Mutagenetix > Incidental Mutation

Incidental Mutation 'R2103:Herc4'

230705

Institutional Source

Beutler Lab

Gene Symbol

Herc4

Ensembl Gene

ENSMUSG00000020064

Gene Name

hect domain and RLD 4

Synonyms

4921531D01Rik, 1700056O17Rik, 9530080M15Rik

MMRRC Submission

040107-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R2103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63079589-63153657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63081889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 71 (S71P)

Ref Sequence

ENSEMBL: ENSMUSP00000151505 (fasta)

Gene Model

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

AlphaFold

Q6PAV2

Predicted Effect

probably benign
Transcript: ENSMUST00000020258
AA Change: S71P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: S71P

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: ENSMUST00000054837

SMART Domains

Protein: ENSMUSP00000054262
Gene: ENSMUSG00000045391

Domain	Start	End	E-Value	Type
low complexity region	25	49	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218100

Predicted Effect

probably benign
Transcript: ENSMUST00000218533
AA Change: S71P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219230

Predicted Effect

probably benign
Transcript: ENSMUST00000219577
AA Change: S71P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219856

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	A	3: 59,947,235 (GRCm39)	P311Q	probably damaging	Het
Acoxl	T	A	2: 127,814,526 (GRCm39)	M314K	probably damaging	Het
Agmat	A	T	4: 141,483,214 (GRCm39)	D216V	probably damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,391,098 (GRCm39)	D95V	probably damaging	Het
Aspm	G	A	1: 139,419,403 (GRCm39)	V3023M	probably damaging	Het
Atg16l2	A	G	7: 100,939,568 (GRCm39)		probably null	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Best3	A	C	10: 116,838,499 (GRCm39)	I186L	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cat	A	T	2: 103,293,660 (GRCm39)	D389E	probably damaging	Het
Cert1	T	A	13: 96,771,394 (GRCm39)	N550K	probably damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Cntnap2	G	A	6: 47,275,522 (GRCm39)	E1325K	probably damaging	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cyp26b1	A	G	6: 84,552,032 (GRCm39)	S369P	possibly damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dpyd	G	C	3: 118,858,601 (GRCm39)	S605T	probably benign	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Ebf2	T	A	14: 67,625,391 (GRCm39)	V233D	probably damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Efhc1	T	A	1: 21,059,784 (GRCm39)	C611*	probably null	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fezf1	A	G	6: 23,247,331 (GRCm39)	F248S	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gm9507	T	A	10: 77,647,500 (GRCm39)		probably benign	Het
Grin2b	A	T	6: 135,757,138 (GRCm39)	I441N	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hectd4	C	A	5: 121,493,692 (GRCm39)	D3811E	probably benign	Het
Hhipl1	A	G	12: 108,293,977 (GRCm39)	T628A	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Kndc1	C	T	7: 139,501,150 (GRCm39)	T813I	probably benign	Het
Limch1	A	G	5: 67,156,072 (GRCm39)	K394R	probably benign	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Lrrc47	C	T	4: 154,100,350 (GRCm39)	R287W	probably damaging	Het
Mdn1	T	A	4: 32,738,712 (GRCm39)	L3555Q	possibly damaging	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mei1	G	T	15: 81,991,237 (GRCm39)	V472F	probably damaging	Het
Mrps34	T	A	17: 25,114,464 (GRCm39)		probably null	Het
Myom3	A	G	4: 135,503,723 (GRCm39)	T391A	probably benign	Het
Nfib	G	A	4: 82,248,645 (GRCm39)	T314I	possibly damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p73	A	G	7: 108,064,810 (GRCm39)	N93S	probably benign	Het
Or6c5	T	C	10: 129,074,368 (GRCm39)	S117P	probably damaging	Het
Or9a2	A	G	6: 41,748,939 (GRCm39)	I98T	probably benign	Het
Pdia3	G	C	2: 121,264,474 (GRCm39)	G346A	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Ppip5k1	A	T	2: 121,152,134 (GRCm39)		probably null	Het
Psma6	T	C	12: 55,454,842 (GRCm39)	I57T	probably benign	Het
Psme2	A	T	14: 55,828,297 (GRCm39)		probably null	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sbno1	G	T	5: 124,532,000 (GRCm39)	S727R	probably damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slc4a5	A	C	6: 83,201,663 (GRCm39)	D4A	probably benign	Het
Slc4a5	G	A	6: 83,274,360 (GRCm39)	A1076T	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Sptan1	T	C	2: 29,920,483 (GRCm39)	S2320P	probably damaging	Het
Stim2	A	G	5: 54,262,591 (GRCm39)	T278A	possibly damaging	Het
Sympk	T	A	7: 18,788,041 (GRCm39)	S1186T	probably benign	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tns2	A	T	15: 102,021,100 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpsg1	T	C	17: 25,592,267 (GRCm39)	S41P	possibly damaging	Het
Trim36	T	C	18: 46,329,149 (GRCm39)	N85S	probably benign	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tssk4	A	G	14: 55,888,997 (GRCm39)	I174M	probably damaging	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r4	T	A	3: 64,322,704 (GRCm39)	N5I	possibly damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Vwf	G	A	6: 125,623,293 (GRCm39)	V1797I	probably benign	Het
Wasl	A	T	6: 24,618,377 (GRCm39)	S447T	unknown	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	probably benign	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
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'- AAGGTCATTCCAAGCATGTTGTG -3'
(R):5'- TCTTAAGCAGCACAGGAAGG -3'

Sequencing Primer
(F):5'- GCATCCTATGGACAACTAGGTTTG -3'
(R):5'- CACAGGAAGGTCAAGAGTATGTTTC -3'

Posted On

2014-09-18