Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Edar'

293865

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) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

58436611-58511476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58464403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 79 (F79I)

Ref Sequence

ENSEMBL: ENSMUSP00000003312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003312]

AlphaFold

Q9R187

Predicted Effect

probably damaging
Transcript: ENSMUST00000003312
AA Change: F79I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: F79I

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,790,764 (GRCm39)	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,391,701 (GRCm39)	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,747,785 (GRCm39)	S74P	probably benign	Het
Adprs	C	T	4: 126,211,701 (GRCm39)		probably benign	Het
Amn1	A	G	6: 149,070,944 (GRCm39)		probably null	Het
Antxr1	A	T	6: 87,264,038 (GRCm39)	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cabp5	A	T	7: 13,132,269 (GRCm39)	R13*	probably null	Het
Cacna1e	A	G	1: 154,296,859 (GRCm39)	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,875,263 (GRCm39)	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,283,918 (GRCm39)	P74S	probably damaging	Het
Clec3a	C	T	8: 115,152,240 (GRCm39)	S82L	probably benign	Het
Cnih3	A	G	1: 181,234,078 (GRCm39)	D43G	probably damaging	Het
Dpp10	G	A	1: 123,578,087 (GRCm39)	T128M	probably damaging	Het
Eif2ak4	T	A	2: 118,251,272 (GRCm39)	H199Q	probably benign	Het
Fermt1	A	G	2: 132,783,871 (GRCm39)	L46P	probably damaging	Het
Glipr1	A	G	10: 111,824,799 (GRCm39)		probably benign	Het
Gsdmc	T	C	15: 63,675,428 (GRCm39)	N129S	probably damaging	Het
Ift88	T	C	14: 57,718,871 (GRCm39)	S619P	possibly damaging	Het
Itga9	T	A	9: 118,679,873 (GRCm39)	V262E	probably benign	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mta1	T	A	12: 113,100,203 (GRCm39)	I688N	possibly damaging	Het
Muc4	A	T	16: 32,570,894 (GRCm39)	R651S	probably benign	Het
Opcml	A	G	9: 28,586,560 (GRCm39)	I93V	probably damaging	Het
Or12d17	C	T	17: 37,777,477 (GRCm39)	P127S	probably damaging	Het
Or13p4	A	G	4: 118,547,538 (GRCm39)	L37P	probably damaging	Het
Or9r7	A	G	10: 129,962,773 (GRCm39)	V51A	possibly damaging	Het
Parg	T	G	14: 31,984,638 (GRCm39)		probably null	Het
Rps3a3	A	G	13: 108,807,417 (GRCm39)		probably benign	Het
Safb	T	A	17: 56,907,813 (GRCm39)		probably benign	Het
Sat2	G	T	11: 69,513,575 (GRCm39)	C54F	probably damaging	Het
Scin	T	A	12: 40,127,530 (GRCm39)	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,146,717 (GRCm39)	S362T	probably benign	Het
Smchd1	T	C	17: 71,738,254 (GRCm39)	D537G	probably null	Het
Spred3	A	G	7: 28,865,830 (GRCm39)	S126P	probably benign	Het
Ssh1	C	T	5: 114,080,578 (GRCm39)	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,441 (GRCm39)	E28G	possibly damaging	Het
Stox1	A	T	10: 62,495,455 (GRCm39)		probably benign	Het
Syn3	T	C	10: 85,900,770 (GRCm39)	I373V	probably benign	Het
Tecrl	A	T	5: 83,502,674 (GRCm39)	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,033,191 (GRCm39)	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,002,524 (GRCm39)	Q147H	probably damaging	Het
Usp24	T	A	4: 106,264,326 (GRCm39)	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,264,487 (GRCm39)	D438V	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
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

2015-04-16