Incidental Mutation 'IGL00503:Herc6'
ID332487
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 #IGL00503
Quality Score
Status
Chromosome6
Chromosomal Location57581000-57664632 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57607145 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 330 (N330D)
Ref Sequence ENSEMBL: ENSMUSP00000031817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031817]
Predicted Effect probably benign
Transcript: ENSMUST00000031817
AA Change: N330D

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: N330D

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 68,950,102 R14* probably null Het
Abcb5 A G 12: 118,907,601 S688P probably benign Het
Adgb T A 10: 10,406,099 Q597L possibly damaging Het
Aga G A 8: 53,518,921 V210I probably benign Het
Akap17b A G X: 36,612,310 S515P probably damaging Het
Brinp3 A T 1: 146,901,167 T451S probably benign Het
Cabcoco1 G T 10: 68,541,805 T18N possibly damaging Het
Ccar2 C T 14: 70,142,531 W402* probably null Het
Ccdc15 G A 9: 37,320,473 A185V probably damaging Het
Ccdc50 G A 16: 27,409,352 E90K probably damaging Het
Cckbr G A 7: 105,434,242 M217I probably benign Het
Clec16a A G 16: 10,694,649 T398A possibly damaging Het
Col4a1 A G 8: 11,240,076 probably benign Het
Cyp4v3 T A 8: 45,307,021 E498V probably damaging Het
Dgke T C 11: 89,041,501 I488V probably benign Het
Dip2c A G 13: 9,567,898 D443G probably damaging Het
Edem3 T G 1: 151,818,513 S852A probably benign Het
Fbxo8 T A 8: 56,588,023 M158K probably benign Het
Galnt15 C T 14: 32,052,356 T359M possibly damaging Het
Kdf1 T C 4: 133,528,157 S62P probably damaging Het
Larp4 T A 15: 99,987,421 I51N probably damaging Het
Mfsd6l T A 11: 68,556,473 I50N probably damaging Het
Mroh2b A G 15: 4,899,197 Y4C probably benign Het
Muc3 G T 5: 137,137,123 Y343* probably null Het
Myom2 A C 8: 15,114,289 probably null Het
Npat A T 9: 53,572,649 probably benign Het
Pamr1 A T 2: 102,642,272 I639F possibly damaging Het
Pcsk2 A G 2: 143,793,239 S345G probably damaging Het
Pcyt1a A G 16: 32,467,101 T197A probably damaging Het
Pkd1 A G 17: 24,565,427 M316V probably benign Het
Plekhs1 T C 19: 56,464,599 probably null Het
Sema3e G T 5: 14,240,572 R557M probably damaging Het
Sgsm1 T C 5: 113,276,142 N154S probably benign Het
Smg1 A T 7: 118,185,483 probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spats1 A T 17: 45,454,085 probably null Het
Tnfaip6 T G 2: 52,055,847 V235G probably damaging Het
Trim34a A T 7: 104,261,331 T447S probably damaging Het
Tut1 G A 19: 8,959,096 A95T probably damaging Het
Urgcp C T 11: 5,716,448 R630Q possibly damaging Het
Vmn1r125 G T 7: 21,272,181 M1I probably null Het
Vmn2r99 A G 17: 19,378,854 T267A probably benign Het
Wdr5 A G 2: 27,520,867 K162E probably benign Het
Zscan26 T G 13: 21,445,101 K285Q probably damaging Het
Other mutations in Herc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02656:Herc6 APN 6 57611836 critical splice donor site probably null
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
Z1176:Herc6 UTSW 6 57600031 missense probably damaging 1.00
Posted On2015-08-05