Incidental Mutation 'IGL01306:Edar'
ID 73452
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: 0.183) question?
Stock # IGL01306
Quality Score
Status
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

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Ago4 T C 4: 126,409,677 (GRCm39) probably null 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
Bltp1 T C 3: 37,059,162 (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 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
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign 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
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
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V 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
Other mutations in Edar
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-10-07