Incidental Mutation 'IGL02376:Epha7'
ID |
291106 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Epha7
|
Ensembl Gene |
ENSMUSG00000028289 |
Gene Name |
Eph receptor A7 |
Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.548)
|
Stock # |
IGL02376
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 28951287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 799
(T799P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000080934]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
AlphaFold |
Q61772 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029964
AA Change: T803P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029964 Gene: ENSMUSG00000028289 AA Change: T803P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
EPH_lbd
|
32 |
205 |
3.24e-126 |
SMART |
FN3
|
332 |
422 |
2.39e-8 |
SMART |
FN3
|
443 |
524 |
3.12e-12 |
SMART |
Pfam:EphA2_TM
|
557 |
630 |
4.4e-25 |
PFAM |
TyrKc
|
633 |
890 |
8.84e-139 |
SMART |
SAM
|
920 |
987 |
1.26e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080934
|
SMART Domains |
Protein: ENSMUSP00000079735 Gene: ENSMUSG00000028289
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
EPH_lbd
|
32 |
205 |
3.24e-126 |
SMART |
FN3
|
332 |
422 |
2.39e-8 |
SMART |
FN3
|
443 |
524 |
3.12e-12 |
SMART |
transmembrane domain
|
556 |
578 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108191
AA Change: T799P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103826 Gene: ENSMUSG00000028289 AA Change: T799P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
EPH_lbd
|
32 |
205 |
3.24e-126 |
SMART |
FN3
|
332 |
422 |
2.39e-8 |
SMART |
FN3
|
443 |
524 |
3.12e-12 |
SMART |
Pfam:EphA2_TM
|
556 |
626 |
2.9e-23 |
PFAM |
TyrKc
|
629 |
886 |
8.84e-139 |
SMART |
SAM
|
916 |
983 |
1.26e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108194
|
SMART Domains |
Protein: ENSMUSP00000103829 Gene: ENSMUSG00000028289
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
EPH_lbd
|
32 |
205 |
3.24e-126 |
SMART |
FN3
|
332 |
422 |
2.39e-8 |
SMART |
FN3
|
443 |
524 |
3.12e-12 |
SMART |
transmembrane domain
|
556 |
578 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129912
|
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. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] PHENOTYPE: Some homozygous mutants display anencephaly. Mutants also exhibit increased proliferation of neural progenitor cells in the lateral ventricle wall of the adult brain. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
G |
6: 88,815,466 (GRCm39) |
|
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,251,031 (GRCm39) |
E597K |
possibly damaging |
Het |
Adcy9 |
A |
G |
16: 4,236,544 (GRCm39) |
V289A |
probably benign |
Het |
Akr1d1 |
A |
T |
6: 37,507,220 (GRCm39) |
D14V |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,349,524 (GRCm39) |
|
probably benign |
Het |
Arap3 |
T |
C |
18: 38,111,506 (GRCm39) |
T1137A |
possibly damaging |
Het |
Arhgef4 |
A |
T |
1: 34,845,140 (GRCm39) |
Q77L |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,867,735 (GRCm39) |
T444A |
probably damaging |
Het |
Arr3 |
A |
C |
X: 99,658,281 (GRCm39) |
K281Q |
probably damaging |
Het |
Arrdc2 |
A |
T |
8: 71,291,623 (GRCm39) |
I114N |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,611,727 (GRCm39) |
F1217Y |
probably damaging |
Het |
C1qtnf1 |
A |
C |
11: 118,338,894 (GRCm39) |
Y188S |
probably benign |
Het |
Cbx6 |
C |
A |
15: 79,712,500 (GRCm39) |
R309L |
probably benign |
Het |
Cfap410 |
A |
G |
10: 77,820,388 (GRCm39) |
|
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,128,502 (GRCm39) |
S237P |
probably damaging |
Het |
Dapk1 |
G |
A |
13: 60,844,208 (GRCm39) |
V76I |
probably benign |
Het |
Elk4 |
T |
A |
1: 131,942,288 (GRCm39) |
N53K |
probably benign |
Het |
Exosc2 |
G |
A |
2: 31,569,887 (GRCm39) |
V233M |
possibly damaging |
Het |
Fam217b |
A |
G |
2: 178,059,366 (GRCm39) |
D3G |
probably benign |
Het |
Farp1 |
T |
A |
14: 121,510,268 (GRCm39) |
N755K |
probably damaging |
Het |
Fer |
A |
G |
17: 64,241,341 (GRCm39) |
E327G |
possibly damaging |
Het |
Fmnl3 |
A |
T |
15: 99,216,844 (GRCm39) |
F1017Y |
possibly damaging |
Het |
Gabbr2 |
A |
C |
4: 46,684,300 (GRCm39) |
I658S |
probably damaging |
Het |
Gemin2 |
A |
G |
12: 59,068,506 (GRCm39) |
D195G |
probably benign |
Het |
Gtf3c1 |
T |
A |
7: 125,268,168 (GRCm39) |
Y875F |
probably benign |
Het |
Hnrnpr |
G |
A |
4: 136,046,766 (GRCm39) |
G149D |
probably damaging |
Het |
Krt74 |
A |
C |
15: 101,662,938 (GRCm39) |
|
noncoding transcript |
Het |
Ltf |
A |
G |
9: 110,858,692 (GRCm39) |
D480G |
probably benign |
Het |
Map1b |
A |
G |
13: 99,572,103 (GRCm39) |
L206P |
probably damaging |
Het |
Meis1 |
T |
C |
11: 18,831,752 (GRCm39) |
M429V |
probably benign |
Het |
Myh4 |
C |
A |
11: 67,136,554 (GRCm39) |
T444N |
probably benign |
Het |
Nckap1l |
A |
T |
15: 103,379,658 (GRCm39) |
Y315F |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,350,447 (GRCm39) |
I646T |
probably damaging |
Het |
Ndufv1 |
T |
C |
19: 4,057,823 (GRCm39) |
|
probably null |
Het |
Ogdhl |
T |
C |
14: 32,065,275 (GRCm39) |
Y710H |
probably damaging |
Het |
Or4c52 |
A |
G |
2: 89,845,804 (GRCm39) |
I177V |
probably benign |
Het |
Otud7b |
A |
G |
3: 96,062,354 (GRCm39) |
K531R |
possibly damaging |
Het |
Pax3 |
T |
C |
1: 78,108,929 (GRCm39) |
Y243C |
probably damaging |
Het |
Pde1a |
A |
G |
2: 79,705,567 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
C |
T |
9: 98,934,405 (GRCm39) |
M813I |
probably benign |
Het |
Prss42 |
A |
T |
9: 110,632,175 (GRCm39) |
D302V |
possibly damaging |
Het |
Rad52 |
T |
C |
6: 119,892,191 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
T |
5: 22,285,789 (GRCm39) |
Y393* |
probably null |
Het |
Rhbdd3 |
T |
C |
11: 5,053,192 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
C |
T |
7: 110,062,163 (GRCm39) |
G138D |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,870,060 (GRCm39) |
|
probably null |
Het |
Smg9 |
A |
G |
7: 24,114,455 (GRCm39) |
I265V |
probably benign |
Het |
Sppl2b |
G |
T |
10: 80,703,432 (GRCm39) |
E565* |
probably null |
Het |
Stx6 |
T |
A |
1: 155,077,725 (GRCm39) |
V244D |
probably benign |
Het |
Tle4 |
T |
C |
19: 14,571,768 (GRCm39) |
N78D |
probably damaging |
Het |
Tmcc3 |
A |
G |
10: 94,414,429 (GRCm39) |
I44V |
possibly damaging |
Het |
Tnnt3 |
C |
T |
7: 142,066,295 (GRCm39) |
T220I |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,557,811 (GRCm39) |
D29798E |
possibly damaging |
Het |
Vtcn1 |
A |
T |
3: 100,799,981 (GRCm39) |
M281L |
probably benign |
Het |
Zfp595 |
T |
C |
13: 67,464,514 (GRCm39) |
K586R |
possibly damaging |
Het |
Zfta |
C |
T |
19: 7,399,741 (GRCm39) |
P496L |
probably damaging |
Het |
|
Other mutations in Epha7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00811:Epha7
|
APN |
4 |
28,961,285 (GRCm39) |
intron |
probably benign |
|
IGL00849:Epha7
|
APN |
4 |
28,870,662 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL00898:Epha7
|
APN |
4 |
28,938,693 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02036:Epha7
|
APN |
4 |
28,950,509 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02227:Epha7
|
APN |
4 |
28,821,587 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02237:Epha7
|
APN |
4 |
28,949,325 (GRCm39) |
splice site |
probably null |
|
IGL02424:Epha7
|
APN |
4 |
28,948,790 (GRCm39) |
intron |
probably benign |
|
IGL02519:Epha7
|
APN |
4 |
28,821,494 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02522:Epha7
|
APN |
4 |
28,821,494 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02524:Epha7
|
APN |
4 |
28,821,494 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02602:Epha7
|
APN |
4 |
28,871,877 (GRCm39) |
missense |
possibly damaging |
0.88 |
Pump
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
PIT4514001:Epha7
|
UTSW |
4 |
28,961,355 (GRCm39) |
nonsense |
probably null |
|
R0001:Epha7
|
UTSW |
4 |
28,961,279 (GRCm39) |
intron |
probably benign |
|
R0011:Epha7
|
UTSW |
4 |
28,962,564 (GRCm39) |
missense |
probably benign |
0.03 |
R0011:Epha7
|
UTSW |
4 |
28,962,564 (GRCm39) |
missense |
probably benign |
0.03 |
R0310:Epha7
|
UTSW |
4 |
28,961,301 (GRCm39) |
missense |
probably benign |
0.33 |
R0373:Epha7
|
UTSW |
4 |
28,935,700 (GRCm39) |
splice site |
probably null |
|
R0496:Epha7
|
UTSW |
4 |
28,821,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R0554:Epha7
|
UTSW |
4 |
28,951,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R0632:Epha7
|
UTSW |
4 |
28,821,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R1677:Epha7
|
UTSW |
4 |
28,947,571 (GRCm39) |
nonsense |
probably null |
|
R1883:Epha7
|
UTSW |
4 |
28,950,362 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1919:Epha7
|
UTSW |
4 |
28,963,969 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1952:Epha7
|
UTSW |
4 |
28,950,474 (GRCm39) |
missense |
probably damaging |
0.97 |
R1999:Epha7
|
UTSW |
4 |
28,938,686 (GRCm39) |
nonsense |
probably null |
|
R2187:Epha7
|
UTSW |
4 |
28,942,648 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2308:Epha7
|
UTSW |
4 |
28,821,503 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2417:Epha7
|
UTSW |
4 |
28,947,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R3911:Epha7
|
UTSW |
4 |
28,938,680 (GRCm39) |
missense |
probably benign |
0.01 |
R4350:Epha7
|
UTSW |
4 |
28,950,393 (GRCm39) |
missense |
probably damaging |
0.98 |
R4688:Epha7
|
UTSW |
4 |
28,821,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R4702:Epha7
|
UTSW |
4 |
28,961,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R4957:Epha7
|
UTSW |
4 |
28,871,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R5364:Epha7
|
UTSW |
4 |
28,950,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R5661:Epha7
|
UTSW |
4 |
28,946,217 (GRCm39) |
splice site |
probably null |
|
R5820:Epha7
|
UTSW |
4 |
28,949,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Epha7
|
UTSW |
4 |
28,821,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Epha7
|
UTSW |
4 |
28,821,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R6592:Epha7
|
UTSW |
4 |
28,813,482 (GRCm39) |
critical splice donor site |
probably null |
|
R6783:Epha7
|
UTSW |
4 |
28,950,528 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6991:Epha7
|
UTSW |
4 |
28,821,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R7152:Epha7
|
UTSW |
4 |
28,935,826 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7232:Epha7
|
UTSW |
4 |
28,951,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R7261:Epha7
|
UTSW |
4 |
28,813,418 (GRCm39) |
missense |
probably benign |
0.04 |
R7365:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R7367:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R7368:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R7413:Epha7
|
UTSW |
4 |
28,871,838 (GRCm39) |
missense |
probably benign |
0.00 |
R7603:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R7604:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R7605:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R7607:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R7608:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R7609:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R7610:Epha7
|
UTSW |
4 |
28,871,937 (GRCm39) |
missense |
probably benign |
0.07 |
R8073:Epha7
|
UTSW |
4 |
28,821,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R8263:Epha7
|
UTSW |
4 |
28,821,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Epha7
|
UTSW |
4 |
28,938,777 (GRCm39) |
missense |
probably benign |
0.26 |
R8866:Epha7
|
UTSW |
4 |
28,821,614 (GRCm39) |
missense |
probably benign |
0.04 |
R8906:Epha7
|
UTSW |
4 |
28,821,615 (GRCm39) |
missense |
probably damaging |
0.98 |
R8914:Epha7
|
UTSW |
4 |
28,963,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R9335:Epha7
|
UTSW |
4 |
28,966,529 (GRCm39) |
missense |
probably benign |
0.15 |
R9355:Epha7
|
UTSW |
4 |
28,935,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R9576:Epha7
|
UTSW |
4 |
28,870,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R9796:Epha7
|
UTSW |
4 |
28,817,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |