Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Herc6'

345433

Institutional Source

Beutler Lab

Gene Symbol

Herc6

Ensembl Gene

ENSMUSG00000029798

Gene Name

hect domain and RLD 6

Synonyms

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

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57581000-57664632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57659713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 805 (I805V)

Ref Sequence

ENSEMBL: ENSMUSP00000031817 (fasta)

Gene Model

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

AlphaFold

F2Z461

Predicted Effect

probably benign
Transcript: ENSMUST00000031817
AA Change: I805V

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: I805V

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	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
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
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
R8696:Herc6	UTSW	6	57647149	missense	probably benign	0.00
R8751:Herc6	UTSW	6	57662374	missense	probably damaging	1.00
R9023:Herc6	UTSW	6	57618627	missense	probably benign	0.01
R9112:Herc6	UTSW	6	57619619	missense	probably damaging	1.00
R9176:Herc6	UTSW	6	57659678	missense	probably benign	0.01
R9210:Herc6	UTSW	6	57662365	missense	probably damaging	1.00
R9390:Herc6	UTSW	6	57625970	nonsense	probably null
R9427:Herc6	UTSW	6	57659737	missense	probably damaging	1.00
R9530:Herc6	UTSW	6	57625914	nonsense	probably null
R9581:Herc6	UTSW	6	57658116	missense	probably damaging	1.00
R9612:Herc6	UTSW	6	57652032	missense	probably benign
Z1176:Herc6	UTSW	6	57600031	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTATCAATGAGGTAGAGCAGAC -3'
(R):5'- CTCCAGCAACTCCTTGTGAC -3'

Sequencing Primer
(F):5'- GGTAGAGCAGACTAACAAATCAAATC -3'
(R):5'- GCAACTCCTTGTGACACTAAAAC -3'

Posted On

2015-09-25