Mutagenetix > Incidental Mutation

Incidental Mutation 'R5520:Herc6'

431501

Institutional Source

Beutler Lab

Gene Symbol

Herc6

Ensembl Gene

ENSMUSG00000029798

Gene Name

hect domain and RLD 6

Synonyms

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

MMRRC Submission

043079-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57557985-57641617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57624105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 625 (D625V)

Ref Sequence

ENSEMBL: ENSMUSP00000031817 (fasta)

Gene Model

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

AlphaFold

F2Z461

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031817
AA Change: D625V

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: D625V

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: 99.1%
3x: 97.6%
10x: 94.8%
20x: 88.6%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,504,594 (GRCm39)	T186S	probably benign	Het
AI467606	C	T	7: 126,691,998 (GRCm39)	P191L	probably benign	Het
Aoc1l1	C	A	6: 48,952,728 (GRCm39)	Q218K	possibly damaging	Het
Arl9	T	C	5: 77,154,440 (GRCm39)	V56A	probably damaging	Het
Cacng5	T	C	11: 107,768,248 (GRCm39)	Q253R	probably benign	Het
Cc2d1b	T	C	4: 108,483,556 (GRCm39)	M331T	possibly damaging	Het
Cep97	A	G	16: 55,735,659 (GRCm39)	S380P	probably benign	Het
Clpx	A	T	9: 65,224,730 (GRCm39)	K153*	probably null	Het
Dclk2	A	G	3: 86,827,147 (GRCm39)	S111P	probably damaging	Het
E2f7	A	G	10: 110,595,806 (GRCm39)	E167G	probably damaging	Het
Edn1	T	C	13: 42,455,436 (GRCm39)		probably null	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fbxw18	G	T	9: 109,520,589 (GRCm39)	H257N	probably benign	Het
Ftsj3	T	C	11: 106,146,414 (GRCm39)	T22A	probably benign	Het
Gm17019	A	T	5: 15,082,819 (GRCm39)	M45K	possibly damaging	Het
Gpr162	T	C	6: 124,837,876 (GRCm39)	D258G	probably damaging	Het
Grk1	T	A	8: 13,459,305 (GRCm39)	D285E	probably benign	Het
Igkv1-135	C	T	6: 67,587,324 (GRCm39)	P65L	possibly damaging	Het
Lepr	T	C	4: 101,602,734 (GRCm39)	L174P	probably benign	Het
Nphp3	A	G	9: 103,901,872 (GRCm39)	S689G	probably benign	Het
Or14c44	T	A	7: 86,062,064 (GRCm39)	S165T	probably benign	Het
Or5w20	T	C	2: 87,726,753 (GRCm39)		probably benign	Het
Phf8-ps	A	G	17: 33,284,367 (GRCm39)	Y812H	probably benign	Het
Plxnb2	T	G	15: 89,051,746 (GRCm39)	T158P	possibly damaging	Het
Pramel32	A	C	4: 88,548,277 (GRCm39)	S43A	probably damaging	Het
R3hcc1	T	A	14: 69,936,057 (GRCm39)	K437*	probably null	Het
Rnf213	C	A	11: 119,324,325 (GRCm39)	H1428Q	probably damaging	Het
Ro60	A	T	1: 143,646,509 (GRCm39)	S79T	probably benign	Het
Spata31e2	A	T	1: 26,724,900 (GRCm39)	N93K	probably benign	Het
Ssx2ip	G	A	3: 146,143,066 (GRCm39)	R548H	probably benign	Het
Trim23	C	T	13: 104,324,035 (GRCm39)	R165C	probably damaging	Het
Ulk2	T	G	11: 61,698,970 (GRCm39)	T405P	probably damaging	Het
Unkl	G	A	17: 25,424,584 (GRCm39)	V204I	probably damaging	Het
Vmn1r43	T	C	6: 89,846,728 (GRCm39)	T253A	probably damaging	Het
Zfp534	T	C	4: 147,759,887 (GRCm39)	I261V	possibly damaging	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
IGL03297:Herc6	APN	6	57,639,374 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGGAGGTGCTTCATTGTAATAG -3'
(R):5'- TGGCCTCTATCACACATGGC -3'

Sequencing Primer
(F):5'- GTCAAAACCTTTTTGCCTC -3'
(R):5'- CACACATGGCAAAGTCCTTTTGTG -3'

Posted On

2016-10-05