Incidental Mutation 'IGL01344:Edaradd'
ID 74980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edaradd
Ensembl Gene ENSMUSG00000095105
Gene Name EDAR associated via death domain
Synonyms EDAR (ectodysplasin-A receptor)-associated death domain, 1810032E07Rik, 5830469M23Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.685) question?
Stock # IGL01344
Quality Score
Status
Chromosome 13
Chromosomal Location 12487513-12535319 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12493371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 107 (D107G)
Ref Sequence ENSEMBL: ENSMUSP00000136158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179308]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000179308
AA Change: D107G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136158
Gene: ENSMUSG00000095105
AA Change: D107G

DomainStartEndE-ValueType
low complexity region 92 100 N/A INTRINSIC
Pfam:Death 116 192 1.4e-13 PFAM
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 was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Spontaneous mutations may lead to a kinked tail, reduced fertility, abnormal respiration and sparse hair. Chemically-induced mutants may show developmental defects in teeth, hair and ectoderm-derived glands, reduced viability and fertility, respiratory disorders, and lipid, myelin and brain defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,020 (GRCm39) probably benign Het
Aak1 A G 6: 86,923,139 (GRCm39) K237R possibly damaging Het
Antxrl A C 14: 33,797,554 (GRCm39) M510L probably benign Het
Bdp1 T C 13: 100,214,588 (GRCm39) D417G probably benign Het
C3 T G 17: 57,531,880 (GRCm39) N250T probably benign Het
Cacna2d1 T A 5: 16,575,629 (GRCm39) I1073K probably benign Het
Ccin A T 4: 43,984,069 (GRCm39) N159Y probably damaging Het
Cep76 T C 18: 67,756,467 (GRCm39) T455A possibly damaging Het
Chaf1a T A 17: 56,371,104 (GRCm39) V663E probably damaging Het
Chit1 T C 1: 134,079,052 (GRCm39) F454S probably damaging Het
Cimip2a A T 2: 25,110,345 (GRCm39) I86F possibly damaging Het
Clasp2 A G 9: 113,642,360 (GRCm39) probably null Het
Ctcfl G T 2: 172,936,527 (GRCm39) A615E possibly damaging Het
Efl1 T C 7: 82,330,688 (GRCm39) probably benign Het
Eps15l1 A G 8: 73,136,169 (GRCm39) probably null Het
Fahd2a T C 2: 127,283,987 (GRCm39) K18E probably benign Het
Fbxl20 A T 11: 97,990,926 (GRCm39) C147* probably null Het
Gsap G T 5: 21,447,881 (GRCm39) probably null Het
Gtse1 A T 15: 85,746,267 (GRCm39) probably null Het
Kcp A T 6: 29,498,950 (GRCm39) probably null Het
Llgl2 A G 11: 115,742,019 (GRCm39) D687G probably benign Het
Mcpt8 T A 14: 56,321,402 (GRCm39) I21F probably damaging Het
Met C A 6: 17,547,031 (GRCm39) S888Y probably benign Het
Mrtfa T C 15: 80,900,503 (GRCm39) T663A probably damaging Het
Ngf A G 3: 102,427,628 (GRCm39) T130A probably benign Het
Otud7b T A 3: 96,058,297 (GRCm39) probably benign Het
Preb C T 5: 31,113,388 (GRCm39) V349M probably damaging Het
Prmt1 G T 7: 44,627,059 (GRCm39) probably benign Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Ptprt T A 2: 161,393,737 (GRCm39) D1209V probably damaging Het
Rigi G A 4: 40,208,883 (GRCm39) T698I probably damaging Het
Sh3bp4 A G 1: 89,080,958 (GRCm39) N925S probably benign Het
Skint3 T A 4: 112,147,519 (GRCm39) M414K possibly damaging Het
Skor1 A T 9: 63,049,560 (GRCm39) S787R possibly damaging Het
Slc12a7 T A 13: 73,940,856 (GRCm39) I288N probably damaging Het
Smg1 A G 7: 117,790,059 (GRCm39) probably benign Het
Tpp2 C T 1: 44,022,422 (GRCm39) T940I probably benign Het
Trappc11 A T 8: 47,972,739 (GRCm39) I278N probably damaging Het
Umodl1 G A 17: 31,215,238 (GRCm39) V1021I probably damaging Het
Usp24 T C 4: 106,236,582 (GRCm39) S1059P possibly damaging Het
Other mutations in Edaradd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Edaradd APN 13 12,498,480 (GRCm39) critical splice donor site probably null
IGL01533:Edaradd APN 13 12,493,463 (GRCm39) splice site probably benign
achtung UTSW 13 12,493,378 (GRCm39) missense probably damaging 1.00
cornmuffin UTSW 13 12,493,323 (GRCm39) missense probably damaging 1.00
gizmo UTSW 13 0 () unclassified
R4649:Edaradd UTSW 13 12,523,304 (GRCm39) missense probably damaging 1.00
R5654:Edaradd UTSW 13 12,493,161 (GRCm39) missense possibly damaging 0.87
R5994:Edaradd UTSW 13 12,493,377 (GRCm39) missense probably damaging 1.00
R6496:Edaradd UTSW 13 12,493,323 (GRCm39) missense probably damaging 1.00
R7438:Edaradd UTSW 13 12,493,338 (GRCm39) missense probably damaging 1.00
R8388:Edaradd UTSW 13 12,498,484 (GRCm39) missense probably benign 0.35
Posted On 2013-10-07