Mutagenetix > Incidental Mutation

Incidental Mutation 'R2077:Herc4'

229221

Institutional Source

Beutler Lab

Gene Symbol

Herc4

Ensembl Gene

ENSMUSG00000020064

Gene Name

hect domain and RLD 4

Synonyms

MMRRC Submission

040082-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.840) question?

Stock #

R2077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63243810-63317878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63264053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 85 (N85S)

Ref Sequence

ENSEMBL: ENSMUSP00000151886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020258] [ENSMUST00000218533] [ENSMUST00000219577]

AlphaFold

Q6PAV2

Predicted Effect

probably benign
Transcript: ENSMUST00000020258
AA Change: N85S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: N85S

Domain	Start	End	E-Value	Type
Pfam:RCC1	1	49	5.1e-11	PFAM
Pfam:RCC1_2	36	65	1.2e-9	PFAM
Pfam:RCC1	52	99	7.9e-16	PFAM
Pfam:RCC1_2	86	115	2.8e-11	PFAM
Pfam:RCC1	102	152	7.6e-18	PFAM
Pfam:RCC1_2	139	168	9.9e-14	PFAM
Pfam:RCC1	156	205	2.2e-15	PFAM
Pfam:RCC1_2	194	221	4.9e-10	PFAM
Pfam:RCC1	208	257	3.5e-17	PFAM
Pfam:RCC1	260	309	9.4e-14	PFAM
Pfam:RCC1	313	376	2.7e-8	PFAM
HECTc	720	1049	1.19e-135	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219230

Predicted Effect

probably benign
Transcript: ENSMUST00000219577
AA Change: N85S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0944

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HERC4 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]
PHENOTYPE: Mice homozygous for a gene-trapped allele display reduced male fertility associated with a high percentage of angulated sperm tails and impaired sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	A	4: 144,457,034		probably benign	Het
Abhd16b	A	C	2: 181,493,416	D37A	probably benign	Het
Acp7	T	C	7: 28,629,482	E91G	probably damaging	Het
Alms1	T	A	6: 85,622,309	N1841K	possibly damaging	Het
Arhgap25	T	A	6: 87,460,008	D620V	probably damaging	Het
Caps2	C	T	10: 112,199,727	T371I	possibly damaging	Het
Ccdc175	A	G	12: 72,140,020	I350T	possibly damaging	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Cdc42bpb	A	G	12: 111,299,196	L1434P	probably damaging	Het
Cdkl3	A	T	11: 52,026,839	E321V	probably damaging	Het
Clec2d	G	T	6: 129,183,190	V56L	possibly damaging	Het
Cops3	A	T	11: 59,824,310	S301T	possibly damaging	Het
Crygd	T	C	1: 65,063,246	D19G	probably damaging	Het
Dnah2	T	C	11: 69,496,606	I931M	possibly damaging	Het
Dst	A	T	1: 34,211,170	R4068S	probably damaging	Het
Fas	C	T	19: 34,320,553		probably benign	Het
G6pd2	T	A	5: 61,810,251	D456E	probably damaging	Het
Galnt18	G	A	7: 111,554,602	R272W	probably damaging	Het
Grb2	C	A	11: 115,645,825	G200W	probably damaging	Het
Ighv7-2	T	C	12: 113,912,107	D92G	probably damaging	Het
Itih3	A	G	14: 30,909,835	V765A	possibly damaging	Het
Itm2b	T	C	14: 73,363,120	N247D	probably benign	Het
Kcnd3	T	C	3: 105,666,999	V500A	probably benign	Het
Lrp2	C	T	2: 69,507,843	G1198R	probably damaging	Het
Ltb4r2	A	G	14: 55,761,987	T22A	probably damaging	Het
Mdga2	A	G	12: 66,655,362	V355A	probably damaging	Het
Megf8	T	A	7: 25,353,738	V1778E	probably benign	Het
Mroh2b	G	A	15: 4,944,966	E1143K	probably damaging	Het
Nbn	A	T	4: 15,979,389	Y458F	probably damaging	Het
Nlrc3	A	G	16: 3,963,992	C534R	probably benign	Het
Nup155	A	G	15: 8,143,026	E832G	probably damaging	Het
Olfr1131	A	G	2: 87,628,829	Y122C	probably damaging	Het
Plcl2	A	G	17: 50,606,829	T289A	probably benign	Het
Ptprs	C	T	17: 56,434,990	R7Q	probably null	Het
Rab3ip	A	T	10: 116,918,960	D198E	possibly damaging	Het
Scaf4	A	T	16: 90,252,435	F255I	unknown	Het
Senp6	T	C	9: 80,126,155	S475P	probably benign	Het
Shpk	T	C	11: 73,203,959	L67P	probably damaging	Het
Sik3	T	A	9: 46,219,503	Y1246N	probably damaging	Het
Slc44a2	A	G	9: 21,353,724	Y686C	probably damaging	Het
Slc6a19	A	G	13: 73,700,566	V23A	probably benign	Het
Slit3	A	T	11: 35,544,748	I169F	possibly damaging	Het
Stxbp5l	A	G	16: 37,236,275	V379A	possibly damaging	Het
Tex2	T	C	11: 106,506,864		probably null	Het
Tnpo3	A	G	6: 29,586,144	V149A	possibly damaging	Het
Vmn1r158	T	A	7: 22,790,390	R131S	probably benign	Het
Vmn2r24	T	A	6: 123,815,399	C562S	probably damaging	Het
Wipi1	T	C	11: 109,577,664	N368S	probably benign	Het
Zbtb41	T	C	1: 139,424,093	S315P	probably damaging	Het

Other mutations in Herc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Herc4	APN	10	63273537	missense	probably benign	0.01
IGL00977:Herc4	APN	10	63311567	missense	probably damaging	1.00
IGL01455:Herc4	APN	10	63286143	critical splice donor site	probably null
IGL01615:Herc4	APN	10	63290682	splice site	probably benign
IGL01974:Herc4	APN	10	63299241	critical splice donor site	probably null
IGL02207:Herc4	APN	10	63299244	splice site	probably null
IGL02215:Herc4	APN	10	63273566	missense	probably benign
IGL02331:Herc4	APN	10	63264160	missense	probably benign
IGL02407:Herc4	APN	10	63306424	missense	probably damaging	0.96
IGL02444:Herc4	APN	10	63306433	missense	probably benign	0.00
IGL02498:Herc4	APN	10	63273465	missense	probably benign	0.01
IGL02797:Herc4	APN	10	63316807	splice site	probably null
IGL02804:Herc4	APN	10	63285675	missense	probably benign	0.10
Boosted	UTSW	10	63264171	nonsense	probably null
Factorial	UTSW	10	63286068	missense	probably benign	0.00
handout	UTSW	10	63315658	critical splice acceptor site	probably null
R0499:Herc4	UTSW	10	63264032	missense	probably damaging	1.00
R0655:Herc4	UTSW	10	63273571	missense	probably benign	0.33
R0722:Herc4	UTSW	10	63286065	missense	probably null	0.56
R0738:Herc4	UTSW	10	63289149	missense	possibly damaging	0.93
R1742:Herc4	UTSW	10	63287949	missense	probably benign	0.16
R1776:Herc4	UTSW	10	63264171	nonsense	probably null
R1792:Herc4	UTSW	10	63245901	start codon destroyed	probably null	1.00
R1968:Herc4	UTSW	10	63273525	missense	probably benign	0.43
R1992:Herc4	UTSW	10	63245964	missense	possibly damaging	0.50
R2012:Herc4	UTSW	10	63244038	start gained	probably benign
R2103:Herc4	UTSW	10	63246110	missense	probably benign	0.00
R2363:Herc4	UTSW	10	63315694	missense	possibly damaging	0.96
R3833:Herc4	UTSW	10	63245960	missense	probably benign
R4014:Herc4	UTSW	10	63287544	missense	probably benign
R4084:Herc4	UTSW	10	63283237	missense	probably damaging	1.00
R4855:Herc4	UTSW	10	63315658	critical splice acceptor site	probably null
R4883:Herc4	UTSW	10	63285654	missense	probably benign	0.00
R5215:Herc4	UTSW	10	63289097	missense	probably benign	0.22
R5330:Herc4	UTSW	10	63307799	nonsense	probably null
R5331:Herc4	UTSW	10	63307799	nonsense	probably null
R5429:Herc4	UTSW	10	63275013	missense	probably benign	0.01
R6058:Herc4	UTSW	10	63275042	missense	possibly damaging	0.80
R6462:Herc4	UTSW	10	63289101	missense	probably benign
R6502:Herc4	UTSW	10	63317418	missense	probably benign	0.00
R6669:Herc4	UTSW	10	63286068	missense	probably benign	0.00
R7161:Herc4	UTSW	10	63308415	missense	probably benign	0.35
R7267:Herc4	UTSW	10	63273586	missense	possibly damaging	0.64
R7740:Herc4	UTSW	10	63269678	missense	probably benign	0.02
R8515:Herc4	UTSW	10	63315786	missense	probably benign	0.00
R8896:Herc4	UTSW	10	63311507	missense	possibly damaging	0.61
R9117:Herc4	UTSW	10	63290521	missense	probably benign	0.22
R9332:Herc4	UTSW	10	63308346	missense	probably damaging	1.00
R9388:Herc4	UTSW	10	63307743	missense	probably benign	0.00
R9530:Herc4	UTSW	10	63290603	missense	probably benign	0.00
Z1176:Herc4	UTSW	10	63307749	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TCCAGATTTCTCTAGGATGTTCAGGTC -3'
(R):5'- AGCTTAAGGACCTCTGTGCG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GGTCACCTTTGTTACCTGGGTAC -3'

Posted On

2014-09-17