Mutagenetix > Incidental Mutations

Incidental Mutation 'R1742:Herc4'

200439

Institutional Source

Beutler Lab

Gene Symbol

Herc4

Ensembl Gene

ENSMUSG00000020064

Gene Name

hect domain and RLD 4

Synonyms

MMRRC Submission

039774-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.809) question?

Stock #

R1742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63243810-63317878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63287949 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 461 (N461K)

Ref Sequence

ENSEMBL: ENSMUSP00000151886 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020258
AA Change: N461K

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: N461K

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

noncoding transcript
Transcript: ENSMUST00000181342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218073

Predicted Effect

probably benign
Transcript: ENSMUST00000219577
AA Change: N461K

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220097

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	T	2: 130,740,395		probably null	Het
Ankhd1	C	A	18: 36,625,265	A1004E	probably damaging	Het
Arfgef2	A	G	2: 166,866,980	S1071G	probably damaging	Het
Arhgef5	T	A	6: 43,280,199	I1228N	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bptf	A	G	11: 107,110,951	V445A	probably damaging	Het
Btf3	C	T	13: 98,316,296	M1I	probably null	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
Ccdc171	T	A	4: 83,681,284	S779T	probably damaging	Het
Ccdc54	T	C	16: 50,590,238	K222E	possibly damaging	Het
Cebpe	A	G	14: 54,711,600	V120A	probably benign	Het
Clhc1	T	A	11: 29,557,647		probably null	Het
Col22a1	C	T	15: 71,801,913	G985S	unknown	Het
Col6a3	T	A	1: 90,813,794	I639F	probably damaging	Het
Cryga	C	A	1: 65,103,121	V38L	probably benign	Het
Dll3	T	C	7: 28,294,423	T530A	probably benign	Het
Dnah7a	G	A	1: 53,456,684	P3205S	probably benign	Het
Dpp10	T	A	1: 123,445,206	Y224F	probably damaging	Het
Fcrls	T	C	3: 87,259,043	T142A	possibly damaging	Het
Fyttd1	C	T	16: 32,905,553	R175*	probably null	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm11487	T	C	4: 73,401,210	D99G	probably damaging	Het
Gm8332	C	T	12: 88,249,683	D140N	unknown	Het
Gpr33	T	C	12: 52,024,262		probably null	Het
Gse1	T	A	8: 120,566,950	V205E	probably damaging	Het
Ifi206	G	A	1: 173,481,971	T153I	probably benign	Het
Iqca	T	C	1: 90,098,051	I341V	probably benign	Het
Itsn1	T	G	16: 91,816,959		probably null	Het
Kcnk5	T	A	14: 20,141,857	Y412F	probably benign	Het
Lemd1	T	A	1: 132,228,298	I26K	probably damaging	Het
Lipc	A	T	9: 70,820,529	L12Q	probably damaging	Het
Lrrtm1	C	A	6: 77,244,091	P177Q	probably damaging	Het
Mcph1	G	A	8: 18,607,363	G73R	probably benign	Het
Myh11	A	T	16: 14,220,044	L899Q	probably damaging	Het
Myo18a	G	T	11: 77,841,467	R822L	probably damaging	Het
Nav3	T	C	10: 109,769,213	T1000A	probably benign	Het
Nox4	T	C	7: 87,295,818	V94A	possibly damaging	Het
Olfr1115	T	A	2: 87,252,778	N280K	probably benign	Het
Olfr1230	G	T	2: 89,296,424	P282H	probably damaging	Het
Olfr850	A	G	9: 19,478,041	S67P	probably damaging	Het
Oxr1	T	C	15: 41,850,559	L679P	probably damaging	Het
Pcdhb17	T	C	18: 37,486,576	I473T	probably damaging	Het
Pgbd5	T	A	8: 124,380,307	E165D	probably damaging	Het
Pgpep1l	A	T	7: 68,237,054	V169D	probably damaging	Het
Phf12	C	T	11: 78,009,486	T136I	probably benign	Het
Pif1	T	A	9: 65,587,850	M14K	probably benign	Het
Pigr	A	G	1: 130,845,086	E347G	probably damaging	Het
Plekha3	G	A	2: 76,682,879	E103K	possibly damaging	Het
Ptgs2	A	G	1: 150,104,399	I363V	probably damaging	Het
Rasl11a	T	A	5: 146,846,995		probably null	Het
Recql	T	C	6: 142,364,572	T511A	probably damaging	Het
Rgl2	T	A	17: 33,937,223		probably null	Het
Rpp25l	T	C	4: 41,712,763	Y4C	probably damaging	Het
Sass6	T	G	3: 116,607,477	C156G	probably damaging	Het
Sgta	T	G	10: 81,046,277	N288T	probably damaging	Het
Slco1a4	T	A	6: 141,825,045	T282S	probably benign	Het
Smad4	T	C	18: 73,675,897	R100G	probably damaging	Het
Sox8	C	T	17: 25,567,941	V263M	probably damaging	Het
Sp8	A	G	12: 118,849,817	H469R	probably benign	Het
Spata1	A	T	3: 146,469,623		probably null	Het
Taar7a	G	A	10: 23,993,219	S88F	probably damaging	Het
Tnks2	T	C	19: 36,876,261	L749S	probably damaging	Het
Tollip	C	A	7: 141,892,855	R19L	probably damaging	Het
Tox2	G	A	2: 163,225,526	R55H	probably benign	Het
Vmn2r27	T	C	6: 124,200,677	E456G	possibly damaging	Het
Vmn2r77	T	A	7: 86,795,335	N65K	probably benign	Het
Vwf	T	C	6: 125,667,550	M2456T	probably benign	Het
Zfp526	A	G	7: 25,224,514	N66S	possibly damaging	Het
Zic1	T	C	9: 91,361,576	Y446C	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
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
R2077:Herc4	UTSW	10	63264053	missense	probably benign	0.04
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
Z1176:Herc4	UTSW	10	63307749	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GTACCtcctccccactcagcc -3'
(R):5'- ACAGTTGCCTAAGCATTGCGAAGAA -3'

Sequencing Primer
(F):5'- ccccactcagcctctcttac -3'
(R):5'- agccatctcaccagccc -3'

Posted On

2014-05-23