Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02142:Efna5'

281607

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efna5

Ensembl Gene

ENSMUSG00000048915

Gene Name

ephrin A5

Synonyms

AL-1, RAGS, Ephrin-A5, Epl7, EFL-5, LERK-7

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02142

Quality Score

Status

Chromosome

Chromosomal Location

62911179-63188312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62914340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 201 (L201F)

Ref Sequence

ENSEMBL: ENSMUSP00000077883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076840] [ENSMUST00000078839]

AlphaFold

O08543

Predicted Effect

unknown
Transcript: ENSMUST00000076840
AA Change: L228F

SMART Domains

Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915
AA Change: L228F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Ephrin	29	158	4.5e-42	PFAM
low complexity region	214	228	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000078839
AA Change: L201F

SMART Domains

Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915
AA Change: L201F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Ephrin	26	164	2.4e-58	PFAM
low complexity region	187	201	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.] Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). 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. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormalities in establishing correct axonal connections involving the retinal, motor, vomeronasal, and tactile axons to their respective targets. Some mutants develop neural tube defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,963,575 (GRCm39)	S2060P	probably benign	Het
Abcg4	A	G	9: 44,189,014 (GRCm39)	F426S	probably benign	Het
Actn1	C	T	12: 80,222,929 (GRCm39)		probably null	Het
Adgrd1	T	A	5: 129,208,648 (GRCm39)	H251Q	probably benign	Het
Adgrg3	C	T	8: 95,766,483 (GRCm39)	P385S	probably damaging	Het
Ampd2	G	T	3: 107,987,660 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,155,360 (GRCm39)	S86P	probably damaging	Het
Art5	C	T	7: 101,747,123 (GRCm39)	E121K	probably null	Het
Atad5	G	A	11: 79,985,023 (GRCm39)	E37K	probably benign	Het
Atp13a5	A	G	16: 29,053,315 (GRCm39)	V1084A	probably benign	Het
Cfap44	T	C	16: 44,241,507 (GRCm39)	I626T	probably benign	Het
Col16a1	T	A	4: 129,945,440 (GRCm39)		probably null	Het
Defa22	T	G	8: 21,653,130 (GRCm39)	C81G	possibly damaging	Het
Dnm2	A	G	9: 21,411,649 (GRCm39)	Y622C	probably damaging	Het
Elac1	T	C	18: 73,871,991 (GRCm39)	R335G	probably benign	Het
Enpp5	T	C	17: 44,396,468 (GRCm39)	V460A	probably benign	Het
Esr2	A	G	12: 76,169,969 (GRCm39)	V453A	probably benign	Het
Fam210b	T	A	2: 172,194,497 (GRCm39)		probably benign	Het
Fcgr1	T	C	3: 96,191,893 (GRCm39)	Y305C	probably benign	Het
Fcrlb	A	G	1: 170,736,248 (GRCm39)	V176A	probably damaging	Het
Gabrq	T	A	X: 71,879,783 (GRCm39)	V256E	possibly damaging	Het
Gba1	T	C	3: 89,113,148 (GRCm39)	L193P	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Helq	A	G	5: 100,930,960 (GRCm39)	F597L	probably benign	Het
Hrh1	A	T	6: 114,457,204 (GRCm39)	I162L	probably damaging	Het
Jph1	A	T	1: 17,161,884 (GRCm39)	F259L	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Kdm4c	T	A	4: 74,225,253 (GRCm39)		probably null	Het
Kif13a	T	C	13: 46,925,011 (GRCm39)	T308A	probably benign	Het
Lars1	C	T	18: 42,360,345 (GRCm39)	V704M	probably benign	Het
Lcmt2	A	G	2: 120,969,394 (GRCm39)	L343P	possibly damaging	Het
Lhfpl1	A	G	X: 144,123,733 (GRCm39)	F125L	probably benign	Het
Lmbrd2	C	A	15: 9,186,772 (GRCm39)	D582E	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Macf1	T	C	4: 123,365,842 (GRCm39)	D1408G	probably benign	Het
Magi3	T	C	3: 103,923,219 (GRCm39)	K1166R	probably benign	Het
Marchf5	T	C	19: 37,197,892 (GRCm39)		probably benign	Het
Ms4a20	G	A	19: 11,087,695 (GRCm39)	Q79*	probably null	Het
Naa25	A	G	5: 121,564,825 (GRCm39)	Q555R	possibly damaging	Het
Npat	A	G	9: 53,481,207 (GRCm39)	T1005A	probably benign	Het
Nt5c3	G	A	6: 56,863,670 (GRCm39)	A108V	probably damaging	Het
Ocrl	T	A	X: 47,024,995 (GRCm39)	M322K	probably damaging	Het
Odad2	C	A	18: 7,214,601 (GRCm39)	W733C	probably damaging	Het
Or8g2	A	G	9: 39,821,935 (GRCm39)	T279A	possibly damaging	Het
Psg23	A	T	7: 18,344,345 (GRCm39)	V370E	probably benign	Het
Rassf2	A	T	2: 131,838,353 (GRCm39)	M311K	possibly damaging	Het
Rhobtb3	A	G	13: 76,025,614 (GRCm39)	Y501H	probably damaging	Het
Rpl4	A	G	9: 64,083,488 (GRCm39)	D179G	possibly damaging	Het
Scn2a	T	A	2: 65,546,182 (GRCm39)	I915N	probably damaging	Het
Scn3a	T	A	2: 65,356,965 (GRCm39)	T160S	possibly damaging	Het
Slx4ip	T	G	2: 136,909,942 (GRCm39)	N242K	possibly damaging	Het
Spidr	T	A	16: 15,865,945 (GRCm39)	Q288L	probably benign	Het
Sun1	A	T	5: 139,216,918 (GRCm39)	H255L	possibly damaging	Het
Tacc1	C	T	8: 25,665,233 (GRCm39)	G51S	probably damaging	Het
Tet2	T	A	3: 133,185,900 (GRCm39)	N1179I	possibly damaging	Het
Tgfbrap1	T	C	1: 43,101,752 (GRCm39)	Y349C	probably damaging	Het
Tnrc6a	T	C	7: 122,751,414 (GRCm39)		probably benign	Het
Trim32	T	C	4: 65,532,736 (GRCm39)	L431P	probably damaging	Het
Vmn1r35	A	G	6: 66,656,334 (GRCm39)	L112S	probably damaging	Het
Vmn2r100	A	C	17: 19,742,583 (GRCm39)	H319P	probably damaging	Het
Wdr20rt	A	G	12: 65,274,039 (GRCm39)	T328A	probably benign	Het
Zbtb17	T	C	4: 141,192,293 (GRCm39)	Y413H	probably benign	Het

Other mutations in Efna5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Efna5	APN	17	62,920,374 (GRCm39)	missense	possibly damaging	0.73
IGL02152:Efna5	APN	17	62,958,055 (GRCm39)	missense	probably benign
IGL02534:Efna5	APN	17	62,920,384 (GRCm39)	nonsense	probably null
IGL02556:Efna5	APN	17	62,958,023 (GRCm39)	missense	probably damaging	0.99
R0041:Efna5	UTSW	17	62,914,467 (GRCm39)	splice site	probably benign
R0265:Efna5	UTSW	17	62,958,068 (GRCm39)	missense	probably damaging	1.00
R0422:Efna5	UTSW	17	62,914,414 (GRCm39)	missense	probably benign	0.05
R0565:Efna5	UTSW	17	63,188,031 (GRCm39)	missense	probably damaging	1.00
R2039:Efna5	UTSW	17	63,188,061 (GRCm39)	missense	probably benign	0.00
R2570:Efna5	UTSW	17	63,188,023 (GRCm39)	missense	probably benign	0.04
R4621:Efna5	UTSW	17	62,958,040 (GRCm39)	missense	probably benign	0.00
R4622:Efna5	UTSW	17	62,958,040 (GRCm39)	missense	probably benign	0.00
R5672:Efna5	UTSW	17	63,188,025 (GRCm39)	missense	probably damaging	1.00
R5723:Efna5	UTSW	17	62,914,458 (GRCm39)	missense	probably damaging	1.00
R7876:Efna5	UTSW	17	62,957,929 (GRCm39)	missense	possibly damaging	0.74
R8049:Efna5	UTSW	17	62,957,977 (GRCm39)	missense	probably benign	0.39
R8432:Efna5	UTSW	17	62,958,017 (GRCm39)	missense	probably damaging	1.00
R8768:Efna5	UTSW	17	63,188,125 (GRCm39)	start codon destroyed	probably null	0.33
R8856:Efna5	UTSW	17	62,914,374 (GRCm39)	missense	unknown
R8921:Efna5	UTSW	17	63,188,053 (GRCm39)	missense	possibly damaging	0.75
RF007:Efna5	UTSW	17	62,920,389 (GRCm39)	missense	probably benign	0.00
X0021:Efna5	UTSW	17	62,914,395 (GRCm39)	missense	probably damaging	0.98
X0025:Efna5	UTSW	17	62,958,032 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16