Incidental Mutation 'R1889:Herc6'
ID 209817
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 039910-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1889 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 57557985-57641617 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 57639060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 840 (Y840*)
Ref Sequence ENSEMBL: ENSMUSP00000031817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031817]
AlphaFold F2Z461
Predicted Effect probably null
Transcript: ENSMUST00000031817
AA Change: Y840*
SMART Domains Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: Y840*

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 0.9755 question?
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.2%
  • 10x: 93.6%
  • 20x: 88.0%
Validation Efficiency 97% (103/106)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,034,815 (GRCm39) noncoding transcript Het
9130008F23Rik T C 17: 41,191,193 (GRCm39) R79G probably damaging Het
Aco1 A T 4: 40,164,607 (GRCm39) probably null Het
Acp6 C T 3: 97,073,201 (GRCm39) R81W probably damaging Het
Agbl1 A C 7: 76,239,129 (GRCm39) Y543S probably damaging Het
Anapc7 T C 5: 122,571,539 (GRCm39) W205R probably damaging Het
Ap1g2 T A 14: 55,338,886 (GRCm39) M532L probably damaging Het
Appl1 A G 14: 26,647,470 (GRCm39) probably benign Het
Arhgef19 T C 4: 140,976,624 (GRCm39) F462S probably damaging Het
Astn1 A G 1: 158,332,886 (GRCm39) probably null Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cadm2 T C 16: 66,679,683 (GRCm39) D50G probably damaging Het
Ccdc81 G A 7: 89,531,502 (GRCm39) Q324* probably null Het
Cd300lf A G 11: 115,011,206 (GRCm39) V178A probably benign Het
Cdt1 T C 8: 123,298,791 (GRCm39) V476A possibly damaging Het
Cenpj A G 14: 56,796,182 (GRCm39) V225A probably benign Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Cfap54 A G 10: 92,870,572 (GRCm39) S684P possibly damaging Het
Clip1 C A 5: 123,791,559 (GRCm39) V204F probably damaging Het
Cnpy4 A G 5: 138,191,102 (GRCm39) E226G probably benign Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Cpsf1 T C 15: 76,486,356 (GRCm39) M335V probably benign Het
Dnmt3b C A 2: 153,518,679 (GRCm39) A614E probably benign Het
Dpm1 C T 2: 168,059,655 (GRCm39) R147Q possibly damaging Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Engase T C 11: 118,369,759 (GRCm39) F57S probably damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
Fam20a T C 11: 109,564,380 (GRCm39) K458E probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gkn2 T A 6: 87,355,137 (GRCm39) Y115* probably null Het
Gtdc1 A G 2: 44,481,926 (GRCm39) S246P probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Herc2 C T 7: 55,839,561 (GRCm39) S3357L possibly damaging Het
Hoxa10 GGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTG 6: 52,211,472 (GRCm39) probably benign Het
Ift122 T C 6: 115,871,382 (GRCm39) probably null Het
Ilf3 T A 9: 21,316,063 (GRCm39) probably benign Het
Itgb2 A T 10: 77,384,457 (GRCm39) N193Y possibly damaging Het
Itgb5 T G 16: 33,730,839 (GRCm39) I65S probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Kcnt2 A T 1: 140,512,031 (GRCm39) H995L probably damaging Het
Kif20b T C 19: 34,918,608 (GRCm39) probably benign Het
Kif7 T C 7: 79,360,211 (GRCm39) Y342C probably damaging Het
Klhl21 T C 4: 152,099,877 (GRCm39) V529A possibly damaging Het
Klhl26 T C 8: 70,904,383 (GRCm39) D475G probably damaging Het
Lcor T C 19: 41,547,567 (GRCm39) Y384H probably damaging Het
Lrp1b A T 2: 40,809,179 (GRCm39) C2463* probably null Het
Marchf6 T C 15: 31,459,339 (GRCm39) E909G possibly damaging Het
Mrc1 A T 2: 14,313,488 (GRCm39) probably null Het
Mtrex T C 13: 113,024,024 (GRCm39) N707S probably benign Het
Nipal4 T A 11: 46,041,560 (GRCm39) I212F probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Nwd2 A G 5: 63,965,009 (GRCm39) E1531G possibly damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Opa1 T C 16: 29,444,403 (GRCm39) V863A possibly damaging Het
Or5ac22 T G 16: 59,135,326 (GRCm39) Y148S probably damaging Het
Pabpc4l A T 3: 46,400,798 (GRCm39) M282K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcnx3 T C 19: 5,722,684 (GRCm39) D1336G probably damaging Het
Phlpp1 T C 1: 106,246,580 (GRCm39) V590A possibly damaging Het
Rbck1 T A 2: 152,160,276 (GRCm39) T468S probably damaging Het
Ripor2 T A 13: 24,877,870 (GRCm39) I290N probably damaging Het
Rnf139 T C 15: 58,771,346 (GRCm39) L457P probably damaging Het
Rtn1 C A 12: 72,351,184 (GRCm39) A342S possibly damaging Het
Sema3d A G 5: 12,534,988 (GRCm39) probably null Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Sez6l2 T C 7: 126,552,668 (GRCm39) V148A probably damaging Het
Shank2 C A 7: 143,740,595 (GRCm39) S568* probably null Het
Slc10a4 T C 5: 73,169,490 (GRCm39) S372P possibly damaging Het
Slc10a5 T C 3: 10,400,550 (GRCm39) T37A probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Slc6a20b G T 9: 123,461,269 (GRCm39) D52E probably benign Het
Slc6a5 T C 7: 49,601,182 (GRCm39) M661T probably benign Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Steap4 G T 5: 8,025,892 (GRCm39) R151L probably damaging Het
Sun5 T A 2: 153,707,915 (GRCm39) I107L probably benign Het
Tacc1 C T 8: 25,665,269 (GRCm39) V488M probably damaging Het
Tgs1 A G 4: 3,614,928 (GRCm39) T829A probably benign Het
Tnxb A G 17: 34,914,799 (GRCm39) E1929G probably damaging Het
Tssc4 A C 7: 142,624,292 (GRCm39) Q200P probably damaging Het
Ttn A G 2: 76,588,876 (GRCm39) W21398R probably damaging Het
Usp50 C T 2: 126,619,818 (GRCm39) probably null Het
Usp9y A T Y: 1,448,829 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Zfat T C 15: 67,973,388 (GRCm39) T1118A 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
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
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'- ATACTGTAGAGTCTGAGTCCTTCTC -3'
(R):5'- AAGTTCTAGGAAGGATATGTGTCAG -3'

Sequencing Primer
(F):5'- AGAGTCTGAGTCCTTCTCTTATATTC -3'
(R):5'- AGGATATGTGTCAGTTATTTGGAAAC -3'
Posted On 2014-06-30