Incidental Mutation 'R2338:Hecw2'
| ID |
246605 |
| 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 |
040324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R2338 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
53846031-54234193 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53943581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 949
(M949V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087659]
[ENSMUST00000120904]
|
| AlphaFold |
Q6I6G8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087659
AA Change: M949V
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084942
Gene: ENSMUSG00000042807
AA Change: M949V
| 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 |
possibly damaging
Transcript: ENSMUST00000120904
AA Change: M949V
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113283
Gene: ENSMUSG00000042807
AA Change: M949V
| 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 |
|
| Meta Mutation Damage Score |
0.0644 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
98% (53/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,817,109 (GRCm39) |
D53G |
probably benign |
Het |
| A1cf |
C |
T |
19: 31,909,945 (GRCm39) |
P330S |
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,225,941 (GRCm39) |
|
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,658,440 (GRCm39) |
L1158S |
probably damaging |
Het |
| Cadps2 |
C |
G |
6: 23,838,977 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
C |
T |
8: 3,656,808 (GRCm39) |
R1048C |
probably damaging |
Het |
| Cdkl2 |
C |
T |
5: 92,181,538 (GRCm39) |
A148T |
possibly damaging |
Het |
| Dab2 |
T |
A |
15: 6,464,733 (GRCm39) |
I395K |
possibly damaging |
Het |
| Dclk2 |
A |
G |
3: 86,706,324 (GRCm39) |
F589S |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,465,470 (GRCm39) |
S1376P |
possibly damaging |
Het |
| Eprs1 |
T |
C |
1: 185,148,005 (GRCm39) |
F1256L |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,895,605 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,202,727 (GRCm39) |
T116A |
possibly damaging |
Het |
| Fem1al |
C |
A |
11: 29,773,718 (GRCm39) |
A580S |
probably benign |
Het |
| Fmnl3 |
T |
C |
15: 99,268,108 (GRCm39) |
T26A |
probably benign |
Het |
| Foxp1 |
A |
G |
6: 98,980,254 (GRCm39) |
V158A |
possibly damaging |
Het |
| G6pd2 |
T |
A |
5: 61,967,351 (GRCm39) |
D375E |
probably benign |
Het |
| Gne |
C |
T |
4: 44,042,196 (GRCm39) |
A460T |
probably damaging |
Het |
| Gprin1 |
T |
A |
13: 54,886,238 (GRCm39) |
|
probably null |
Het |
| Herc1 |
G |
A |
9: 66,336,251 (GRCm39) |
V1599M |
possibly damaging |
Het |
| Hk2 |
A |
C |
6: 82,708,096 (GRCm39) |
N628K |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,498,685 (GRCm39) |
T4065A |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,691,321 (GRCm39) |
Q683L |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,361,217 (GRCm39) |
I121T |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,359,340 (GRCm39) |
L322P |
probably benign |
Het |
| Lilrb4a |
A |
G |
10: 51,367,796 (GRCm39) |
M113V |
probably benign |
Het |
| Mnat1 |
G |
A |
12: 73,265,917 (GRCm39) |
|
probably null |
Het |
| Mucl1 |
T |
A |
15: 103,783,964 (GRCm39) |
T68S |
possibly damaging |
Het |
| Npnt |
G |
T |
3: 132,597,170 (GRCm39) |
D461E |
probably damaging |
Het |
| Nrp1 |
A |
T |
8: 129,224,385 (GRCm39) |
Q716L |
probably benign |
Het |
| Or11g25 |
A |
G |
14: 50,723,097 (GRCm39) |
T61A |
possibly damaging |
Het |
| Or12k5 |
T |
G |
2: 36,895,159 (GRCm39) |
S156R |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,617 (GRCm39) |
I280N |
possibly damaging |
Het |
| Podxl2 |
T |
C |
6: 88,826,178 (GRCm39) |
Q376R |
probably damaging |
Het |
| Pudp |
T |
C |
18: 50,701,646 (GRCm39) |
D29G |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
T |
C |
13: 51,573,614 (GRCm39) |
I265T |
possibly damaging |
Het |
| Scgb1b2 |
A |
T |
7: 30,991,038 (GRCm39) |
C23* |
probably null |
Het |
| Spag8 |
G |
T |
4: 43,652,826 (GRCm39) |
R212S |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,335,299 (GRCm39) |
|
probably null |
Het |
| Trmt1l |
C |
T |
1: 151,304,710 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,954,469 (GRCm39) |
L810Q |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,292,059 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
T |
G |
6: 123,681,384 (GRCm39) |
I97M |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,590,051 (GRCm39) |
F622I |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,697,817 (GRCm39) |
G766E |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,946,495 (GRCm39) |
T553A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,114 (GRCm39) |
D1118E |
probably damaging |
Het |
| Zfyve9 |
A |
C |
4: 108,517,811 (GRCm39) |
D461E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCTTGCCCTGATGATCATG -3'
(R):5'- CAATAGTGGAAAGGGCCTCG -3'
Sequencing Primer
(F):5'- GATGATCATGTTTCATCTCCCAG -3'
(R):5'- CCTACAGTTTCTGTATGTTCAAGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation