Incidental Mutation 'R1765:Herc3'
ID 194282
Institutional Source Beutler Lab
Gene Symbol Herc3
Ensembl Gene ENSMUSG00000029804
Gene Name hect domain and RLD 3
Synonyms 5730409F18Rik
MMRRC Submission 039797-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1765 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 58808450-58897383 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58865645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 746 (V746A)
Ref Sequence ENSEMBL: ENSMUSP00000040025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401] [ENSMUST00000204629]
AlphaFold A6H6S0
Predicted Effect probably damaging
Transcript: ENSMUST00000031823
AA Change: V746A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: V746A

DomainStartEndE-ValueType
Pfam:RCC1_2 36 65 3.3e-11 PFAM
Pfam:RCC1 52 99 3.6e-15 PFAM
Pfam:RCC1_2 86 115 1.1e-10 PFAM
Pfam:RCC1 102 152 1.4e-16 PFAM
Pfam:RCC1_2 139 168 2.1e-9 PFAM
Pfam:RCC1 155 205 2.6e-16 PFAM
Pfam:RCC1_2 193 221 1.5e-9 PFAM
Pfam:RCC1 208 257 4.7e-17 PFAM
Pfam:RCC1_2 244 273 8e-9 PFAM
Pfam:RCC1 260 309 2.6e-16 PFAM
Pfam:RCC1_2 296 326 2.3e-7 PFAM
Pfam:RCC1 313 377 3.8e-9 PFAM
HECTc 721 913 2.08e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000041401
AA Change: V746A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: V746A

DomainStartEndE-ValueType
Pfam:RCC1_2 36 65 1.7e-11 PFAM
Pfam:RCC1 52 99 1.6e-15 PFAM
Pfam:RCC1_2 86 115 1.1e-10 PFAM
Pfam:RCC1 102 152 7.3e-16 PFAM
Pfam:RCC1_2 139 168 1.3e-9 PFAM
Pfam:RCC1 155 205 1.4e-16 PFAM
Pfam:RCC1_2 193 221 5e-10 PFAM
Pfam:RCC1 208 257 1.4e-16 PFAM
Pfam:RCC1_2 244 273 6.1e-8 PFAM
Pfam:RCC1 260 309 1.7e-14 PFAM
Pfam:RCC1_2 296 326 1.1e-7 PFAM
Pfam:RCC1 313 377 6.6e-11 PFAM
HECTc 721 1050 5.79e-157 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204629
SMART Domains Protein: ENSMUSP00000145319
Gene: ENSMUSG00000029804

DomainStartEndE-ValueType
Pfam:HECT 1 97 1.9e-16 PFAM
Meta Mutation Damage Score 0.3241 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 99% (90/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik G T 15: 59,887,194 (GRCm39) C415* probably null Het
Adamtsl2 A C 2: 26,992,842 (GRCm39) I652L probably benign Het
Adgrl4 T C 3: 151,248,872 (GRCm39) I720T probably damaging Het
Agrn A T 4: 156,261,284 (GRCm39) C604* probably null Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
B3galt2 C A 1: 143,522,207 (GRCm39) N114K probably benign Het
Bud23 A T 5: 135,084,897 (GRCm39) M59K probably benign Het
C3 C T 17: 57,531,401 (GRCm39) probably null Het
C9orf72 A C 4: 35,197,098 (GRCm39) H322Q probably damaging Het
Cc2d2a A T 5: 43,871,873 (GRCm39) D903V probably damaging Het
Ccdc9b G A 2: 118,591,128 (GRCm39) A135V probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdan1 A C 2: 120,551,230 (GRCm39) L1097V probably damaging Het
Cdc26 T A 4: 62,313,155 (GRCm39) N62I probably benign Het
Cdc27 G T 11: 104,425,607 (GRCm39) Q70K probably damaging Het
Cenpq A T 17: 41,235,178 (GRCm39) probably null Het
Cep295 T C 9: 15,239,200 (GRCm39) S1858G probably damaging Het
Clasp1 T C 1: 118,433,261 (GRCm39) S247P probably damaging Het
Cyp2w1 C T 5: 139,339,623 (GRCm39) T71I probably damaging Het
Dcaf1 T C 9: 106,741,793 (GRCm39) F1336S probably damaging Het
Dennd6b G A 15: 89,074,506 (GRCm39) Q104* probably null Het
Dglucy T A 12: 100,816,361 (GRCm39) probably null Het
Dnajc9 A G 14: 20,438,158 (GRCm39) V148A possibly damaging Het
Dnmbp T A 19: 43,890,579 (GRCm39) D396V possibly damaging Het
Dock10 T A 1: 80,583,540 (GRCm39) I221F probably damaging Het
Dscam T C 16: 96,486,579 (GRCm39) N1032S probably benign Het
Dsg4 A C 18: 20,589,888 (GRCm39) Y346S probably benign Het
Dync1i2 A G 2: 71,079,759 (GRCm39) H417R probably benign Het
Dysf G A 6: 84,167,884 (GRCm39) probably null Het
Elovl1 A G 4: 118,287,707 (GRCm39) M1V probably null Het
Eva1c A G 16: 90,701,135 (GRCm39) S257G probably benign Het
Eya2 A T 2: 165,566,723 (GRCm39) D258V probably damaging Het
Fam193a A G 5: 34,593,841 (GRCm39) T113A probably damaging Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Fstl5 G T 3: 76,500,783 (GRCm39) R404L possibly damaging Het
Glud1 T C 14: 34,047,541 (GRCm39) probably benign Het
Gm10770 A C 2: 150,021,258 (GRCm39) H86Q probably damaging Het
Gzme C T 14: 56,355,871 (GRCm39) G147D probably damaging Het
Hmga1 A G 17: 27,778,592 (GRCm39) E17G probably damaging Het
Kdelr2 A T 5: 143,406,567 (GRCm39) K206* probably null Het
Kng2 A G 16: 22,806,993 (GRCm39) probably null Het
Lrrc41 G A 4: 115,946,248 (GRCm39) R321H possibly damaging Het
Mapkapk2 A T 1: 130,986,498 (GRCm39) M1K probably null Het
Me2 A G 18: 73,924,929 (GRCm39) F263L probably damaging Het
Mkks A G 2: 136,722,287 (GRCm39) L290P probably damaging Het
Mmp12 T A 9: 7,354,772 (GRCm39) I255N probably damaging Het
Mogs A G 6: 83,093,784 (GRCm39) D251G probably benign Het
Morf4l1 T A 9: 89,984,401 (GRCm39) Y65F possibly damaging Het
Neb T C 2: 52,094,676 (GRCm39) D5169G probably damaging Het
Nin A G 12: 70,089,665 (GRCm39) L1250P probably damaging Het
Nomo1 G T 7: 45,715,717 (GRCm39) G721V possibly damaging Het
Notch2 T G 3: 98,029,242 (GRCm39) C1002G probably damaging Het
Npat T C 9: 53,481,522 (GRCm39) Y1077H probably benign Het
Or1e1c T A 11: 73,266,170 (GRCm39) N198K probably damaging Het
Or4g17 G A 2: 111,209,491 (GRCm39) V49I probably benign Het
Or4p21 A T 2: 88,276,367 (GRCm39) F305Y probably damaging Het
Or5h25 A G 16: 58,930,118 (GRCm39) L285P probably damaging Het
Or8c16 T C 9: 38,130,548 (GRCm39) I143T probably benign Het
Otop2 A T 11: 115,215,504 (GRCm39) I142F probably benign Het
Pacsin3 A G 2: 91,093,460 (GRCm39) E279G possibly damaging Het
Pafah2 A G 4: 134,140,758 (GRCm39) T243A probably benign Het
Pcdhgc5 A G 18: 37,954,913 (GRCm39) H729R probably benign Het
Plcd1 T C 9: 118,900,874 (GRCm39) D756G probably damaging Het
Prune2 A G 19: 17,102,962 (GRCm39) E2707G probably damaging Het
Rit2 C T 18: 31,449,951 (GRCm39) G16S probably damaging Het
Sec24c A G 14: 20,738,922 (GRCm39) probably benign Het
Skint5 G T 4: 113,434,858 (GRCm39) T1037K unknown Het
Slc28a2 T A 2: 122,290,876 (GRCm39) probably null Het
Slc41a2 G A 10: 83,137,130 (GRCm39) A259V probably damaging Het
Slc6a17 T A 3: 107,380,895 (GRCm39) I537F possibly damaging Het
Slco1a7 T C 6: 141,700,084 (GRCm39) probably benign Het
Smchd1 A T 17: 71,707,196 (GRCm39) probably benign Het
Smg1 T C 7: 117,738,938 (GRCm39) I3489V probably benign Het
Sytl3 T C 17: 6,967,082 (GRCm39) L142P probably damaging Het
Tektl1 A T 10: 78,584,502 (GRCm39) M340K probably benign Het
Tfr2 C T 5: 137,581,707 (GRCm39) T598I probably damaging Het
Tmc2 A G 2: 130,102,145 (GRCm39) Q770R probably benign Het
Tnc C T 4: 63,932,231 (GRCm39) V728M probably damaging Het
Trim68 A T 7: 102,329,597 (GRCm39) M177K possibly damaging Het
Trmt11 T C 10: 30,435,184 (GRCm39) D325G probably benign Het
Ube3a C T 7: 58,935,862 (GRCm39) T582I probably damaging Het
Usp13 G A 3: 32,969,919 (GRCm39) E682K probably benign Het
Usp9y A G Y: 1,384,454 (GRCm39) V688A possibly damaging Het
Uts2r A G 11: 121,052,095 (GRCm39) T320A possibly damaging Het
Vmn1r34 A T 6: 66,614,480 (GRCm39) M86K probably damaging Het
Vsig10 A G 5: 117,456,880 (GRCm39) probably benign Het
Zbtb41 T A 1: 139,368,132 (GRCm39) C607S probably benign Het
Other mutations in Herc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Herc3 APN 6 58,851,248 (GRCm39) missense probably damaging 1.00
IGL00423:Herc3 APN 6 58,845,700 (GRCm39) missense probably damaging 0.99
IGL00468:Herc3 APN 6 58,895,751 (GRCm39) missense probably benign 0.04
IGL01153:Herc3 APN 6 58,837,321 (GRCm39) missense probably benign 0.21
IGL01468:Herc3 APN 6 58,831,880 (GRCm39) missense probably benign 0.00
IGL01696:Herc3 APN 6 58,837,371 (GRCm39) missense possibly damaging 0.58
IGL01975:Herc3 APN 6 58,893,561 (GRCm39) missense possibly damaging 0.91
IGL02797:Herc3 APN 6 58,845,679 (GRCm39) missense probably benign
IGL02953:Herc3 APN 6 58,834,718 (GRCm39) nonsense probably null
aegean UTSW 6 58,832,745 (GRCm39) nonsense probably null
PIT4519001:Herc3 UTSW 6 58,853,796 (GRCm39) missense probably damaging 1.00
R0019:Herc3 UTSW 6 58,862,050 (GRCm39) splice site probably benign
R0019:Herc3 UTSW 6 58,862,050 (GRCm39) splice site probably benign
R0025:Herc3 UTSW 6 58,851,293 (GRCm39) missense probably damaging 1.00
R0025:Herc3 UTSW 6 58,851,293 (GRCm39) missense probably damaging 1.00
R0268:Herc3 UTSW 6 58,845,613 (GRCm39) splice site probably benign
R0334:Herc3 UTSW 6 58,895,802 (GRCm39) missense probably damaging 1.00
R0344:Herc3 UTSW 6 58,845,613 (GRCm39) splice site probably benign
R0853:Herc3 UTSW 6 58,853,549 (GRCm39) missense probably damaging 1.00
R0927:Herc3 UTSW 6 58,845,748 (GRCm39) missense possibly damaging 0.48
R1333:Herc3 UTSW 6 58,864,478 (GRCm39) missense probably damaging 1.00
R1432:Herc3 UTSW 6 58,893,827 (GRCm39) missense possibly damaging 0.49
R1450:Herc3 UTSW 6 58,853,500 (GRCm39) nonsense probably null
R1594:Herc3 UTSW 6 58,864,569 (GRCm39) unclassified probably benign
R1757:Herc3 UTSW 6 58,893,455 (GRCm39) missense probably damaging 1.00
R1932:Herc3 UTSW 6 58,853,778 (GRCm39) missense probably damaging 0.99
R1945:Herc3 UTSW 6 58,864,424 (GRCm39) missense probably damaging 0.96
R1988:Herc3 UTSW 6 58,861,960 (GRCm39) critical splice donor site probably null
R2172:Herc3 UTSW 6 58,864,422 (GRCm39) missense probably damaging 1.00
R3080:Herc3 UTSW 6 58,833,631 (GRCm39) splice site probably null
R3545:Herc3 UTSW 6 58,833,670 (GRCm39) missense probably damaging 1.00
R3767:Herc3 UTSW 6 58,853,587 (GRCm39) missense probably benign 0.00
R3767:Herc3 UTSW 6 58,839,973 (GRCm39) missense probably benign
R3805:Herc3 UTSW 6 58,893,835 (GRCm39) missense probably damaging 1.00
R3806:Herc3 UTSW 6 58,893,835 (GRCm39) missense probably damaging 1.00
R4049:Herc3 UTSW 6 58,853,822 (GRCm39) missense probably damaging 0.99
R4250:Herc3 UTSW 6 58,893,501 (GRCm39) missense probably damaging 1.00
R4469:Herc3 UTSW 6 58,853,794 (GRCm39) nonsense probably null
R4534:Herc3 UTSW 6 58,837,332 (GRCm39) missense probably benign
R4573:Herc3 UTSW 6 58,871,098 (GRCm39) missense possibly damaging 0.89
R4887:Herc3 UTSW 6 58,864,484 (GRCm39) missense probably damaging 1.00
R5047:Herc3 UTSW 6 58,832,745 (GRCm39) nonsense probably null
R5049:Herc3 UTSW 6 58,871,524 (GRCm39) splice site probably null
R5062:Herc3 UTSW 6 58,832,745 (GRCm39) nonsense probably null
R5063:Herc3 UTSW 6 58,832,745 (GRCm39) nonsense probably null
R5288:Herc3 UTSW 6 58,851,263 (GRCm39) missense probably damaging 0.99
R5297:Herc3 UTSW 6 58,833,626 (GRCm39) missense probably damaging 1.00
R5386:Herc3 UTSW 6 58,851,263 (GRCm39) missense probably damaging 0.99
R5435:Herc3 UTSW 6 58,832,791 (GRCm39) missense probably damaging 1.00
R5576:Herc3 UTSW 6 58,865,710 (GRCm39) missense probably benign 0.08
R5605:Herc3 UTSW 6 58,834,712 (GRCm39) missense probably damaging 1.00
R5719:Herc3 UTSW 6 58,871,528 (GRCm39) missense possibly damaging 0.67
R5743:Herc3 UTSW 6 58,895,784 (GRCm39) missense probably benign 0.12
R5870:Herc3 UTSW 6 58,893,435 (GRCm39) missense probably benign 0.01
R6460:Herc3 UTSW 6 58,867,108 (GRCm39) missense probably damaging 1.00
R6930:Herc3 UTSW 6 58,893,444 (GRCm39) missense probably damaging 0.98
R7034:Herc3 UTSW 6 58,853,840 (GRCm39) missense probably benign 0.00
R7131:Herc3 UTSW 6 58,864,409 (GRCm39) missense probably damaging 1.00
R7187:Herc3 UTSW 6 58,833,616 (GRCm39) missense probably benign 0.42
R7212:Herc3 UTSW 6 58,895,758 (GRCm39) missense probably damaging 1.00
R7335:Herc3 UTSW 6 58,853,773 (GRCm39) missense possibly damaging 0.95
R7349:Herc3 UTSW 6 58,835,971 (GRCm39) missense probably benign
R7568:Herc3 UTSW 6 58,820,795 (GRCm39) missense probably benign 0.01
R7857:Herc3 UTSW 6 58,820,637 (GRCm39) nonsense probably null
R8321:Herc3 UTSW 6 58,820,754 (GRCm39) missense possibly damaging 0.93
R8672:Herc3 UTSW 6 58,850,786 (GRCm39) missense probably damaging 0.96
R8684:Herc3 UTSW 6 58,864,561 (GRCm39) missense probably damaging 1.00
R8968:Herc3 UTSW 6 58,867,183 (GRCm39) missense probably damaging 1.00
R8994:Herc3 UTSW 6 58,851,328 (GRCm39) missense probably benign 0.11
R9219:Herc3 UTSW 6 58,871,552 (GRCm39) missense probably benign 0.01
R9434:Herc3 UTSW 6 58,853,846 (GRCm39) missense probably benign 0.00
R9562:Herc3 UTSW 6 58,835,999 (GRCm39) missense probably null 0.01
R9565:Herc3 UTSW 6 58,835,999 (GRCm39) missense probably null 0.01
Z1176:Herc3 UTSW 6 58,820,843 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAGAACACTCGCTTCTCCTGTGTG -3'
(R):5'- AAATGACACTGGGGCTCATGGC -3'

Sequencing Primer
(F):5'- GTGACTCCTGTTCAGCTAATAGTACC -3'
(R):5'- TTTAAGCCTGAAGGCTGGAC -3'
Posted On 2014-05-23