Incidental Mutation 'R1444:Hectd3'
ID 158704
Institutional Source Beutler Lab
Gene Symbol Hectd3
Ensembl Gene ENSMUSG00000046861
Gene Name HECT domain E3 ubiquitin protein ligase 3
Synonyms 1700064K09Rik
MMRRC Submission 039499-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1444 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 116852514-116862474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 116853593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 189 (R189L)
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: R189L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: R189L

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: ENSMUST00000155267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139209
Meta Mutation Damage Score 0.0772 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 98% (59/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,205,230 (GRCm39) D347V probably damaging Het
A630010A05Rik T A 16: 14,427,558 (GRCm39) F82I possibly damaging Het
Acad9 T A 3: 36,132,657 (GRCm39) F297L possibly damaging Het
Adgrl3 A T 5: 81,660,200 (GRCm39) Y323F probably damaging Het
Brca2 T A 5: 150,465,915 (GRCm39) M1893K probably benign Het
Cactin A T 10: 81,158,270 (GRCm39) probably null Het
Cadm4 A G 7: 24,203,046 (GRCm39) *389W probably null Het
Calr4 A G 4: 109,103,438 (GRCm39) T183A possibly damaging Het
Card10 A T 15: 78,672,041 (GRCm39) probably benign Het
Cdh6 C A 15: 13,091,924 (GRCm39) G14C probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Cr1l A T 1: 194,813,510 (GRCm39) L35Q probably damaging Het
Daam2 T C 17: 49,787,779 (GRCm39) R445G possibly damaging Het
Ddn G A 15: 98,704,485 (GRCm39) T269M probably damaging Het
Epb41 G A 4: 131,733,382 (GRCm39) S176L probably benign Het
Ephx2 T C 14: 66,344,769 (GRCm39) D167G probably damaging Het
Erbb4 G A 1: 68,293,759 (GRCm39) R711C probably damaging Het
Flg2 T A 3: 93,109,620 (GRCm39) H549Q unknown Het
Gje1 A G 10: 14,592,380 (GRCm39) probably null Het
Heatr5b G A 17: 79,060,622 (GRCm39) H2018Y probably benign Het
Heatr5b A T 17: 79,062,856 (GRCm39) probably benign Het
Hsd3b6 T C 3: 98,715,237 (GRCm39) T52A probably benign Het
Il10rb T G 16: 91,218,675 (GRCm39) probably null Het
Kcnc2 T C 10: 112,291,506 (GRCm39) probably benign Het
Lpl T A 8: 69,345,399 (GRCm39) D134E probably damaging Het
Lrit1 T C 14: 36,783,928 (GRCm39) F419L probably benign Het
Mmp8 T C 9: 7,567,264 (GRCm39) C422R probably benign Het
Myo18b A G 5: 112,923,117 (GRCm39) probably null Het
Ncor1 T A 11: 62,294,632 (GRCm39) I280F probably damaging Het
Obox2 A C 7: 15,130,957 (GRCm39) Q63P possibly damaging Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or4d2b T A 11: 87,780,585 (GRCm39) I46L probably benign Het
Phldb2 T A 16: 45,577,616 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,804,386 (GRCm39) F1735S probably damaging Het
Pramel11 G T 4: 143,623,461 (GRCm39) L238I probably benign Het
Prss30 T C 17: 24,192,712 (GRCm39) Y156C probably damaging Het
Rnf213 T C 11: 119,333,226 (GRCm39) S2812P probably damaging Het
Rttn A G 18: 89,060,991 (GRCm39) D1053G probably benign Het
Slc6a2 A G 8: 93,697,882 (GRCm39) N120S probably damaging Het
Snrnp200 T C 2: 127,070,158 (GRCm39) probably benign Het
Spindoc G T 19: 7,360,086 (GRCm39) D27E probably benign Het
Svep1 T C 4: 58,115,754 (GRCm39) T980A possibly damaging Het
Tgfbr1 A G 4: 47,393,259 (GRCm39) E46G probably benign Het
Tmem183a T C 1: 134,289,284 (GRCm39) I49V probably benign Het
Tmem212 C T 3: 27,939,244 (GRCm39) V81I possibly damaging Het
Toporsl T A 4: 52,610,254 (GRCm39) I49N probably benign Het
Trim67 A G 8: 125,549,932 (GRCm39) T521A probably benign Het
Vsnl1 T C 12: 11,382,219 (GRCm39) probably null Het
Wdr87-ps T C 7: 29,229,380 (GRCm39) noncoding transcript Het
Xrn2 C T 2: 146,903,408 (GRCm39) R803W probably damaging Het
Zfp131 A T 13: 120,251,784 (GRCm39) C9S probably damaging Het
Zfp750 C T 11: 121,402,873 (GRCm39) S625N probably damaging Het
Zfp871 G T 17: 32,993,900 (GRCm39) T406N possibly 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
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'- TGCTCAGGTCCTGCAACTCAAAG -3'
(R):5'- AGGTCCTCGTCGCACTCATATGTC -3'

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