Mutagenetix > Incidental Mutation

Incidental Mutation 'R5330:Herc4'

423166

Institutional Source

Beutler Lab

Gene Symbol

Herc4

Ensembl Gene

ENSMUSG00000020064

Gene Name

hect domain and RLD 4

Synonyms

4921531D01Rik, 1700056O17Rik, 9530080M15Rik

MMRRC Submission

042912-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R5330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63079589-63153657 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 63143578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 703 (E703*)

Ref Sequence

ENSEMBL: ENSMUSP00000151886 (fasta)

Gene Model

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

AlphaFold

Q6PAV2

Predicted Effect

probably null
Transcript: ENSMUST00000020258
AA Change: E695*

SMART Domains

Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: E695*

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: ENSMUST00000219002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219279

Predicted Effect

probably null
Transcript: ENSMUST00000219577
AA Change: E703*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220097

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (95/96)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Abca16	T	A	7: 120,102,600 (GRCm39)	I833N	probably benign	Het
Adam6b	C	A	12: 113,454,200 (GRCm39)	P339H	possibly damaging	Het
Adgrb2	A	T	4: 129,915,995 (GRCm39)	H1505L	possibly damaging	Het
Aktip	A	T	8: 91,853,352 (GRCm39)	F122I	probably damaging	Het
Ankrd27	T	A	7: 35,315,351 (GRCm39)	L500*	probably null	Het
Blm	T	C	7: 80,108,684 (GRCm39)	E55G	possibly damaging	Het
Carmil1	A	T	13: 24,209,929 (GRCm39)		probably null	Het
Cdca7	T	C	2: 72,315,042 (GRCm39)	C311R	probably damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctnnd2	C	T	15: 30,332,261 (GRCm39)	T48I	probably damaging	Het
Cyp2b10	T	A	7: 25,613,414 (GRCm39)	Y203*	probably null	Het
Dchs1	A	T	7: 105,403,809 (GRCm39)	V2911E	probably damaging	Het
Dnah12	G	A	14: 26,495,787 (GRCm39)	E1472K	probably damaging	Het
Dnah3	T	C	7: 119,542,871 (GRCm39)	T3514A	probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	Het
Fbxo41	T	C	6: 85,456,888 (GRCm39)	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583 (GRCm39)	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,317,283 (GRCm39)		noncoding transcript	Het
Gm10313	T	A	8: 46,708,490 (GRCm39)		noncoding transcript	Het
Gm5414	C	A	15: 101,533,099 (GRCm39)	V443F	probably damaging	Het
Gm7334	T	C	17: 51,006,160 (GRCm39)	S149P	possibly damaging	Het
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	Het
Hdac5	T	C	11: 102,088,180 (GRCm39)	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377 (GRCm39)	T211A	probably benign	Het
Hivep2	A	G	10: 14,007,164 (GRCm39)	K1254R	probably damaging	Het
Hras	T	C	7: 140,772,853 (GRCm39)	M1V	probably null	Het
Il23r	T	G	6: 67,400,479 (GRCm39)	Q617P	probably damaging	Het
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kcnj12	A	G	11: 60,961,012 (GRCm39)	K437E	probably benign	Het
Lct	A	T	1: 128,226,266 (GRCm39)	D1374E	probably benign	Het
Luc7l	C	A	17: 26,494,707 (GRCm39)	C104*	probably null	Het
Lurap1	G	A	4: 116,001,601 (GRCm39)	L31F	probably damaging	Het
Mark4	G	A	7: 19,170,908 (GRCm39)	P321S	probably damaging	Het
Med18	A	G	4: 132,190,377 (GRCm39)		probably benign	Het
Mia2	A	G	12: 59,142,598 (GRCm39)	S5G	probably benign	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nob1	T	G	8: 108,142,881 (GRCm39)	T267P	probably damaging	Het
Nos3	A	G	5: 24,574,902 (GRCm39)	E307G	probably damaging	Het
Nrxn2	A	G	19: 6,540,111 (GRCm39)	T796A	probably damaging	Het
Nwd2	C	A	5: 63,963,859 (GRCm39)	L1148I	probably benign	Het
Pcdh17	T	A	14: 84,770,486 (GRCm39)	V988E	probably damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Phlpp2	A	G	8: 110,660,667 (GRCm39)	D774G	probably damaging	Het
Pibf1	T	C	14: 99,378,082 (GRCm39)	Y403H	probably damaging	Het
Plcl2	G	A	17: 50,816,876 (GRCm39)	A81T	probably benign	Het
Polr2a	T	C	11: 69,638,101 (GRCm39)	N123D	probably benign	Het
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Ptprk	A	T	10: 28,463,076 (GRCm39)	D189V	probably damaging	Het
Relb	C	T	7: 19,340,630 (GRCm39)	G509S	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	probably benign	Het
Rhbg	T	A	3: 88,152,775 (GRCm39)	T313S	probably benign	Het
Ripply2	T	A	9: 86,897,691 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,210,701 (GRCm39)	V1011A	probably benign	Het
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Sel1l3	A	T	5: 53,343,351 (GRCm39)	Y314N	possibly damaging	Het
Slc17a8	A	G	10: 89,425,356 (GRCm39)		probably null	Het
Slc22a14	A	T	9: 119,059,662 (GRCm39)	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,856,820 (GRCm39)	I406T	probably benign	Het
Slc30a6	A	G	17: 74,730,190 (GRCm39)	D355G	probably benign	Het
Snta1	C	A	2: 154,219,940 (GRCm39)	E403*	probably null	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Spata31d1a	A	T	13: 59,848,217 (GRCm39)	C1304S	possibly damaging	Het
Srebf2	T	A	15: 82,080,409 (GRCm39)	I834N	possibly damaging	Het
Steap1	G	T	5: 5,790,422 (GRCm39)	H175Q	probably damaging	Het
Sult2a8	T	C	7: 14,147,679 (GRCm39)	E204G	possibly damaging	Het
Tacc2	T	C	7: 130,335,258 (GRCm39)	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,037,140 (GRCm39)	A263V	probably benign	Het
Tecta	A	C	9: 42,249,152 (GRCm39)	D1903E	probably damaging	Het
Tmem222	A	C	4: 133,004,935 (GRCm39)	M34R	possibly damaging	Het
Tnik	A	G	3: 28,596,167 (GRCm39)	T187A	probably damaging	Het
Trpv4	A	G	5: 114,773,604 (GRCm39)	Y253H	probably damaging	Het
Trpv5	G	A	6: 41,637,266 (GRCm39)	R358C	probably benign	Het
Ttll13	T	C	7: 79,910,257 (GRCm39)	V800A	probably benign	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Vmn2r58	G	A	7: 41,513,384 (GRCm39)	Q420*	probably null	Het
Zranb3	G	A	1: 127,887,457 (GRCm39)	P990L	probably damaging	Het
Zswim9	T	A	7: 12,993,912 (GRCm39)	D748V	probably damaging	Het

Other mutations in Herc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Herc4	APN	10	63,109,316 (GRCm39)	missense	probably benign	0.01
IGL00977:Herc4	APN	10	63,147,346 (GRCm39)	missense	probably damaging	1.00
IGL01455:Herc4	APN	10	63,121,922 (GRCm39)	critical splice donor site	probably null
IGL01615:Herc4	APN	10	63,126,461 (GRCm39)	splice site	probably benign
IGL01974:Herc4	APN	10	63,135,020 (GRCm39)	critical splice donor site	probably null
IGL02207:Herc4	APN	10	63,135,023 (GRCm39)	splice site	probably null
IGL02215:Herc4	APN	10	63,109,345 (GRCm39)	missense	probably benign
IGL02331:Herc4	APN	10	63,099,939 (GRCm39)	missense	probably benign
IGL02407:Herc4	APN	10	63,142,203 (GRCm39)	missense	probably damaging	0.96
IGL02444:Herc4	APN	10	63,142,212 (GRCm39)	missense	probably benign	0.00
IGL02498:Herc4	APN	10	63,109,244 (GRCm39)	missense	probably benign	0.01
IGL02797:Herc4	APN	10	63,152,586 (GRCm39)	splice site	probably null
IGL02804:Herc4	APN	10	63,121,454 (GRCm39)	missense	probably benign	0.10
Boosted	UTSW	10	63,099,950 (GRCm39)	nonsense	probably null
Factorial	UTSW	10	63,121,847 (GRCm39)	missense	probably benign	0.00
handout	UTSW	10	63,151,437 (GRCm39)	critical splice acceptor site	probably null
R0499:Herc4	UTSW	10	63,099,811 (GRCm39)	missense	probably damaging	1.00
R0655:Herc4	UTSW	10	63,109,350 (GRCm39)	missense	probably benign	0.33
R0722:Herc4	UTSW	10	63,121,844 (GRCm39)	missense	probably null	0.56
R0738:Herc4	UTSW	10	63,124,928 (GRCm39)	missense	possibly damaging	0.93
R1742:Herc4	UTSW	10	63,123,728 (GRCm39)	missense	probably benign	0.16
R1776:Herc4	UTSW	10	63,099,950 (GRCm39)	nonsense	probably null
R1792:Herc4	UTSW	10	63,081,680 (GRCm39)	start codon destroyed	probably null	1.00
R1968:Herc4	UTSW	10	63,109,304 (GRCm39)	missense	probably benign	0.43
R1992:Herc4	UTSW	10	63,081,743 (GRCm39)	missense	possibly damaging	0.50
R2012:Herc4	UTSW	10	63,079,817 (GRCm39)	start gained	probably benign
R2077:Herc4	UTSW	10	63,099,832 (GRCm39)	missense	probably benign	0.04
R2103:Herc4	UTSW	10	63,081,889 (GRCm39)	missense	probably benign	0.00
R2363:Herc4	UTSW	10	63,151,473 (GRCm39)	missense	possibly damaging	0.96
R3833:Herc4	UTSW	10	63,081,739 (GRCm39)	missense	probably benign
R4014:Herc4	UTSW	10	63,123,323 (GRCm39)	missense	probably benign
R4084:Herc4	UTSW	10	63,119,016 (GRCm39)	missense	probably damaging	1.00
R4855:Herc4	UTSW	10	63,151,437 (GRCm39)	critical splice acceptor site	probably null
R4883:Herc4	UTSW	10	63,121,433 (GRCm39)	missense	probably benign	0.00
R5215:Herc4	UTSW	10	63,124,876 (GRCm39)	missense	probably benign	0.22
R5331:Herc4	UTSW	10	63,143,578 (GRCm39)	nonsense	probably null
R5429:Herc4	UTSW	10	63,110,792 (GRCm39)	missense	probably benign	0.01
R6058:Herc4	UTSW	10	63,110,821 (GRCm39)	missense	possibly damaging	0.80
R6462:Herc4	UTSW	10	63,124,880 (GRCm39)	missense	probably benign
R6502:Herc4	UTSW	10	63,153,197 (GRCm39)	missense	probably benign	0.00
R6669:Herc4	UTSW	10	63,121,847 (GRCm39)	missense	probably benign	0.00
R7161:Herc4	UTSW	10	63,144,194 (GRCm39)	missense	probably benign	0.35
R7267:Herc4	UTSW	10	63,109,365 (GRCm39)	missense	possibly damaging	0.64
R7740:Herc4	UTSW	10	63,105,457 (GRCm39)	missense	probably benign	0.02
R8515:Herc4	UTSW	10	63,151,565 (GRCm39)	missense	probably benign	0.00
R8896:Herc4	UTSW	10	63,147,286 (GRCm39)	missense	possibly damaging	0.61
R9117:Herc4	UTSW	10	63,126,300 (GRCm39)	missense	probably benign	0.22
R9332:Herc4	UTSW	10	63,144,125 (GRCm39)	missense	probably damaging	1.00
R9388:Herc4	UTSW	10	63,143,522 (GRCm39)	missense	probably benign	0.00
R9530:Herc4	UTSW	10	63,126,382 (GRCm39)	missense	probably benign	0.00
Z1176:Herc4	UTSW	10	63,143,528 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ATGCTTGCATGTGATCCCAG -3'
(R):5'- GTGTTTCAAATACACACGTACACAC -3'

Sequencing Primer
(F):5'- AAGCTCATGTTCCATGACATGCG -3'
(R):5'- CACACACCCTAGAACAGCTTTTACAG -3'

Posted On

2016-08-04