Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02953:Herc3'

365009

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 #

IGL02953

Quality Score

Status

Chromosome

Chromosomal Location

58808450-58897383 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 58834718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 242 (Q242*)

Ref Sequence

ENSEMBL: ENSMUSP00000040025 (fasta)

Gene Model

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

AlphaFold

A6H6S0

Predicted Effect

probably null
Transcript: ENSMUST00000031823
AA Change: Q242*

SMART Domains

Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: Q242*

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: Q242*

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: Q242*

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 benign
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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	G	16: 88,570,534 (GRCm39)	S169P	possibly damaging	Het
Adap2	G	A	11: 80,045,126 (GRCm39)	G29R	probably damaging	Het
Adcy2	A	T	13: 68,877,447 (GRCm39)	I431N	probably damaging	Het
Amer3	T	C	1: 34,626,877 (GRCm39)	V372A	probably damaging	Het
Aspm	T	A	1: 139,385,157 (GRCm39)	V267D	probably benign	Het
Atp6v0b	A	T	4: 117,742,419 (GRCm39)	V111E	probably damaging	Het
Cep20	T	C	16: 14,122,339 (GRCm39)	K142E	probably benign	Het
Clmp	T	A	9: 40,685,683 (GRCm39)	L193Q	probably damaging	Het
Dcaf7	T	G	11: 105,942,702 (GRCm39)	Y216*	probably null	Het
Dcbld2	T	A	16: 58,272,100 (GRCm39)	D385E	probably benign	Het
Des	T	A	1: 75,340,288 (GRCm39)	D398E	possibly damaging	Het
Fancm	C	T	12: 65,168,740 (GRCm39)	T1701I	probably benign	Het
Fat1	C	A	8: 45,477,351 (GRCm39)	D2132E	probably damaging	Het
Fkbp14	T	C	6: 54,556,667 (GRCm39)	K161R	probably damaging	Het
Fuca2	C	T	10: 13,383,173 (GRCm39)		probably benign	Het
Habp2	T	A	19: 56,302,664 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Igkv4-81	T	C	6: 68,967,981 (GRCm39)	K40R	probably benign	Het
Irf5	C	A	6: 29,536,671 (GRCm39)	H461N	possibly damaging	Het
Lypd11	C	T	7: 24,422,991 (GRCm39)	C109Y	probably damaging	Het
Nav2	G	A	7: 49,198,171 (GRCm39)	V1267M	probably damaging	Het
Nlk	A	G	11: 78,517,527 (GRCm39)	V155A	probably benign	Het
Nup214	C	T	2: 31,878,241 (GRCm39)	H303Y	possibly damaging	Het
Pld1	A	C	3: 28,166,396 (GRCm39)	M812L	probably benign	Het
Rab11fip3	C	A	17: 26,286,653 (GRCm39)	R500L	possibly damaging	Het
Secisbp2l	C	T	2: 125,602,194 (GRCm39)	E389K	probably benign	Het
Serpina3a	C	T	12: 104,082,748 (GRCm39)	R174C	probably benign	Het
Spef2	T	C	15: 9,713,329 (GRCm39)	R405G	possibly damaging	Het
Srpx	A	T	X: 9,983,706 (GRCm39)		probably benign	Het
St18	T	A	1: 6,914,337 (GRCm39)		probably benign	Het
Tcerg1	C	T	18: 42,681,535 (GRCm39)	P561S	probably damaging	Het
Topbp1	T	A	9: 103,205,634 (GRCm39)	N757K	probably benign	Het
Trrap	G	T	5: 144,752,774 (GRCm39)	L1782F	probably damaging	Het
Tut1	G	T	19: 8,940,056 (GRCm39)	V347L	probably damaging	Het
Txnip	T	A	3: 96,465,682 (GRCm39)	V44D	probably damaging	Het
Usp8	C	T	2: 126,579,857 (GRCm39)	T369I	probably benign	Het
Zzef1	A	G	11: 72,746,224 (GRCm39)	N842S	probably benign	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
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

2015-12-18