Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Herc6'

592091

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57581000-57664632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57660122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 824 (I824T)

Ref Sequence

ENSEMBL: ENSMUSP00000031817 (fasta)

Gene Model

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

AlphaFold

F2Z461

Predicted Effect

probably damaging
Transcript: ENSMUST00000031817
AA Change: I824T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: I824T

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
Adam26a	T	A	8: 43,570,153	H100L	probably benign	Het
Adgrf2	T	C	17: 42,711,372	N187S	probably damaging	Het
Adipoq	T	A	16: 23,157,582	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,531,925	S209T	probably benign	Het
Arrdc3	C	T	13: 80,889,093	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,689,039	N212D	probably benign	Het
Ccr9	A	T	9: 123,779,306	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,081	V270D	probably damaging	Het
Clic4	A	G	4: 135,217,205	Y220H	probably damaging	Het
Cntln	A	C	4: 84,979,340	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,631,643	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,501,614	N103D	probably benign	Het
Ddx60	T	C	8: 61,975,792	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,232		probably null	Het
Dnah7b	T	A	1: 46,109,302	D279E	probably benign	Het
Fam117a	A	G	11: 95,378,834	N308S	probably benign	Het
Fasn	A	G	11: 120,813,419	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,951,491	S625P	probably benign	Het
Gemin5	A	G	11: 58,147,928	V585A	probably benign	Het
Gm5145	C	A	17: 20,570,384	P8Q	probably benign	Het
Gm8332	T	C	12: 88,249,754	N116S	probably benign	Het
Herc1	C	A	9: 66,416,347	T1381K	probably damaging	Het
Klrb1	C	T	6: 128,710,087	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,908,432	N154D	not run	Het
Lcp1	A	T	14: 75,200,431	I94F	probably benign	Het
Lin7a	A	T	10: 107,382,691	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,685,690	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,701,446	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nme8	T	C	13: 19,658,829	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,111,974		probably null	Het
Nuggc	A	G	14: 65,613,526	I298V	probably damaging	Het
Nup155	A	C	15: 8,153,696	K1247Q	probably damaging	Het
Olfr368	A	T	2: 37,331,759	E4V	probably benign	Het
Olfr403	A	G	11: 74,196,207	K235E	probably damaging	Het
Otud4	T	A	8: 79,655,864		probably null	Het
Pcdhb18	T	C	18: 37,491,696	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Prkca	A	T	11: 108,014,344	N189K	probably damaging	Het
Rbm24	A	G	13: 46,429,207	I201V	probably benign	Het
Reep6	T	C	10: 80,333,793	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,040		probably benign	Het
Rev3l	C	T	10: 39,836,722	T2382I	probably benign	Het
Rnf31	A	G	14: 55,594,361	N230S	probably benign	Het
Rreb1	T	C	13: 37,931,572	L969P	probably benign	Het
Rsph4a	T	A	10: 33,909,033	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,217,266	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,718,997	V232D	probably damaging	Het
Stmn2	T	C	3: 8,554,865	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424	G1373D	probably damaging	Het
Tmem206	A	G	1: 191,340,868	N162S	probably benign	Het
Tns1	C	A	1: 73,952,477	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,135,867	C768*	probably null	Het
Ubl7	A	T	9: 57,929,769	E354D	probably benign	Het
Ush2a	T	C	1: 188,784,708	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,510,573	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,951,877	L402P	probably damaging	Het
Zfp27	T	A	7: 29,894,796	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,215,076		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
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
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'- GTTGCTGGAGATTGCACCTATG -3'
(R):5'- CAGCTTTCTGACCACTATGATACAAG -3'

Sequencing Primer
(F):5'- ATCCCCAGCCATTATCTAT -3'
(R):5'- TGCCTATTCAAAGTAGA -3'

Posted On

2019-11-12