Incidental Mutation 'IGL01551:Edar'
| ID |
93274 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Edar
|
| Ensembl Gene |
ENSMUSG00000003227 |
| Gene Name |
ectodysplasin-A receptor |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
IGL01551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
58436611-58511476 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 58441860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003312]
|
| AlphaFold |
Q9R187 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003312
|
| SMART Domains |
Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Blast:TNFR
|
31 |
71 |
2e-16 |
BLAST |
|
SCOP:d1jmab1
|
31 |
91 |
2e-3 |
SMART |
|
Blast:TNFR
|
74 |
113 |
5e-20 |
BLAST |
|
low complexity region
|
149 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
229 |
N/A |
INTRINSIC |
|
SCOP:d1ngr__
|
348 |
430 |
2e-4 |
SMART |
|
low complexity region
|
439 |
448 |
N/A |
INTRINSIC |
|
| 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 the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce abnormalities of the hair,teeth and some exocrine glands. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,147 (GRCm39) |
S103L |
possibly damaging |
Het |
| Acvr2a |
G |
A |
2: 48,787,071 (GRCm39) |
A389T |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,784,001 (GRCm39) |
S1037P |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,511,446 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,404,183 (GRCm39) |
N569S |
probably damaging |
Het |
| Bin1 |
G |
T |
18: 32,510,511 (GRCm39) |
V18L |
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,814,620 (GRCm39) |
Y69H |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,611 (GRCm39) |
R134G |
possibly damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Gcc2 |
T |
C |
10: 58,134,691 (GRCm39) |
|
probably benign |
Het |
| Gm10961 |
A |
G |
3: 107,540,281 (GRCm39) |
|
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Ifi202b |
T |
A |
1: 173,798,928 (GRCm39) |
K373N |
probably benign |
Het |
| Khk |
C |
A |
5: 31,082,189 (GRCm39) |
H67N |
probably benign |
Het |
| Kif7 |
T |
A |
7: 79,360,314 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,402,614 (GRCm39) |
|
probably benign |
Het |
| Mtor |
A |
G |
4: 148,556,494 (GRCm39) |
H968R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,673,157 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,618 (GRCm39) |
T250A |
probably benign |
Het |
| Or2f1b |
A |
G |
6: 42,739,046 (GRCm39) |
D20G |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,629 (GRCm39) |
H136L |
probably benign |
Het |
| Otol1 |
T |
C |
3: 69,935,057 (GRCm39) |
F350L |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,383,042 (GRCm39) |
N59S |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,352,342 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
A |
T |
1: 190,505,837 (GRCm39) |
S1042T |
possibly damaging |
Het |
| Rtn1 |
C |
T |
12: 72,263,709 (GRCm39) |
V741I |
possibly damaging |
Het |
| Tor2a |
T |
A |
2: 32,650,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,688 (GRCm39) |
I63V |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,343,849 (GRCm39) |
D2030G |
probably benign |
Het |
| Zfp326 |
T |
C |
5: 106,036,451 (GRCm39) |
S121P |
probably damaging |
Het |
|
| Other mutations in Edar |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Edar
|
APN |
10 |
58,464,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Edar
|
APN |
10 |
58,446,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02391:Edar
|
APN |
10 |
58,464,403 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03152:Edar
|
APN |
10 |
58,445,817 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
achtung2
|
UTSW |
10 |
58,438,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
two-tone
|
UTSW |
10 |
58,439,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU23:Edar
|
UTSW |
10 |
58,464,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Edar
|
UTSW |
10 |
58,465,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Edar
|
UTSW |
10 |
58,465,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0927:Edar
|
UTSW |
10 |
58,465,313 (GRCm39) |
splice site |
probably null |
|
|
R1217:Edar
|
UTSW |
10 |
58,464,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Edar
|
UTSW |
10 |
58,443,188 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1651:Edar
|
UTSW |
10 |
58,441,875 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3820:Edar
|
UTSW |
10 |
58,457,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3932:Edar
|
UTSW |
10 |
58,446,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Edar
|
UTSW |
10 |
58,445,769 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4911:Edar
|
UTSW |
10 |
58,457,146 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4924:Edar
|
UTSW |
10 |
58,465,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Edar
|
UTSW |
10 |
58,441,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5311:Edar
|
UTSW |
10 |
58,443,257 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5314:Edar
|
UTSW |
10 |
58,443,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5371:Edar
|
UTSW |
10 |
58,443,274 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5566:Edar
|
UTSW |
10 |
58,464,463 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5847:Edar
|
UTSW |
10 |
58,439,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Edar
|
UTSW |
10 |
58,446,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7529:Edar
|
UTSW |
10 |
58,447,830 (GRCm39) |
missense |
probably benign |
|
|
R7812:Edar
|
UTSW |
10 |
58,465,926 (GRCm39) |
missense |
probably benign |
|
|
R7872:Edar
|
UTSW |
10 |
58,446,348 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2013-12-09 |
Incidental Mutation