Incidental Mutation 'R0268:Herc3'
ID 35063
Institutional Source Beutler Lab
Gene Symbol Herc3
Ensembl Gene ENSMUSG00000029804
Gene Name hect domain and RLD 3
Synonyms 5730409F18Rik
MMRRC Submission 038494-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0268 (G1)
Quality Score 105
Status Validated
Chromosome 6
Chromosomal Location 58808450-58897383 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 58845613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401]
AlphaFold A6H6S0
Predicted Effect probably benign
Transcript: ENSMUST00000031823
SMART Domains Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804

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 benign
Transcript: ENSMUST00000041401
SMART Domains Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804

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 noncoding transcript
Transcript: ENSMUST00000122908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154290
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 95.9%
  • 20x: 93.0%
Validation Efficiency 98% (93/95)
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
4930432E11Rik T A 7: 29,274,027 (GRCm39) noncoding transcript Het
Aadacl4 A T 4: 144,349,565 (GRCm39) H274L probably benign Het
Aldh1a7 T A 19: 20,686,866 (GRCm39) probably null Het
Ap3m1 A C 14: 21,087,170 (GRCm39) probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Avpr1a T C 10: 122,285,614 (GRCm39) V302A probably damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Cd209e T C 8: 3,899,125 (GRCm39) I196V probably benign Het
Cdc42bpa G T 1: 179,983,347 (GRCm39) probably benign Het
Cdcp3 A G 7: 130,839,905 (GRCm39) D609G probably damaging Het
Clec16a T A 16: 10,462,692 (GRCm39) L670* probably null Het
Cmtm2b A G 8: 105,049,066 (GRCm39) E27G probably damaging Het
Col4a1 T A 8: 11,317,588 (GRCm39) probably benign Het
Cyp26b1 A T 6: 84,551,554 (GRCm39) F221I probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dip2c G A 13: 9,687,186 (GRCm39) R1270H probably damaging Het
Dlg1 T C 16: 31,503,011 (GRCm39) C73R probably benign Het
Dnah8 A G 17: 30,988,681 (GRCm39) D3217G probably damaging Het
Dtx1 T C 5: 120,819,356 (GRCm39) E614G probably damaging Het
Dut C A 2: 125,099,011 (GRCm39) A166E probably damaging Het
Ebf1 C A 11: 44,534,240 (GRCm39) D166E probably damaging Het
Egln2 A T 7: 26,864,672 (GRCm39) D84E possibly damaging Het
Exosc7 T A 9: 122,948,025 (GRCm39) S65T probably benign Het
Fam83e G A 7: 45,376,334 (GRCm39) R349Q probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fras1 A G 5: 96,884,868 (GRCm39) N2582S probably damaging Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gfral A T 9: 76,104,383 (GRCm39) C210S probably damaging Het
Gls GGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTG 1: 52,271,853 (GRCm39) probably benign Het
Hcn4 A C 9: 58,767,445 (GRCm39) E1002A unknown Het
Hcrtr2 A G 9: 76,135,470 (GRCm39) V449A probably benign Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 C A 12: 51,815,890 (GRCm39) S1394I probably damaging Het
Hecw2 A G 1: 53,965,857 (GRCm39) probably benign Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itsn2 G A 12: 4,750,333 (GRCm39) R1199Q probably benign Het
Kcnj3 C A 2: 55,484,971 (GRCm39) Y356* probably null Het
Klb T A 5: 65,506,180 (GRCm39) D142E probably benign Het
Klhl35 T A 7: 99,120,958 (GRCm39) S409T probably benign Het
Krt16 T A 11: 100,137,351 (GRCm39) probably benign Het
Krt82 C A 15: 101,450,148 (GRCm39) R516L probably benign Het
Lce3a A T 3: 92,833,038 (GRCm39) C21S unknown Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Map2 A T 1: 66,419,881 (GRCm39) K71* probably null Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Mycbp2 T A 14: 103,551,761 (GRCm39) R157* probably null Het
Nat10 C A 2: 103,558,262 (GRCm39) probably benign Het
Obscn G A 11: 58,958,098 (GRCm39) T3810M possibly damaging Het
Or13a19 G A 7: 139,903,068 (GRCm39) S152N possibly damaging Het
Or1x6 T A 11: 50,939,768 (GRCm39) M278K probably damaging Het
Or5d35 A T 2: 87,855,812 (GRCm39) I249F probably damaging Het
Or5g29 A G 2: 85,421,645 (GRCm39) T254A possibly damaging Het
Or6c209 A T 10: 129,483,045 (GRCm39) D16V possibly damaging Het
Or7a38 C T 10: 78,753,439 (GRCm39) T255I probably damaging Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgm2 T A 5: 64,263,151 (GRCm39) V266E probably damaging Het
Phip G A 9: 82,753,341 (GRCm39) T1801I probably damaging Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Ppp1r12a T A 10: 108,109,242 (GRCm39) probably benign Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Ptprq A T 10: 107,541,409 (GRCm39) D372E probably benign Het
Ptprr G A 10: 116,088,868 (GRCm39) V340I possibly damaging Het
Qki A G 17: 10,428,575 (GRCm39) probably benign Het
Qpct T A 17: 79,385,081 (GRCm39) D240E probably benign Het
Ren1 A G 1: 133,283,349 (GRCm39) T162A possibly damaging Het
Rif1 T C 2: 51,980,298 (GRCm39) probably null Het
Sart3 A G 5: 113,890,460 (GRCm39) V461A probably damaging Het
Saxo4 A G 19: 10,454,449 (GRCm39) V329A possibly damaging Het
Scgb1b24 G A 7: 33,443,278 (GRCm39) G19R probably null Het
Spen A T 4: 141,204,868 (GRCm39) I1253N unknown Het
Sspo C A 6: 48,442,489 (GRCm39) H1995N probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Togaram2 T C 17: 72,004,993 (GRCm39) probably null Het
Trim65 T A 11: 116,017,470 (GRCm39) probably benign Het
Trpm3 T A 19: 22,874,885 (GRCm39) probably null Het
Ubxn7 T C 16: 32,178,864 (GRCm39) I87T probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r102 A G 17: 19,898,112 (GRCm39) T376A probably benign Het
Vmn2r105 A T 17: 20,428,938 (GRCm39) C713S probably benign Het
Zbtb45 C T 7: 12,742,254 (GRCm39) M1I probably null Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign Het
Zfp932 T C 5: 110,156,929 (GRCm39) I176T probably benign Het
Zswim1 G A 2: 164,668,046 (GRCm39) E433K probably damaging 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
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
R1765:Herc3 UTSW 6 58,865,645 (GRCm39) missense probably damaging 0.99
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'- TGAAGAACAGCCTGCATCCTCG -3'
(R):5'- AGAGACATGACCTCCAGCTTTCCC -3'

Sequencing Primer
(F):5'- tctggagatgacactgagga -3'
(R):5'- CTTTCCCTAAGAGGGTGTCACAG -3'
Posted On 2013-05-09