Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02388:Hecw2'

291616

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?

Possibly non essential (E-score: 0.311) question?

Stock #

IGL02388

Quality Score

Status

Chromosome

Chromosomal Location

53806876-54195168 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53925699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 656 (V656A)

Ref Sequence

ENSEMBL: ENSMUSP00000113283 (fasta)

Gene Model

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

AlphaFold

Q6I6G8

Predicted Effect

probably benign
Transcript: ENSMUST00000087659
AA Change: V656A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084942
Gene: ENSMUSG00000042807
AA Change: V656A

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 benign
Transcript: ENSMUST00000120904
AA Change: V656A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113283
Gene: ENSMUSG00000042807
AA Change: V656A

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930597O21Rik	A	T	6: 66,896,113 (GRCm38)		probably benign	Het
Abca8a	A	G	11: 110,078,815 (GRCm38)		probably benign	Het
Asphd1	A	T	7: 126,946,712 (GRCm38)		probably benign	Het
Ccdc77	G	A	6: 120,331,897 (GRCm38)	A301V	probably benign	Het
Cep350	G	T	1: 155,953,753 (GRCm38)	T135K	probably benign	Het
Chrna7	A	T	7: 63,107,691 (GRCm38)	D153E	probably damaging	Het
Clec4b2	G	T	6: 123,202,228 (GRCm38)		probably null	Het
Cyp2c67	T	C	19: 39,643,355 (GRCm38)	N133D	probably benign	Het
Dglucy	T	C	12: 100,856,998 (GRCm38)	I484T	probably damaging	Het
Dtna	G	T	18: 23,597,514 (GRCm38)	M319I	probably benign	Het
E2f5	T	A	3: 14,588,280 (GRCm38)	M152K	probably benign	Het
Emsy	A	T	7: 98,641,666 (GRCm38)	M58K	probably damaging	Het
Epha1	A	G	6: 42,365,016 (GRCm38)	Y367H	probably damaging	Het
Etv1	A	G	12: 38,781,799 (GRCm38)	S32G	possibly damaging	Het
Fam114a1	A	T	5: 65,008,980 (GRCm38)		probably benign	Het
Fbxo30	T	A	10: 11,290,378 (GRCm38)	N281K	probably benign	Het
Galnt12	G	T	4: 47,117,941 (GRCm38)	R412L	probably damaging	Het
Gm5786	T	A	12: 59,081,596 (GRCm38)		noncoding transcript	Het
Gm9845	T	C	3: 39,358,467 (GRCm38)		noncoding transcript	Het
Hpse2	A	T	19: 43,294,253 (GRCm38)	V187D	probably damaging	Het
Itsn2	T	A	12: 4,629,557 (GRCm38)	M122K	possibly damaging	Het
Kcnj11	A	G	7: 46,099,789 (GRCm38)	S37P	probably benign	Het
Kif13b	T	C	14: 64,800,358 (GRCm38)	I1491T	probably damaging	Het
Krt36	T	A	11: 100,105,164 (GRCm38)	K145*	probably null	Het
Loxhd1	A	G	18: 77,369,137 (GRCm38)	I499V	probably benign	Het
Map3k4	G	T	17: 12,271,610 (GRCm38)	N311K	probably damaging	Het
Mical2	C	A	7: 112,335,413 (GRCm38)	H880N	probably benign	Het
Myo1d	A	T	11: 80,637,997 (GRCm38)	C666*	probably null	Het
Nlrx1	C	T	9: 44,264,005 (GRCm38)	R158H	probably benign	Het
Or10ag53	T	A	2: 87,251,951 (GRCm38)	Y5N	probably benign	Het
Or10q1	C	A	19: 13,749,630 (GRCm38)	H175N	possibly damaging	Het
Or13a17	A	G	7: 140,691,111 (GRCm38)	T69A	probably benign	Het
Or1e21	A	T	11: 73,453,280 (GRCm38)	L311I	probably benign	Het
Or4a78	T	C	2: 89,666,972 (GRCm38)	S305G	probably benign	Het
Pdgfrl	A	G	8: 40,977,057 (GRCm38)	R154G	probably benign	Het
Pitpnb	T	C	5: 111,330,833 (GRCm38)	F7S	possibly damaging	Het
Ppm1n	G	A	7: 19,279,172 (GRCm38)	R285C	probably damaging	Het
Prdm11	A	T	2: 92,975,612 (GRCm38)	I331N	possibly damaging	Het
Ptprb	C	T	10: 116,367,521 (GRCm38)	P2066L	probably damaging	Het
Ric8b	T	C	10: 84,992,271 (GRCm38)		probably benign	Het
Setx	A	G	2: 29,173,653 (GRCm38)	I2320M	probably damaging	Het
Skil	C	A	3: 31,111,638 (GRCm38)	S368*	probably null	Het
Slc1a5	G	T	7: 16,785,719 (GRCm38)		probably null	Het
Trpm7	A	C	2: 126,819,891 (GRCm38)	V1079G	possibly damaging	Het
Tulp1	A	G	17: 28,358,659 (GRCm38)	F2L	probably damaging	Het
Ulbp3	A	T	10: 3,125,050 (GRCm38)		noncoding transcript	Het
Zbtb17	A	G	4: 141,461,913 (GRCm38)	Y48C	probably damaging	Het
Zfp605	T	A	5: 110,127,640 (GRCm38)	I208N	possibly damaging	Het

Other mutations in Hecw2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Hecw2	APN	1	53,830,737 (GRCm38)	missense	probably damaging	1.00
IGL00338:Hecw2	APN	1	53,827,881 (GRCm38)	splice site	probably benign
IGL00530:Hecw2	APN	1	53,853,280 (GRCm38)	missense	probably damaging	1.00
IGL01343:Hecw2	APN	1	53,826,976 (GRCm38)	missense	probably damaging	0.96
IGL01503:Hecw2	APN	1	53,826,961 (GRCm38)	missense	probably damaging	1.00
IGL01989:Hecw2	APN	1	53,840,792 (GRCm38)	missense	probably damaging	1.00
IGL02016:Hecw2	APN	1	53,831,543 (GRCm38)	missense	possibly damaging	0.73
IGL02052:Hecw2	APN	1	53,926,511 (GRCm38)	missense	probably benign
IGL02085:Hecw2	APN	1	53,942,802 (GRCm38)	critical splice acceptor site	probably null
IGL02302:Hecw2	APN	1	53,933,248 (GRCm38)	missense	probably damaging	1.00
IGL02310:Hecw2	APN	1	53,923,916 (GRCm38)	missense	probably null	0.38
IGL02499:Hecw2	APN	1	53,926,488 (GRCm38)	missense	probably benign
IGL02695:Hecw2	APN	1	53,926,209 (GRCm38)	missense	possibly damaging	0.94
IGL02732:Hecw2	APN	1	53,926,688 (GRCm38)	splice site	probably benign
IGL03100:Hecw2	APN	1	53,831,656 (GRCm38)	missense	probably damaging	1.00
IGL03175:Hecw2	APN	1	53,926,257 (GRCm38)	missense	possibly damaging	0.51
IGL03253:Hecw2	APN	1	53,832,716 (GRCm38)	missense	possibly damaging	0.85
IGL03356:Hecw2	APN	1	53,927,058 (GRCm38)	splice site	probably benign
Memoriam	UTSW	1	53,926,056 (GRCm38)	missense	probably benign
recollect	UTSW	1	53,904,422 (GRCm38)	missense	possibly damaging	0.88
ANU74:Hecw2	UTSW	1	53,925,694 (GRCm38)	missense	probably benign	0.01
R0077:Hecw2	UTSW	1	53,868,831 (GRCm38)	splice site	probably benign
R0133:Hecw2	UTSW	1	53,830,740 (GRCm38)	missense	probably damaging	1.00
R0268:Hecw2	UTSW	1	53,926,698 (GRCm38)	splice site	probably benign
R1303:Hecw2	UTSW	1	54,040,393 (GRCm38)	missense	probably benign	0.00
R1460:Hecw2	UTSW	1	53,813,245 (GRCm38)	missense	probably damaging	0.96
R1524:Hecw2	UTSW	1	53,851,618 (GRCm38)	missense	probably damaging	1.00
R1533:Hecw2	UTSW	1	53,926,545 (GRCm38)	splice site	probably null
R1828:Hecw2	UTSW	1	53,926,023 (GRCm38)	missense	probably benign
R2170:Hecw2	UTSW	1	53,942,797 (GRCm38)	missense	probably damaging	0.99
R2338:Hecw2	UTSW	1	53,904,422 (GRCm38)	missense	possibly damaging	0.88
R3016:Hecw2	UTSW	1	53,830,680 (GRCm38)	missense	probably damaging	1.00
R3872:Hecw2	UTSW	1	53,832,757 (GRCm38)	splice site	probably benign
R3892:Hecw2	UTSW	1	53,926,121 (GRCm38)	missense	probably benign	0.01
R4086:Hecw2	UTSW	1	53,831,656 (GRCm38)	missense	probably damaging	1.00
R4247:Hecw2	UTSW	1	53,832,645 (GRCm38)	missense	probably damaging	1.00
R4248:Hecw2	UTSW	1	53,832,645 (GRCm38)	missense	probably damaging	1.00
R4249:Hecw2	UTSW	1	53,832,645 (GRCm38)	missense	probably damaging	1.00
R4545:Hecw2	UTSW	1	53,813,222 (GRCm38)	makesense	probably null
R4805:Hecw2	UTSW	1	53,840,859 (GRCm38)	missense	probably damaging	1.00
R4834:Hecw2	UTSW	1	53,830,752 (GRCm38)	missense	probably damaging	1.00
R4884:Hecw2	UTSW	1	53,950,841 (GRCm38)	missense	probably benign	0.03
R4983:Hecw2	UTSW	1	53,832,671 (GRCm38)	missense	probably benign	0.42
R5168:Hecw2	UTSW	1	53,913,300 (GRCm38)	missense	probably damaging	1.00
R5482:Hecw2	UTSW	1	53,926,201 (GRCm38)	missense	probably benign	0.09
R5549:Hecw2	UTSW	1	53,925,691 (GRCm38)	missense	possibly damaging	0.91
R5623:Hecw2	UTSW	1	53,832,623 (GRCm38)	missense	probably null	1.00
R5740:Hecw2	UTSW	1	53,887,603 (GRCm38)	missense	probably benign	0.12
R5919:Hecw2	UTSW	1	53,937,090 (GRCm38)	missense	probably damaging	0.99
R6058:Hecw2	UTSW	1	53,923,976 (GRCm38)	missense	possibly damaging	0.67
R6460:Hecw2	UTSW	1	53,868,833 (GRCm38)	splice site	probably null
R6875:Hecw2	UTSW	1	53,937,132 (GRCm38)	missense	probably benign	0.01
R7097:Hecw2	UTSW	1	53,865,124 (GRCm38)	missense	possibly damaging	0.88
R7131:Hecw2	UTSW	1	53,865,121 (GRCm38)	missense	probably damaging	1.00
R7291:Hecw2	UTSW	1	53,914,594 (GRCm38)	missense	probably damaging	1.00
R7401:Hecw2	UTSW	1	53,904,343 (GRCm38)	missense	probably damaging	1.00
R7482:Hecw2	UTSW	1	54,040,470 (GRCm38)	missense	probably damaging	0.99
R7501:Hecw2	UTSW	1	53,913,872 (GRCm38)	critical splice acceptor site	probably null
R7520:Hecw2	UTSW	1	53,926,056 (GRCm38)	missense	probably benign
R7611:Hecw2	UTSW	1	53,913,300 (GRCm38)	missense	probably damaging	1.00
R8184:Hecw2	UTSW	1	54,040,387 (GRCm38)	missense	probably benign	0.37
R8286:Hecw2	UTSW	1	53,840,769 (GRCm38)	missense	probably damaging	1.00
R8300:Hecw2	UTSW	1	53,887,616 (GRCm38)	missense	probably null	0.07
R8354:Hecw2	UTSW	1	53,925,308 (GRCm38)	critical splice donor site	probably null
R8362:Hecw2	UTSW	1	54,040,491 (GRCm38)	start codon destroyed	probably null	0.51
R8691:Hecw2	UTSW	1	53,865,064 (GRCm38)	missense	probably benign	0.26
R8745:Hecw2	UTSW	1	53,933,171 (GRCm38)	missense	probably damaging	1.00
R8769:Hecw2	UTSW	1	53,913,348 (GRCm38)	missense	probably benign	0.00
R8830:Hecw2	UTSW	1	53,891,146 (GRCm38)	missense	probably damaging	1.00
R8842:Hecw2	UTSW	1	53,950,874 (GRCm38)	missense
R8874:Hecw2	UTSW	1	53,904,449 (GRCm38)	splice site	probably benign
R9064:Hecw2	UTSW	1	53,826,886 (GRCm38)	missense	probably benign	0.08
R9326:Hecw2	UTSW	1	54,040,210 (GRCm38)	missense	probably damaging	1.00
R9450:Hecw2	UTSW	1	53,839,029 (GRCm38)	nonsense	probably null
R9486:Hecw2	UTSW	1	53,813,307 (GRCm38)	missense	probably damaging	1.00
R9763:Hecw2	UTSW	1	53,923,915 (GRCm38)	missense	probably damaging	1.00
R9766:Hecw2	UTSW	1	53,865,128 (GRCm38)	missense	probably damaging	1.00
Z1177:Hecw2	UTSW	1	53,923,943 (GRCm38)	missense	possibly damaging	0.95

Posted On

2015-04-16