Incidental Mutation 'ANU23:Edar'
ID |
262647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Edar
|
Ensembl Gene |
ENSMUSG00000003227 |
Gene Name |
ectodysplasin-A receptor |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.183)
|
Stock # |
ANU23
|
Quality Score |
151 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
58436611-58511476 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58464460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 60
(C60S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003312]
|
AlphaFold |
Q9R187 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003312
AA Change: C60S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003312 Gene: ENSMUSG00000003227 AA Change: C60S
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 |
- 1x: 98.7%
- 3x: 98.2%
- 10x: 96.6%
- 20x: 93.8%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12b |
G |
A |
12: 70,215,822 (GRCm39) |
G88S |
probably damaging |
Het |
Acot10 |
A |
G |
15: 20,666,051 (GRCm39) |
F230S |
probably benign |
Het |
Akap12 |
G |
T |
10: 4,303,273 (GRCm39) |
A28S |
probably benign |
Het |
Anks1 |
C |
A |
17: 28,205,227 (GRCm39) |
T262K |
probably damaging |
Het |
Arfgap3 |
A |
G |
15: 83,197,710 (GRCm39) |
Y349H |
possibly damaging |
Het |
Cacna1g |
G |
A |
11: 94,357,054 (GRCm39) |
|
probably benign |
Het |
Camsap2 |
T |
A |
1: 136,225,528 (GRCm39) |
E199D |
probably benign |
Het |
Ccdc13 |
A |
T |
9: 121,656,429 (GRCm39) |
M128K |
probably benign |
Het |
Ccdc38 |
T |
C |
10: 93,405,797 (GRCm39) |
|
probably null |
Het |
Cep95 |
G |
A |
11: 106,704,641 (GRCm39) |
V499I |
probably benign |
Het |
Cpne6 |
G |
C |
14: 55,749,459 (GRCm39) |
M6I |
probably benign |
Het |
Cpne6 |
A |
T |
14: 55,752,706 (GRCm39) |
I299F |
probably damaging |
Het |
Cse1l |
T |
A |
2: 166,769,428 (GRCm39) |
Y278* |
probably null |
Het |
Dip2c |
A |
G |
13: 9,625,179 (GRCm39) |
N558D |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,201,698 (GRCm39) |
N459D |
probably benign |
Het |
Fbxw8 |
C |
T |
5: 118,251,785 (GRCm39) |
V243M |
possibly damaging |
Het |
Fem1b |
G |
A |
9: 62,704,810 (GRCm39) |
A150V |
possibly damaging |
Het |
Gm5422 |
A |
T |
10: 31,125,432 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch3 |
CAGGAGGAGGAGGAGGAG |
CAGGAGGAGGAGGAG |
4: 133,305,613 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,147,020 (GRCm39) |
T392A |
probably benign |
Het |
Idh3a |
T |
A |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
Itpk1 |
T |
C |
12: 102,572,362 (GRCm39) |
E117G |
probably damaging |
Het |
Kif12 |
G |
T |
4: 63,084,121 (GRCm39) |
P627Q |
probably damaging |
Het |
Krtap15-1 |
T |
A |
16: 88,626,255 (GRCm39) |
F88L |
probably benign |
Het |
Mcm7 |
C |
T |
5: 138,168,653 (GRCm39) |
V13I |
probably benign |
Het |
Mlh1 |
T |
C |
9: 111,081,980 (GRCm39) |
N248D |
possibly damaging |
Het |
Or2i1 |
T |
C |
17: 37,507,833 (GRCm39) |
N342S |
probably benign |
Het |
Or4k15 |
A |
G |
14: 50,364,039 (GRCm39) |
N2D |
probably benign |
Het |
Or52z12 |
T |
C |
7: 103,233,900 (GRCm39) |
Y224H |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,376,555 (GRCm39) |
H106R |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,827,229 (GRCm39) |
T486S |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,485,595 (GRCm39) |
V474A |
possibly damaging |
Het |
Scamp4 |
C |
A |
10: 80,445,256 (GRCm39) |
Q34K |
probably damaging |
Het |
Serpinb3b |
A |
G |
1: 107,082,395 (GRCm39) |
Y290H |
probably damaging |
Het |
Sft2d2 |
G |
T |
1: 165,011,564 (GRCm39) |
A110E |
probably benign |
Het |
Siglecf |
T |
A |
7: 43,001,377 (GRCm39) |
L115* |
probably null |
Het |
Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
Slco1a1 |
T |
A |
6: 141,892,313 (GRCm39) |
K18* |
probably null |
Het |
Spata1 |
A |
T |
3: 146,193,154 (GRCm39) |
Y112* |
probably null |
Het |
Tbc1d32 |
G |
A |
10: 56,056,620 (GRCm39) |
T440I |
probably benign |
Het |
Vmn1r159 |
A |
G |
7: 22,542,588 (GRCm39) |
V148A |
probably damaging |
Het |
Wnt16 |
C |
T |
6: 22,297,934 (GRCm39) |
R267C |
probably damaging |
Het |
Xylt1 |
A |
C |
7: 117,148,125 (GRCm39) |
S230R |
probably benign |
Het |
Zfp334 |
T |
C |
2: 165,223,017 (GRCm39) |
H342R |
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 |
IGL01551:Edar
|
APN |
10 |
58,441,860 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCTGCTCACAGGGTCAGTGTTC -3'
(R):5'- TAGTGAGGCACTCCAAGAAGCCAG -3'
Sequencing Primer
(F):5'- ACAGGGTCAGTGTTCCTCAC -3'
(R):5'- GCCAGTGGACCTATATTTAAAGGAC -3'
|
Posted On |
2015-02-04 |