Incidental Mutation 'R5288:Herc3'
ID 424477
Institutional Source Beutler Lab
Gene Symbol Herc3
Ensembl Gene ENSMUSG00000029804
Gene Name hect domain and RLD 3
Synonyms 5730409F18Rik
MMRRC Submission 042842-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5288 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 58808450-58897383 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58851263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 504 (M504K)
Ref Sequence ENSEMBL: ENSMUSP00000040025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401]
AlphaFold A6H6S0
Predicted Effect probably damaging
Transcript: ENSMUST00000031823
AA Change: M504K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: M504K

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: M504K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: M504K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204196
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,293,168 (GRCm39) Y7N probably damaging Het
Adcy1 A C 11: 7,111,351 (GRCm39) I881L probably benign Het
Aftph T C 11: 20,676,994 (GRCm39) D205G probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Ccdc88a T G 11: 29,448,416 (GRCm39) N1465K possibly damaging Het
Ccpg1 G A 9: 72,920,326 (GRCm39) S647N probably benign Het
Cep70 T A 9: 99,163,128 (GRCm39) L325Q probably damaging Het
Cfap46 A G 7: 139,193,423 (GRCm39) probably null Het
Cftr C T 6: 18,226,128 (GRCm39) Q359* probably null Het
Chrne A T 11: 70,505,913 (GRCm39) N457K possibly damaging Het
Cntn2 A G 1: 132,451,415 (GRCm39) I438T probably benign Het
Cntn4 T C 6: 106,158,765 (GRCm39) L10P possibly damaging Het
Copg1 G T 6: 87,867,189 (GRCm39) M87I possibly damaging Het
Cyfip1 A T 7: 55,574,883 (GRCm39) M1045L possibly damaging Het
Cyp2c29 C T 19: 39,318,816 (GRCm39) P432L probably damaging Het
Dcaf11 T A 14: 55,800,833 (GRCm39) D96E probably damaging Het
Dmxl2 A G 9: 54,286,041 (GRCm39) S2715P probably benign Het
Dnhd1 G A 7: 105,363,644 (GRCm39) E4069K possibly damaging Het
Dpy19l4 T A 4: 11,289,721 (GRCm39) N330I probably damaging Het
Dpy19l4 G T 4: 11,304,014 (GRCm39) A132D probably damaging Het
Duox2 A G 2: 122,125,617 (GRCm39) V330A probably benign Het
Dusp11 T C 6: 85,924,587 (GRCm39) *322W probably null Het
Dusp8 T A 7: 141,643,730 (GRCm39) Q61L possibly damaging Het
Eml3 G A 19: 8,916,638 (GRCm39) G720S probably damaging Het
F11 A G 8: 45,699,833 (GRCm39) S418P probably damaging Het
Fam91a1 G A 15: 58,320,243 (GRCm39) S645N probably benign Het
Fat2 G A 11: 55,158,482 (GRCm39) T3412I probably benign Het
Fbxo38 A G 18: 62,674,042 (GRCm39) M13T probably benign Het
Fbxo48 G T 11: 16,904,329 (GRCm39) L160F possibly damaging Het
Gm10134 T A 2: 28,396,372 (GRCm39) probably benign Het
Gm11787 T C 4: 3,511,795 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,399,053 (GRCm39) probably null Het
Gucy2g G A 19: 55,203,548 (GRCm39) A750V probably damaging Het
Hephl1 T C 9: 14,988,150 (GRCm39) T653A possibly damaging Het
Hmcn2 A G 2: 31,350,333 (GRCm39) T5077A probably benign Het
Ifitm3 T C 7: 140,590,554 (GRCm39) N2S probably benign Het
Ighe T C 12: 113,235,092 (GRCm39) H356R probably benign Het
Ighv10-3 T A 12: 114,487,125 (GRCm39) M99L probably benign Het
Izumo4 C A 10: 80,538,639 (GRCm39) C30* probably null Het
Jag1 A T 2: 136,937,464 (GRCm39) H303Q possibly damaging Het
Kif24 T C 4: 41,395,373 (GRCm39) E500G probably benign Het
Kng1 A T 16: 22,897,842 (GRCm39) D414V probably damaging Het
Loxhd1 A C 18: 77,451,308 (GRCm39) D410A probably damaging Het
Ltn1 T C 16: 87,212,899 (GRCm39) K554R possibly damaging Het
Ly75 A G 2: 60,133,985 (GRCm39) C1547R probably damaging Het
Ms4a6d A T 19: 11,564,500 (GRCm39) S124T possibly damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Mtfr2 A G 10: 20,233,448 (GRCm39) D339G probably damaging Het
Myh10 T A 11: 68,692,434 (GRCm39) L1369Q probably damaging Het
Myh11 A T 16: 14,025,872 (GRCm39) V1366D possibly damaging Het
Nadsyn1 A G 7: 143,357,023 (GRCm39) V491A possibly damaging Het
Nav3 T C 10: 109,688,966 (GRCm39) N437S probably benign Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Neb A T 2: 52,079,873 (GRCm39) I85N probably damaging Het
Nktr A G 9: 121,577,659 (GRCm39) K576E probably benign Het
Nmur2 T A 11: 55,931,040 (GRCm39) I224F probably damaging Het
Oas3 A G 5: 120,895,055 (GRCm39) F978S probably damaging Het
Or10ag53 C T 2: 87,082,827 (GRCm39) P182L probably benign Het
Or10ak9 T C 4: 118,726,772 (GRCm39) S264P probably damaging Het
Or2r3 T A 6: 42,448,186 (GRCm39) I309F probably benign Het
Or2t48 A T 11: 58,420,308 (GRCm39) M168K probably damaging Het
Or5p60 T C 7: 107,724,375 (GRCm39) T32A probably benign Het
Pcyox1 A T 6: 86,369,336 (GRCm39) probably null Het
Pdcd7 G A 9: 65,265,974 (GRCm39) W477* probably null Het
Pitpnm1 T C 19: 4,153,435 (GRCm39) F197S probably damaging Het
Plce1 C A 19: 38,748,535 (GRCm39) N1755K probably damaging Het
Pnpla7 C A 2: 24,931,031 (GRCm39) P882Q probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Pomt1 C G 2: 32,134,311 (GRCm39) Y277* probably null Het
Pou4f2 A G 8: 79,162,958 (GRCm39) Y26H unknown Het
Pphln1-ps1 T G 16: 13,495,622 (GRCm39) N240K probably benign Het
Ppm1e A T 11: 87,249,377 (GRCm39) L118Q possibly damaging Het
Pramel34 C T 5: 93,785,607 (GRCm39) M224I possibly damaging Het
Prdx2 T A 8: 85,698,302 (GRCm39) Y164* probably null Het
Prkra T G 2: 76,469,622 (GRCm39) T146P probably damaging Het
Prpf8 A G 11: 75,386,625 (GRCm39) D1038G probably damaging Het
Rab4a A T 8: 124,554,113 (GRCm39) I16L probably benign Het
Rai2 A G X: 160,561,636 (GRCm39) N363S probably benign Het
Ranbp17 A T 11: 33,169,241 (GRCm39) V991D possibly damaging Het
Rimbp2 G A 5: 128,865,656 (GRCm39) T557M probably benign Het
Rmi1 G A 13: 58,557,280 (GRCm39) G510R probably damaging Het
Sdad1 A G 5: 92,434,684 (GRCm39) *687Q probably null Het
Sema6d T C 2: 124,506,166 (GRCm39) L720P probably damaging Het
Setx T G 2: 29,024,045 (GRCm39) probably null Het
Sgsm3 T C 15: 80,892,200 (GRCm39) V256A probably benign Het
Slc28a2b C A 2: 122,353,259 (GRCm39) L480I probably benign Het
Sppl2c T A 11: 104,078,127 (GRCm39) I309K possibly damaging Het
Stard9 A G 2: 120,531,111 (GRCm39) E2456G probably damaging Het
Strn3 C G 12: 51,694,803 (GRCm39) R320P probably damaging Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Syne2 T A 12: 76,146,112 (GRCm39) S6377T possibly damaging Het
Tas2r123 A T 6: 132,824,190 (GRCm39) H29L probably benign Het
Tbl3 C T 17: 24,924,944 (GRCm39) V52M possibly damaging Het
Tbp A G 17: 15,727,609 (GRCm39) I145V probably benign Het
Tcf20 A T 15: 82,739,910 (GRCm39) S514T possibly damaging Het
Tgm4 A G 9: 122,885,559 (GRCm39) Y367C probably damaging Het
Tle1 C T 4: 72,060,081 (GRCm39) V258M probably damaging Het
Tln1 C T 4: 43,540,661 (GRCm39) V1447I probably benign Het
Tnfrsf11b C T 15: 54,141,622 (GRCm39) A8T probably benign Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Trmt6 C A 2: 132,650,703 (GRCm39) A302S probably benign Het
Tsen15 C T 1: 152,259,131 (GRCm39) V76I probably damaging Het
Ttc17 A T 2: 94,133,985 (GRCm39) W1067R probably damaging Het
Ucn3 A T 13: 3,991,474 (GRCm39) F59L probably benign Het
Ulk3 T A 9: 57,498,023 (GRCm39) I108N possibly damaging Het
Vmn2r94 A C 17: 18,464,728 (GRCm39) Y521D probably damaging Het
Vps45 T C 3: 95,965,086 (GRCm39) M1V probably null Het
Vta1 C A 10: 14,581,143 (GRCm39) L21F probably damaging Het
Zdhhc21 C T 4: 82,765,929 (GRCm39) G2D probably damaging Het
Zfp169 A T 13: 48,643,751 (GRCm39) C459S possibly damaging Het
Zfp90 C T 8: 107,152,000 (GRCm39) T571M probably damaging Het
Zswim8 A T 14: 20,768,939 (GRCm39) N1119I possibly 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
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
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
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'- TACTGGGTGTCTGAACCAGC -3'
(R):5'- GTTAGATCCCAGTCCACAAGAGC -3'

Sequencing Primer
(F):5'- GCTCAGTGCACACCGAATG -3'
(R):5'- GTCCACAAGAGCCAGCTG -3'
Posted On 2016-08-04