Mutagenetix > Incidental Mutation

Incidental Mutation 'R3080:Herc3'

265377

Institutional Source

Beutler Lab

Gene Symbol

Herc3

Ensembl Gene

ENSMUSG00000029804

Gene Name

hect domain and RLD 3

Synonyms

5730409F18Rik

MMRRC Submission

040570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58808450-58897383 bp(+) (GRCm39)

Type of Mutation

splice site (1768 bp from exon)

DNA Base Change (assembly)

A to T at 58833631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401] [ENSMUST00000126292] [ENSMUST00000203714]

AlphaFold

A6H6S0

Predicted Effect

probably null
Transcript: ENSMUST00000031823
AA Change: K173*

SMART Domains

Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: K173*

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	36	65	3.3e-11	PFAM
Pfam:RCC1	52	99	3.6e-15	PFAM
Pfam:RCC1_2	86	115	1.1e-10	PFAM
Pfam:RCC1	102	152	1.4e-16	PFAM
Pfam:RCC1_2	139	168	2.1e-9	PFAM
Pfam:RCC1	155	205	2.6e-16	PFAM
Pfam:RCC1_2	193	221	1.5e-9	PFAM
Pfam:RCC1	208	257	4.7e-17	PFAM
Pfam:RCC1_2	244	273	8e-9	PFAM
Pfam:RCC1	260	309	2.6e-16	PFAM
Pfam:RCC1_2	296	326	2.3e-7	PFAM
Pfam:RCC1	313	377	3.8e-9	PFAM
HECTc	721	913	2.08e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000041401
AA Change: K173*

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: K173*

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	36	65	1.7e-11	PFAM
Pfam:RCC1	52	99	1.6e-15	PFAM
Pfam:RCC1_2	86	115	1.1e-10	PFAM
Pfam:RCC1	102	152	7.3e-16	PFAM
Pfam:RCC1_2	139	168	1.3e-9	PFAM
Pfam:RCC1	155	205	1.4e-16	PFAM
Pfam:RCC1_2	193	221	5e-10	PFAM
Pfam:RCC1	208	257	1.4e-16	PFAM
Pfam:RCC1_2	244	273	6.1e-8	PFAM
Pfam:RCC1	260	309	1.7e-14	PFAM
Pfam:RCC1_2	296	326	1.1e-7	PFAM
Pfam:RCC1	313	377	6.6e-11	PFAM
HECTc	721	1050	5.79e-157	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000126292

SMART Domains

Protein: ENSMUSP00000122401
Gene: ENSMUSG00000029804

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	36	65	1.5e-12	PFAM
Pfam:RCC1	52	77	1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203714

SMART Domains

Protein: ENSMUSP00000145273
Gene: ENSMUSG00000029804

Domain	Start	End	E-Value	Type
Pfam:RCC1	1	49	1.2e-4	PFAM
Pfam:RCC1_2	36	65	1.8e-10	PFAM
Pfam:RCC1	52	76	7.2e-6	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amer3	T	G	1: 34,627,503 (GRCm39)	L581V	probably benign	Het
Anks4b	A	T	7: 119,781,146 (GRCm39)	D59V	probably damaging	Het
Cdc42bpb	A	G	12: 111,262,252 (GRCm39)	I75T	probably damaging	Het
Ces1c	A	C	8: 93,846,975 (GRCm39)	L93R	probably damaging	Het
Ciao2b	G	C	8: 105,368,259 (GRCm39)	R22G	possibly damaging	Het
Clca4a	T	A	3: 144,669,551 (GRCm39)	K333N	probably damaging	Het
Copa	G	T	1: 171,940,716 (GRCm39)	D710Y	probably damaging	Het
Cyp3a25	T	A	5: 145,935,341 (GRCm39)	I92F	probably benign	Het
Dcx	T	A	X: 142,706,266 (GRCm39)	D175V	probably damaging	Het
Fam76b	G	A	9: 13,744,458 (GRCm39)	G185D	probably benign	Het
Fastkd5	T	C	2: 130,457,373 (GRCm39)	M406V	possibly damaging	Het
Fbn2	G	A	18: 58,282,122 (GRCm39)	S298L	probably damaging	Het
Gak	T	C	5: 108,761,468 (GRCm39)	K188E	possibly damaging	Het
Gemin2	G	A	12: 59,071,877 (GRCm39)	C230Y	probably damaging	Het
Gm5150	A	C	3: 16,045,085 (GRCm39)	S47A	possibly damaging	Het
H3c2	A	G	13: 23,936,481 (GRCm39)	H40R	possibly damaging	Het
Ighv5-6	T	A	12: 113,589,237 (GRCm39)	D81V	probably damaging	Het
Igkv13-54-1	A	G	6: 69,594,454 (GRCm39)		probably null	Het
Itgad	T	C	7: 127,784,959 (GRCm39)	I288T	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Ltbp3	GTA	GTATA	19: 5,806,916 (GRCm39)		probably null	Het
Map4k2	G	A	19: 6,403,218 (GRCm39)	E774K	probably damaging	Het
Mbtps1	A	G	8: 120,257,944 (GRCm39)	V431A	probably benign	Het
Mbtps1	T	C	8: 120,265,602 (GRCm39)	D315G	probably damaging	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Or14j4	T	C	17: 37,921,169 (GRCm39)	T158A	probably benign	Het
Or6d14	T	G	6: 116,534,178 (GRCm39)	V264G	probably damaging	Het
Pcdhb3	T	G	18: 37,434,535 (GRCm39)	L167R	probably damaging	Het
Pcdhb8	A	T	18: 37,489,219 (GRCm39)	E299V	probably damaging	Het
Shcbp1l	A	G	1: 153,311,783 (GRCm39)	E312G	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc1a2	T	G	2: 102,578,901 (GRCm39)	L272R	probably damaging	Het
Slc35a5	A	T	16: 44,964,758 (GRCm39)	S152T	probably benign	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tbr1	C	T	2: 61,637,635 (GRCm39)	Q65*	probably null	Het
Tro	G	A	X: 149,438,198 (GRCm39)	T153I	probably benign	Het
Vmn1r222	A	G	13: 23,416,631 (GRCm39)	M194T	possibly damaging	Het
Vmn2r1	A	G	3: 63,997,205 (GRCm39)	D287G	probably damaging	Het
Vmn2r91	T	G	17: 18,355,973 (GRCm39)		probably null	Het
Zfp35	T	A	18: 24,136,367 (GRCm39)	I237N	probably damaging	Het

Other mutations in Herc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Herc3	APN	6	58,851,248 (GRCm39)	missense	probably damaging	1.00
IGL00423:Herc3	APN	6	58,845,700 (GRCm39)	missense	probably damaging	0.99
IGL00468:Herc3	APN	6	58,895,751 (GRCm39)	missense	probably benign	0.04
IGL01153:Herc3	APN	6	58,837,321 (GRCm39)	missense	probably benign	0.21
IGL01468:Herc3	APN	6	58,831,880 (GRCm39)	missense	probably benign	0.00
IGL01696:Herc3	APN	6	58,837,371 (GRCm39)	missense	possibly damaging	0.58
IGL01975:Herc3	APN	6	58,893,561 (GRCm39)	missense	possibly damaging	0.91
IGL02797:Herc3	APN	6	58,845,679 (GRCm39)	missense	probably benign
IGL02953:Herc3	APN	6	58,834,718 (GRCm39)	nonsense	probably null
aegean	UTSW	6	58,832,745 (GRCm39)	nonsense	probably null
PIT4519001:Herc3	UTSW	6	58,853,796 (GRCm39)	missense	probably damaging	1.00
R0019:Herc3	UTSW	6	58,862,050 (GRCm39)	splice site	probably benign
R0019:Herc3	UTSW	6	58,862,050 (GRCm39)	splice site	probably benign
R0025:Herc3	UTSW	6	58,851,293 (GRCm39)	missense	probably damaging	1.00
R0025:Herc3	UTSW	6	58,851,293 (GRCm39)	missense	probably damaging	1.00
R0268:Herc3	UTSW	6	58,845,613 (GRCm39)	splice site	probably benign
R0334:Herc3	UTSW	6	58,895,802 (GRCm39)	missense	probably damaging	1.00
R0344:Herc3	UTSW	6	58,845,613 (GRCm39)	splice site	probably benign
R0853:Herc3	UTSW	6	58,853,549 (GRCm39)	missense	probably damaging	1.00
R0927:Herc3	UTSW	6	58,845,748 (GRCm39)	missense	possibly damaging	0.48
R1333:Herc3	UTSW	6	58,864,478 (GRCm39)	missense	probably damaging	1.00
R1432:Herc3	UTSW	6	58,893,827 (GRCm39)	missense	possibly damaging	0.49
R1450:Herc3	UTSW	6	58,853,500 (GRCm39)	nonsense	probably null
R1594:Herc3	UTSW	6	58,864,569 (GRCm39)	unclassified	probably benign
R1757:Herc3	UTSW	6	58,893,455 (GRCm39)	missense	probably damaging	1.00
R1765:Herc3	UTSW	6	58,865,645 (GRCm39)	missense	probably damaging	0.99
R1932:Herc3	UTSW	6	58,853,778 (GRCm39)	missense	probably damaging	0.99
R1945:Herc3	UTSW	6	58,864,424 (GRCm39)	missense	probably damaging	0.96
R1988:Herc3	UTSW	6	58,861,960 (GRCm39)	critical splice donor site	probably null
R2172:Herc3	UTSW	6	58,864,422 (GRCm39)	missense	probably damaging	1.00
R3545:Herc3	UTSW	6	58,833,670 (GRCm39)	missense	probably damaging	1.00
R3767:Herc3	UTSW	6	58,853,587 (GRCm39)	missense	probably benign	0.00
R3767:Herc3	UTSW	6	58,839,973 (GRCm39)	missense	probably benign
R3805:Herc3	UTSW	6	58,893,835 (GRCm39)	missense	probably damaging	1.00
R3806:Herc3	UTSW	6	58,893,835 (GRCm39)	missense	probably damaging	1.00
R4049:Herc3	UTSW	6	58,853,822 (GRCm39)	missense	probably damaging	0.99
R4250:Herc3	UTSW	6	58,893,501 (GRCm39)	missense	probably damaging	1.00
R4469:Herc3	UTSW	6	58,853,794 (GRCm39)	nonsense	probably null
R4534:Herc3	UTSW	6	58,837,332 (GRCm39)	missense	probably benign
R4573:Herc3	UTSW	6	58,871,098 (GRCm39)	missense	possibly damaging	0.89
R4887:Herc3	UTSW	6	58,864,484 (GRCm39)	missense	probably damaging	1.00
R5047:Herc3	UTSW	6	58,832,745 (GRCm39)	nonsense	probably null
R5049:Herc3	UTSW	6	58,871,524 (GRCm39)	splice site	probably null
R5062:Herc3	UTSW	6	58,832,745 (GRCm39)	nonsense	probably null
R5063:Herc3	UTSW	6	58,832,745 (GRCm39)	nonsense	probably null
R5288:Herc3	UTSW	6	58,851,263 (GRCm39)	missense	probably damaging	0.99
R5297:Herc3	UTSW	6	58,833,626 (GRCm39)	missense	probably damaging	1.00
R5386:Herc3	UTSW	6	58,851,263 (GRCm39)	missense	probably damaging	0.99
R5435:Herc3	UTSW	6	58,832,791 (GRCm39)	missense	probably damaging	1.00
R5576:Herc3	UTSW	6	58,865,710 (GRCm39)	missense	probably benign	0.08
R5605:Herc3	UTSW	6	58,834,712 (GRCm39)	missense	probably damaging	1.00
R5719:Herc3	UTSW	6	58,871,528 (GRCm39)	missense	possibly damaging	0.67
R5743:Herc3	UTSW	6	58,895,784 (GRCm39)	missense	probably benign	0.12
R5870:Herc3	UTSW	6	58,893,435 (GRCm39)	missense	probably benign	0.01
R6460:Herc3	UTSW	6	58,867,108 (GRCm39)	missense	probably damaging	1.00
R6930:Herc3	UTSW	6	58,893,444 (GRCm39)	missense	probably damaging	0.98
R7034:Herc3	UTSW	6	58,853,840 (GRCm39)	missense	probably benign	0.00
R7131:Herc3	UTSW	6	58,864,409 (GRCm39)	missense	probably damaging	1.00
R7187:Herc3	UTSW	6	58,833,616 (GRCm39)	missense	probably benign	0.42
R7212:Herc3	UTSW	6	58,895,758 (GRCm39)	missense	probably damaging	1.00
R7335:Herc3	UTSW	6	58,853,773 (GRCm39)	missense	possibly damaging	0.95
R7349:Herc3	UTSW	6	58,835,971 (GRCm39)	missense	probably benign
R7568:Herc3	UTSW	6	58,820,795 (GRCm39)	missense	probably benign	0.01
R7857:Herc3	UTSW	6	58,820,637 (GRCm39)	nonsense	probably null
R8321:Herc3	UTSW	6	58,820,754 (GRCm39)	missense	possibly damaging	0.93
R8672:Herc3	UTSW	6	58,850,786 (GRCm39)	missense	probably damaging	0.96
R8684:Herc3	UTSW	6	58,864,561 (GRCm39)	missense	probably damaging	1.00
R8968:Herc3	UTSW	6	58,867,183 (GRCm39)	missense	probably damaging	1.00
R8994:Herc3	UTSW	6	58,851,328 (GRCm39)	missense	probably benign	0.11
R9219:Herc3	UTSW	6	58,871,552 (GRCm39)	missense	probably benign	0.01
R9434:Herc3	UTSW	6	58,853,846 (GRCm39)	missense	probably benign	0.00
R9562:Herc3	UTSW	6	58,835,999 (GRCm39)	missense	probably null	0.01
R9565:Herc3	UTSW	6	58,835,999 (GRCm39)	missense	probably null	0.01
Z1176:Herc3	UTSW	6	58,820,843 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCTTTGAAGGCCACTGAGG -3'
(R):5'- TGGTTTGGAACTGGAGTATATACAAAG -3'

Sequencing Primer
(F):5'- CTCTCTGGTCAAATGCTAATTTAGGC -3'
(R):5'- AGCTGCCCTGCATTATTC -3'

Posted On

2015-02-05