Incidental Mutation 'IGL01344:Edaradd'
ID74980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edaradd
Ensembl Gene ENSMUSG00000095105
Gene NameEDAR (ectodysplasin-A receptor)-associated death domain
Synonyms5830469M23Rik, 1810032E07Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.446) question?
Stock #IGL01344
Quality Score
Status
Chromosome13
Chromosomal Location12472632-12520438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12478490 bp
ZygosityHeterozygous
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]
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: 156,857,100 probably benign Het
Aak1 A G 6: 86,946,157 K237R possibly damaging Het
Antxrl A C 14: 34,075,597 M510L probably benign Het
Bdp1 T C 13: 100,078,080 D417G probably benign Het
C3 T G 17: 57,224,880 N250T probably benign Het
Cacna2d1 T A 5: 16,370,631 I1073K probably benign Het
Ccin A T 4: 43,984,069 N159Y probably damaging Het
Cep76 T C 18: 67,623,397 T455A possibly damaging Het
Chaf1a T A 17: 56,064,104 V663E probably damaging Het
Chit1 T C 1: 134,151,314 F454S probably damaging Het
Clasp2 A G 9: 113,813,292 probably null Het
Ctcfl G T 2: 173,094,734 A615E possibly damaging Het
Ddx58 G A 4: 40,208,883 T698I probably damaging Het
Efl1 T C 7: 82,681,480 probably benign Het
Eps15l1 A G 8: 72,382,325 probably null Het
Fahd2a T C 2: 127,442,067 K18E probably benign Het
Fam166a A T 2: 25,220,333 I86F possibly damaging Het
Fbxl20 A T 11: 98,100,100 C147* probably null Het
Gsap G T 5: 21,242,883 probably null Het
Gtse1 A T 15: 85,862,066 probably null Het
Kcp A T 6: 29,498,951 probably null Het
Llgl2 A G 11: 115,851,193 D687G probably benign Het
Mcpt8 T A 14: 56,083,945 I21F probably damaging Het
Met C A 6: 17,547,032 S888Y probably benign Het
Mkl1 T C 15: 81,016,302 T663A probably damaging Het
Ngf A G 3: 102,520,312 T130A probably benign Het
Otud7b T A 3: 96,150,980 probably benign Het
Preb C T 5: 30,956,044 V349M probably damaging Het
Prmt1 G T 7: 44,977,635 probably benign Het
Psg27 T C 7: 18,560,417 D355G probably damaging Het
Ptprt T A 2: 161,551,817 D1209V probably damaging Het
Sh3bp4 A G 1: 89,153,236 N925S probably benign Het
Skint3 T A 4: 112,290,322 M414K possibly damaging Het
Skor1 A T 9: 63,142,278 S787R possibly damaging Het
Slc12a7 T A 13: 73,792,737 I288N probably damaging Het
Smg1 A G 7: 118,190,836 probably benign Het
Tpp2 C T 1: 43,983,262 T940I probably benign Het
Trappc11 A T 8: 47,519,704 I278N probably damaging Het
Umodl1 G A 17: 30,996,264 V1021I probably damaging Het
Usp24 T C 4: 106,379,385 S1059P possibly damaging Het
Other mutations in Edaradd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Edaradd APN 13 12483599 critical splice donor site probably null
IGL01533:Edaradd APN 13 12478582 splice site probably benign
achtung UTSW 13 12478497 missense probably damaging 1.00
cornmuffin UTSW 13 12478442 missense probably damaging 1.00
gizmo UTSW 13 unclassified
R4649:Edaradd UTSW 13 12508423 missense probably damaging 1.00
R5654:Edaradd UTSW 13 12478280 missense possibly damaging 0.87
R5994:Edaradd UTSW 13 12478496 missense probably damaging 1.00
R6496:Edaradd UTSW 13 12478442 missense probably damaging 1.00
R7438:Edaradd UTSW 13 12478457 missense probably damaging 1.00
Posted On2013-10-07