Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00808:Epha5'

10487

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epha5

Ensembl Gene

ENSMUSG00000029245

Gene Name

Eph receptor A5

Synonyms

Rek7, Cek7, Els1, Ehk1, Hek7, bsk

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00808

Quality Score

Status

Chromosome

Chromosomal Location

84202620-84565241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84254559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 519 (V519E)

Ref Sequence

ENSEMBL: ENSMUSP00000060646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053733] [ENSMUST00000113398] [ENSMUST00000113399] [ENSMUST00000113401] [ENSMUST00000113403] [ENSMUST00000113406]

AlphaFold

Q60629

Predicted Effect

probably damaging
Transcript: ENSMUST00000053733
AA Change: V519E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: V519E

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	307	387	1.92e-12	SMART
Pfam:EphA2_TM	413	511	2.1e-22	PFAM
TyrKc	514	771	9.33e-138	SMART
SAM	801	868	6.65e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113398
AA Change: V571E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: V571E

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	359	439	1.92e-12	SMART
Pfam:EphA2_TM	465	563	8.4e-23	PFAM
TyrKc	566	823	9.33e-138	SMART
Pfam:SAM_1	854	894	7.2e-11	PFAM
Pfam:SAM_2	856	894	1.6e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113399
AA Change: V683E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: V683E

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	360	450	1.53e-6	SMART
FN3	471	551	1.92e-12	SMART
Pfam:EphA2_TM	577	675	3.4e-22	PFAM
TyrKc	678	935	9.33e-138	SMART
Pfam:SAM_1	966	1006	2.9e-10	PFAM
Pfam:SAM_2	968	1006	5.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113401
AA Change: V496E

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: V496E

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	307	387	1.92e-12	SMART
Pfam:EphA2_TM	411	488	3.1e-30	PFAM
TyrKc	491	748	9.33e-138	SMART
Pfam:SAM_1	779	819	1.7e-10	PFAM
Pfam:SAM_2	781	819	3.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113403
AA Change: V683E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: V683E

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	360	450	1.53e-6	SMART
FN3	471	551	1.92e-12	SMART
Pfam:EphA2_TM	577	675	1.2e-25	PFAM
TyrKc	678	935	9.33e-138	SMART
SAM	965	1032	6.65e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113406
AA Change: V660E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: V660E

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	360	450	1.53e-6	SMART
FN3	471	551	1.92e-12	SMART
Pfam:EphA2_TM	575	652	1.9e-30	PFAM
TyrKc	655	912	9.33e-138	SMART
SAM	942	1009	6.65e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154804

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 belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous mutant mice are overtly normal but show abnormal retinal axon mapping. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	A	G	7: 28,314,377 (GRCm39)	I297T	probably damaging	Het
Agtpbp1	T	C	13: 59,609,908 (GRCm39)	E131G	possibly damaging	Het
Ankrd12	A	G	17: 66,290,960 (GRCm39)	L1491S	probably benign	Het
Arid4b	T	C	13: 14,310,846 (GRCm39)		probably null	Het
Aspm	T	A	1: 139,389,214 (GRCm39)	S626T	probably benign	Het
Catsperg1	A	G	7: 28,897,571 (GRCm39)	S238P	probably damaging	Het
Clns1a	A	G	7: 97,365,721 (GRCm39)	H241R	probably damaging	Het
Cryzl2	T	C	1: 157,298,246 (GRCm39)	F212L	probably benign	Het
Kcnq3	T	C	15: 65,867,603 (GRCm39)	D680G	possibly damaging	Het
Kras	T	C	6: 145,192,474 (GRCm39)	T20A	probably damaging	Het
Myh13	T	C	11: 67,225,830 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,616,121 (GRCm39)		probably benign	Het
Pde8a	G	A	7: 80,932,762 (GRCm39)		probably null	Het
Rasgef1a	A	T	6: 118,065,164 (GRCm39)	K384M	probably damaging	Het
Selenov	A	G	7: 27,989,851 (GRCm39)	S218P	probably damaging	Het
Tg	T	A	15: 66,555,662 (GRCm39)	Y785N	probably damaging	Het
Ttll13	G	T	7: 79,909,297 (GRCm39)	A661S	possibly damaging	Het

Other mutations in Epha5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Epha5	APN	5	84,218,946 (GRCm39)	nonsense	probably null
IGL01462:Epha5	APN	5	84,219,092 (GRCm39)	missense	probably damaging	1.00
IGL01516:Epha5	APN	5	84,534,135 (GRCm39)	missense	probably damaging	1.00
IGL01998:Epha5	APN	5	84,232,593 (GRCm39)	missense	probably damaging	1.00
IGL02744:Epha5	APN	5	84,255,848 (GRCm39)	missense	probably benign	0.22
IGL03076:Epha5	APN	5	84,479,549 (GRCm39)	missense	probably damaging	1.00
IGL03123:Epha5	APN	5	84,479,085 (GRCm39)	critical splice donor site	probably null
IGL03381:Epha5	APN	5	84,479,191 (GRCm39)	missense	probably damaging	0.98
BB001:Epha5	UTSW	5	84,232,705 (GRCm39)	missense	possibly damaging	0.71
BB011:Epha5	UTSW	5	84,232,705 (GRCm39)	missense	possibly damaging	0.71
PIT4544001:Epha5	UTSW	5	84,479,471 (GRCm39)	missense	possibly damaging	0.71
R0004:Epha5	UTSW	5	84,479,701 (GRCm39)	missense	probably damaging	1.00
R0490:Epha5	UTSW	5	84,255,833 (GRCm39)	splice site	probably benign
R0545:Epha5	UTSW	5	84,215,217 (GRCm39)	critical splice donor site	probably null
R0835:Epha5	UTSW	5	84,534,101 (GRCm39)	missense	probably damaging	1.00
R1074:Epha5	UTSW	5	84,298,255 (GRCm39)	missense	probably damaging	0.99
R1074:Epha5	UTSW	5	84,298,254 (GRCm39)	missense	probably damaging	0.99
R1075:Epha5	UTSW	5	84,298,255 (GRCm39)	missense	probably damaging	0.99
R1075:Epha5	UTSW	5	84,298,254 (GRCm39)	missense	probably damaging	0.99
R1102:Epha5	UTSW	5	84,381,434 (GRCm39)	splice site	probably benign
R1184:Epha5	UTSW	5	84,219,134 (GRCm39)	splice site	probably null
R1255:Epha5	UTSW	5	84,298,255 (GRCm39)	missense	probably damaging	0.99
R1255:Epha5	UTSW	5	84,298,254 (GRCm39)	missense	probably damaging	0.99
R1327:Epha5	UTSW	5	84,254,644 (GRCm39)	missense	probably damaging	1.00
R1437:Epha5	UTSW	5	84,381,555 (GRCm39)	missense	probably damaging	1.00
R1804:Epha5	UTSW	5	84,479,674 (GRCm39)	missense	probably benign	0.21
R1967:Epha5	UTSW	5	84,564,288 (GRCm39)	missense	probably benign	0.23
R2187:Epha5	UTSW	5	84,234,223 (GRCm39)	missense	probably damaging	1.00
R2282:Epha5	UTSW	5	84,298,269 (GRCm39)	missense	probably damaging	1.00
R2899:Epha5	UTSW	5	84,381,667 (GRCm39)	missense	probably damaging	0.99
R3746:Epha5	UTSW	5	84,206,963 (GRCm39)	missense	probably damaging	1.00
R4454:Epha5	UTSW	5	84,304,303 (GRCm39)	missense	probably damaging	1.00
R4771:Epha5	UTSW	5	84,298,278 (GRCm39)	missense	probably damaging	0.99
R4809:Epha5	UTSW	5	84,253,750 (GRCm39)	missense	possibly damaging	0.88
R4810:Epha5	UTSW	5	84,253,750 (GRCm39)	missense	possibly damaging	0.88
R4825:Epha5	UTSW	5	84,381,699 (GRCm39)	missense	probably damaging	0.97
R4833:Epha5	UTSW	5	84,253,750 (GRCm39)	missense	possibly damaging	0.88
R4961:Epha5	UTSW	5	84,381,502 (GRCm39)	missense	probably damaging	1.00
R4976:Epha5	UTSW	5	84,232,683 (GRCm39)	missense	probably damaging	1.00
R4981:Epha5	UTSW	5	84,298,342 (GRCm39)	missense	probably damaging	1.00
R5149:Epha5	UTSW	5	84,298,217 (GRCm39)	missense	probably damaging	1.00
R5422:Epha5	UTSW	5	84,479,349 (GRCm39)	missense	probably damaging	1.00
R5575:Epha5	UTSW	5	84,564,361 (GRCm39)	missense	probably damaging	0.97
R5664:Epha5	UTSW	5	84,479,725 (GRCm39)	missense	probably damaging	1.00
R5801:Epha5	UTSW	5	84,479,085 (GRCm39)	critical splice donor site	probably null
R5821:Epha5	UTSW	5	84,232,587 (GRCm39)	missense	probably damaging	1.00
R5924:Epha5	UTSW	5	84,381,533 (GRCm39)	nonsense	probably null
R5951:Epha5	UTSW	5	84,479,051 (GRCm39)	intron	probably benign
R5956:Epha5	UTSW	5	84,298,228 (GRCm39)	missense	probably damaging	0.99
R6127:Epha5	UTSW	5	84,218,953 (GRCm39)	missense	probably damaging	1.00
R6189:Epha5	UTSW	5	84,385,399 (GRCm39)	missense	probably damaging	1.00
R6240:Epha5	UTSW	5	84,265,438 (GRCm39)	missense	probably benign	0.27
R6343:Epha5	UTSW	5	84,254,606 (GRCm39)	missense	probably damaging	1.00
R6463:Epha5	UTSW	5	84,254,569 (GRCm39)	missense	probably damaging	1.00
R6517:Epha5	UTSW	5	84,304,360 (GRCm39)	missense	possibly damaging	0.63
R6622:Epha5	UTSW	5	84,385,387 (GRCm39)	missense	possibly damaging	0.79
R6667:Epha5	UTSW	5	84,219,050 (GRCm39)	missense	probably damaging	1.00
R6741:Epha5	UTSW	5	84,254,557 (GRCm39)	missense	possibly damaging	0.69
R6757:Epha5	UTSW	5	84,253,737 (GRCm39)	missense	probably damaging	1.00
R6762:Epha5	UTSW	5	84,479,585 (GRCm39)	missense	probably damaging	1.00
R6819:Epha5	UTSW	5	84,254,649 (GRCm39)	missense	probably damaging	1.00
R7019:Epha5	UTSW	5	84,564,321 (GRCm39)	missense	possibly damaging	0.68
R7031:Epha5	UTSW	5	84,290,159 (GRCm39)	missense	probably benign	0.12
R7213:Epha5	UTSW	5	84,381,782 (GRCm39)	splice site	probably null
R7728:Epha5	UTSW	5	84,215,267 (GRCm39)	missense	possibly damaging	0.95
R7924:Epha5	UTSW	5	84,232,705 (GRCm39)	missense	possibly damaging	0.71
R7953:Epha5	UTSW	5	84,381,513 (GRCm39)	missense	probably benign	0.19
R8043:Epha5	UTSW	5	84,381,513 (GRCm39)	missense	probably benign	0.19
R8468:Epha5	UTSW	5	84,290,275 (GRCm39)	splice site	probably null
R8558:Epha5	UTSW	5	84,206,975 (GRCm39)	missense	probably damaging	1.00
R8796:Epha5	UTSW	5	84,255,850 (GRCm39)	missense	probably damaging	0.97
R9035:Epha5	UTSW	5	84,255,886 (GRCm39)	missense	probably damaging	1.00
R9060:Epha5	UTSW	5	84,218,977 (GRCm39)	missense	probably benign	0.01
R9244:Epha5	UTSW	5	84,265,441 (GRCm39)	missense	probably benign	0.28
R9347:Epha5	UTSW	5	84,479,731 (GRCm39)	missense	possibly damaging	0.51
R9355:Epha5	UTSW	5	84,253,890 (GRCm39)	missense	probably damaging	1.00
R9434:Epha5	UTSW	5	84,479,227 (GRCm39)	missense	possibly damaging	0.72
Z1088:Epha5	UTSW	5	84,385,381 (GRCm39)	missense	probably benign	0.01
Z1176:Epha5	UTSW	5	84,218,979 (GRCm39)	missense	possibly damaging	0.90

Posted On

2012-12-06