Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02656:Herc6'

302358

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Herc6

Ensembl Gene

ENSMUSG00000029798

Gene Name

hect domain and RLD 6

Synonyms

Herc5, 1700121D12Rik, CEB1, 2510038N07Rik, 4930427L17Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

57581000-57664632 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 57611836 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-16