Incidental Mutation 'IGL02835:Herc6'
ID 391969
Institutional Source Beutler Lab
Gene Symbol Herc6
Ensembl Gene ENSMUSG00000029798
Gene Name hect domain and RLD 6
Synonyms Herc5, 2510038N07Rik, 4930427L17Rik, 1700121D12Rik, CEB1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02835 (G1)
Quality Score 176
Status Validated
Chromosome 6
Chromosomal Location 57557985-57641617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57623146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 583 (I583T)
Ref Sequence ENSEMBL: ENSMUSP00000031817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031817]
AlphaFold F2Z461
Predicted Effect possibly damaging
Transcript: ENSMUST00000031817
AA Change: I583T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: I583T

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
Meta Mutation Damage Score 0.7003 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,937,284 (GRCm39) K208* probably null Het
A530016L24Rik A C 12: 112,461,420 (GRCm39) probably null Het
A830018L16Rik A C 1: 12,042,279 (GRCm39) D433A possibly damaging Het
Abca13 T A 11: 9,401,515 (GRCm39) I3985N probably damaging Het
Abhd17c C T 7: 83,800,731 (GRCm39) D108N probably benign Het
Adam29 C T 8: 56,326,173 (GRCm39) D94N probably damaging Het
Agr2 A G 12: 36,045,903 (GRCm39) D50G probably benign Het
Angptl1 A G 1: 156,686,090 (GRCm39) D392G probably benign Het
Apob A G 12: 8,065,097 (GRCm39) N3989S possibly damaging Het
AU018091 T C 7: 3,218,897 (GRCm39) D12G unknown Het
Cyfip2 A T 11: 46,140,598 (GRCm39) S742T probably benign Het
Dlc1 C T 8: 37,051,055 (GRCm39) S892N probably damaging Het
Dsg1b A G 18: 20,525,071 (GRCm39) N169S possibly damaging Het
Egfem1 T C 3: 29,711,390 (GRCm39) L323P probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fjx1 G A 2: 102,281,092 (GRCm39) A281V possibly damaging Het
Fmn2 T A 1: 174,409,625 (GRCm39) D619E unknown Het
Gm4795 A C 10: 44,882,254 (GRCm39) noncoding transcript Het
Gm5117 T C 8: 32,227,198 (GRCm39) noncoding transcript Het
Gm5250 T C 1: 13,132,418 (GRCm39) noncoding transcript Het
Gtdc1 A T 2: 44,646,324 (GRCm39) Y101* probably null Het
Hyal4 G A 6: 24,765,714 (GRCm39) R356H probably benign Het
Il22ra2 C A 10: 19,502,424 (GRCm39) T81K probably benign Het
Iqcm T A 8: 76,281,511 (GRCm39) probably benign Het
Izumo4 G A 10: 80,540,959 (GRCm39) V220I probably benign Het
Kif16b A T 2: 142,554,133 (GRCm39) D899E probably benign Het
Lrp2 A T 2: 69,335,648 (GRCm39) N1358K probably damaging Het
Lrrk2 A G 15: 91,698,863 (GRCm39) probably null Het
Lyst C T 13: 13,835,685 (GRCm39) T1789M possibly damaging Het
Map4k4 A G 1: 40,049,760 (GRCm39) T732A probably damaging Het
Mdh1b A T 1: 63,757,816 (GRCm39) I305N probably damaging Het
Mettl13 A G 1: 162,373,585 (GRCm39) I222T probably damaging Het
Mtcl2 G A 2: 156,883,854 (GRCm39) T363I possibly damaging Het
Muc4 T C 16: 32,584,319 (GRCm39) F2583L probably benign Het
Nbea C T 3: 55,625,290 (GRCm39) R2267Q possibly damaging Het
Ndfip1 T C 18: 38,589,144 (GRCm39) Y178H probably damaging Het
Nin A T 12: 70,103,512 (GRCm39) F243I probably damaging Het
Nlrp10 A T 7: 108,523,869 (GRCm39) I537K possibly damaging Het
Nup155 T C 15: 8,172,614 (GRCm39) Y867H probably damaging Het
Pakap C G 4: 57,883,044 (GRCm39) P837A probably damaging Het
Pik3r4 A C 9: 105,549,905 (GRCm39) I999L probably benign Het
Pitpnm3 G A 11: 71,952,292 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polg2 A T 11: 106,666,266 (GRCm39) V293E probably benign Het
Pramel22 T A 4: 143,380,817 (GRCm39) Y402F probably damaging Het
Prok1 T C 3: 107,144,531 (GRCm39) probably null Het
Ptcd1 T C 5: 145,091,500 (GRCm39) D533G possibly damaging Het
Ptpn13 T C 5: 103,707,891 (GRCm39) V1484A probably damaging Het
Rapgef2 A T 3: 79,000,293 (GRCm39) probably benign Het
Serpinb8 T G 1: 107,530,586 (GRCm39) F121L probably damaging Het
Sh3rf1 T A 8: 61,679,081 (GRCm39) V41E probably damaging Het
Snx13 A G 12: 35,182,126 (GRCm39) N725S possibly damaging Het
Stab1 A T 14: 30,867,981 (GRCm39) probably null Het
Themis A T 10: 28,637,616 (GRCm39) probably benign Het
Trim68 T A 7: 102,327,780 (GRCm39) Y391F probably benign Het
Trmt1 T G 8: 85,423,589 (GRCm39) V327G probably null Het
Vill C T 9: 118,896,513 (GRCm39) T120M probably benign 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
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
R4798:Herc6 UTSW 6 57,581,151 (GRCm39) missense probably damaging 1.00
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'- TTCAGTGAAATATGCTGAGTGAAG -3'
(R):5'- GCAAAGTGTTTAAGTTTTCAATGGC -3'

Sequencing Primer
(F):5'- GCTGAGTGAAGTTTATCCCATTTAG -3'
(R):5'- GTTTTCAATGGCATGCAATTTAGC -3'
Posted On 2016-06-08