Incidental Mutation 'IGL02656:Herc6'
ID302358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Herc6
Ensembl Gene ENSMUSG00000029798
Gene Namehect domain and RLD 6
SynonymsHerc5, 1700121D12Rik, CEB1, 2510038N07Rik, 4930427L17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02656
Quality Score
Status
Chromosome6
Chromosomal Location57581000-57664632 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 57611836 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031817]
Predicted Effect probably null
Transcript: ENSMUST00000031817
SMART Domains Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798

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: ENSMUST00000204166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204843
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
Ankrd28 G T 14: 31,702,240 A981D possibly damaging Het
Ccdc69 G T 11: 55,052,437 Q114K possibly damaging Het
Cct5 A T 15: 31,597,430 D66E probably damaging Het
Ces2e G T 8: 104,927,056 R42I possibly damaging Het
Cib2 T G 9: 54,545,898 D178A probably damaging Het
Cldn7 G A 11: 69,967,008 V97I probably benign Het
Dok3 A T 13: 55,528,480 I12N probably damaging Het
Fndc5 T A 4: 129,139,446 V102E probably damaging Het
Gas2 T C 7: 51,943,744 S191P probably benign Het
Krt18 A G 15: 102,030,922 T277A probably benign Het
Mpp3 A G 11: 102,008,601 S365P probably benign Het
Msmo1 T C 8: 64,727,872 T3A probably benign Het
Olfr1509 G T 14: 52,450,709 A99S possibly damaging Het
Olfr1537 T A 9: 39,238,160 E88V probably benign Het
Olfr394 A G 11: 73,888,039 F111S probably damaging Het
Pex19 C A 1: 172,130,685 A77E probably benign Het
Phf20l1 A G 15: 66,629,827 D620G probably damaging Het
Prr5 A G 15: 84,699,136 D105G probably damaging Het
Rab12 T A 17: 66,506,054 K88M probably damaging Het
Rictor T C 15: 6,776,920 V673A probably damaging Het
Rps26 A G 10: 128,625,257 S88P possibly damaging Het
Sema5a T A 15: 32,631,285 S605T possibly damaging Het
Slc35a4 T C 18: 36,682,447 M110T probably damaging Het
Sowahb T C 5: 93,043,247 S538G probably benign Het
Srrt T A 5: 137,299,676 probably benign Het
Ssbp2 G A 13: 91,669,752 probably benign Het
Supt20 C T 3: 54,708,395 R236W probably damaging Het
Tenm4 A G 7: 96,885,433 D1791G probably damaging Het
Tgm6 G A 2: 130,145,103 G497D probably damaging Het
Trim12c C T 7: 104,341,203 V356I probably damaging Het
Vwce T A 19: 10,664,352 I814K probably benign Het
Other mutations in Herc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Herc6 APN 6 57607145 missense probably benign 0.03
IGL00836:Herc6 APN 6 57619549 missense probably damaging 0.98
IGL01289:Herc6 APN 6 57598623 missense probably damaging 1.00
IGL01631:Herc6 APN 6 57604107 missense probably benign 0.03
IGL02966:Herc6 APN 6 57583333 critical splice donor site probably null
IGL03297:Herc6 APN 6 57662389 missense probably benign 0.03
IGL02835:Herc6 UTSW 6 57646161 missense possibly damaging 0.94
R0218:Herc6 UTSW 6 57619601 missense probably benign 0.00
R0470:Herc6 UTSW 6 57619452 missense probably damaging 1.00
R0699:Herc6 UTSW 6 57581107 missense probably damaging 1.00
R0702:Herc6 UTSW 6 57581107 missense probably damaging 1.00
R0707:Herc6 UTSW 6 57662362 missense possibly damaging 0.81
R0850:Herc6 UTSW 6 57583242 missense possibly damaging 0.84
R1067:Herc6 UTSW 6 57662219 missense probably damaging 1.00
R1740:Herc6 UTSW 6 57652065 missense probably benign
R1840:Herc6 UTSW 6 57658106 nonsense probably null
R1889:Herc6 UTSW 6 57662075 nonsense probably null
R1938:Herc6 UTSW 6 57625941 missense probably damaging 1.00
R2024:Herc6 UTSW 6 57583332 missense probably benign 0.04
R2051:Herc6 UTSW 6 57625976 missense probably benign 0.00
R2238:Herc6 UTSW 6 57654401 missense probably benign 0.05
R2244:Herc6 UTSW 6 57598617 nonsense probably null
R4085:Herc6 UTSW 6 57647069 missense probably benign 0.09
R4410:Herc6 UTSW 6 57659679 missense possibly damaging 0.82
R4490:Herc6 UTSW 6 57654495 missense probably damaging 1.00
R4599:Herc6 UTSW 6 57659713 missense probably benign 0.34
R4716:Herc6 UTSW 6 57598438 missense probably damaging 1.00
R4757:Herc6 UTSW 6 57600060 critical splice donor site probably null
R4761:Herc6 UTSW 6 57662900 missense probably benign 0.01
R4798:Herc6 UTSW 6 57604166 missense probably damaging 1.00
R4826:Herc6 UTSW 6 57647087 missense probably benign 0.00
R5520:Herc6 UTSW 6 57647120 missense possibly damaging 0.51
R5545:Herc6 UTSW 6 57658007 critical splice acceptor site probably null
R5664:Herc6 UTSW 6 57618684 missense probably benign
R5763:Herc6 UTSW 6 57662887 missense probably damaging 1.00
R5916:Herc6 UTSW 6 57646203 missense probably benign
R6115:Herc6 UTSW 6 57583206 missense probably benign 0.01
R6225:Herc6 UTSW 6 57662154 missense possibly damaging 0.50
R7287:Herc6 UTSW 6 57651980 splice site probably null
R7319:Herc6 UTSW 6 57604089 missense probably damaging 1.00
R7375:Herc6 UTSW 6 57651806 splice site probably null
R7480:Herc6 UTSW 6 57581221 missense possibly damaging 0.66
R7485:Herc6 UTSW 6 57581104 missense probably benign 0.00
R7670:Herc6 UTSW 6 57660122 missense probably damaging 1.00
R7740:Herc6 UTSW 6 57659817 splice site probably null
R7914:Herc6 UTSW 6 57607121 missense probably benign 0.03
R8356:Herc6 UTSW 6 57598563 missense probably benign 0.02
R8403:Herc6 UTSW 6 57583206 missense probably benign 0.01
R8456:Herc6 UTSW 6 57598563 missense probably benign 0.02
R8473:Herc6 UTSW 6 57647114 missense probably damaging 0.99
Z1176:Herc6 UTSW 6 57600031 missense probably damaging 1.00
Posted On2015-04-16