Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01503:Hecw2'

88945

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hecw2

Ensembl Gene

ENSMUSG00000042807

Gene Name

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

Synonyms

A730039N16Rik, Nedl2, D030049F17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

IGL01503

Quality Score

Status

Chromosome

Chromosomal Location

53846031-54234193 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53866120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1514 (Y1514H)

Ref Sequence

ENSEMBL: ENSMUSP00000113283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087659] [ENSMUST00000120904]

AlphaFold

Q6I6G8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087659
AA Change: Y1514H

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

SMART Domains

Protein: ENSMUSP00000084942
Gene: ENSMUSG00000042807
AA Change: Y1514H

Domain	Start	End	E-Value	Type
Pfam:HECW_N	45	164	4.6e-62	PFAM
low complexity region	165	178	N/A	INTRINSIC
C2	186	297	2.19e-12	SMART
low complexity region	577	596	N/A	INTRINSIC
low complexity region	716	735	N/A	INTRINSIC
low complexity region	746	755	N/A	INTRINSIC
low complexity region	769	786	N/A	INTRINSIC
WW	814	846	1.21e-11	SMART
coiled coil region	853	880	N/A	INTRINSIC
low complexity region	913	925	N/A	INTRINSIC
WW	992	1024	2.12e-7	SMART
Blast:HECTc	1111	1183	2e-23	BLAST
HECTc	1241	1578	8.02e-183	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120904
AA Change: Y1514H

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

SMART Domains

Protein: ENSMUSP00000113283
Gene: ENSMUSG00000042807
AA Change: Y1514H

Domain	Start	End	E-Value	Type
PDB:2LFE\|A	42	162	6e-80	PDB
low complexity region	165	178	N/A	INTRINSIC
C2	186	297	2.19e-12	SMART
low complexity region	577	596	N/A	INTRINSIC
low complexity region	716	735	N/A	INTRINSIC
low complexity region	746	755	N/A	INTRINSIC
low complexity region	769	786	N/A	INTRINSIC
WW	814	846	1.21e-11	SMART
coiled coil region	853	880	N/A	INTRINSIC
low complexity region	913	925	N/A	INTRINSIC
WW	992	1024	2.12e-7	SMART
Blast:HECTc	1111	1183	2e-23	BLAST
HECTc	1241	1578	8.02e-183	SMART

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 of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	A	16: 88,971,757 (GRCm39)	Y26*	probably null	Het
Aadacl4fm4	T	A	4: 144,401,137 (GRCm39)	I116F	probably damaging	Het
Arpc1a	T	C	5: 145,032,964 (GRCm39)	V91A	probably damaging	Het
Atp2a1	T	A	7: 126,047,750 (GRCm39)	I687F	probably damaging	Het
B3gnt5	A	C	16: 19,588,531 (GRCm39)	Y250S	probably damaging	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
C1s2	T	C	6: 124,602,612 (GRCm39)	D527G	probably damaging	Het
Chrna5	T	A	9: 54,905,455 (GRCm39)		probably benign	Het
Cltc	C	A	11: 86,586,526 (GRCm39)		probably benign	Het
Dgkh	T	G	14: 78,853,710 (GRCm39)	I439L	possibly damaging	Het
Dnajc16	G	A	4: 141,491,008 (GRCm39)	T714I	possibly damaging	Het
Fam13a	A	T	6: 58,933,065 (GRCm39)	I349N	probably damaging	Het
Fig4	C	T	10: 41,132,514 (GRCm39)	D431N	probably benign	Het
Gabra4	A	T	5: 71,798,429 (GRCm39)	N183K	possibly damaging	Het
Ggt5	C	T	10: 75,445,944 (GRCm39)		probably benign	Het
Hdac6	A	G	X: 7,798,418 (GRCm39)	L798P	probably damaging	Het
Hectd4	T	C	5: 121,456,714 (GRCm39)	V2030A	probably benign	Het
Hmcn1	T	C	1: 150,480,823 (GRCm39)	D4451G	probably benign	Het
Krtcap3	T	C	5: 31,409,167 (GRCm39)		probably benign	Het
Ltn1	A	T	16: 87,217,695 (GRCm39)		probably benign	Het
Mapkapk2	T	C	1: 130,986,499 (GRCm39)	M1V	probably null	Het
Mical3	A	T	6: 120,935,537 (GRCm39)	I1663N	probably benign	Het
Mvp	G	T	7: 126,601,133 (GRCm39)		probably benign	Het
Myo5c	A	G	9: 75,170,324 (GRCm39)	I485V	probably damaging	Het
N4bp2	T	A	5: 65,960,890 (GRCm39)	C520*	probably null	Het
Nos2	A	G	11: 78,836,689 (GRCm39)		probably benign	Het
Ogdh	G	A	11: 6,305,069 (GRCm39)	V925M	probably damaging	Het
Pde2a	T	A	7: 101,151,143 (GRCm39)		probably benign	Het
Plpp6	A	G	19: 28,942,279 (GRCm39)	*293W	probably null	Het
Pole	T	A	5: 110,451,750 (GRCm39)	I864K	probably damaging	Het
Rexo4	A	T	2: 26,850,645 (GRCm39)	I239N	probably benign	Het
Scn1a	T	A	2: 66,152,687 (GRCm39)	I748F	probably damaging	Het
Sfmbt2	A	T	2: 10,584,165 (GRCm39)	R841*	probably null	Het
Sh3bp5l	A	G	11: 58,228,827 (GRCm39)	N100S	probably damaging	Het
Spic	T	A	10: 88,511,623 (GRCm39)	D211V	probably damaging	Het
Stab2	A	G	10: 86,776,477 (GRCm39)		probably benign	Het
Tshr	A	G	12: 91,478,708 (GRCm39)	Y83C	probably damaging	Het
Vsir	A	G	10: 60,204,373 (GRCm39)	E172G	probably damaging	Het
Wwp2	T	C	8: 108,276,413 (GRCm39)	S508P	probably damaging	Het

Other mutations in Hecw2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Hecw2	APN	1	53,869,896 (GRCm39)	missense	probably damaging	1.00
IGL00338:Hecw2	APN	1	53,867,040 (GRCm39)	splice site	probably benign
IGL00530:Hecw2	APN	1	53,892,439 (GRCm39)	missense	probably damaging	1.00
IGL01343:Hecw2	APN	1	53,866,135 (GRCm39)	missense	probably damaging	0.96
IGL01989:Hecw2	APN	1	53,879,951 (GRCm39)	missense	probably damaging	1.00
IGL02016:Hecw2	APN	1	53,870,702 (GRCm39)	missense	possibly damaging	0.73
IGL02052:Hecw2	APN	1	53,965,670 (GRCm39)	missense	probably benign
IGL02085:Hecw2	APN	1	53,981,961 (GRCm39)	critical splice acceptor site	probably null
IGL02302:Hecw2	APN	1	53,972,407 (GRCm39)	missense	probably damaging	1.00
IGL02310:Hecw2	APN	1	53,963,075 (GRCm39)	missense	probably null	0.38
IGL02388:Hecw2	APN	1	53,964,858 (GRCm39)	missense	probably benign	0.17
IGL02499:Hecw2	APN	1	53,965,647 (GRCm39)	missense	probably benign
IGL02695:Hecw2	APN	1	53,965,368 (GRCm39)	missense	possibly damaging	0.94
IGL02732:Hecw2	APN	1	53,965,847 (GRCm39)	splice site	probably benign
IGL03100:Hecw2	APN	1	53,870,815 (GRCm39)	missense	probably damaging	1.00
IGL03175:Hecw2	APN	1	53,965,416 (GRCm39)	missense	possibly damaging	0.51
IGL03253:Hecw2	APN	1	53,871,875 (GRCm39)	missense	possibly damaging	0.85
IGL03356:Hecw2	APN	1	53,966,217 (GRCm39)	splice site	probably benign
Memoriam	UTSW	1	53,965,215 (GRCm39)	missense	probably benign
recollect	UTSW	1	53,943,581 (GRCm39)	missense	possibly damaging	0.88
ANU74:Hecw2	UTSW	1	53,964,853 (GRCm39)	missense	probably benign	0.01
R0077:Hecw2	UTSW	1	53,907,990 (GRCm39)	splice site	probably benign
R0133:Hecw2	UTSW	1	53,869,899 (GRCm39)	missense	probably damaging	1.00
R0268:Hecw2	UTSW	1	53,965,857 (GRCm39)	splice site	probably benign
R1303:Hecw2	UTSW	1	54,079,552 (GRCm39)	missense	probably benign	0.00
R1460:Hecw2	UTSW	1	53,852,404 (GRCm39)	missense	probably damaging	0.96
R1524:Hecw2	UTSW	1	53,890,777 (GRCm39)	missense	probably damaging	1.00
R1533:Hecw2	UTSW	1	53,965,704 (GRCm39)	splice site	probably null
R1828:Hecw2	UTSW	1	53,965,182 (GRCm39)	missense	probably benign
R2170:Hecw2	UTSW	1	53,981,956 (GRCm39)	missense	probably damaging	0.99
R2338:Hecw2	UTSW	1	53,943,581 (GRCm39)	missense	possibly damaging	0.88
R3016:Hecw2	UTSW	1	53,869,839 (GRCm39)	missense	probably damaging	1.00
R3872:Hecw2	UTSW	1	53,871,916 (GRCm39)	splice site	probably benign
R3892:Hecw2	UTSW	1	53,965,280 (GRCm39)	missense	probably benign	0.01
R4086:Hecw2	UTSW	1	53,870,815 (GRCm39)	missense	probably damaging	1.00
R4247:Hecw2	UTSW	1	53,871,804 (GRCm39)	missense	probably damaging	1.00
R4248:Hecw2	UTSW	1	53,871,804 (GRCm39)	missense	probably damaging	1.00
R4249:Hecw2	UTSW	1	53,871,804 (GRCm39)	missense	probably damaging	1.00
R4545:Hecw2	UTSW	1	53,852,381 (GRCm39)	makesense	probably null
R4805:Hecw2	UTSW	1	53,880,018 (GRCm39)	missense	probably damaging	1.00
R4834:Hecw2	UTSW	1	53,869,911 (GRCm39)	missense	probably damaging	1.00
R4884:Hecw2	UTSW	1	53,990,000 (GRCm39)	missense	probably benign	0.03
R4983:Hecw2	UTSW	1	53,871,830 (GRCm39)	missense	probably benign	0.42
R5168:Hecw2	UTSW	1	53,952,459 (GRCm39)	missense	probably damaging	1.00
R5482:Hecw2	UTSW	1	53,965,360 (GRCm39)	missense	probably benign	0.09
R5549:Hecw2	UTSW	1	53,964,850 (GRCm39)	missense	possibly damaging	0.91
R5623:Hecw2	UTSW	1	53,871,782 (GRCm39)	missense	probably null	1.00
R5740:Hecw2	UTSW	1	53,926,762 (GRCm39)	missense	probably benign	0.12
R5919:Hecw2	UTSW	1	53,976,249 (GRCm39)	missense	probably damaging	0.99
R6058:Hecw2	UTSW	1	53,963,135 (GRCm39)	missense	possibly damaging	0.67
R6460:Hecw2	UTSW	1	53,907,992 (GRCm39)	splice site	probably null
R6875:Hecw2	UTSW	1	53,976,291 (GRCm39)	missense	probably benign	0.01
R7097:Hecw2	UTSW	1	53,904,283 (GRCm39)	missense	possibly damaging	0.88
R7131:Hecw2	UTSW	1	53,904,280 (GRCm39)	missense	probably damaging	1.00
R7291:Hecw2	UTSW	1	53,953,753 (GRCm39)	missense	probably damaging	1.00
R7401:Hecw2	UTSW	1	53,943,502 (GRCm39)	missense	probably damaging	1.00
R7482:Hecw2	UTSW	1	54,079,629 (GRCm39)	missense	probably damaging	0.99
R7501:Hecw2	UTSW	1	53,953,031 (GRCm39)	critical splice acceptor site	probably null
R7520:Hecw2	UTSW	1	53,965,215 (GRCm39)	missense	probably benign
R7611:Hecw2	UTSW	1	53,952,459 (GRCm39)	missense	probably damaging	1.00
R8184:Hecw2	UTSW	1	54,079,546 (GRCm39)	missense	probably benign	0.37
R8286:Hecw2	UTSW	1	53,879,928 (GRCm39)	missense	probably damaging	1.00
R8300:Hecw2	UTSW	1	53,926,775 (GRCm39)	missense	probably null	0.07
R8354:Hecw2	UTSW	1	53,964,467 (GRCm39)	critical splice donor site	probably null
R8362:Hecw2	UTSW	1	54,079,650 (GRCm39)	start codon destroyed	probably null	0.51
R8691:Hecw2	UTSW	1	53,904,223 (GRCm39)	missense	probably benign	0.26
R8745:Hecw2	UTSW	1	53,972,330 (GRCm39)	missense	probably damaging	1.00
R8769:Hecw2	UTSW	1	53,952,507 (GRCm39)	missense	probably benign	0.00
R8830:Hecw2	UTSW	1	53,930,305 (GRCm39)	missense	probably damaging	1.00
R8842:Hecw2	UTSW	1	53,990,033 (GRCm39)	missense
R8874:Hecw2	UTSW	1	53,943,608 (GRCm39)	splice site	probably benign
R9064:Hecw2	UTSW	1	53,866,045 (GRCm39)	missense	probably benign	0.08
R9326:Hecw2	UTSW	1	54,079,369 (GRCm39)	missense	probably damaging	1.00
R9450:Hecw2	UTSW	1	53,878,188 (GRCm39)	nonsense	probably null
R9486:Hecw2	UTSW	1	53,852,466 (GRCm39)	missense	probably damaging	1.00
R9763:Hecw2	UTSW	1	53,963,074 (GRCm39)	missense	probably damaging	1.00
R9766:Hecw2	UTSW	1	53,904,287 (GRCm39)	missense	probably damaging	1.00
Z1177:Hecw2	UTSW	1	53,963,102 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-12-03