Mutagenetix > Incidental Mutation

Incidental Mutation 'R5545:Herc6'

436184

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

043103-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5545 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57557985-57641617 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 57634992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031817 (fasta)

Gene Model

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

AlphaFold

F2Z461

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

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	C	3: 145,644,853 (GRCm39)		probably null	Het
Acot5	G	A	12: 84,116,380 (GRCm39)	R47Q	possibly damaging	Het
Akr1c19	A	T	13: 4,292,594 (GRCm39)	Y205F	probably benign	Het
Cdh6	T	C	15: 13,041,235 (GRCm39)	Y564C	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Cyp20a1	T	C	1: 60,415,241 (GRCm39)	I289T	possibly damaging	Het
Ifnar2	G	A	16: 91,181,913 (GRCm39)		probably null	Het
Kcnd2	A	G	6: 21,217,018 (GRCm39)	T241A	probably damaging	Het
Nfatc2ip	T	A	7: 125,989,642 (GRCm39)	E247D	possibly damaging	Het
Or2k2	T	G	4: 58,785,585 (GRCm39)	I46L	probably benign	Het
Or2o1	G	A	11: 49,051,453 (GRCm39)	C204Y	probably damaging	Het
Pate10	A	G	9: 35,652,940 (GRCm39)	I61V	probably benign	Het
Plekhg2	T	C	7: 28,061,886 (GRCm39)	E638G	probably damaging	Het
Plin1	T	C	7: 79,376,257 (GRCm39)	T160A	probably benign	Het
Prox1	T	A	1: 189,879,339 (GRCm39)	N613I	probably damaging	Het
Ptpn13	A	G	5: 103,709,830 (GRCm39)	S1498G	probably damaging	Het
Ralbp1	C	T	17: 66,157,099 (GRCm39)	R598Q	possibly damaging	Het
Robo2	A	C	16: 73,758,635 (GRCm39)	V712G	probably damaging	Het
Rsl1d1	A	G	16: 11,017,514 (GRCm39)	F151L	probably damaging	Het
Scrn3	T	A	2: 73,166,125 (GRCm39)	I386N	possibly damaging	Het
Sorl1	T	A	9: 41,902,921 (GRCm39)	Y1591F	probably benign	Het
Tbr1	T	G	2: 61,637,720 (GRCm39)	V93G	possibly damaging	Het
Tmem229b	A	G	12: 79,011,583 (GRCm39)	I116T	probably damaging	Het
Ttn	T	C	2: 76,594,720 (GRCm39)	Q12115R	possibly damaging	Het
Ube3a	C	T	7: 58,921,772 (GRCm39)	T48M	probably damaging	Het
Vnn3	A	G	10: 23,742,992 (GRCm39)	I401V	probably benign	Het
Wdr90	C	T	17: 26,064,830 (GRCm39)	R1744H	probably damaging	Het
Zc3h7a	T	C	16: 10,966,315 (GRCm39)	D604G	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
R5520:Herc6	UTSW	6	57,624,105 (GRCm39)	missense	possibly damaging	0.51
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'- AAGGTCACCCTCAGCTATATAGTT -3'
(R):5'- AGTATATGTACTTACCTCCCCAAGG -3'

Sequencing Primer
(F):5'- CTAGTCGGCCATCACTGGAAAG -3'
(R):5'- CCAAGGGAAGACTAAGTTCTTTTAAG -3'

Posted On

2016-10-24