Incidental Mutation 'R5664:Herc6'
ID 444255
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 043307-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5664 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 57557985-57641617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57595669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 449 (T449K)
Ref Sequence ENSEMBL: ENSMUSP00000031817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031817]
AlphaFold F2Z461
Predicted Effect probably benign
Transcript: ENSMUST00000031817
AA Change: T449K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: T449K

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: ENSMUST00000204166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204843
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,977 (GRCm39) probably null Het
9430015G10Rik T A 4: 156,208,016 (GRCm39) L112H probably damaging Het
Acaca T C 11: 84,134,210 (GRCm39) L441P probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arsj A T 3: 126,232,306 (GRCm39) I351F probably damaging Het
Atp6v1b2 A G 8: 69,560,272 (GRCm39) T373A probably damaging Het
Atr C A 9: 95,787,866 (GRCm39) N1486K probably benign Het
Avl9 T C 6: 56,730,824 (GRCm39) S583P probably damaging Het
Bptf A T 11: 106,964,525 (GRCm39) D1493E probably benign Het
Brme1 A T 8: 84,893,288 (GRCm39) I152F probably benign Het
C2cd2l T C 9: 44,225,069 (GRCm39) E548G probably damaging Het
Capn3 G A 2: 120,307,506 (GRCm39) R15Q probably benign Het
Ccl3 A G 11: 83,540,039 (GRCm39) F22S probably benign Het
Clcf1 T C 19: 4,272,150 (GRCm39) F69S probably damaging Het
Col13a1 T C 10: 61,686,895 (GRCm39) E170G probably damaging Het
Dhx29 T A 13: 113,083,413 (GRCm39) F489L probably damaging Het
Dhx8 A T 11: 101,631,577 (GRCm39) N390I probably damaging Het
Dkk1 T A 19: 30,526,189 (GRCm39) Y135F probably benign Het
Edil3 G T 13: 89,467,832 (GRCm39) V446F probably damaging Het
Epha5 T A 5: 84,479,725 (GRCm39) E93V probably damaging Het
Epsti1 C T 14: 78,201,104 (GRCm39) T196I possibly damaging Het
Fras1 T C 5: 96,876,394 (GRCm39) S2376P possibly damaging Het
Frem2 A G 3: 53,559,911 (GRCm39) V1532A probably benign Het
Fsip2 T A 2: 82,818,439 (GRCm39) M4724K probably benign Het
Gcat T A 15: 78,927,273 (GRCm39) L238Q probably damaging Het
Gimap6 T C 6: 48,679,209 (GRCm39) K276E probably benign Het
Gjb5 T A 4: 127,249,722 (GRCm39) I141F probably benign Het
Glt6d1 T C 2: 25,704,192 (GRCm39) I7V probably benign Het
Gtf2h5 G A 17: 6,134,799 (GRCm39) G30R probably damaging Het
Hpn A T 7: 30,798,687 (GRCm39) Y132N probably damaging Het
Hpx A T 7: 105,244,355 (GRCm39) M190K probably benign Het
Inf2 A G 12: 112,578,162 (GRCm39) H1151R unknown Het
Krt74 A G 15: 101,669,014 (GRCm39) noncoding transcript Het
Loxl3 G A 6: 83,026,863 (GRCm39) S564N probably benign Het
Map7 T A 10: 20,143,105 (GRCm39) V418E unknown Het
Mrpl37 T C 4: 106,921,588 (GRCm39) N214D probably benign Het
Mthfr T C 4: 148,139,923 (GRCm39) Y656H probably damaging Het
Myo9b A G 8: 71,812,526 (GRCm39) D2099G probably benign Het
Nktr T A 9: 121,578,483 (GRCm39) C825* probably null Het
Nomo1 A G 7: 45,725,581 (GRCm39) E1029G probably benign Het
Nup133 T C 8: 124,633,020 (GRCm39) D1037G probably benign Het
Or4b12 A G 2: 90,095,959 (GRCm39) F272L probably damaging Het
Or5w22 T C 2: 87,363,178 (GRCm39) L267P probably benign Het
Pcdhb14 T A 18: 37,582,049 (GRCm39) V385D possibly damaging Het
Pik3c2g T C 6: 139,682,733 (GRCm39) L38P probably damaging Het
Pkd1 A T 17: 24,788,345 (GRCm39) D701V probably damaging Het
Pnpla6 A G 8: 3,587,478 (GRCm39) T1070A probably damaging Het
Ppl T C 16: 4,923,919 (GRCm39) D185G probably benign Het
Prp2rt C A 13: 97,235,629 (GRCm39) L39F probably damaging Het
Prss1l C T 6: 41,371,605 (GRCm39) P17L probably benign Het
Prune1 A T 3: 95,165,489 (GRCm39) L261Q probably damaging Het
Qser1 A T 2: 104,608,541 (GRCm39) L1444I probably damaging Het
Serpina6 A C 12: 103,620,726 (GRCm39) C8G probably damaging Het
Sla2 A T 2: 156,716,919 (GRCm39) D180E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Snhg16 A T 11: 116,563,490 (GRCm39) T27S possibly damaging Het
Tbx3 A G 5: 119,816,796 (GRCm39) K311R possibly damaging Het
Tdpoz6 A G 3: 93,599,994 (GRCm39) F125S probably benign Het
Thbs2 A T 17: 14,910,099 (GRCm39) C167S probably damaging Het
Trak1 T A 9: 121,301,373 (GRCm39) C710S possibly damaging Het
Tsks G A 7: 44,603,208 (GRCm39) E337K probably damaging Het
Vcpip1 A G 1: 9,816,604 (GRCm39) I593T probably damaging Het
Vmn2r118 A G 17: 55,899,765 (GRCm39) I713T possibly damaging Het
Vmn2r23 C T 6: 123,690,033 (GRCm39) T303M probably damaging Het
Vmn2r68 A T 7: 84,882,978 (GRCm39) M258K probably benign Het
Vmn2r76 A G 7: 85,895,202 (GRCm39) probably null Het
Wap A G 11: 6,588,609 (GRCm39) I5T possibly damaging Het
Zfp235 A C 7: 23,841,576 (GRCm39) H665P probably damaging 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
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
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'- GTGTGTGCTAAGACAAAGACC -3'
(R):5'- GCTAGAAAGATGCTTCATGTCTC -3'

Sequencing Primer
(F):5'- TGTGTGCTAAGACAAAGACCAAATG -3'
(R):5'- ACCACCTATCACAATGTCTGG -3'
Posted On 2016-11-09