Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01153:Herc3'

51400

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 #

IGL01153

Quality Score

Status

Chromosome

Chromosomal Location

58808450-58897383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58837321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 331 (H331Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031823 (fasta)

Gene Model

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

AlphaFold

A6H6S0

Predicted Effect

probably benign
Transcript: ENSMUST00000031823
AA Change: H331Q

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: H331Q

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 benign
Transcript: ENSMUST00000041401
AA Change: H331Q

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: H331Q

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: ENSMUST00000154290

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,567,247 (GRCm39)	I5309V	probably benign	Het
Amy1	A	G	3: 113,349,724 (GRCm39)	V482A	possibly damaging	Het
Ankrd22	A	T	19: 34,106,229 (GRCm39)	V81E	probably damaging	Het
Ccr5	C	A	9: 123,924,649 (GRCm39)	T84K	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Chchd3	A	T	6: 32,985,502 (GRCm39)		probably benign	Het
Cpt1c	C	T	7: 44,616,092 (GRCm39)	E307K	probably damaging	Het
Cyth2	T	C	7: 45,457,813 (GRCm39)	Y120C	probably damaging	Het
Dnajb11	T	A	16: 22,681,430 (GRCm39)	D69E	probably benign	Het
Ece2	T	A	16: 20,451,544 (GRCm39)	M215K	possibly damaging	Het
Enox2	C	A	X: 48,151,015 (GRCm39)		probably null	Het
Fam120c	T	C	X: 150,182,801 (GRCm39)		probably null	Het
Fam149b	A	G	14: 20,427,949 (GRCm39)	T319A	possibly damaging	Het
Fndc1	A	T	17: 7,998,874 (GRCm39)		probably null	Het
Gcsh	T	A	8: 117,710,549 (GRCm39)	D138V	probably benign	Het
Iars1	A	G	13: 49,865,281 (GRCm39)	N586D	probably damaging	Het
Idh3g	A	G	X: 72,823,668 (GRCm39)	V280A	probably damaging	Het
Kctd18	A	G	1: 58,004,550 (GRCm39)	S115P	probably damaging	Het
Lims2	A	G	18: 32,090,370 (GRCm39)		probably null	Het
Lyset	T	A	12: 102,711,135 (GRCm39)	Y119*	probably null	Het
Mael	T	C	1: 166,029,919 (GRCm39)	K334E	possibly damaging	Het
Me3	A	C	7: 89,498,844 (GRCm39)	T475P	probably damaging	Het
Mrpl18	A	G	17: 13,134,693 (GRCm39)	L24P	possibly damaging	Het
Nol4	C	A	18: 22,902,850 (GRCm39)	R460L	probably damaging	Het
Numa1	A	T	7: 101,643,951 (GRCm39)	E181V	probably damaging	Het
Or6c2	T	A	10: 129,362,864 (GRCm39)	I256N	probably damaging	Het
Pex2	A	T	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Pex3	A	T	10: 13,428,597 (GRCm39)		probably null	Het
Psmb8	A	G	17: 34,420,215 (GRCm39)	Y269C	possibly damaging	Het
Sh2d3c	A	G	2: 32,615,096 (GRCm39)	K62R	probably benign	Het
Strn4	G	A	7: 16,571,846 (GRCm39)	G613D	probably damaging	Het
Taok2	A	G	7: 126,470,204 (GRCm39)	W875R	probably damaging	Het
Tbc1d4	T	C	14: 101,845,451 (GRCm39)	D149G	possibly damaging	Het
Zfp473	A	G	7: 44,383,992 (GRCm39)	S113P	probably damaging	Het
Zfp768	A	G	7: 126,943,703 (GRCm39)	Y145H	possibly damaging	Het
Zgrf1	G	A	3: 127,396,055 (GRCm39)	G534R	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
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

2013-06-21