Mutagenetix > Incidental Mutation

Incidental Mutation 'R1792:Herc4'

201844

Institutional Source

Beutler Lab

Gene Symbol

Herc4

Ensembl Gene

ENSMUSG00000020064

Gene Name

hect domain and RLD 4

Synonyms

4921531D01Rik, 1700056O17Rik, 9530080M15Rik

MMRRC Submission

039822-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R1792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63079589-63153657 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 63081680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

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: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: M1K

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

probably null
Transcript: ENSMUST00000218533
AA Change: M1K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219230

Predicted Effect

probably null
Transcript: ENSMUST00000219577
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219856

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	C	T	11: 110,074,870 (GRCm39)	V1398I	probably benign	Het
Ackr3	A	T	1: 90,142,620 (GRCm39)	N360Y	probably benign	Het
Acr	T	G	15: 89,457,346 (GRCm39)	M198R	probably benign	Het
Adamts14	A	T	10: 61,054,277 (GRCm39)	M585K	probably benign	Het
Adgrb3	A	T	1: 25,267,552 (GRCm39)	C853S	probably damaging	Het
Arhgef28	G	T	13: 98,067,694 (GRCm39)	S1410R	probably benign	Het
Asprv1	T	A	6: 86,605,354 (GRCm39)	F67I	possibly damaging	Het
Atp8b4	T	A	2: 126,167,214 (GRCm39)	Y1095F	probably benign	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Ccdc57	T	C	11: 120,788,707 (GRCm39)	Q380R	possibly damaging	Het
Cdc45	A	T	16: 18,626,090 (GRCm39)	D142E	probably benign	Het
Cs	A	T	10: 128,195,948 (GRCm39)	N386Y	possibly damaging	Het
Dsc3	A	T	18: 20,120,055 (GRCm39)	V201E	probably damaging	Het
Dusp26	G	T	8: 31,581,963 (GRCm39)	R19L	probably benign	Het
Esyt3	C	A	9: 99,240,169 (GRCm39)	E92*	probably null	Het
Ext2	T	C	2: 93,534,890 (GRCm39)	N625D	probably damaging	Het
Flvcr2	A	T	12: 85,793,929 (GRCm39)	K102*	probably null	Het
Fmnl2	T	A	2: 52,932,329 (GRCm39)	S103T	possibly damaging	Het
Fmo4	T	A	1: 162,621,859 (GRCm39)	I451F	probably benign	Het
Gak	A	T	5: 108,733,397 (GRCm39)	Y47*	probably null	Het
Gbp10	A	T	5: 105,372,166 (GRCm39)	L198Q	probably damaging	Het
Gm11559	T	A	11: 99,755,755 (GRCm39)	S135T	unknown	Het
Gm14496	A	T	2: 181,637,946 (GRCm39)	D340V	probably benign	Het
Grin2a	T	C	16: 9,810,259 (GRCm39)	T47A	possibly damaging	Het
Gtf2ird1	A	T	5: 134,395,790 (GRCm39)		probably null	Het
Hirip3	T	A	7: 126,461,792 (GRCm39)	V29E	probably damaging	Het
Hs3st5	A	G	10: 36,708,720 (GRCm39)	D85G	probably benign	Het
Htt	T	A	5: 35,064,543 (GRCm39)	S2981T	probably damaging	Het
Iho1	A	C	9: 108,282,111 (GRCm39)	S526A	possibly damaging	Het
Il20ra	G	A	10: 19,635,384 (GRCm39)	V542I	probably damaging	Het
Itgb2l	C	A	16: 96,226,282 (GRCm39)	C603F	probably damaging	Het
Klhl41	A	C	2: 69,501,146 (GRCm39)	K202N	probably benign	Het
Lct	G	A	1: 128,255,679 (GRCm39)	S121F	possibly damaging	Het
Lhx6	C	T	2: 35,977,387 (GRCm39)	G355D	probably damaging	Het
Limk2	A	G	11: 3,308,236 (GRCm39)	V121A	probably benign	Het
Med1	T	G	11: 98,048,109 (GRCm39)	K896Q	probably damaging	Het
Muc6	A	G	7: 141,214,371 (GRCm39)	F2789S	probably benign	Het
Nemf	T	A	12: 69,359,343 (GRCm39)	Y997F	probably damaging	Het
Nrap	A	G	19: 56,367,590 (GRCm39)	S296P	probably benign	Het
Nrxn1	T	C	17: 90,896,252 (GRCm39)	N961D	probably damaging	Het
Odad2	T	C	18: 7,286,743 (GRCm39)	T163A	probably benign	Het
Or1r1	A	C	11: 73,874,673 (GRCm39)	S254A	probably benign	Het
Or6c207	A	T	10: 129,105,112 (GRCm39)	F27I	probably benign	Het
Or6y1	T	C	1: 174,276,303 (GRCm39)	V38A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdk4	T	A	6: 5,489,166 (GRCm39)	H247L	probably damaging	Het
Pkd1l3	T	A	8: 110,359,237 (GRCm39)	V866E	probably damaging	Het
Pla2g4e	G	A	2: 119,998,955 (GRCm39)	P803L	probably damaging	Het
Pnisr	T	C	4: 21,860,968 (GRCm39)	V217A	possibly damaging	Het
Pole4	G	A	6: 82,629,720 (GRCm39)	P34L	unknown	Het
Pole4	G	T	6: 82,629,721 (GRCm39)	P34T	unknown	Het
Ptchd3	G	A	11: 121,732,377 (GRCm39)	W422*	probably null	Het
Rab1b	C	T	19: 5,150,513 (GRCm39)	A167T	probably benign	Het
Rasal1	T	C	5: 120,802,821 (GRCm39)	M359T	probably benign	Het
Rexo4	T	C	2: 26,850,248 (GRCm39)	N310D	probably benign	Het
Rgma	C	T	7: 73,067,585 (GRCm39)	T280M	probably damaging	Het
Rnaset2a	A	T	17: 8,364,408 (GRCm39)	I43N	probably damaging	Het
Rtcb	A	T	10: 85,778,446 (GRCm39)	V399E	probably damaging	Het
Scd4	T	G	19: 44,326,013 (GRCm39)	Y122*	probably null	Het
Sirt6	T	C	10: 81,462,355 (GRCm39)	I15V	possibly damaging	Het
Slamf8	A	T	1: 172,415,526 (GRCm39)	V104E	possibly damaging	Het
Slc12a4	A	G	8: 106,678,475 (GRCm39)	I285T	possibly damaging	Het
Slc25a13	G	A	6: 6,115,104 (GRCm39)	A207V	possibly damaging	Het
Slc6a21	T	C	7: 44,930,155 (GRCm39)	S185P	probably benign	Het
Smarcc2	A	C	10: 128,299,740 (GRCm39)	N135T	probably damaging	Het
Susd6	T	C	12: 80,921,065 (GRCm39)	S221P	probably damaging	Het
Syne1	C	T	10: 4,990,975 (GRCm39)	G8418D	probably damaging	Het
Tasor2	T	C	13: 3,640,559 (GRCm39)	K193E	possibly damaging	Het
Tbc1d7	C	T	13: 43,318,853 (GRCm39)	V95I	probably benign	Het
Tcerg1l	T	C	7: 137,963,595 (GRCm39)	D225G	probably benign	Het
Tfip11	A	T	5: 112,477,263 (GRCm39)	I82F	possibly damaging	Het
Tmem41a	C	T	16: 21,755,731 (GRCm39)	G192S	probably null	Het
Trrap	G	A	5: 144,790,396 (GRCm39)	A3619T	possibly damaging	Het
Tspoap1	G	A	11: 87,656,707 (GRCm39)		probably null	Het
Wfdc21	T	C	11: 83,637,883 (GRCm39)	S11P	probably benign	Het
Zc2hc1b	A	T	10: 13,044,474 (GRCm39)	V63E	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
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'- CTGAGAGAACTGACTGTCACC -3'
(R):5'- GCTGTCCTAGATCATTACATCCAC -3'

Sequencing Primer
(F):5'- GACTGTCACCCCAAGCATATTATAAG -3'
(R):5'- GTCCTAGATCATTACATCCACATGTG -3'

Posted On

2014-06-23