Incidental Mutation 'IGL01289:Herc6'
ID 72861
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01289
Quality Score
Status
Chromosome 6
Chromosomal Location 57557985-57641617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57575608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 210 (G210R)
Ref Sequence ENSEMBL: ENSMUSP00000031817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031817]
AlphaFold F2Z461
Predicted Effect probably damaging
Transcript: ENSMUST00000031817
AA Change: G210R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: G210R

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: ENSMUST00000204686
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,350 (GRCm39) M289L probably benign Het
Actg2 A T 6: 83,500,157 (GRCm39) M38K probably damaging Het
Atp8a2 G A 14: 59,928,910 (GRCm39) A1048V probably benign Het
Cables1 T C 18: 12,077,621 (GRCm39) V583A probably damaging Het
Ccng2 A G 5: 93,421,276 (GRCm39) K262R probably null Het
Cfap206 C A 4: 34,716,469 (GRCm39) S332I probably null Het
Dscam A T 16: 96,445,082 (GRCm39) Y1536* probably null Het
Fam136b-ps T A 15: 31,277,010 (GRCm39) probably benign Het
Fga A G 3: 82,938,552 (GRCm39) Y309C possibly damaging Het
Fgd4 A T 16: 16,302,167 (GRCm39) N129K probably damaging Het
Gbp8 G A 5: 105,165,735 (GRCm39) A306V probably benign Het
Hecw1 T C 13: 14,438,719 (GRCm39) Y888C probably damaging Het
Ints7 G A 1: 191,347,890 (GRCm39) R754H probably benign Het
Itga1 T C 13: 115,122,762 (GRCm39) I731M possibly damaging Het
Itpr2 T A 6: 146,014,033 (GRCm39) K2588* probably null Het
Itpr3 T A 17: 27,318,739 (GRCm39) M965K probably damaging Het
Kif22 A G 7: 126,632,645 (GRCm39) V247A probably damaging Het
Lrrc17 T C 5: 21,765,899 (GRCm39) F127S probably damaging Het
Lrriq4 T A 3: 30,704,542 (GRCm39) L190Q probably damaging Het
Mcee T A 7: 64,050,066 (GRCm39) F66I probably damaging Het
Med23 T C 10: 24,778,019 (GRCm39) F789S probably damaging Het
Nmd3 T G 3: 69,631,620 (GRCm39) S25R possibly damaging Het
Npy5r T A 8: 67,134,518 (GRCm39) N92Y possibly damaging Het
Or4a69 A G 2: 89,313,191 (GRCm39) M96T probably benign Het
Rnf224 G T 2: 25,126,259 (GRCm39) D31E possibly damaging Het
Timd2 T C 11: 46,570,499 (GRCm39) E192G probably benign Het
Ttll13 T A 7: 79,910,187 (GRCm39) C777S probably benign Het
Tubgcp3 A G 8: 12,689,625 (GRCm39) L547P probably damaging Het
Usp47 G T 7: 111,662,565 (GRCm39) V236F probably damaging Het
Xirp2 A T 2: 67,343,525 (GRCm39) N1922I probably damaging Het
Zdhhc24 G T 19: 4,928,850 (GRCm39) W25L 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
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
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
Posted On 2013-10-07