Mutagenetix > Incidental Mutation

Incidental Mutation 'R6932:Efna1'

540074

Institutional Source

Beutler Lab

Gene Symbol

Efna1

Ensembl Gene

ENSMUSG00000027954

Gene Name

ephrin A1

Synonyms

Eplg1, B61, Epl1, EFL-1, LERK-1, Lerk1

MMRRC Submission

045047-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89179037-89188258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89180091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 143 (R143G)

Ref Sequence

ENSEMBL: ENSMUSP00000113098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029565] [ENSMUST00000029566] [ENSMUST00000107460] [ENSMUST00000118587] [ENSMUST00000118860] [ENSMUST00000130230] [ENSMUST00000185119]

AlphaFold

P52793

Predicted Effect

probably benign
Transcript: ENSMUST00000029565

SMART Domains

Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	9	95	2.3e-32	PFAM
transmembrane domain	96	118	N/A	INTRINSIC
Pfam:MtN3_slv	127	213	7e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029566
AA Change: R165G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029566
Gene: ENSMUSG00000027954
AA Change: R165G

Domain	Start	End	E-Value	Type
Pfam:Ephrin	18	147	1.2e-45	PFAM
low complexity region	187	202	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107460

SMART Domains

Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	9	95	4.5e-33	PFAM
Pfam:MtN3_slv	92	159	6.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118587
AA Change: R102G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112904
Gene: ENSMUSG00000027954
AA Change: R102G

Domain	Start	End	E-Value	Type
Pfam:Ephrin	1	90	2.2e-34	PFAM
low complexity region	124	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118860
AA Change: R143G

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113098
Gene: ENSMUSG00000027954
AA Change: R143G

Domain	Start	End	E-Value	Type
Pfam:Ephrin	15	153	1.4e-58	PFAM
low complexity region	165	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130230

SMART Domains

Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	1	63	1.7e-23	PFAM
transmembrane domain	64	86	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185119

SMART Domains

Protein: ENSMUSP00000139128
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	9	74	1.6e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

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 ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased cardiac muscle contractility associated with increased mitral and aortic valve thickness and increased epithelial to mesenchyme transition in outflow tract endocardial cushions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,331 (GRCm39)	F198I	probably damaging	Het
Acy1	A	G	9: 106,314,826 (GRCm39)		probably null	Het
Adk	A	G	14: 21,126,376 (GRCm39)	M1V	probably null	Het
Ahi1	A	G	10: 20,839,590 (GRCm39)	D167G	probably benign	Het
Ankrd16	T	C	2: 11,791,054 (GRCm39)	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,251,351 (GRCm39)	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,100,769 (GRCm39)	M673I	probably damaging	Het
BC005624	T	C	2: 30,868,940 (GRCm39)	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,238,745 (GRCm39)	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,784,547 (GRCm39)	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,049,932 (GRCm39)		probably null	Het
Cep170	G	A	1: 176,589,003 (GRCm39)	L541F	possibly damaging	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Cgrrf1	T	A	14: 47,091,179 (GRCm39)	N234K	probably benign	Het
Ctrc	C	T	4: 141,568,879 (GRCm39)	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,091,945 (GRCm39)	V192M	possibly damaging	Het
Dhx38	A	T	8: 110,279,307 (GRCm39)	L1013Q	probably damaging	Het
Dnah1	T	A	14: 31,009,733 (GRCm39)	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,898,514 (GRCm39)	N3765K	possibly damaging	Het
Dnah17	C	A	11: 117,950,905 (GRCm39)	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,161,680 (GRCm39)	T306I	probably benign	Het
Efemp2	T	A	19: 5,530,273 (GRCm39)	C287S	probably damaging	Het
Emilin1	A	C	5: 31,074,421 (GRCm39)	N221H	probably damaging	Het
Epg5	A	G	18: 77,991,824 (GRCm39)	T174A	probably benign	Het
Fam184b	T	A	5: 45,690,243 (GRCm39)		probably null	Het
Fchsd2	T	A	7: 100,926,621 (GRCm39)	C570*	probably null	Het
Gm4787	A	T	12: 81,425,974 (GRCm39)	D61E	probably benign	Het
Gm7356	C	T	17: 14,221,925 (GRCm39)	G35R	probably damaging	Het
Gm8220	A	G	14: 44,525,645 (GRCm39)	T20A	probably damaging	Het
Hivep2	C	T	10: 14,004,245 (GRCm39)	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,733,692 (GRCm39)	V43A	probably damaging	Het
Klhl33	A	T	14: 51,129,373 (GRCm39)	C619S	probably benign	Het
Kmt2a	A	T	9: 44,740,558 (GRCm39)		probably benign	Het
Lax1	A	G	1: 133,607,896 (GRCm39)	C282R	probably benign	Het
Lrrd1	A	G	5: 3,901,395 (GRCm39)	K567E	probably benign	Het
Luzp1	C	T	4: 136,268,124 (GRCm39)	R116*	probably null	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Macrod2	A	T	2: 140,261,833 (GRCm39)	N38I	probably damaging	Het
Map3k14	A	T	11: 103,132,958 (GRCm39)	I80N	probably damaging	Het
Mcm9	A	G	10: 53,496,299 (GRCm39)	S368P	probably benign	Het
Mfge8	T	C	7: 78,793,049 (GRCm39)	D139G	probably benign	Het
Mmp19	A	T	10: 128,627,523 (GRCm39)	I54F	probably benign	Het
Myo15a	G	T	11: 60,390,320 (GRCm39)	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,546,327 (GRCm39)	V277L	probably benign	Het
Myoc	A	G	1: 162,466,915 (GRCm39)	D28G	probably damaging	Het
Myrf	G	T	19: 10,196,924 (GRCm39)	N487K	probably damaging	Het
Omd	T	A	13: 49,743,710 (GRCm39)	F253L	probably damaging	Het
Or2ag19	G	T	7: 106,444,009 (GRCm39)	G64*	probably null	Het
Or5t5	C	G	2: 86,616,499 (GRCm39)	L142V	probably damaging	Het
Or6n1	G	A	1: 173,917,316 (GRCm39)	A237T	probably damaging	Het
Papss1	T	G	3: 131,305,732 (GRCm39)	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,632,675 (GRCm39)	F580Y	probably benign	Het
Polk	T	A	13: 96,653,189 (GRCm39)	K70N	probably damaging	Het
Ppig	T	A	2: 69,562,755 (GRCm39)	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,636,291 (GRCm39)	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Reln	T	C	5: 22,190,855 (GRCm39)	I1511V	probably benign	Het
Rnh1	T	C	7: 140,743,096 (GRCm39)	N268S	probably damaging	Het
Rpia	A	G	6: 70,750,424 (GRCm39)	V236A	probably benign	Het
Rpl10a	G	T	17: 28,548,424 (GRCm39)	V80L	probably benign	Het
Sap130	T	G	18: 31,799,407 (GRCm39)	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,120,193 (GRCm39)	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,864,778 (GRCm39)	S470P	probably benign	Het
Slc25a32	A	G	15: 38,960,984 (GRCm39)	V233A	possibly damaging	Het
Slc2a2	T	C	3: 28,771,668 (GRCm39)	S158P	probably benign	Het
Slc6a2	A	G	8: 93,722,653 (GRCm39)	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,151,936 (GRCm39)	T77K	probably benign	Het
Snd1	A	T	6: 28,626,100 (GRCm39)	D385V	probably benign	Het
Ssh3	A	T	19: 4,314,448 (GRCm39)	F369I	probably damaging	Het
Syk	A	G	13: 52,766,495 (GRCm39)		probably null	Het
Tbc1d16	A	G	11: 119,099,742 (GRCm39)	S211P	probably damaging	Het
Ttc3	A	G	16: 94,244,312 (GRCm39)	T1439A	probably benign	Het
Usp18	A	G	6: 121,229,473 (GRCm39)	M31V	probably benign	Het
Vav1	G	T	17: 57,609,330 (GRCm39)	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,655,439 (GRCm39)	V1863D	probably benign	Het
Xdh	T	A	17: 74,229,557 (GRCm39)	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,737,336 (GRCm39)		probably benign	Het
Zfp345	G	A	2: 150,315,331 (GRCm39)	H69Y	probably damaging	Het
Zfp652	G	T	11: 95,654,667 (GRCm39)	V357L	probably benign	Het
Zfp712	A	T	13: 67,188,891 (GRCm39)	Y545*	probably null	Het
Zgrf1	T	C	3: 127,353,281 (GRCm39)		probably null	Het

Other mutations in Efna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Efna1	APN	3	89,180,123 (GRCm39)	missense	probably benign	0.01
IGL02480:Efna1	APN	3	89,179,902 (GRCm39)	missense	probably benign	0.02
R1816:Efna1	UTSW	3	89,183,694 (GRCm39)	missense	possibly damaging	0.77
R2269:Efna1	UTSW	3	89,183,646 (GRCm39)	missense	possibly damaging	0.72
R6916:Efna1	UTSW	3	89,183,695 (GRCm39)	missense	possibly damaging	0.65
R6965:Efna1	UTSW	3	89,186,782 (GRCm39)	missense	probably damaging	1.00
R8210:Efna1	UTSW	3	89,183,520 (GRCm39)	missense	probably damaging	0.99
R8924:Efna1	UTSW	3	89,183,635 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- AAACCTGTACTTCCGGGTCATC -3'
(R):5'- TGAAGGTGACTGTCAATGGC -3'

Sequencing Primer
(F):5'- GTACTTCCGGGTCATCTGCAAG -3'
(R):5'- CAAAATCAGTGAGTGTCAGGCCC -3'

Posted On

2018-11-06