Mutagenetix > Incidental Mutations

Incidental Mutation 'R0499:Herc4'

47032

Institutional Source

Beutler Lab

Gene Symbol

Herc4

Ensembl Gene

ENSMUSG00000020064

Gene Name

hect domain and RLD 4

Synonyms

MMRRC Submission

038695-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63243810-63317878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63264032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 78 (V78A)

Ref Sequence

ENSEMBL: ENSMUSP00000151886 (fasta)

Gene Model

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

AlphaFold

Q6PAV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000020258
AA Change: V78A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: V78A

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 damaging
Transcript: ENSMUST00000219577
AA Change: V78A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.5678

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,085,415	V388A	probably damaging	Het
Acpp	T	C	9: 104,320,002	E146G	probably damaging	Het
Adap2	A	T	11: 80,176,079	R276S	probably damaging	Het
Agbl3	A	T	6: 34,839,335	M727L	probably benign	Het
Ahnak	T	A	19: 9,000,264		probably benign	Het
Ankmy1	G	T	1: 92,886,226	D410E	probably damaging	Het
Ankra2	T	C	13: 98,266,454	S70P	probably damaging	Het
Aox4	T	C	1: 58,263,397		probably null	Het
Arl13b	G	A	16: 62,801,733	T399I	probably benign	Het
Atad2	A	T	15: 58,103,240	D652E	possibly damaging	Het
Atad2	T	G	15: 58,120,949	M328L	probably benign	Het
BC052040	C	T	2: 115,642,691	R101W	probably damaging	Het
Ccnb1	T	C	13: 100,780,134		probably null	Het
Ccr2	G	C	9: 124,105,939	K85N	possibly damaging	Het
Ccr2	A	T	9: 124,106,126	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,055,950	V59A	probably benign	Het
Cdkl3	T	C	11: 52,032,416	S507P	possibly damaging	Het
Celf6	C	A	9: 59,602,878	T86K	probably benign	Het
Ces1g	A	G	8: 93,333,689	F101L	probably benign	Het
Cntnap3	C	T	13: 64,858,678	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950	D534V	probably damaging	Het
Col27a1	A	G	4: 63,300,741		probably benign	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Cstf3	A	G	2: 104,649,605	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,761,217	T150A	probably benign	Het
Dnah8	T	A	17: 30,715,509	F1489L	possibly damaging	Het
Dopey2	A	T	16: 93,770,437	T1251S	probably benign	Het
Dtx2	G	A	5: 136,029,103	G421R	probably damaging	Het
Dusp27	C	A	1: 166,099,101	V981L	probably benign	Het
Epb41l3	T	A	17: 69,247,659	D251E	probably benign	Het
Erg	A	C	16: 95,360,983	Y305*	probably null	Het
Exosc4	G	A	15: 76,329,566	A197T	probably benign	Het
Fam227b	T	A	2: 126,100,909	I323L	probably benign	Het
Far1	G	T	7: 113,554,296		probably benign	Het
Fmod	A	G	1: 134,041,196	I325V	possibly damaging	Het
Fshr	C	G	17: 89,009,285	S169T	probably benign	Het
Gm17359	T	A	3: 79,405,786	W56R	probably damaging	Het
Gm17660	C	A	5: 104,074,881	G24*	probably null	Het
Gm4076	G	T	13: 85,127,226		noncoding transcript	Het
Gm5134	A	T	10: 75,992,525	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,425,203	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,254,672	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121	L268P	probably damaging	Het
Herc2	C	A	7: 56,184,369	C3107*	probably null	Het
Hyal5	T	C	6: 24,877,921	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,147,984		probably null	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Il1r2	T	A	1: 40,123,149	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097	V190L	probably benign	Het
Ipo11	T	C	13: 106,925,087	T22A	probably benign	Het
Itgb4	C	A	11: 115,979,695	R117S	probably benign	Het
Lcorl	C	G	5: 45,734,369	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,398,193		probably null	Het
Lyst	T	A	13: 13,616,713	L54I	probably damaging	Het
Mcm9	T	C	10: 53,538,154	T1015A	probably benign	Het
Mef2d	T	A	3: 88,156,518	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,397,956	N261S	probably damaging	Het
Mpdz	T	C	4: 81,292,531	T1693A	probably benign	Het
Mss51	T	A	14: 20,484,688	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,063,984	Y160N	probably damaging	Het
Muc6	T	C	7: 141,640,468	T1431A	probably benign	Het
Nek9	A	T	12: 85,301,883	M959K	probably benign	Het
Odf3l2	T	C	10: 79,640,265	D155G	probably damaging	Het
Olfr1311	A	T	2: 112,021,432	C141S	probably damaging	Het
Olfr319	G	A	11: 58,702,243	V181I	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,505	M258L	probably benign	Het
Otog	G	T	7: 46,273,832	G1044W	probably damaging	Het
Pcdh9	G	A	14: 93,886,235	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,527,651	K111R	probably damaging	Het
Pde5a	A	G	3: 122,748,458	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,937,971	V355A	probably damaging	Het
Podn	G	T	4: 108,021,594	L359I	probably damaging	Het
Psd	T	C	19: 46,322,161	E483G	probably damaging	Het
Ptch2	T	A	4: 117,111,143	L905*	probably null	Het
Rxfp2	T	A	5: 150,066,415	N420K	probably damaging	Het
Sde2	T	A	1: 180,862,427	D237E	probably benign	Het
Serpina1d	A	T	12: 103,765,757	L281Q	probably damaging	Het
Serpina9	T	C	12: 104,001,470	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,577,559	K57E	probably damaging	Het
Shc3	C	T	13: 51,480,228		probably benign	Het
Sik3	T	C	9: 46,208,740	M659T	possibly damaging	Het
Slc23a2	A	G	2: 132,072,017	L280P	probably damaging	Het
Smchd1	G	T	17: 71,387,088	Q1221K	probably benign	Het
Spocd1	A	G	4: 129,955,470	N694S	possibly damaging	Het
Tecta	T	C	9: 42,352,063	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,841,673	V172D	probably damaging	Het
Trpm3	T	C	19: 22,986,873	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,768,501	N478S	probably benign	Het
Usp36	A	G	11: 118,273,571	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,978,509	Q265L	probably damaging	Het
Vwf	A	T	6: 125,638,114	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,232,206	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,955,080		probably null	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
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
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
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
Z1176:Herc4	UTSW	10	63307749	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGCTGAAATTCCCATAGCCCAGTTTATT -3'
(R):5'- TGTGCGGTCACCTTTGTTACCTG -3'

Sequencing Primer
(F):5'- atccacctgcctctgcc -3'
(R):5'- TGTCATTCAGCGCTAACGTG -3'

Posted On

2013-06-12