Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01533:Edaradd'

89861

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: 0.744) question?

Stock #

IGL01533

Quality Score

Status

Chromosome

Chromosomal Location

12487513-12535319 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 12493463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179308]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000179308

SMART Domains

Protein: ENSMUSP00000136158
Gene: ENSMUSG00000095105

Domain	Start	End	E-Value	Type
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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,538,488 (GRCm39)	E757*	probably null	Het
Arhgap15	T	C	2: 44,133,165 (GRCm39)	V357A	probably damaging	Het
Asb13	T	C	13: 3,692,164 (GRCm39)	V48A	probably benign	Het
Bbs7	T	C	3: 36,664,384 (GRCm39)	R74G	possibly damaging	Het
Capn11	T	C	17: 45,943,830 (GRCm39)	H568R	probably benign	Het
Cbx5	T	C	15: 103,114,061 (GRCm39)	E61G	probably damaging	Het
Ccdc158	T	C	5: 92,757,815 (GRCm39)		probably null	Het
Col14a1	C	A	15: 55,284,236 (GRCm39)	N832K	unknown	Het
Cyp2a4	A	T	7: 26,007,969 (GRCm39)	K125N	probably damaging	Het
Dhx16	T	C	17: 36,192,939 (GRCm39)	L215P	probably damaging	Het
Dtx4	T	C	19: 12,455,579 (GRCm39)	M480V	possibly damaging	Het
Galnt13	T	A	2: 54,770,144 (GRCm39)	M312K	probably damaging	Het
Gcdh	T	A	8: 85,615,991 (GRCm39)	R337W	probably damaging	Het
Gm28557	A	T	13: 67,219,396 (GRCm39)	C109*	probably null	Het
Gpr22	C	T	12: 31,758,709 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,502,395 (GRCm39)	L379F	probably damaging	Het
Gxylt2	T	C	6: 100,760,098 (GRCm39)	L211P	probably damaging	Het
Igsf10	T	A	3: 59,226,651 (GRCm39)	I2341F	probably damaging	Het
Macf1	T	C	4: 123,367,666 (GRCm39)	D2365G	probably damaging	Het
Morc2b	A	G	17: 33,354,695 (GRCm39)		probably benign	Het
Ncoa3	T	C	2: 165,896,945 (GRCm39)	S579P	probably benign	Het
Nlgn1	T	C	3: 25,490,527 (GRCm39)	N400S	possibly damaging	Het
Or5w17	C	A	2: 87,583,412 (GRCm39)	R308S	probably benign	Het
Or8g17	C	T	9: 38,930,097 (GRCm39)	A247T	probably damaging	Het
Pi4ka	A	G	16: 17,126,065 (GRCm39)	S1102P	probably benign	Het
Polr1e	A	G	4: 45,019,328 (GRCm39)	Y59C	probably damaging	Het
Prex2	C	T	1: 11,256,965 (GRCm39)	Q1226*	probably null	Het
Rab12	A	T	17: 66,804,430 (GRCm39)	I176K	probably damaging	Het
Ryr2	A	T	13: 11,736,676 (GRCm39)	N2250K	probably damaging	Het
Sbf1	T	C	15: 89,172,919 (GRCm39)	T1865A	probably damaging	Het
Sema6b	G	A	17: 56,436,499 (GRCm39)		probably benign	Het
Smarcb1	C	T	10: 75,752,602 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,722,511 (GRCm39)	L845S	probably damaging	Het
Stat4	T	A	1: 52,137,578 (GRCm39)	N456K	probably damaging	Het
Tex264	A	G	9: 106,550,798 (GRCm39)	I133T	probably benign	Het
Thoc1	T	C	18: 9,962,376 (GRCm39)	V87A	probably benign	Het
Tmem131	C	T	1: 36,857,803 (GRCm39)	D778N	probably damaging	Het
Tspan14	A	G	14: 40,638,776 (GRCm39)	I88T	probably benign	Het
Ttn	C	A	2: 76,562,918 (GRCm39)	V28679L	possibly damaging	Het
Ttn	A	G	2: 76,782,285 (GRCm39)	S984P	probably damaging	Het
Vangl1	T	C	3: 102,070,667 (GRCm39)	E423G	possibly damaging	Het

Other mutations in Edaradd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Edaradd	APN	13	12,498,480 (GRCm39)	critical splice donor site	probably null
IGL01344:Edaradd	APN	13	12,493,371 (GRCm39)	missense	probably damaging	1.00
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

2013-12-03