Mutagenetix > Incidental Mutation

Incidental Mutation 'R1776:Herc4'

197038

Institutional Source

Beutler Lab

Gene Symbol

Herc4

Ensembl Gene

ENSMUSG00000020064

Gene Name

hect domain and RLD 4

Synonyms

4921531D01Rik, 1700056O17Rik, 9530080M15Rik

MMRRC Submission

039807-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R1776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63079589-63153657 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 63099950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 124 (C124*)

Ref Sequence

ENSEMBL: ENSMUSP00000151886 (fasta)

Gene Model

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

AlphaFold

Q6PAV2

Predicted Effect

probably null
Transcript: ENSMUST00000020258
AA Change: C124*

SMART Domains

Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: C124*

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 null
Transcript: ENSMUST00000219577
AA Change: C124*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

Validation Efficiency

98% (86/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,711,058 (GRCm39)		noncoding transcript	Het
9430097D07Rik	T	C	2: 32,464,767 (GRCm39)		probably benign	Het
A2m	C	G	6: 121,618,383 (GRCm39)	F225L	probably damaging	Het
Adamts19	T	A	18: 59,087,692 (GRCm39)	I574N	probably damaging	Het
Ankfn1	T	C	11: 89,417,300 (GRCm39)	D104G	possibly damaging	Het
Ankhd1	T	A	18: 36,780,361 (GRCm39)	N1804K	probably benign	Het
Ankle1	G	T	8: 71,861,918 (GRCm39)	V474F	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm39)	S149R	probably damaging	Het
Cass4	A	T	2: 172,269,615 (GRCm39)	I568L	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdx1	G	A	18: 61,169,086 (GRCm39)	A36V	probably benign	Het
Cep57	A	T	9: 13,730,170 (GRCm39)	S123T	probably damaging	Het
Clca3a2	T	A	3: 144,519,681 (GRCm39)	Q231L	probably damaging	Het
Clcnkb	T	C	4: 141,142,500 (GRCm39)		probably benign	Het
Crabp2	C	A	3: 87,860,301 (GRCm39)	T125K	probably benign	Het
Dennd3	A	G	15: 73,426,950 (GRCm39)	T776A	possibly damaging	Het
Dnajb6	T	C	5: 29,990,091 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,380,593 (GRCm39)	I1847N	probably damaging	Het
Dync1h1	T	C	12: 110,599,362 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,879,100 (GRCm39)	I63T	probably damaging	Het
Fbn1	A	C	2: 125,163,654 (GRCm39)	F2067L	possibly damaging	Het
Fbxo16	T	A	14: 65,532,835 (GRCm39)		probably null	Het
Gm3604	C	A	13: 62,517,888 (GRCm39)	G157*	probably null	Het
Gm5250	A	G	1: 13,132,564 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,067,007 (GRCm39)	S503P	possibly damaging	Het
Ift27	T	C	15: 78,050,181 (GRCm39)	D76G	probably null	Het
Igdcc3	C	T	9: 65,090,034 (GRCm39)	Q550*	probably null	Het
Igsf6	T	A	7: 120,667,522 (GRCm39)	I165F	probably damaging	Het
Il31ra	T	C	13: 112,677,773 (GRCm39)	I173M	probably damaging	Het
Kbtbd6	G	A	14: 79,690,045 (GRCm39)	D247N	probably benign	Het
Kcnq2	T	A	2: 180,742,350 (GRCm39)	T394S	probably benign	Het
Mia2	A	G	12: 59,196,361 (GRCm39)		probably benign	Het
Mvp	T	C	7: 126,591,933 (GRCm39)	Q419R	probably benign	Het
Mylk	A	G	16: 34,773,152 (GRCm39)	D1250G	probably benign	Het
Necab1	A	G	4: 15,111,267 (GRCm39)	Y54H	probably damaging	Het
Nlk	T	A	11: 78,477,853 (GRCm39)	M297L	probably benign	Het
Nsl1	G	T	1: 190,795,385 (GRCm39)	M50I	probably benign	Het
Numa1	A	G	7: 101,660,257 (GRCm39)	T441A	probably damaging	Het
Ofd1	A	G	X: 165,189,002 (GRCm39)	Y755H	probably benign	Het
Or10d1c	G	A	9: 38,894,190 (GRCm39)	S50F	probably damaging	Het
Or6c69b	C	T	10: 129,627,000 (GRCm39)	V153I	probably benign	Het
Or8b12i	G	A	9: 20,082,105 (GRCm39)	T254I	probably benign	Het
Ovgp1	A	T	3: 105,885,114 (GRCm39)	H151L	possibly damaging	Het
Pigz	G	A	16: 31,763,397 (GRCm39)	E152K	probably damaging	Het
Plxna1	A	T	6: 89,312,446 (GRCm39)	D779E	probably benign	Het
Ppil4	A	T	10: 7,686,201 (GRCm39)	E353V	probably benign	Het
Ptprq	C	T	10: 107,520,950 (GRCm39)	G741S	probably damaging	Het
Rplp0	T	C	5: 115,700,524 (GRCm39)	Y231H	probably benign	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Rundc3b	T	C	5: 8,629,050 (GRCm39)	E117G	probably damaging	Het
Ryr2	A	C	13: 11,760,062 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,787,598 (GRCm39)	M198K	probably damaging	Het
Sdhd	T	C	9: 50,508,500 (GRCm39)	K122R	probably benign	Het
Senp2	T	C	16: 21,861,810 (GRCm39)		probably benign	Het
Setd3	C	A	12: 108,131,420 (GRCm39)	G2V	probably damaging	Het
Sfxn5	A	G	6: 85,244,927 (GRCm39)		probably benign	Het
She	T	A	3: 89,739,345 (GRCm39)	S179T	possibly damaging	Het
Slc24a2	G	A	4: 87,094,526 (GRCm39)	T331I	probably benign	Het
Slc45a3	T	C	1: 131,904,694 (GRCm39)	W6R	possibly damaging	Het
Slc9a4	T	C	1: 40,668,447 (GRCm39)	S697P	probably benign	Het
Soat1	C	T	1: 156,269,991 (GRCm39)	V143I	probably benign	Het
Sp8	T	A	12: 118,813,302 (GRCm39)	F386I	probably damaging	Het
Spata31d1b	A	G	13: 59,864,381 (GRCm39)	T510A	probably benign	Het
Srgap2	T	A	1: 131,339,588 (GRCm39)	I125F	probably damaging	Het
Stab2	T	A	10: 86,793,680 (GRCm39)	I472F	possibly damaging	Het
Taar7f	C	T	10: 23,925,546 (GRCm39)	R47C	probably benign	Het
Tbc1d19	T	A	5: 54,046,653 (GRCm39)		probably null	Het
Tbc1d21	T	A	9: 58,274,011 (GRCm39)		probably benign	Het
Tcaf1	A	G	6: 42,655,389 (GRCm39)	I529T	possibly damaging	Het
Tgfbr2	A	T	9: 116,004,035 (GRCm39)	I24N	possibly damaging	Het
Tgm1	T	C	14: 55,946,854 (GRCm39)	T385A	probably damaging	Het
Tgm2	T	C	2: 157,973,379 (GRCm39)	N244S	probably benign	Het
Thoc5	T	C	11: 4,864,517 (GRCm39)		probably benign	Het
Tmc2	A	T	2: 130,076,789 (GRCm39)	I372F	probably damaging	Het
Tnrc6a	A	G	7: 122,770,520 (GRCm39)	D222G	probably damaging	Het
Trhde	T	G	10: 114,636,508 (GRCm39)	N233T	probably benign	Het
Tstd3	T	C	4: 21,759,475 (GRCm39)	Y99C	probably damaging	Het
Ttc22	A	T	4: 106,496,237 (GRCm39)	D429V	possibly damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm39)	N38S	probably benign	Het
Ush2a	A	G	1: 188,460,400 (GRCm39)	I2554V	possibly damaging	Het
Usp16	A	G	16: 87,276,204 (GRCm39)	D513G	probably damaging	Het
Vip	T	C	10: 5,594,992 (GRCm39)		probably null	Het
Vmn1r4	A	G	6: 56,934,023 (GRCm39)	I176V	probably benign	Het
Zfp804b	T	C	5: 6,819,806 (GRCm39)	T1050A	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
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
R5330:Herc4	UTSW	10	63,143,578 (GRCm39)	nonsense	probably null
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'- TAGAGCAGGTTGTTGCCCTGGA -3'
(R):5'- CTGGGACATCTGACAGAGTAGAACCA -3'

Sequencing Primer
(F):5'- CCTGGATGCCCAGAATATCGTAG -3'
(R):5'- CTGACAGAGTAGAACCAGCAGC -3'

Posted On

2014-05-23