Incidental Mutation 'IGL01516:Epha5'
| ID |
90396 |
| 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)
|
| Stock # |
IGL01516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
84202620-84565241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84534135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 65
(L65F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053733]
[ENSMUST00000113398]
[ENSMUST00000113399]
[ENSMUST00000113401]
[ENSMUST00000113403]
[ENSMUST00000113406]
|
| AlphaFold |
Q60629 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053733
AA Change: L65F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: L65F
| 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 |
possibly damaging
Transcript: ENSMUST00000113398
AA Change: L65F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: L65F
| 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: L65F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: L65F
| 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 damaging
Transcript: ENSMUST00000113401
AA Change: L65F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: L65F
| 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: L65F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: L65F
| 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: L65F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: L65F
| 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: ENSMUST00000136775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152573
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,838,548 (GRCm39) |
S95P |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,109,043 (GRCm39) |
H709L |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,060,172 (GRCm39) |
Y455C |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,453,563 (GRCm39) |
T341I |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,611,830 (GRCm39) |
Y77* |
probably null |
Het |
| Cps1 |
C |
T |
1: 67,269,443 (GRCm39) |
R1481C |
probably damaging |
Het |
| Cspg5 |
A |
G |
9: 110,075,761 (GRCm39) |
K166E |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,616,584 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
A |
1: 68,367,404 (GRCm39) |
K438* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,076,432 (GRCm39) |
C1005S |
probably damaging |
Het |
| Hs3st5 |
C |
T |
10: 36,709,047 (GRCm39) |
T194I |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,816,108 (GRCm39) |
D45V |
probably benign |
Het |
| Il1rn |
C |
T |
2: 24,239,551 (GRCm39) |
T130I |
probably damaging |
Het |
| Klk1b22 |
G |
T |
7: 43,765,732 (GRCm39) |
C196F |
probably damaging |
Het |
| Lamp1 |
C |
T |
8: 13,223,863 (GRCm39) |
H332Y |
probably damaging |
Het |
| Limd2 |
T |
C |
11: 106,049,870 (GRCm39) |
T40A |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
T |
C |
6: 115,826,491 (GRCm39) |
T167A |
probably damaging |
Het |
| Mitf |
T |
A |
6: 97,987,351 (GRCm39) |
|
probably null |
Het |
| Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,132 (GRCm39) |
L201Q |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,760,266 (GRCm39) |
I261F |
probably damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,165 (GRCm39) |
I91F |
probably benign |
Het |
| Paics |
T |
A |
5: 77,104,578 (GRCm39) |
L68I |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,104,337 (GRCm39) |
V56A |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,852,428 (GRCm39) |
V102M |
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,681,448 (GRCm39) |
T62I |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,266,728 (GRCm39) |
E212V |
probably damaging |
Het |
| Rufy2 |
A |
C |
10: 62,847,212 (GRCm39) |
K539Q |
possibly damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
T |
C |
15: 99,610,094 (GRCm39) |
F442L |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,576 (GRCm39) |
V125A |
probably damaging |
Het |
| Tmem154 |
C |
T |
3: 84,591,897 (GRCm39) |
H120Y |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,823 (GRCm39) |
K1321E |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,383,459 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,668,234 (GRCm39) |
D168G |
possibly damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,857 (GRCm39) |
F137L |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,632 (GRCm39) |
T262S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,370 (GRCm39) |
V793A |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,038 (GRCm39) |
N300S |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,426,127 (GRCm39) |
|
probably null |
Het |
| Zfp784 |
G |
A |
7: 5,039,036 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
G |
T |
12: 79,334,625 (GRCm39) |
P131Q |
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 |
|
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 |
2013-12-09 |
Incidental Mutation