Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02085:Hecw2'

283532

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: 0.188) question?

Stock #

IGL02085

Quality Score

Status

Chromosome

Chromosomal Location

53806876-54195168 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 53942802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087659] [ENSMUST00000097741] [ENSMUST00000120904]

AlphaFold

Q6I6G8

Predicted Effect

probably null
Transcript: ENSMUST00000087659

SMART Domains

Protein: ENSMUSP00000084942
Gene: ENSMUSG00000042807

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 null
Transcript: ENSMUST00000097741

SMART Domains

Protein: ENSMUSP00000095348
Gene: ENSMUSG00000042807

Domain	Start	End	E-Value	Type
PDB:2LFE\|A	42	162	1e-87	PDB
low complexity region	165	178	N/A	INTRINSIC
C2	186	292	5.92e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000120904

SMART Domains

Protein: ENSMUSP00000113283
Gene: ENSMUSG00000042807

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: ENSMUST00000146850

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,281,557		probably null	Het
Akr1c14	T	A	13: 4,078,035	C145*	probably null	Het
Arhgef26	A	G	3: 62,459,724		probably benign	Het
Asb9	A	G	X: 164,535,456	M215V	probably benign	Het
Atoh8	C	A	6: 72,235,173		probably benign	Het
Atp6v1b1	T	A	6: 83,753,915		probably benign	Het
Cep97	T	C	16: 55,915,505	E310G	probably damaging	Het
Ctrc	C	T	4: 141,843,714	D72N	possibly damaging	Het
Dnah2	A	G	11: 69,458,185	I2492T	probably benign	Het
Emilin2	A	G	17: 71,275,149	V194A	probably damaging	Het
Epb41l5	T	C	1: 119,572,856	T524A	probably benign	Het
Fam91a1	A	G	15: 58,441,656	N497S	possibly damaging	Het
Gabpb1	A	T	2: 126,639,271	C319*	probably null	Het
Galnt10	A	G	11: 57,782,278	T487A	probably benign	Het
Hmg20a	C	T	9: 56,477,302	Q119*	probably null	Het
Ifi44l	A	G	3: 151,762,840	S18P	unknown	Het
Immt	T	A	6: 71,851,836	V125E	probably benign	Het
Ints13	T	C	6: 146,549,939		probably benign	Het
Lrp1b	C	T	2: 40,889,309	G2574S	probably benign	Het
Myoc	T	C	1: 162,639,774	C171R	probably benign	Het
Ncbp1	C	T	4: 46,159,699	T404M	probably damaging	Het
Npy6r	A	G	18: 44,275,931	N140D	probably damaging	Het
Nrxn2	A	T	19: 6,492,868	M1041L	possibly damaging	Het
Nsmaf	G	A	4: 6,398,551	P851L	probably benign	Het
Nutm2	T	A	13: 50,473,793		probably null	Het
Olfr117	A	G	17: 37,659,688	V215A	probably benign	Het
Olfr1314	A	C	2: 112,092,524	M59R	probably damaging	Het
Olfr1329	A	G	4: 118,916,750	F239S	probably damaging	Het
Padi2	T	G	4: 140,927,157	Y206*	probably null	Het
Pcdh19	A	T	X: 133,681,258	Y766*	probably null	Het
Pde12	A	G	14: 26,666,464		probably benign	Het
Ppl	C	T	16: 5,089,816	G872R	probably benign	Het
Prkag3	C	T	1: 74,748,812		probably benign	Het
Ptgfr	T	C	3: 151,835,800	T24A	probably benign	Het
Rpe65	T	C	3: 159,615,646	V365A	probably benign	Het
Shank3	T	C	15: 89,503,915		probably null	Het
Slco1a6	T	C	6: 142,086,474	T642A	probably benign	Het
Slco6d1	C	A	1: 98,443,743	P275T	probably damaging	Het
Smarca1	G	T	X: 47,875,232	Q343K	probably damaging	Het
Smoc2	A	G	17: 14,347,233	T180A	possibly damaging	Het
Tfrc	G	A	16: 32,621,186	V406I	probably benign	Het
Tigit	C	T	16: 43,649,110	G206D	probably benign	Het
Triobp	G	A	15: 78,974,297		probably benign	Het
Trmo	T	C	4: 46,380,217	Y384C	probably damaging	Het
Vmn1r89	T	A	7: 13,219,538	I67N	probably damaging	Het
Wdr17	C	A	8: 54,687,736	E194*	probably null	Het

Other mutations in Hecw2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Hecw2	APN	1	53830737	missense	probably damaging	1.00
IGL00338:Hecw2	APN	1	53827881	splice site	probably benign
IGL00530:Hecw2	APN	1	53853280	missense	probably damaging	1.00
IGL01343:Hecw2	APN	1	53826976	missense	probably damaging	0.96
IGL01503:Hecw2	APN	1	53826961	missense	probably damaging	1.00
IGL01989:Hecw2	APN	1	53840792	missense	probably damaging	1.00
IGL02016:Hecw2	APN	1	53831543	missense	possibly damaging	0.73
IGL02052:Hecw2	APN	1	53926511	missense	probably benign
IGL02302:Hecw2	APN	1	53933248	missense	probably damaging	1.00
IGL02310:Hecw2	APN	1	53923916	missense	probably null	0.38
IGL02388:Hecw2	APN	1	53925699	missense	probably benign	0.17
IGL02499:Hecw2	APN	1	53926488	missense	probably benign
IGL02695:Hecw2	APN	1	53926209	missense	possibly damaging	0.94
IGL02732:Hecw2	APN	1	53926688	splice site	probably benign
IGL03100:Hecw2	APN	1	53831656	missense	probably damaging	1.00
IGL03175:Hecw2	APN	1	53926257	missense	possibly damaging	0.51
IGL03253:Hecw2	APN	1	53832716	missense	possibly damaging	0.85
IGL03356:Hecw2	APN	1	53927058	splice site	probably benign
Memoriam	UTSW	1	53926056	missense	probably benign
recollect	UTSW	1	53904422	missense	possibly damaging	0.88
ANU74:Hecw2	UTSW	1	53925694	missense	probably benign	0.01
R0077:Hecw2	UTSW	1	53868831	splice site	probably benign
R0133:Hecw2	UTSW	1	53830740	missense	probably damaging	1.00
R0268:Hecw2	UTSW	1	53926698	splice site	probably benign
R1303:Hecw2	UTSW	1	54040393	missense	probably benign	0.00
R1460:Hecw2	UTSW	1	53813245	missense	probably damaging	0.96
R1524:Hecw2	UTSW	1	53851618	missense	probably damaging	1.00
R1533:Hecw2	UTSW	1	53926545	splice site	probably null
R1828:Hecw2	UTSW	1	53926023	missense	probably benign
R2170:Hecw2	UTSW	1	53942797	missense	probably damaging	0.99
R2338:Hecw2	UTSW	1	53904422	missense	possibly damaging	0.88
R3016:Hecw2	UTSW	1	53830680	missense	probably damaging	1.00
R3872:Hecw2	UTSW	1	53832757	splice site	probably benign
R3892:Hecw2	UTSW	1	53926121	missense	probably benign	0.01
R4086:Hecw2	UTSW	1	53831656	missense	probably damaging	1.00
R4247:Hecw2	UTSW	1	53832645	missense	probably damaging	1.00
R4248:Hecw2	UTSW	1	53832645	missense	probably damaging	1.00
R4249:Hecw2	UTSW	1	53832645	missense	probably damaging	1.00
R4545:Hecw2	UTSW	1	53813222	makesense	probably null
R4805:Hecw2	UTSW	1	53840859	missense	probably damaging	1.00
R4834:Hecw2	UTSW	1	53830752	missense	probably damaging	1.00
R4884:Hecw2	UTSW	1	53950841	missense	probably benign	0.03
R4983:Hecw2	UTSW	1	53832671	missense	probably benign	0.42
R5168:Hecw2	UTSW	1	53913300	missense	probably damaging	1.00
R5482:Hecw2	UTSW	1	53926201	missense	probably benign	0.09
R5549:Hecw2	UTSW	1	53925691	missense	possibly damaging	0.91
R5623:Hecw2	UTSW	1	53832623	missense	probably null	1.00
R5740:Hecw2	UTSW	1	53887603	missense	probably benign	0.12
R5919:Hecw2	UTSW	1	53937090	missense	probably damaging	0.99
R6058:Hecw2	UTSW	1	53923976	missense	possibly damaging	0.67
R6460:Hecw2	UTSW	1	53868833	splice site	probably null
R6875:Hecw2	UTSW	1	53937132	missense	probably benign	0.01
R7097:Hecw2	UTSW	1	53865124	missense	possibly damaging	0.88
R7131:Hecw2	UTSW	1	53865121	missense	probably damaging	1.00
R7291:Hecw2	UTSW	1	53914594	missense	probably damaging	1.00
R7401:Hecw2	UTSW	1	53904343	missense	probably damaging	1.00
R7482:Hecw2	UTSW	1	54040470	missense	probably damaging	0.99
R7501:Hecw2	UTSW	1	53913872	critical splice acceptor site	probably null
R7520:Hecw2	UTSW	1	53926056	missense	probably benign
R7611:Hecw2	UTSW	1	53913300	missense	probably damaging	1.00
R8184:Hecw2	UTSW	1	54040387	missense	probably benign	0.37
R8286:Hecw2	UTSW	1	53840769	missense	probably damaging	1.00
R8300:Hecw2	UTSW	1	53887616	missense	probably null	0.07
R8354:Hecw2	UTSW	1	53925308	critical splice donor site	probably null
R8362:Hecw2	UTSW	1	54040491	start codon destroyed	probably null	0.51
R8691:Hecw2	UTSW	1	53865064	missense	probably benign	0.26
R8745:Hecw2	UTSW	1	53933171	missense	probably damaging	1.00
R8769:Hecw2	UTSW	1	53913348	missense	probably benign	0.00
R8830:Hecw2	UTSW	1	53891146	missense	probably damaging	1.00
R8842:Hecw2	UTSW	1	53950874	missense
R8874:Hecw2	UTSW	1	53904449	splice site	probably benign
R9064:Hecw2	UTSW	1	53826886	missense	probably benign	0.08
R9326:Hecw2	UTSW	1	54040210	missense	probably damaging	1.00
R9450:Hecw2	UTSW	1	53839029	nonsense	probably null
R9486:Hecw2	UTSW	1	53813307	missense	probably damaging	1.00
R9763:Hecw2	UTSW	1	53923915	missense	probably damaging	1.00
R9766:Hecw2	UTSW	1	53865128	missense	probably damaging	1.00
Z1177:Hecw2	UTSW	1	53923943	missense	possibly damaging	0.95

Posted On

2015-04-16