Incidental Mutation 'R1945:Herc3'
ID 216570
Institutional Source Beutler Lab
Gene Symbol Herc3
Ensembl Gene ENSMUSG00000029804
Gene Name hect domain and RLD 3
Synonyms 5730409F18Rik
MMRRC Submission 039963-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1945 (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 C at 58864424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 686 (V686A)
Ref Sequence ENSEMBL: ENSMUSP00000031823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401] [ENSMUST00000204629]
AlphaFold A6H6S0
Predicted Effect probably damaging
Transcript: ENSMUST00000031823
AA Change: V686A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: V686A

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 possibly damaging
Transcript: ENSMUST00000041401
AA Change: V686A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: V686A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,653,549 (GRCm39) I33V unknown Het
Abca1 ACGTCTTCACCAGGTAATC AC 4: 53,061,509 (GRCm39) probably null Het
Amotl2 T C 9: 102,597,753 (GRCm39) S171P probably benign Het
Armh4 T A 14: 50,005,940 (GRCm39) E585V probably damaging Het
Atf6 A T 1: 170,682,710 (GRCm39) V34E probably benign Het
Atrip T A 9: 108,900,935 (GRCm39) I135F probably damaging Het
Bglap A G 3: 88,290,971 (GRCm39) Y87H probably damaging Het
Camk2n1 G A 4: 138,184,094 (GRCm39) V78I possibly damaging Het
Ccdc92b A G 11: 74,520,835 (GRCm39) I46V probably benign Het
Cdc14b T C 13: 64,367,704 (GRCm39) Y208C probably damaging Het
Cdc42bpb C T 12: 111,265,567 (GRCm39) R1455Q probably damaging Het
Cep170 C A 1: 176,621,100 (GRCm39) G26* probably null Het
Cfap46 A G 7: 139,259,819 (GRCm39) F217S probably damaging Het
Col11a2 A T 17: 34,278,142 (GRCm39) D691V probably damaging Het
Col7a1 G A 9: 108,789,078 (GRCm39) V798I unknown Het
Coq8b CGCA CGCAGCA 7: 26,933,405 (GRCm39) probably benign Het
Coq8b GCA GCAACA 7: 26,933,406 (GRCm39) probably benign Het
Dcaf5 T C 12: 80,385,468 (GRCm39) D886G probably benign Het
Ern1 A G 11: 106,312,776 (GRCm39) S202P probably damaging Het
Etaa1 A G 11: 17,897,233 (GRCm39) C295R probably damaging Het
Ghdc C T 11: 100,660,031 (GRCm39) A239T probably benign Het
Grik4 T C 9: 42,432,300 (GRCm39) D899G possibly damaging Het
Hacd2 C A 16: 34,922,354 (GRCm39) T181K possibly damaging Het
Havcr2 T C 11: 46,345,877 (GRCm39) L17P unknown Het
Hyal3 T C 9: 107,462,671 (GRCm39) L235P probably damaging Het
Itgb4 C T 11: 115,884,279 (GRCm39) Q988* probably null Het
Itprid2 T C 2: 79,492,996 (GRCm39) V1181A probably benign Het
Krt32 T A 11: 99,975,670 (GRCm39) probably null Het
Krt33a T C 11: 99,903,535 (GRCm39) N199S probably benign Het
Lama1 T A 17: 68,052,848 (GRCm39) S394T probably benign Het
Lamp1 T C 8: 13,222,545 (GRCm39) V243A probably benign Het
Loxhd1 A G 18: 77,492,504 (GRCm39) Y1315C probably damaging Het
Macf1 A T 4: 123,384,453 (GRCm39) L1148* probably null Het
Mill2 A G 7: 18,575,419 (GRCm39) H42R probably benign Het
Myo15a T C 11: 60,392,909 (GRCm39) F2194L probably damaging Het
Myo15b A T 11: 115,769,224 (GRCm39) I1472F probably damaging Het
Nasp T C 4: 116,479,965 (GRCm39) S36G possibly damaging Het
Nav2 A G 7: 49,114,620 (GRCm39) Y868C probably damaging Het
Niban1 T C 1: 151,571,979 (GRCm39) I308T probably damaging Het
Nono T C X: 100,485,429 (GRCm39) probably null Het
Npc1l1 T A 11: 6,164,588 (GRCm39) I1154F possibly damaging Het
Npc1l1 C T 11: 6,175,199 (GRCm39) W592* probably null Het
Nsg2 T C 11: 32,005,068 (GRCm39) V90A probably damaging Het
Odf4 T C 11: 68,812,983 (GRCm39) N225S possibly damaging Het
Oosp2 C T 19: 11,626,959 (GRCm39) probably null Het
Or1j12 T C 2: 36,343,043 (GRCm39) W149R probably damaging Het
Or4c123 T C 2: 89,127,128 (GRCm39) Y162C probably damaging Het
Pcdhb4 A T 18: 37,441,921 (GRCm39) R410S probably damaging Het
Pde6c T A 19: 38,145,967 (GRCm39) D418E probably damaging Het
Pik3ap1 A T 19: 41,262,776 (GRCm39) S799T probably benign Het
Pitx2 A G 3: 129,012,185 (GRCm39) N198S probably damaging Het
Psmb3 T C 11: 97,601,981 (GRCm39) F117S probably benign Het
Ptprq A T 10: 107,418,249 (GRCm39) M1709K probably benign Het
Recql5 G A 11: 115,819,123 (GRCm39) R148* probably null Het
Reep3 A G 10: 66,871,678 (GRCm39) S97P probably damaging Het
Rnase12 T A 14: 51,294,463 (GRCm39) Q72L possibly damaging Het
Scd3 T C 19: 44,224,219 (GRCm39) Y151H probably benign Het
Scn10a A T 9: 119,520,520 (GRCm39) S127T possibly damaging Het
Scn7a A T 2: 66,506,324 (GRCm39) W1522R probably damaging Het
Senp7 A G 16: 55,944,309 (GRCm39) H211R probably damaging Het
Septin10 C T 10: 59,016,841 (GRCm39) probably null Het
Serpinb6d T C 13: 33,851,663 (GRCm39) V140A possibly damaging Het
Sned1 A G 1: 93,198,960 (GRCm39) E457G probably benign Het
Spag17 A C 3: 99,847,298 (GRCm39) M76L probably benign Het
Spata31e2 C A 1: 26,721,395 (GRCm39) V1262F probably benign Het
Spata31e3 C T 13: 50,399,527 (GRCm39) G933E probably damaging Het
Sspo A T 6: 48,466,707 (GRCm39) E105V possibly damaging Het
Stoml3 T A 3: 53,412,866 (GRCm39) D173E possibly damaging Het
Sun3 T C 11: 8,988,296 (GRCm39) I9V probably benign Het
Svil T C 18: 5,117,059 (GRCm39) W2165R probably damaging Het
Tbl2 T A 5: 135,186,454 (GRCm39) S184T possibly damaging Het
Tdrd7 A T 4: 45,965,474 (GRCm39) T31S probably benign Het
Tmeff1 A G 4: 48,614,960 (GRCm39) N139S possibly damaging Het
Trip13 T C 13: 74,076,043 (GRCm39) R199G probably damaging Het
Tshb G T 3: 102,684,831 (GRCm39) Y124* probably null Het
Ttn T C 2: 76,560,366 (GRCm39) E29345G probably damaging Het
Usp33 T A 3: 152,085,223 (GRCm39) S620T probably benign Het
Vipr1 G A 9: 121,497,540 (GRCm39) G353R probably damaging Het
Vipr1 G T 9: 121,497,541 (GRCm39) G353V probably damaging Het
Vps13c A T 9: 67,793,558 (GRCm39) D437V probably damaging Het
Ylpm1 T A 12: 85,062,192 (GRCm39) S240T probably damaging Het
Zfp772 A G 7: 7,206,629 (GRCm39) I354T probably benign Het
Zfp959 T A 17: 56,204,231 (GRCm39) Y86* probably null 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
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'- GCTAACCTTCTTGAGTCCATATTAG -3'
(R):5'- AGCTCTGCTTGCTGCCATATG -3'

Sequencing Primer
(F):5'- AGCCATTTCTGGTGCTTC -3'
(R):5'- GCTGCCATATGCTTATAAGGTACTG -3'
Posted On 2014-08-01