Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01084:Epha5'

51064

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 #

IGL01084

Quality Score

Status

Chromosome

Chromosomal Location

84202620-84565241 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 84218946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 917 (R917*)

Ref Sequence

ENSEMBL: ENSMUSP00000109033 (fasta)

Gene Model

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

AlphaFold

Q60629

Predicted Effect

probably null
Transcript: ENSMUST00000053733
AA Change: R776*

SMART Domains

Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: R776*

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 null
Transcript: ENSMUST00000113398
AA Change: R828*

SMART Domains

Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: R828*

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 null
Transcript: ENSMUST00000113399
AA Change: R940*

SMART Domains

Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: R940*

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 null
Transcript: ENSMUST00000113401
AA Change: R753*

SMART Domains

Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: R753*

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 null
Transcript: ENSMUST00000113403
AA Change: R940*

SMART Domains

Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: R940*

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 null
Transcript: ENSMUST00000113406
AA Change: R917*

SMART Domains

Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: R917*

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,546,901 (GRCm39)	Q284K	probably damaging	Het
Adgrd1	A	T	5: 129,216,656 (GRCm39)	N341I	probably benign	Het
Arhgap40	T	C	2: 158,385,138 (GRCm39)	F457S	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Catsper1	G	A	19: 5,387,800 (GRCm39)	V360M	probably damaging	Het
Cdc42bpa	T	A	1: 179,969,839 (GRCm39)		probably benign	Het
Cep250	C	T	2: 155,840,313 (GRCm39)	H2424Y	probably benign	Het
Cln3	T	C	7: 126,174,426 (GRCm39)	E304G	probably damaging	Het
Eml2	T	A	7: 18,924,663 (GRCm39)	C177*	probably null	Het
Gabra2	A	G	5: 71,163,576 (GRCm39)	F244L	probably damaging	Het
Gars1	C	A	6: 55,032,812 (GRCm39)	D261E	probably benign	Het
Gata3os	A	G	2: 9,887,884 (GRCm39)		probably benign	Het
Keg1	A	G	19: 12,691,976 (GRCm39)	K98E	probably damaging	Het
Kif13a	A	G	13: 46,904,110 (GRCm39)		probably benign	Het
Matn1	A	G	4: 130,679,245 (GRCm39)	K300E	probably benign	Het
Mesp1	A	G	7: 79,442,831 (GRCm39)	S149P	probably benign	Het
Mmp10	T	C	9: 7,505,651 (GRCm39)	V305A	possibly damaging	Het
Muc5b	T	C	7: 141,397,186 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,924,884 (GRCm39)	T1181A	probably damaging	Het
Or1r1	A	T	11: 73,875,353 (GRCm39)	L27Q	probably damaging	Het
Or5d35	T	C	2: 87,855,347 (GRCm39)	S94P	probably benign	Het
Or9i16	G	T	19: 13,864,866 (GRCm39)	T236N	probably damaging	Het
Osbpl11	T	C	16: 33,047,221 (GRCm39)		probably benign	Het
Prune2	T	C	19: 17,095,573 (GRCm39)	V359A	probably benign	Het
Ptch1	T	A	13: 63,691,451 (GRCm39)	E267D	probably damaging	Het
Rbl2	A	G	8: 91,848,941 (GRCm39)	E1049G	probably damaging	Het
Ruvbl2	A	T	7: 45,071,947 (GRCm39)		probably null	Het
Sec23b	A	G	2: 144,406,509 (GRCm39)	I101M	possibly damaging	Het
Srms	A	C	2: 180,848,177 (GRCm39)		probably null	Het
Svep1	T	A	4: 58,111,419 (GRCm39)	T1067S	possibly damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem127	T	C	2: 127,099,006 (GRCm39)	V180A	probably damaging	Het
Trpm7	A	G	2: 126,687,992 (GRCm39)		probably null	Het
Trpv3	G	A	11: 73,184,826 (GRCm39)		probably null	Het
Tti1	C	T	2: 157,824,379 (GRCm39)	V1025I	probably damaging	Het
Vmn2r80	A	G	10: 79,030,433 (GRCm39)	Y753C	probably damaging	Het
Vps13d	A	G	4: 144,881,525 (GRCm39)	L1350S	probably benign	Het
Zfp287	G	T	11: 62,604,716 (GRCm39)	Y730*	probably null	Het
Zfp583	A	G	7: 6,320,184 (GRCm39)	F276S	probably damaging	Het
Zfp638	T	C	6: 83,921,780 (GRCm39)	Y636H	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
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

2013-06-21