Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Efna5'

282051

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 #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

62911179-63188312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62958055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 67 (D67G)

Ref Sequence

ENSEMBL: ENSMUSP00000077883 (fasta)

Gene Model

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

AlphaFold

O08543

Predicted Effect

probably benign
Transcript: ENSMUST00000076840
AA Change: D67G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915
AA Change: D67G

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

probably benign
Transcript: ENSMUST00000078839
AA Change: D67G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915
AA Change: D67G

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
1700028K03Rik	A	G	5: 107,695,983 (GRCm39)	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,460,991 (GRCm39)	Y289H	possibly damaging	Het
Adamts17	T	A	7: 66,774,748 (GRCm39)	S956T	probably benign	Het
Adamts6	A	T	13: 104,450,168 (GRCm39)	S290C	probably null	Het
Apaf1	A	T	10: 90,897,681 (GRCm39)	H267Q	probably benign	Het
Aplp2	G	A	9: 31,122,947 (GRCm39)	P26L	unknown	Het
Arid1b	C	T	17: 5,364,243 (GRCm39)	S1019F	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Ass1	T	C	2: 31,382,336 (GRCm39)	I169T	probably damaging	Het
Ccser1	A	G	6: 61,288,692 (GRCm39)	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,381,209 (GRCm39)	V2737A	probably benign	Het
Chrm5	A	G	2: 112,310,913 (GRCm39)	Y68H	probably damaging	Het
Cops4	A	G	5: 100,681,456 (GRCm39)	T164A	probably benign	Het
Cox4i1	A	G	8: 121,399,604 (GRCm39)	S72G	probably benign	Het
Cpox	A	G	16: 58,494,787 (GRCm39)	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,891,281 (GRCm39)	I68T	probably benign	Het
Enpp3	T	C	10: 24,649,900 (GRCm39)	E842G	probably damaging	Het
Fam210b	A	G	2: 172,193,423 (GRCm39)	K79E	probably benign	Het
Gm4799	T	C	10: 82,790,589 (GRCm39)		noncoding transcript	Het
Gpr146	A	T	5: 139,378,467 (GRCm39)	R90W	probably damaging	Het
H2ac10	A	G	13: 23,718,451 (GRCm39)	H124R	probably benign	Het
Hal	A	G	10: 93,339,404 (GRCm39)	I498V	possibly damaging	Het
Hnrnpm	C	T	17: 33,877,386 (GRCm39)	G365R	probably damaging	Het
Jakmip3	A	G	7: 138,627,217 (GRCm39)	D407G	probably damaging	Het
Kank1	A	G	19: 25,405,536 (GRCm39)	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 110,916,036 (GRCm39)	M233L	probably benign	Het
Klhl5	A	T	5: 65,306,143 (GRCm39)	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Las1l	A	G	X: 94,996,908 (GRCm39)	V130A	probably damaging	Het
Liat1	A	G	11: 75,894,051 (GRCm39)	I143V	probably benign	Het
Lrp2bp	A	T	8: 46,476,081 (GRCm39)	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,356,917 (GRCm39)	K285M	probably damaging	Het
Mpp3	A	T	11: 101,916,216 (GRCm39)	Y45*	probably null	Het
Muc4	T	A	16: 32,598,023 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,353,914 (GRCm39)	C837R	possibly damaging	Het
Nr2f6	T	A	8: 71,828,810 (GRCm39)	I155F	probably damaging	Het
Nsg1	A	G	5: 38,302,145 (GRCm39)	F50L	probably benign	Het
Or14a258	T	A	7: 86,035,251 (GRCm39)	M206L	probably benign	Het
Ostf1	C	A	19: 18,567,822 (GRCm39)	G101C	probably damaging	Het
Pam	C	T	1: 97,768,474 (GRCm39)	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 110,395,924 (GRCm39)	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,487,149 (GRCm39)	H484L	probably benign	Het
Pwwp3a	A	G	10: 80,075,812 (GRCm39)	D466G	probably damaging	Het
Rfx5	G	A	3: 94,864,493 (GRCm39)	R213Q	probably damaging	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,552,971 (GRCm39)	S73P	probably damaging	Het
Sec22c	G	A	9: 121,513,845 (GRCm39)	A264V	probably benign	Het
Sis	A	C	3: 72,796,319 (GRCm39)		probably benign	Het
Spam1	T	A	6: 24,800,802 (GRCm39)		probably benign	Het
Spmip2	T	C	3: 79,252,839 (GRCm39)	I18T	possibly damaging	Het
St13	T	A	15: 81,250,583 (GRCm39)	I318F	probably damaging	Het
Syne1	T	C	10: 5,374,382 (GRCm39)	I142V	probably damaging	Het
Tasor2	C	T	13: 3,635,371 (GRCm39)	E479K	probably benign	Het
Trpm6	A	T	19: 18,809,903 (GRCm39)	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,026,366 (GRCm39)	W90*	probably null	Het
Txndc12	T	A	4: 108,691,989 (GRCm39)	C9*	probably null	Het
Ubr7	C	T	12: 102,734,535 (GRCm39)	Q270*	probably null	Het
Vps33b	A	G	7: 79,934,817 (GRCm39)	S302G	probably benign	Het
Xylt1	T	A	7: 117,233,997 (GRCm39)	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,326,703 (GRCm39)	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,379,702 (GRCm39)		probably benign	Het
Zscan18	A	T	7: 12,509,223 (GRCm39)		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
IGL02142:Efna5	APN	17	62,914,340 (GRCm39)	missense	unknown
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