Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Hecw2'

552616

Institutional Source

Beutler Lab

Gene Symbol

Hecw2

Ensembl Gene

ENSMUSG00000042807

Gene Name

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

Synonyms

A730039N16Rik, Nedl2, D030049F17Rik

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53846031-54234193 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53904280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1156 (V1156E)

Ref Sequence

ENSEMBL: ENSMUSP00000084942 (fasta)

Gene Model

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

AlphaFold

Q6I6G8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087659
AA Change: V1156E

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

SMART Domains

Protein: ENSMUSP00000084942
Gene: ENSMUSG00000042807
AA Change: V1156E

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: V1156E

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

SMART Domains

Protein: ENSMUSP00000113283
Gene: ENSMUSG00000042807
AA Change: V1156E

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,637 (GRCm39)	V365A	probably damaging	Het
Abca13	A	G	11: 9,241,893 (GRCm39)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,255,857 (GRCm39)	F543I	probably damaging	Het
Adam15	T	A	3: 89,254,287 (GRCm39)	Q170L	possibly damaging	Het
Aldoc	A	G	11: 78,215,282 (GRCm39)	I19V	possibly damaging	Het
Aoc1l1	T	A	6: 48,953,306 (GRCm39)	Y410*	probably null	Het
Atrip	T	C	9: 108,889,488 (GRCm39)	I711M	probably benign	Het
Brwd1	A	C	16: 95,867,698 (GRCm39)	L149R	probably damaging	Het
Capn9	A	T	8: 125,303,017 (GRCm39)	D45V	probably damaging	Het
Card9	G	A	2: 26,248,847 (GRCm39)	R101C	probably damaging	Het
Ccdc87	A	G	19: 4,891,785 (GRCm39)	E759G	probably damaging	Het
Ccn1	T	C	3: 145,354,536 (GRCm39)	D125G	probably damaging	Het
Cep250	T	C	2: 155,806,997 (GRCm39)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,656,966 (GRCm39)	K3029E	probably benign	Het
Chrna9	G	A	5: 66,134,484 (GRCm39)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,758,639 (GRCm39)	S367L	probably benign	Het
Col5a1	A	G	2: 27,819,498 (GRCm39)	D200G	unknown	Het
Crhr2	T	C	6: 55,069,112 (GRCm39)	N388D		Het
Cyp2b23	A	G	7: 26,380,838 (GRCm39)	L129P	probably benign	Het
Dctd	A	G	8: 48,565,075 (GRCm39)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,908,881 (GRCm39)	V738L	probably benign	Het
Dnah17	C	T	11: 117,970,484 (GRCm39)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,720,932 (GRCm39)	A2819S	probably benign	Het
Dnai7	A	T	6: 145,123,132 (GRCm39)	L578Q	probably null	Het
Dot1l	A	G	10: 80,628,175 (GRCm39)	H1071R	unknown	Het
Dync2h1	T	A	9: 7,075,786 (GRCm39)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,307,272 (GRCm39)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,931,913 (GRCm39)	R29W	probably null	Het
Evc2	A	G	5: 37,567,602 (GRCm39)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,555,679 (GRCm39)		probably benign	Het
Fibp	T	A	19: 5,511,519 (GRCm39)	I129N	probably damaging	Het
Folh1	G	T	7: 86,375,320 (GRCm39)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 97,083,027 (GRCm39)	T108S	probably damaging	Het
H1f7	T	A	15: 98,154,250 (GRCm39)	K300*	probably null	Het
Herc3	C	G	6: 58,864,409 (GRCm39)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,916,764 (GRCm39)	C20*	probably null	Het
Iho1	A	T	9: 108,294,619 (GRCm39)	D98E	probably benign	Het
Iqca1l	A	G	5: 24,753,954 (GRCm39)	V435A	possibly damaging	Het
Ivd	C	A	2: 118,700,255 (GRCm39)	T94K	probably damaging	Het
Kank2	C	T	9: 21,705,975 (GRCm39)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,417,562 (GRCm39)	Y889C	probably damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,747,497 (GRCm39)		probably benign	Het
Kmt5b	T	A	19: 3,865,412 (GRCm39)	D825E	probably benign	Het
Krt39	C	T	11: 99,411,697 (GRCm39)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,676,283 (GRCm39)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,804,204 (GRCm39)	V365E	probably benign	Het
Lonp1	C	T	17: 56,924,814 (GRCm39)	R531Q	probably damaging	Het
Mecom	T	A	3: 30,035,094 (GRCm39)	H194L	probably damaging	Het
Mlx	C	T	11: 100,980,068 (GRCm39)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,685,940 (GRCm39)	S77P	probably damaging	Het
Mst1	A	G	9: 107,962,130 (GRCm39)	E716G	probably null	Het
Mttp	C	T	3: 137,821,893 (GRCm39)	V210I	probably benign	Het
Mug2	T	C	6: 122,052,206 (GRCm39)	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336 (GRCm39)	M1T	probably null	Het
Neurog1	A	T	13: 56,399,563 (GRCm39)	N61K	probably benign	Het
Nlrp14	A	G	7: 106,784,021 (GRCm39)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,149,258 (GRCm39)	N288K	probably benign	Het
Notch3	T	A	17: 32,363,191 (GRCm39)	H1264L	probably benign	Het
Or1e25	A	T	11: 73,493,562 (GRCm39)	D52V	possibly damaging	Het
Or1e34	A	T	11: 73,778,780 (GRCm39)	C139*	probably null	Het
Or3a1c	A	G	11: 74,046,606 (GRCm39)	M209V	probably benign	Het
Patl2	A	T	2: 121,952,263 (GRCm39)		probably null	Het
Pfkfb4	A	G	9: 108,836,370 (GRCm39)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,135,035 (GRCm39)	E471G	probably null	Het
Postn	T	C	3: 54,270,056 (GRCm39)	V45A	probably damaging	Het
Ppan	T	A	9: 20,802,450 (GRCm39)	V257E	possibly damaging	Het
Ptcra	C	G	17: 47,074,522 (GRCm39)	A7P	probably damaging	Het
Ptprd	C	T	4: 75,984,577 (GRCm39)	R523H	probably damaging	Het
Pycr3	A	T	15: 75,790,544 (GRCm39)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,821,708 (GRCm39)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,746,028 (GRCm39)	K668*	probably null	Het
Ryr2	A	T	13: 11,655,213 (GRCm39)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,683,697 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,381,364 (GRCm39)	S974T	probably damaging	Het
Semp2l2a	A	T	8: 13,886,982 (GRCm39)	W370R	probably damaging	Het
Setbp1	A	G	18: 79,130,175 (GRCm39)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,395,590 (GRCm39)		probably benign	Het
Sh3pxd2b	A	G	11: 32,372,072 (GRCm39)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,454,614 (GRCm39)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,135,274 (GRCm39)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,339,189 (GRCm39)	I109S	probably damaging	Het
Spart	T	C	3: 55,029,220 (GRCm39)		probably null	Het
Sptbn2	A	T	19: 4,799,488 (GRCm39)	Q2097L	probably null	Het
Syne1	T	C	10: 5,178,221 (GRCm39)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,482,615 (GRCm39)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,348,247 (GRCm39)	I264K	probably damaging	Het
Tom1	T	A	8: 75,783,877 (GRCm39)	I287N	possibly damaging	Het
Top2a	G	A	11: 98,895,008 (GRCm39)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,728,410 (GRCm39)	V290E	probably damaging	Het
Try4	T	C	6: 41,281,337 (GRCm39)	I93T	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,130,745 (GRCm39)	R109S	probably benign	Het
Vav3	T	A	3: 109,571,662 (GRCm39)	F755I	probably damaging	Het
Vezt	A	T	10: 93,806,409 (GRCm39)	Y667*	probably null	Het
Vmn1r231	T	A	17: 21,110,140 (GRCm39)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,286,354 (GRCm39)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm39)	T449A	probably benign	Het
Zfp956	C	A	6: 47,932,781 (GRCm39)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,709,443 (GRCm39)	W152R	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTACAAGGAAGCGAGCTAC -3'
(R):5'- ACTATGTTTTATCTGTGCACGGATG -3'

Sequencing Primer
(F):5'- CGAGCTACTTAAAAAGGCAGC -3'
(R):5'- GCACGGATGTTTCTGAGTATGAAAC -3'

Posted On

2019-05-15