Incidental Mutation 'IGL03381:Epha5'
| ID |
420701 |
| 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 # |
IGL03381
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
84202620-84565241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84479191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 271
(D271V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109025
(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: D271V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: D271V
| 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: D271V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: D271V
| 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 |
possibly damaging
Transcript: ENSMUST00000113399
AA Change: D271V
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: D271V
| 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 |
possibly damaging
Transcript: ENSMUST00000113401
AA Change: D271V
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: D271V
| 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 |
possibly damaging
Transcript: ENSMUST00000113403
AA Change: D271V
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: D271V
| 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 |
possibly damaging
Transcript: ENSMUST00000113406
AA Change: D271V
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: D271V
| 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: ENSMUST00000154804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155469
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
T |
C |
17: 47,200,812 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
T |
C |
7: 120,127,041 (GRCm39) |
F1243S |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,666,086 (GRCm39) |
V1990A |
probably damaging |
Het |
| Arhgdib |
G |
A |
6: 136,909,314 (GRCm39) |
T69I |
probably benign |
Het |
| Atf2 |
G |
A |
2: 73,659,012 (GRCm39) |
A214V |
probably benign |
Het |
| Ccr2 |
G |
A |
9: 123,906,409 (GRCm39) |
V230I |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,959,482 (GRCm39) |
E384G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
| Gzmf |
A |
T |
14: 56,444,450 (GRCm39) |
V41E |
probably benign |
Het |
| H2-T10 |
C |
T |
17: 36,430,246 (GRCm39) |
D232N |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,430,249 (GRCm39) |
K231* |
probably null |
Het |
| Hsd3b6 |
A |
G |
3: 98,715,128 (GRCm39) |
V88A |
possibly damaging |
Het |
| Kit |
C |
T |
5: 75,767,788 (GRCm39) |
T57M |
probably benign |
Het |
| Klhl22 |
A |
G |
16: 17,610,591 (GRCm39) |
D614G |
possibly damaging |
Het |
| Matr3 |
T |
A |
18: 35,712,078 (GRCm39) |
|
probably benign |
Het |
| Mff |
A |
G |
1: 82,719,661 (GRCm39) |
Y213C |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,417 (GRCm39) |
T194A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,537 (GRCm39) |
F431L |
probably damaging |
Het |
| Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,782,179 (GRCm39) |
V410A |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,001,523 (GRCm39) |
I11T |
possibly damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,044 (GRCm39) |
I187V |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,769 (GRCm39) |
V246D |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,343,625 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,404,022 (GRCm39) |
T2A |
probably benign |
Het |
| Rbm33 |
T |
C |
5: 28,599,390 (GRCm39) |
F921L |
unknown |
Het |
| Rhbdl2 |
T |
C |
4: 123,716,610 (GRCm39) |
V189A |
possibly damaging |
Het |
| Rpap2 |
C |
T |
5: 107,768,067 (GRCm39) |
P302S |
probably benign |
Het |
| Sec23ip |
T |
A |
7: 128,352,029 (GRCm39) |
V32D |
probably damaging |
Het |
| Sh3yl1 |
T |
C |
12: 30,976,836 (GRCm39) |
I47T |
possibly damaging |
Het |
| Spmip4 |
T |
C |
6: 50,566,116 (GRCm39) |
S120G |
probably damaging |
Het |
| Tenm2 |
A |
C |
11: 35,959,238 (GRCm39) |
S1104A |
probably benign |
Het |
| Ufd1 |
A |
G |
16: 18,644,507 (GRCm39) |
D190G |
probably damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,512 (GRCm39) |
F224L |
probably benign |
Het |
| Utp20 |
G |
T |
10: 88,657,867 (GRCm39) |
F64L |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,539,006 (GRCm39) |
Y164C |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,901,926 (GRCm39) |
V594D |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,344,570 (GRCm39) |
E2270D |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation