39) P355T probably benign Het
Abhd15 T C 11: 77,406,764 (GRCm39) V247A probably benign Het
Adamts1 C T 16: 85,592,507 (GRCm39) V634M possibly damaging Het
BC049715 T C 6: 136,817,453 (GRCm39) I231T possibly damaging Het
Chpf A T 1: 75,454,184 (GRCm39) V198E probably damaging Het
Cp C T 3: 20,025,198 (GRCm39) P386S probably damaging Het
Cth A G 3: 157,625,677 (GRCm39) I107T possibly damaging Het
Ctrc T C 4: 141,567,632 (GRCm39) D157G probably damaging Het
D630003M21Rik A G 2: 158,042,280 (GRCm39) Y889H probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Esyt3 A T 9: 99,218,245 (GRCm39) I130K probably benign Het
F13a1 A T 13: 37,100,875 (GRCm39) V423D probably damaging Het
Faf1 T C 4: 109,614,889 (GRCm39) probably benign Het
Fam227b A T 2: 125,968,980 (GRCm39) D31E probably benign Het
Fastkd2 A G 1: 63,776,995 (GRCm39) D377G possibly damaging Het
Fbxl6 G A 15: 76,420,824 (GRCm39) R384* probably null Het
Fcamr A T 1: 130,732,313 (GRCm39) H44L probably damaging Het
Fhod3 A G 18: 25,223,818 (GRCm39) N1055D probably benign Het
Garem1 A T 18: 21,281,863 (GRCm39) Y164* probably null Het
Gemin4 C T 11: 76,103,714 (GRCm39) C349Y probably damaging Het
Gnal A G 18: 67,268,441 (GRCm39) probably null Het
Hacl1 T C 14: 31,356,148 (GRCm39) probably benign Het
Hps6 A G 19: 45,992,492 (GRCm39) E143G probably damaging Het
Hspa4 T A 11: 53,161,776 (GRCm39) I459L probably benign Het
Ighv3-6 G A 12: 114,252,061 (GRCm39) Q21* probably null Het
Ints3 G A 3: 90,311,294 (GRCm39) R438* probably null Het
Jmjd6 T C 11: 116,731,991 (GRCm39) N237D probably benign Het
Lrrk2 C A 15: 91,662,707 (GRCm39) T1912K probably damaging Het
Mdga2 C A 12: 67,267,980 (GRCm39) probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh6 T C 14: 55,200,512 (GRCm39) D203G probably benign Het
Myo5b T C 18: 74,849,108 (GRCm39) S1116P probably damaging Het
Nalcn T A 14: 123,607,357 (GRCm39) D704V probably benign Het
Nes A T 3: 87,878,543 (GRCm39) M12L probably benign Het
Or10ak7 T C 4: 118,791,880 (GRCm39) D53G probably damaging Het
Or10al2 A G 17: 37,983,858 (GRCm39) T315A probably benign Het
Or2f1 T A 6: 42,721,010 (GRCm39) I13N probably damaging Het
Or5j3 T A 2: 86,128,360 (GRCm39) S67T probably damaging Het
Pcdha2 T C 18: 37,074,376 (GRCm39) V669A probably benign Het
Pdhx T C 2: 102,852,564 (GRCm39) N433S probably damaging Het
Pip5kl1 A G 2: 32,469,124 (GRCm39) R261G probably damaging Het
Plekhj1 A G 10: 80,633,609 (GRCm39) I76T probably damaging Het
Ppp1r3a A T 6: 14,719,073 (GRCm39) S614T probably damaging Het
Ptpru T C 4: 131,501,615 (GRCm39) N1207S probably damaging Het
Ranbp2 T C 10: 58,312,294 (GRCm39) F1005L probably benign Het
Rims2 A G 15: 39,301,241 (GRCm39) E324G probably damaging Het
Sema6d A T 2: 124,498,770 (GRCm39) I227L probably benign Het
Smarcad1 T G 6: 65,091,320 (GRCm39) L1014V probably damaging Het
Spag9 T G 11: 93,935,305 (GRCm39) S39A possibly damaging Het
Spag9 T C 11: 93,935,243 (GRCm39) V18A possibly damaging Het
Sun2 T C 15: 79,618,356 (GRCm39) K268E probably benign Het
Tbpl2 C T 2: 23,977,151 (GRCm39) R289Q probably benign Het
Tcea3 T A 4: 135,982,454 (GRCm39) probably benign Het
Tmem185a C T X: 69,505,792 (GRCm39) probably null Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Vmn1r212 A T 13: 23,067,358 (GRCm39) V325E unknown Het
Vmn1r35 T A 6: 66,656,057 (GRCm39) R204S probably damaging Het
Vmn2r57 A G 7: 41,077,554 (GRCm39) M204T probably damaging Het
Wdfy3 A T 5: 102,092,105 (GRCm39) Y411* probably null Het
Zfp335 G T 2: 164,752,620 (GRCm39) D41E 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
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
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'- AGTGACAAAATGCCCACTGC -3'
(R):5'- CCCAGTGTCTAATCCACAGG -3'

Sequencing Primer
(F):5'- GCTCAGTAAAGGGCCATATCCTG -3'
(R):5'- TCCACAGGGACAGAAGGG -3'
Posted On 2015-04-17