Incidental Mutation 'R4798:Herc6'
ID 369208
Institutional Source Beutler Lab
Gene Symbol Herc6
Ensembl Gene ENSMUSG00000029798
Gene Name hect domain and RLD 6
Synonyms Herc5, 2510038N07Rik, 4930427L17Rik, 1700121D12Rik, CEB1
MMRRC Submission 042422-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4798 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 57557985-57641617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57581151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 284 (I284F)
Ref Sequence ENSEMBL: ENSMUSP00000031817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031817]
AlphaFold F2Z461
Predicted Effect probably damaging
Transcript: ENSMUST00000031817
AA Change: I284F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: I284F

DomainStartEndE-ValueType
Pfam:RCC1 40 89 1.9e-12 PFAM
Pfam:RCC1 92 142 4.8e-17 PFAM
Pfam:RCC1_2 129 158 3.4e-14 PFAM
Pfam:RCC1 145 195 1.6e-18 PFAM
Pfam:RCC1_2 183 211 1e-8 PFAM
Pfam:RCC1 198 250 2e-10 PFAM
Pfam:RCC1_2 237 266 4e-10 PFAM
Pfam:RCC1 253 301 4.8e-9 PFAM
low complexity region 359 373 N/A INTRINSIC
low complexity region 611 626 N/A INTRINSIC
HECTc 677 1003 1.03e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204843
Meta Mutation Damage Score 0.2600 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (111/114)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,843 (GRCm39) W1083R possibly damaging Het
Adamts10 T A 17: 33,747,726 (GRCm39) L54Q probably damaging Het
Ankrd24 A C 10: 81,479,149 (GRCm39) probably benign Het
Atg2b A G 12: 105,618,888 (GRCm39) S813P probably benign Het
Atp13a3 T A 16: 30,160,058 (GRCm39) I716F probably damaging Het
Atp6v1c1 T A 15: 38,689,420 (GRCm39) W294R probably damaging Het
Atrnl1 G T 19: 58,030,793 (GRCm39) A1312S probably benign Het
Bcl2 A T 1: 106,640,338 (GRCm39) H91Q possibly damaging Het
Cacna1c G A 6: 118,607,263 (GRCm39) Q1214* probably null Het
Cacna1g C A 11: 94,324,673 (GRCm39) G1183W probably damaging Het
Capsl A T 15: 9,461,828 (GRCm39) M75L probably benign Het
Ccdc122 T G 14: 77,349,047 (GRCm39) probably benign Het
Ccdc57 T G 11: 120,772,683 (GRCm39) R645S possibly damaging Het
Cdh8 T A 8: 99,751,558 (GRCm39) R720* probably null Het
Cenpx T G 11: 120,602,610 (GRCm39) probably benign Het
Clic3 T C 2: 25,348,194 (GRCm39) S114P probably damaging Het
Cracdl A T 1: 37,664,046 (GRCm39) D617E probably benign Het
Crtac1 A T 19: 42,312,240 (GRCm39) W158R possibly damaging Het
Dennd2b C T 7: 109,156,240 (GRCm39) G170D probably damaging Het
Dhrs11 T A 11: 84,719,626 (GRCm39) Q33L probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dpp9 G T 17: 56,498,016 (GRCm39) Q647K probably damaging Het
Egf C T 3: 129,510,327 (GRCm39) G64D probably damaging Het
Eif2b4 C T 5: 31,346,864 (GRCm39) probably benign Het
Epas1 A G 17: 87,113,267 (GRCm39) N151S probably benign Het
Fastkd1 A T 2: 69,521,651 (GRCm39) I707K probably benign Het
Fbln2 A G 6: 91,246,168 (GRCm39) T1005A probably benign Het
Fgfrl1 T A 5: 108,851,363 (GRCm39) Y93* probably null Het
Fktn A G 4: 53,744,637 (GRCm39) T306A probably benign Het
Gabbr2 T G 4: 46,991,139 (GRCm39) Y96S possibly damaging Het
Gm16332 A T 1: 139,819,396 (GRCm39) noncoding transcript Het
Gm5145 G T 17: 20,790,810 (GRCm39) V63F probably damaging Het
Gm9970 G T 5: 31,398,429 (GRCm39) probably benign Het
Gpr158 A G 2: 21,787,993 (GRCm39) T545A probably damaging Het
Heatr1 G A 13: 12,426,929 (GRCm39) E685K probably benign Het
Hook1 C G 4: 95,890,794 (GRCm39) A301G possibly damaging Het
Hpcal4 T A 4: 123,084,491 (GRCm39) M140K possibly damaging Het
Il11ra1 T C 4: 41,766,096 (GRCm39) probably benign Het
Ildr1 A T 16: 36,542,917 (GRCm39) H439L possibly damaging Het
Itga11 A G 9: 62,684,009 (GRCm39) probably null Het
Jag2 A T 12: 112,880,252 (GRCm39) D337E probably benign Het
Krt82 C T 15: 101,458,923 (GRCm39) R39Q probably benign Het
L3mbtl4 T A 17: 68,666,475 (GRCm39) M1K probably null Het
Lrrc32 T G 7: 98,148,224 (GRCm39) F335V probably damaging Het
Lurap1l T A 4: 80,829,650 (GRCm39) V20E probably damaging Het
Lyar T A 5: 38,385,230 (GRCm39) V90D possibly damaging Het
Man2c1 C T 9: 57,048,469 (GRCm39) R778* probably null Het
Mapk6 A G 9: 75,295,714 (GRCm39) F595L probably benign Het
Mccc1 A G 3: 36,039,150 (GRCm39) I281T probably damaging Het
Mep1b T C 18: 21,226,311 (GRCm39) V391A probably damaging Het
Mier1 G A 4: 102,988,195 (GRCm39) D40N probably damaging Het
Mkx T C 18: 7,002,432 (GRCm39) H38R probably benign Het
Mroh4 A G 15: 74,498,028 (GRCm39) L184P probably damaging Het
Muc2 C A 7: 141,307,877 (GRCm39) N834K probably benign Het
Mycl A G 4: 122,894,049 (GRCm39) D283G probably damaging Het
Myh6 T C 14: 55,190,750 (GRCm39) N975S probably damaging Het
Myl12a A G 17: 71,303,297 (GRCm39) probably benign Het
Mysm1 T C 4: 94,853,910 (GRCm39) T230A probably benign Het
Naca A G 10: 127,883,672 (GRCm39) K2099R probably null Het
Nbeal1 T G 1: 60,261,352 (GRCm39) probably null Het
Nedd1 A G 10: 92,534,772 (GRCm39) V246A probably benign Het
Nid2 A G 14: 19,839,829 (GRCm39) D806G probably benign Het
Ninl G A 2: 150,801,801 (GRCm39) R156* probably null Het
Obscn T A 11: 58,960,685 (GRCm39) I3418F probably damaging Het
Or8g37 T A 9: 39,731,193 (GRCm39) V86E probably benign Het
Pappa2 T C 1: 158,684,949 (GRCm39) N730S probably damaging Het
Pcm1 G A 8: 41,746,715 (GRCm39) D1305N probably damaging Het
Pcsk4 A T 10: 80,158,938 (GRCm39) I485N probably damaging Het
Phldb2 T C 16: 45,646,237 (GRCm39) R111G probably damaging Het
Prdm10 T C 9: 31,252,569 (GRCm39) F385S probably damaging Het
Prkcsh C T 9: 21,923,034 (GRCm39) P351L probably damaging Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Rad51c T C 11: 87,286,204 (GRCm39) D251G probably damaging Het
Radil A G 5: 142,470,918 (GRCm39) F1088L probably benign Het
Rere C A 4: 150,699,624 (GRCm39) probably benign Het
Rnf167 T A 11: 70,540,961 (GRCm39) C196S probably benign Het
Robo2 T A 16: 74,149,633 (GRCm39) Y65F probably damaging Het
Scarf2 G A 16: 17,621,371 (GRCm39) C319Y probably damaging Het
Sec24c A G 14: 20,743,780 (GRCm39) D995G probably damaging Het
Selenbp1 T C 3: 94,851,211 (GRCm39) L369S probably benign Het
Sgpl1 A T 10: 60,959,123 (GRCm39) I53K possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc1a6 A T 10: 78,635,952 (GRCm39) Y339F probably damaging Het
Smchd1 G T 17: 71,667,048 (GRCm39) Y1781* probably null Het
Smg1 T C 7: 117,779,697 (GRCm39) S1233G probably benign Het
Snap91 A T 9: 86,665,507 (GRCm39) probably benign Het
Snx29 T A 16: 11,238,600 (GRCm39) L112Q probably damaging Het
Sptbn5 T C 2: 119,889,622 (GRCm39) probably benign Het
Srl A T 16: 4,310,222 (GRCm39) H502Q possibly damaging Het
St8sia3 A G 18: 64,404,820 (GRCm39) M366V probably benign Het
Stk19 A T 17: 35,041,485 (GRCm39) probably benign Het
Syngap1 G A 17: 27,180,423 (GRCm39) A611T probably benign Het
Tas2r113 A G 6: 132,870,670 (GRCm39) T233A possibly damaging Het
Tbcc G A 17: 47,202,145 (GRCm39) W177* probably null Het
Tcstv3 T A 13: 120,779,618 (GRCm39) probably null Het
Trav13-5 T A 14: 54,033,408 (GRCm39) C106S probably damaging Het
Trmt61a G A 12: 111,645,147 (GRCm39) V28M possibly damaging Het
Ubap2l G A 3: 89,928,210 (GRCm39) T553M probably damaging Het
Urb1 T C 16: 90,554,715 (GRCm39) N1839S probably benign Het
Ush2a T C 1: 188,475,742 (GRCm39) L2893P probably damaging Het
Usp24 G A 4: 106,217,359 (GRCm39) V421M possibly damaging Het
Vmn1r43 T C 6: 89,846,892 (GRCm39) E198G probably benign Het
Vps13d A C 4: 144,904,626 (GRCm39) S130A probably damaging Het
Zfp426 T A 9: 20,382,310 (GRCm39) I211F probably benign Het
Znfx1 T C 2: 166,880,489 (GRCm39) probably null Het
Other mutations in Herc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Herc6 APN 6 57,584,130 (GRCm39) missense probably benign 0.03
IGL00836:Herc6 APN 6 57,596,534 (GRCm39) missense probably damaging 0.98
IGL01289:Herc6 APN 6 57,575,608 (GRCm39) missense probably damaging 1.00
IGL01631:Herc6 APN 6 57,581,092 (GRCm39) missense probably benign 0.03
IGL02656:Herc6 APN 6 57,588,821 (GRCm39) critical splice donor site probably null
IGL02966:Herc6 APN 6 57,560,318 (GRCm39) critical splice donor site probably null
IGL03297:Herc6 APN 6 57,639,374 (GRCm39) missense probably benign 0.03
IGL02835:Herc6 UTSW 6 57,623,146 (GRCm39) missense possibly damaging 0.94
R0218:Herc6 UTSW 6 57,596,586 (GRCm39) missense probably benign 0.00
R0470:Herc6 UTSW 6 57,596,437 (GRCm39) missense probably damaging 1.00
R0699:Herc6 UTSW 6 57,558,092 (GRCm39) missense probably damaging 1.00
R0702:Herc6 UTSW 6 57,558,092 (GRCm39) missense probably damaging 1.00
R0707:Herc6 UTSW 6 57,639,347 (GRCm39) missense possibly damaging 0.81
R0850:Herc6 UTSW 6 57,560,227 (GRCm39) missense possibly damaging 0.84
R1067:Herc6 UTSW 6 57,639,204 (GRCm39) missense probably damaging 1.00
R1740:Herc6 UTSW 6 57,629,050 (GRCm39) missense probably benign
R1840:Herc6 UTSW 6 57,635,091 (GRCm39) nonsense probably null
R1889:Herc6 UTSW 6 57,639,060 (GRCm39) nonsense probably null
R1938:Herc6 UTSW 6 57,602,926 (GRCm39) missense probably damaging 1.00
R2024:Herc6 UTSW 6 57,560,317 (GRCm39) missense probably benign 0.04
R2051:Herc6 UTSW 6 57,602,961 (GRCm39) missense probably benign 0.00
R2238:Herc6 UTSW 6 57,631,386 (GRCm39) missense probably benign 0.05
R2244:Herc6 UTSW 6 57,575,602 (GRCm39) nonsense probably null
R4085:Herc6 UTSW 6 57,624,054 (GRCm39) missense probably benign 0.09
R4410:Herc6 UTSW 6 57,636,664 (GRCm39) missense possibly damaging 0.82
R4490:Herc6 UTSW 6 57,631,480 (GRCm39) missense probably damaging 1.00
R4599:Herc6 UTSW 6 57,636,698 (GRCm39) missense probably benign 0.34
R4716:Herc6 UTSW 6 57,575,423 (GRCm39) missense probably damaging 1.00
R4757:Herc6 UTSW 6 57,577,045 (GRCm39) critical splice donor site probably null
R4761:Herc6 UTSW 6 57,639,885 (GRCm39) missense probably benign 0.01
R4826:Herc6 UTSW 6 57,624,072 (GRCm39) missense probably benign 0.00
R5520:Herc6 UTSW 6 57,624,105 (GRCm39) missense possibly damaging 0.51
R5545:Herc6 UTSW 6 57,634,992 (GRCm39) critical splice acceptor site probably null
R5664:Herc6 UTSW 6 57,595,669 (GRCm39) missense probably benign
R5763:Herc6 UTSW 6 57,639,872 (GRCm39) missense probably damaging 1.00
R5916:Herc6 UTSW 6 57,623,188 (GRCm39) missense probably benign
R6115:Herc6 UTSW 6 57,560,191 (GRCm39) missense probably benign 0.01
R6225:Herc6 UTSW 6 57,639,139 (GRCm39) missense possibly damaging 0.50
R7287:Herc6 UTSW 6 57,628,965 (GRCm39) splice site probably null
R7319:Herc6 UTSW 6 57,581,074 (GRCm39) missense probably damaging 1.00
R7375:Herc6 UTSW 6 57,628,791 (GRCm39) splice site probably null
R7480:Herc6 UTSW 6 57,558,206 (GRCm39) missense possibly damaging 0.66
R7485:Herc6 UTSW 6 57,558,089 (GRCm39) missense probably benign 0.00
R7670:Herc6 UTSW 6 57,637,107 (GRCm39) missense probably damaging 1.00
R7740:Herc6 UTSW 6 57,636,802 (GRCm39) splice site probably null
R7914:Herc6 UTSW 6 57,584,106 (GRCm39) missense probably benign 0.03
R8356:Herc6 UTSW 6 57,575,548 (GRCm39) missense probably benign 0.02
R8403:Herc6 UTSW 6 57,560,191 (GRCm39) missense probably benign 0.01
R8456:Herc6 UTSW 6 57,575,548 (GRCm39) missense probably benign 0.02
R8473:Herc6 UTSW 6 57,624,099 (GRCm39) missense probably damaging 0.99
R8696:Herc6 UTSW 6 57,624,134 (GRCm39) missense probably benign 0.00
R8751:Herc6 UTSW 6 57,639,359 (GRCm39) missense probably damaging 1.00
R9023:Herc6 UTSW 6 57,595,612 (GRCm39) missense probably benign 0.01
R9112:Herc6 UTSW 6 57,596,604 (GRCm39) missense probably damaging 1.00
R9176:Herc6 UTSW 6 57,636,663 (GRCm39) missense probably benign 0.01
R9210:Herc6 UTSW 6 57,639,350 (GRCm39) missense probably damaging 1.00
R9390:Herc6 UTSW 6 57,602,955 (GRCm39) nonsense probably null
R9427:Herc6 UTSW 6 57,636,722 (GRCm39) missense probably damaging 1.00
R9530:Herc6 UTSW 6 57,602,899 (GRCm39) nonsense probably null
R9581:Herc6 UTSW 6 57,635,101 (GRCm39) missense probably damaging 1.00
R9612:Herc6 UTSW 6 57,629,017 (GRCm39) missense probably benign
Z1176:Herc6 UTSW 6 57,577,016 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATGAGGTTAATTAGTCTCATCAAC -3'
(R):5'- AAGGCAGTCTATATGTAGTAAGCTTC -3'

Sequencing Primer
(F):5'- ATTTCTTAAACAGGAGGGAC -3'
(R):5'- AAGCAGAGCCATGTGTT -3'
Posted On 2016-02-04