Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02744:Epha5'

306005

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 #

IGL02744

Quality Score

Status

Chromosome

Chromosomal Location

84202620-84565241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84255848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 458 (I458V)

Ref Sequence

ENSEMBL: ENSMUSP00000109028 (fasta)

Gene Model

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

AlphaFold

Q60629

Predicted Effect

probably benign
Transcript: ENSMUST00000053733
AA Change: I481V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: I481V

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 benign
Transcript: ENSMUST00000113398
AA Change: I533V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: I533V

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 benign
Transcript: ENSMUST00000113399
AA Change: I645V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: I645V

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: I458V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: I458V

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 benign
Transcript: ENSMUST00000113403
AA Change: I645V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: I645V

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 benign
Transcript: ENSMUST00000113406
AA Change: I622V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: I622V

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	A	G	3: 104,985,852 (GRCm39)	M89V	unknown	Het
Actl11	C	A	9: 107,807,061 (GRCm39)	H461Q	probably benign	Het
Aoc1l1	A	G	6: 48,952,249 (GRCm39)	E58G	probably benign	Het
Aox4	A	T	1: 58,294,711 (GRCm39)	R973S	possibly damaging	Het
Arhgef10	C	T	8: 14,980,198 (GRCm39)	A146V	probably benign	Het
Cep350	A	T	1: 155,807,279 (GRCm39)	S713T	probably damaging	Het
Galnt17	A	G	5: 131,140,613 (GRCm39)	I168T	probably damaging	Het
Gli3	T	C	13: 15,788,471 (GRCm39)		probably null	Het
Gm11110	T	A	17: 57,399,693 (GRCm39)		probably benign	Het
Gm8206	T	C	14: 6,022,488 (GRCm38)	I4V	possibly damaging	Het
Golga1	A	G	2: 38,908,486 (GRCm39)	S713P	probably damaging	Het
Ing5	T	C	1: 93,744,210 (GRCm39)	M172T	probably damaging	Het
Lyn	A	G	4: 3,738,808 (GRCm39)	T27A	probably benign	Het
Or2b28	A	G	13: 21,531,164 (GRCm39)	Y22C	probably damaging	Het
Pou5f1	T	C	17: 35,820,311 (GRCm39)	V40A	probably damaging	Het
Pramel13	A	T	4: 144,119,493 (GRCm39)	L358Q	probably damaging	Het
Prdm16	A	G	4: 154,429,910 (GRCm39)	L353P	probably damaging	Het
Psg18	T	A	7: 18,083,327 (GRCm39)	Q276L	probably benign	Het
Ralgapb	A	C	2: 158,288,071 (GRCm39)	Q369H	probably damaging	Het
Slc44a4	A	G	17: 35,146,776 (GRCm39)	N300D	probably damaging	Het
Slc6a15	A	T	10: 103,253,894 (GRCm39)	E610V	probably benign	Het
Slc8a2	T	C	7: 15,878,954 (GRCm39)	V480A	possibly damaging	Het
Speer1j	C	T	5: 11,555,340 (GRCm39)	T103I	possibly damaging	Het
Spg7	T	C	8: 123,820,400 (GRCm39)	F617S	probably damaging	Het
Srcap	A	G	7: 127,133,838 (GRCm39)	D863G	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Suox	T	C	10: 128,507,086 (GRCm39)	E314G	probably benign	Het
Tln2	T	A	9: 67,136,658 (GRCm39)	K1276*	probably null	Het
Tmem72	A	G	6: 116,672,451 (GRCm39)	L130P	probably damaging	Het
Ttll1	T	C	15: 83,373,778 (GRCm39)	Y345C	probably benign	Het
Ush2a	A	T	1: 188,090,914 (GRCm39)		probably null	Het
Xpo6	G	A	7: 125,707,620 (GRCm39)		probably benign	Het
Zc3h14	A	T	12: 98,751,234 (GRCm39)	Y512F	possibly damaging	Het
Zfp438	A	T	18: 5,214,760 (GRCm39)	M66K	probably benign	Het

Other mutations in Epha5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Epha5	APN	5	84,254,559 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16