Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00468:Herc3'

5437

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Herc3

Ensembl Gene

ENSMUSG00000029804

Gene Name

hect domain and RLD 3

Synonyms

5730409F18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00468

Quality Score

Status

Chromosome

Chromosomal Location

58808450-58897383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58895751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1000 (I1000V)

Ref Sequence

ENSEMBL: ENSMUSP00000040025 (fasta)

Gene Model

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

AlphaFold

A6H6S0

Predicted Effect

probably benign
Transcript: ENSMUST00000041401
AA Change: I1000V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: I1000V

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

noncoding transcript
Transcript: ENSMUST00000131132

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,630,453 (GRCm39)	E123G	probably damaging	Het
Alpk2	A	T	18: 65,438,894 (GRCm39)	L1300Q	probably benign	Het
Armc9	T	C	1: 86,126,061 (GRCm39)	Y51H	probably damaging	Het
Bcl11b	A	G	12: 107,932,074 (GRCm39)	V166A	possibly damaging	Het
Cfap70	T	A	14: 20,462,530 (GRCm39)	D565V	possibly damaging	Het
Cops5	C	A	1: 10,104,295 (GRCm39)	G132W	probably damaging	Het
Dync1i1	G	A	6: 5,972,135 (GRCm39)	V468M	probably damaging	Het
Fasn	A	C	11: 120,711,365 (GRCm39)	D216E	probably damaging	Het
Fktn	T	A	4: 53,734,866 (GRCm39)	I168K	probably benign	Het
Gal3st2c	A	G	1: 93,936,771 (GRCm39)	R239G	probably benign	Het
Glt6d1	A	C	2: 25,701,041 (GRCm39)	L36R	probably damaging	Het
Hycc2	T	G	1: 58,569,391 (GRCm39)	E396A	probably benign	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Lhcgr	C	T	17: 89,049,874 (GRCm39)	V551I	probably benign	Het
Lmna	G	T	3: 88,391,991 (GRCm39)	S437R	probably benign	Het
Lrrc49	A	G	9: 60,595,151 (GRCm39)		probably benign	Het
Lrriq3	A	G	3: 154,806,816 (GRCm39)	D155G	probably damaging	Het
Mcf2	G	A	X: 59,179,095 (GRCm39)	T104I	probably damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mipep	A	G	14: 61,112,709 (GRCm39)	E664G	probably benign	Het
Mybpc1	A	T	10: 88,385,124 (GRCm39)	V519D	probably damaging	Het
Nfil3	C	A	13: 53,121,610 (GRCm39)	L431F	probably damaging	Het
Sctr	T	A	1: 119,972,450 (GRCm39)	V197E	probably damaging	Het
Sesn2	T	C	4: 132,227,124 (GRCm39)	T103A	probably benign	Het
Sptbn4	A	T	7: 27,117,390 (GRCm39)	V453D	probably damaging	Het
Supt5	A	T	7: 28,014,807 (GRCm39)	H1023Q	probably benign	Het
Tcof1	T	C	18: 60,947,640 (GRCm39)		probably benign	Het
Tekt2	T	A	4: 126,216,982 (GRCm39)	E262D	possibly damaging	Het
Tenm4	T	A	7: 96,523,679 (GRCm39)	H1732Q	probably damaging	Het
Tln2	T	C	9: 67,251,469 (GRCm39)	D840G	possibly damaging	Het
Tox4	A	G	14: 52,523,202 (GRCm39)	D54G	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
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
R3080:Herc3	UTSW	6	58,833,631 (GRCm39)	splice site	probably null
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

Posted On

2012-04-20