Mutagenetix > Incidental Mutation

Incidental Mutation 'R9443:Eda'

713788

Institutional Source

Beutler Lab

Gene Symbol

Eda

Ensembl Gene

ENSMUSG00000059327

Gene Name

ectodysplasin-A

Synonyms

Ed1, EDA1, Eda-A1, Eda-A2

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9443 (G1)

Quality Score

222.003

Status

Not validated

Chromosome

Chromosomal Location

99019212-99444366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99019775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 130 (R130L)

Ref Sequence

ENSEMBL: ENSMUSP00000109409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071453] [ENSMUST00000113775] [ENSMUST00000113776] [ENSMUST00000113777] [ENSMUST00000113778] [ENSMUST00000113779] [ENSMUST00000113780] [ENSMUST00000113781] [ENSMUST00000113783]

AlphaFold

O54693

Predicted Effect

probably benign
Transcript: ENSMUST00000071453
AA Change: R130L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071397
Gene: ENSMUSG00000059327
AA Change: R130L

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC
Pfam:Collagen	158	239	1.8e-7	PFAM
TNF	241	377	1.22e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113775
AA Change: R130L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109405
Gene: ENSMUSG00000059327
AA Change: R130L

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC
Pfam:Collagen	160	247	6.2e-6	PFAM
Blast:TNF	249	306	4e-33	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113776
AA Change: R130L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109406
Gene: ENSMUSG00000059327
AA Change: R130L

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC
Pfam:Collagen	160	247	6.2e-6	PFAM
Blast:TNF	249	306	4e-33	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113777
AA Change: R130L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109407
Gene: ENSMUSG00000059327
AA Change: R130L

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC
Pfam:Collagen	160	247	6.2e-6	PFAM
Blast:TNF	249	306	4e-33	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113778
AA Change: R130L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109408
Gene: ENSMUSG00000059327
AA Change: R130L

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC
Pfam:Collagen	160	247	1.8e-7	PFAM
TNF	249	380	9.25e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000113779
AA Change: R130L

SMART Domains

Protein: ENSMUSP00000109409
Gene: ENSMUSG00000059327
AA Change: R130L

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC
low complexity region	147	162	N/A	INTRINSIC
low complexity region	171	178	N/A	INTRINSIC
low complexity region	180	236	N/A	INTRINSIC
TNF	249	385	1.22e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113780
AA Change: R130L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109410
Gene: ENSMUSG00000059327
AA Change: R130L

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC
Pfam:Collagen	160	247	1.8e-7	PFAM
Pfam:TNF	283	371	2.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113781
AA Change: R130L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109411
Gene: ENSMUSG00000059327
AA Change: R130L

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC
Pfam:Collagen	158	239	1.8e-7	PFAM
TNF	241	372	9.25e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113783
AA Change: R130L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109413
Gene: ENSMUSG00000059327
AA Change: R130L

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC
Pfam:Collagen	158	239	1.8e-7	PFAM
TNF	241	377	1.22e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutant hemizygous males and homozygous females have defects in ectodermal derivatives with absence of guard hairs, zigzags and tail hair, reduced eyelid opening, fewer vibrissae and defects of teeth and exocrine glands. Homozygous females are often sterile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,146,140 (GRCm39)	Y503H	probably benign	Het
Adck1	T	C	12: 88,338,550 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,879,859 (GRCm39)	D337G	probably damaging	Het
Afg1l	G	A	10: 42,189,587 (GRCm39)	T448M	probably damaging	Het
Aqp6	T	C	15: 99,499,409 (GRCm39)	S41P		Het
Atad5	T	G	11: 80,023,388 (GRCm39)	V1500G	probably benign	Het
B3galt9	C	T	2: 34,728,623 (GRCm39)	Q141*	probably null	Het
Btbd18	T	A	2: 84,497,524 (GRCm39)	D387E	probably benign	Het
Catsperd	A	G	17: 56,969,720 (GRCm39)	N605D	possibly damaging	Het
Ccdc24	C	T	4: 117,728,355 (GRCm39)	V102I	probably benign	Het
Cenpe	T	A	3: 134,976,609 (GRCm39)	D2405E	probably damaging	Het
Cfap46	T	C	7: 139,195,023 (GRCm39)	D2249G		Het
Chrm1	A	T	19: 8,655,550 (GRCm39)	Y85F	possibly damaging	Het
Clstn3	C	T	6: 124,428,358 (GRCm39)	G465S	probably damaging	Het
Col7a1	G	A	9: 108,785,059 (GRCm39)	G262D	unknown	Het
Copg2	T	C	6: 30,750,578 (GRCm39)	T736A	probably benign	Het
Coro2b	T	C	9: 62,333,080 (GRCm39)	E435G	probably benign	Het
Cp	A	T	3: 20,033,083 (GRCm39)	I637F	possibly damaging	Het
Cpne7	T	C	8: 123,853,411 (GRCm39)	F239L	probably damaging	Het
Cstdc2	C	T	2: 148,689,878 (GRCm39)	E92K	probably damaging	Het
Cul2	T	A	18: 3,434,041 (GRCm39)	Y679*	probably null	Het
Dhx8	T	C	11: 101,655,740 (GRCm39)	Y1158H	probably damaging	Het
Elp6	T	A	9: 110,150,004 (GRCm39)	V265D	probably damaging	Het
Eomes	A	G	9: 118,313,640 (GRCm39)	T562A		Het
Fam187b	A	T	7: 30,677,067 (GRCm39)	E192V	probably damaging	Het
Foxi1	T	C	11: 34,155,671 (GRCm39)	T320A	probably benign	Het
Gga1	C	T	15: 78,765,247 (GRCm39)	T18I	possibly damaging	Het
Grik4	T	A	9: 42,571,037 (GRCm39)	M223L	probably benign	Het
Hdac7	T	C	15: 97,700,352 (GRCm39)	N594S	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Itpr3	T	G	17: 27,324,523 (GRCm39)	F1235C	probably damaging	Het
Klhdc4	A	G	8: 122,523,765 (GRCm39)	S484P	possibly damaging	Het
Kmt2c	A	G	5: 25,515,045 (GRCm39)	S2933P	probably damaging	Het
Lama5	T	A	2: 179,843,522 (GRCm39)	H475L	probably benign	Het
Ly6g6f	A	G	17: 35,299,826 (GRCm39)	L292P	possibly damaging	Het
Macf1	T	A	4: 123,365,668 (GRCm39)	Q3031L	probably benign	Het
Mbd5	T	G	2: 49,146,712 (GRCm39)	S307R	probably damaging	Het
Mertk	T	C	2: 128,604,029 (GRCm39)	F388L	probably benign	Het
Mmp11	A	G	10: 75,762,733 (GRCm39)	F240S	probably damaging	Het
Mroh1	T	A	15: 76,318,964 (GRCm39)	F949I	probably damaging	Het
Mroh2b	T	C	15: 4,973,821 (GRCm39)	L1113P	probably damaging	Het
Ndufv1	C	A	19: 4,057,614 (GRCm39)	A454S	probably benign	Het
Or13e8	A	G	4: 43,696,591 (GRCm39)	L194P	probably damaging	Het
Or56b2j	T	C	7: 104,352,821 (GRCm39)	S16P	probably benign	Het
Or5d46	T	A	2: 88,170,364 (GRCm39)	W152R	probably damaging	Het
Osbpl1a	C	A	18: 13,031,244 (GRCm39)	D329Y	probably benign	Het
Pcdh1	C	A	18: 38,330,633 (GRCm39)	R929L	probably damaging	Het
Phactr2	C	T	10: 13,122,841 (GRCm39)	R427K	probably benign	Het
Pip5k1c	T	C	10: 81,153,184 (GRCm39)	Y670H	probably damaging	Het
Plbd1	T	A	6: 136,611,555 (GRCm39)	N241Y	probably damaging	Het
Pmvk	C	A	3: 89,374,956 (GRCm39)	Q139K	probably benign	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Rab3gap2	T	A	1: 184,967,523 (GRCm39)	C136S	probably damaging	Het
Rcor3	A	G	1: 191,786,050 (GRCm39)	V396A	probably damaging	Het
Rgs20	C	A	1: 4,982,629 (GRCm39)	E147*	probably null	Het
Rnf167	G	T	11: 70,540,777 (GRCm39)	L170F	probably damaging	Het
Scn9a	T	C	2: 66,395,553 (GRCm39)	T164A	probably damaging	Het
Skic3	A	G	13: 76,266,288 (GRCm39)	Q210R	probably benign	Het
Slc52a3	A	T	2: 151,846,299 (GRCm39)	I87F	probably benign	Het
Sntn	A	T	14: 13,682,364 (GRCm38)	M146L		Het
Svep1	C	T	4: 58,179,697 (GRCm39)	R182H	possibly damaging	Het
Taar7f	A	G	10: 23,926,311 (GRCm39)	I302V	probably benign	Het
Tm4sf20	T	C	1: 82,746,090 (GRCm39)	I17V	probably benign	Het
Traf1	T	C	2: 34,836,748 (GRCm39)	T270A	probably benign	Het
Trpm5	C	T	7: 142,638,860 (GRCm39)	E304K	probably benign	Het
Ttll8	T	C	15: 88,809,863 (GRCm39)	D311G	possibly damaging	Het
Unc79	T	A	12: 103,037,035 (GRCm39)	F608I	probably damaging	Het
Vmn2r11	A	T	5: 109,195,159 (GRCm39)	C722*	probably null	Het
Wdr7	A	G	18: 63,853,407 (GRCm39)	T36A	probably damaging	Het
Ybx2	C	T	11: 69,831,188 (GRCm39)	P261L		Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp260	T	C	7: 29,804,249 (GRCm39)	S50P	probably benign	Het
Zfp319	A	T	8: 96,054,922 (GRCm39)	F427Y	probably benign	Het
Zfp369	T	C	13: 65,444,347 (GRCm39)	S497P	possibly damaging	Het

Other mutations in Eda

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1466:Eda	UTSW	X	99,435,998 (GRCm39)	splice site	probably benign
R9580:Eda	UTSW	X	99,019,775 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAGAGTTGCGGTCCGAATTG -3'
(R):5'- TTTCGCTAAGCAGCCCACAC -3'

Sequencing Primer
(F):5'- CGAATTGCGGCGGGAAC -3'
(R):5'- AGGCTGGGCTTTCCAACTC -3'

Posted On

2022-06-15