Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03297:Herc6'

416106

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 #

IGL03297

Quality Score

Status

Chromosome

Chromosomal Location

57557985-57641617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57639374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 914 (L914Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031817]

AlphaFold

F2Z461

Predicted Effect

probably benign
Transcript: ENSMUST00000031817
AA Change: L914Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: L914Q

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,341,663 (GRCm39)	G1624S	probably damaging	Het
Adhfe1	A	G	1: 9,620,173 (GRCm39)		probably benign	Het
Ano6	C	A	15: 95,860,158 (GRCm39)	T760N	probably damaging	Het
Camsap2	T	C	1: 136,225,539 (GRCm39)	M196V	probably benign	Het
Cd209d	T	C	8: 3,928,476 (GRCm39)	D3G	possibly damaging	Het
Cdh5	T	A	8: 104,854,831 (GRCm39)	F253Y	probably damaging	Het
Cnot10	T	C	9: 114,427,784 (GRCm39)	E610G	possibly damaging	Het
Cnot4	T	C	6: 35,001,158 (GRCm39)	N579S	probably benign	Het
Csmd1	G	T	8: 16,059,432 (GRCm39)	S2101*	probably null	Het
Dgkq	C	A	5: 108,798,140 (GRCm39)	R706L	probably damaging	Het
Gm5422	T	C	10: 31,125,727 (GRCm39)		noncoding transcript	Het
Gpr34	A	G	X: 13,505,681 (GRCm39)	Y70C	probably damaging	Het
Ifitm6	T	C	7: 140,595,948 (GRCm39)	Y115C	probably damaging	Het
Iqcg	G	T	16: 32,856,002 (GRCm39)		probably benign	Het
Myo15a	A	G	11: 60,369,967 (GRCm39)	D909G	probably damaging	Het
Nefl	A	G	14: 68,321,673 (GRCm39)	T88A	possibly damaging	Het
Nfatc2	T	A	2: 168,378,138 (GRCm39)	N509I	probably damaging	Het
Nkd1	T	C	8: 89,300,902 (GRCm39)		probably benign	Het
Npas2	T	C	1: 39,331,771 (GRCm39)	V62A	possibly damaging	Het
Oas2	T	G	5: 120,873,150 (GRCm39)	D635A	possibly damaging	Het
Obscn	C	T	11: 58,951,712 (GRCm39)	V4014M	possibly damaging	Het
Ogfr	C	A	2: 180,236,200 (GRCm39)	H262N	possibly damaging	Het
Or10aa1	T	G	1: 173,869,683 (GRCm39)	S56A	probably benign	Het
Or8b49	A	T	9: 38,505,821 (GRCm39)	L101F	probably benign	Het
Pa2g4	T	C	10: 128,399,105 (GRCm39)	D104G	probably damaging	Het
Parp11	T	C	6: 127,467,045 (GRCm39)		probably benign	Het
Ppp2r5a	C	T	1: 191,086,959 (GRCm39)	V360I	probably benign	Het
Ptpn13	A	T	5: 103,688,943 (GRCm39)	K912I	probably benign	Het
Sec16a	A	G	2: 26,329,202 (GRCm39)	S938P	probably benign	Het
Slc15a1	A	C	14: 121,724,096 (GRCm39)	I170S	probably damaging	Het
Smchd1	T	C	17: 71,656,695 (GRCm39)	N1924S	probably benign	Het
Sprr4	G	A	3: 92,407,731 (GRCm39)	P24S	unknown	Het
Trim30b	A	T	7: 104,015,102 (GRCm39)	N95K	probably benign	Het
Tyw1	C	T	5: 130,369,575 (GRCm39)	A687V	probably damaging	Het
Vmn2r14	T	A	5: 109,363,973 (GRCm39)	I648F	probably damaging	Het
Vmn2r78	T	A	7: 86,569,969 (GRCm39)	C162*	probably null	Het

Other mutations in Herc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02