Incidental Mutation 'R4891:Edn3'
| ID |
377300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edn3
|
| Ensembl Gene |
ENSMUSG00000027524 |
| Gene Name |
endothelin 3 |
| Synonyms |
tmgc48, 114-CH19, 114CH19 |
| MMRRC Submission |
042496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R4891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
174602412-174625835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 174603525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 91
(H91R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029030]
[ENSMUST00000140908]
|
| AlphaFold |
P48299 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029030
AA Change: H91R
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029030
Gene: ENSMUSG00000027524
AA Change: H91R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
END
|
96 |
117 |
6.7e-6 |
SMART |
|
END
|
158 |
179 |
1.53e-9 |
SMART |
|
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137369
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140908
AA Change: H47R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000125602
Gene: ENSMUSG00000027524
AA Change: H47R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
END
|
52 |
73 |
6.7e-6 |
SMART |
|
END
|
114 |
135 |
1.53e-9 |
SMART |
|
low complexity region
|
137 |
148 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0981 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: This gene is a member of the endothelin family whose members encode proteins that act on G protein-coupled receptors. Endothelins are produced as large prepropolypeptide precursors that undergo a first cleavage by a subtilisin serine protease to form an inactive intermediate, which in turn is cleaved again by endothelin-converting enzyme 1 (ECE-1) to yield the active 21 amino acid peptide. This gene encodes a protein which is expressed in neural crest cells (NCC), binds to endothelin receptor b (Ednrb) and plays an essential role in the development of NCC-derived cell lineages including melanocytes and enteric neurons. Mutations in this gene are associated with terminal aganglionosis and white spotted coat in mice and Hirschsprung's disease and Waardenburg syndrome in humans. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for mutations at this locus exhibit aganglionic megacolon with white spotting of the hair coat due to impaired expansion and differentiation of epidermal melanoblasts. Mutants die around weaning with impacted colons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,072 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Cercam |
C |
A |
2: 29,759,283 (GRCm39) |
|
probably benign |
Het |
| Chst1 |
A |
G |
2: 92,444,337 (GRCm39) |
T270A |
possibly damaging |
Het |
| Cluh |
C |
T |
11: 74,555,885 (GRCm39) |
T816I |
possibly damaging |
Het |
| Fam135a |
A |
G |
1: 24,069,409 (GRCm39) |
S487P |
probably benign |
Het |
| Galns |
T |
A |
8: 123,325,895 (GRCm39) |
D212V |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,475,570 (GRCm39) |
V582A |
possibly damaging |
Het |
| Hs3st4 |
T |
A |
7: 123,996,052 (GRCm39) |
N239K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,276,186 (GRCm39) |
W1062* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,377,621 (GRCm39) |
N4110S |
probably damaging |
Het |
| Mag |
T |
C |
7: 30,599,793 (GRCm39) |
H582R |
possibly damaging |
Het |
| Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
| Ndufa5 |
A |
G |
6: 24,519,246 (GRCm39) |
V26A |
possibly damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Or13j1 |
C |
T |
4: 43,706,194 (GRCm39) |
A125T |
probably damaging |
Het |
| Or51g2 |
T |
A |
7: 102,622,759 (GRCm39) |
I147L |
probably benign |
Het |
| Or5ac24 |
T |
A |
16: 59,165,834 (GRCm39) |
T77S |
possibly damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,716,957 (GRCm39) |
H347R |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 117,196,985 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,991,563 (GRCm39) |
A683V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,249,496 (GRCm39) |
V240A |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,685 (GRCm39) |
V325E |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
C |
T |
19: 4,788,497 (GRCm39) |
R1159C |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,415 (GRCm39) |
D14G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,601 (GRCm39) |
K173R |
probably damaging |
Het |
| Themis2 |
G |
T |
4: 132,510,668 (GRCm39) |
Q625K |
probably benign |
Het |
| Vcpip1 |
G |
T |
1: 9,818,287 (GRCm39) |
P32Q |
unknown |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,081 (GRCm39) |
T109S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,640,661 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,345 (GRCm39) |
|
probably benign |
Het |
| Wiz |
A |
G |
17: 32,576,602 (GRCm39) |
S642P |
possibly damaging |
Het |
| Zdhhc1 |
C |
T |
8: 106,199,649 (GRCm39) |
R383Q |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,055 (GRCm39) |
S1194P |
probably damaging |
Het |
|
| Other mutations in Edn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0410:Edn3
|
UTSW |
2 |
174,603,482 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0540:Edn3
|
UTSW |
2 |
174,602,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Edn3
|
UTSW |
2 |
174,603,398 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2017:Edn3
|
UTSW |
2 |
174,620,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4571:Edn3
|
UTSW |
2 |
174,623,697 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5218:Edn3
|
UTSW |
2 |
174,603,345 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6008:Edn3
|
UTSW |
2 |
174,621,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7447:Edn3
|
UTSW |
2 |
174,603,544 (GRCm39) |
nonsense |
probably null |
|
|
R7500:Edn3
|
UTSW |
2 |
174,621,328 (GRCm39) |
splice site |
probably null |
|
|
R9205:Edn3
|
UTSW |
2 |
174,603,482 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTAGGAGCCCTTCAATCC -3'
(R):5'- TGCTGCACTGTGGTAGATTC -3'
Sequencing Primer
(F):5'- CCTGCAGGACTTGTGCCTTG -3'
(R):5'- CACTGTGGTAGATTCAGGGATC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation