Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00092:Hecw2'

1996

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: 0.180) question?

Stock #

IGL00092

Quality Score

Status

Chromosome

Chromosomal Location

53846031-54234193 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53869896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1444 (V1444A)

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: V1444A

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

SMART Domains

Protein: ENSMUSP00000084942
Gene: ENSMUSG00000042807
AA Change: V1444A

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: V1444A

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

SMART Domains

Protein: ENSMUSP00000113283
Gene: ENSMUSG00000042807
AA Change: V1444A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150677

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,892,430 (GRCm39)	D443G	probably benign	Het
Atg16l1	T	C	1: 87,693,119 (GRCm39)	I28T	possibly damaging	Het
Bpi	T	A	2: 158,116,716 (GRCm39)	V371E	probably damaging	Het
Cd109	T	G	9: 78,524,251 (GRCm39)	V55G	probably damaging	Het
Cd300c2	T	C	11: 114,892,375 (GRCm39)		probably benign	Het
Cic	C	T	7: 24,991,549 (GRCm39)	R1280C	probably damaging	Het
Cngb1	G	A	8: 95,968,812 (GRCm39)		probably benign	Het
Cntn4	G	T	6: 106,483,186 (GRCm39)	C247F	probably damaging	Het
Disp3	C	T	4: 148,325,991 (GRCm39)	V1256I	probably benign	Het
Farsb	A	T	1: 78,439,630 (GRCm39)	S338T	probably benign	Het
Fcnb	T	C	2: 27,966,813 (GRCm39)	N240S	probably benign	Het
Flg2	A	G	3: 93,127,162 (GRCm39)	S5G	possibly damaging	Het
Git1	T	C	11: 77,396,783 (GRCm39)	L635P	probably benign	Het
Gm21985	T	G	2: 112,181,679 (GRCm39)	W685G	probably damaging	Het
Gpt2	T	C	8: 86,238,953 (GRCm39)	V262A	probably benign	Het
Herc1	T	C	9: 66,391,248 (GRCm39)	V4017A	probably benign	Het
Klhl17	T	C	4: 156,318,147 (GRCm39)	T129A	possibly damaging	Het
Krt84	T	G	15: 101,437,170 (GRCm39)	D331A	probably damaging	Het
Lrrc9	C	T	12: 72,533,017 (GRCm39)	T963M	possibly damaging	Het
Mtcl1	C	T	17: 66,651,314 (GRCm39)	V935I	probably benign	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myocd	T	C	11: 65,071,770 (GRCm39)		probably null	Het
Nid1	A	G	13: 13,650,977 (GRCm39)	N505D	probably damaging	Het
Ninj1	A	T	13: 49,347,210 (GRCm39)		probably null	Het
Or14a260	C	T	7: 85,985,269 (GRCm39)	V112I	probably benign	Het
Or1x6	C	A	11: 50,939,227 (GRCm39)	Q98K	probably benign	Het
Or4d10c	A	T	19: 12,065,357 (GRCm39)	D266E	probably benign	Het
Plscr2	T	A	9: 92,172,685 (GRCm39)		probably benign	Het
Ppfia2	A	G	10: 106,655,353 (GRCm39)	T307A	probably benign	Het
Sart3	T	C	5: 113,884,730 (GRCm39)	R625G	probably benign	Het
Sohlh2	T	A	3: 55,115,236 (GRCm39)	L407H	probably damaging	Het
Sorcs1	A	G	19: 50,178,492 (GRCm39)	S877P	probably damaging	Het
Stat1	T	C	1: 52,161,754 (GRCm39)	M1T	probably null	Het
Szt2	C	T	4: 118,241,447 (GRCm39)		probably benign	Het
Tars3	G	T	7: 65,302,007 (GRCm39)		probably null	Het
Terb2	T	A	2: 122,028,867 (GRCm39)	S141R	probably benign	Het
Tgfbrap1	T	C	1: 43,099,283 (GRCm39)	Y177C	probably damaging	Het
Trappc9	A	T	15: 72,897,875 (GRCm39)	I169N	possibly damaging	Het
Trim47	A	G	11: 115,997,020 (GRCm39)	L578P	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Vmn2r90	T	C	17: 17,953,758 (GRCm39)	S641P	probably benign	Het
Vwa5a	T	A	9: 38,649,110 (GRCm39)		probably null	Het
Zzef1	T	A	11: 72,765,952 (GRCm39)	I1493N	probably benign	Het

Other mutations in Hecw2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01503:Hecw2	APN	1	53,866,120 (GRCm39)	missense	probably damaging	1.00
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

2011-07-12