Incidental Mutation 'R4702:Epha7'
ID |
356104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha7
|
Ensembl Gene |
ENSMUSG00000028289 |
Gene Name |
Eph receptor A7 |
Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
MMRRC Submission |
041950-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.548)
|
Stock # |
R4702 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28961425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 890
(L890Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
AlphaFold |
Q61772 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029964
AA Change: L890Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029964 Gene: ENSMUSG00000028289 AA Change: L890Q
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 damaging
Transcript: ENSMUST00000108191
AA Change: L886Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103826 Gene: ENSMUSG00000028289 AA Change: L886Q
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,314,509 (GRCm39) |
T390A |
probably benign |
Het |
Adam25 |
G |
T |
8: 41,207,163 (GRCm39) |
C143F |
probably damaging |
Het |
Adra1a |
T |
C |
14: 66,875,008 (GRCm39) |
|
probably benign |
Het |
Aff1 |
T |
C |
5: 103,958,935 (GRCm39) |
Y343H |
probably damaging |
Het |
Antxr2 |
C |
T |
5: 98,097,028 (GRCm39) |
|
probably null |
Het |
Ap1m2 |
A |
G |
9: 21,209,591 (GRCm39) |
F362L |
probably benign |
Het |
Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
Armc3 |
A |
G |
2: 19,314,792 (GRCm39) |
N822S |
probably damaging |
Het |
Atr |
A |
C |
9: 95,802,408 (GRCm39) |
T1767P |
possibly damaging |
Het |
B4galnt1 |
G |
T |
10: 127,003,394 (GRCm39) |
V172F |
possibly damaging |
Het |
Bloc1s1 |
T |
A |
10: 128,759,267 (GRCm39) |
Q13L |
probably damaging |
Het |
Blvra |
A |
C |
2: 126,933,982 (GRCm39) |
I125L |
probably benign |
Het |
Caps2 |
T |
C |
10: 112,044,252 (GRCm39) |
F484L |
probably damaging |
Het |
Cep76 |
A |
T |
18: 67,767,968 (GRCm39) |
I188K |
possibly damaging |
Het |
Cidea |
T |
A |
18: 67,500,498 (GRCm39) |
F187I |
probably benign |
Het |
Cntn3 |
T |
A |
6: 102,142,292 (GRCm39) |
N1025I |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,926,676 (GRCm39) |
C565S |
probably benign |
Het |
Cyp2d22 |
A |
C |
15: 82,260,118 (GRCm39) |
L22R |
probably damaging |
Het |
Cyp2d26 |
C |
T |
15: 82,676,648 (GRCm39) |
|
probably benign |
Het |
Cyp2j12 |
A |
T |
4: 96,021,230 (GRCm39) |
|
probably null |
Het |
Dnajb13 |
T |
C |
7: 100,153,748 (GRCm39) |
N229S |
probably benign |
Het |
Dpys |
A |
G |
15: 39,656,798 (GRCm39) |
V423A |
possibly damaging |
Het |
Eif4e1b |
A |
T |
13: 54,935,138 (GRCm39) |
I222F |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,057,958 (GRCm39) |
N87Y |
unknown |
Het |
Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
Fancm |
T |
A |
12: 65,168,826 (GRCm39) |
S1730T |
possibly damaging |
Het |
Flrt3 |
A |
G |
2: 140,503,575 (GRCm39) |
F18L |
probably benign |
Het |
Git2 |
A |
G |
5: 114,883,543 (GRCm39) |
S396P |
probably damaging |
Het |
H2-M10.4 |
A |
G |
17: 36,772,874 (GRCm39) |
I36T |
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,894,947 (GRCm39) |
S1873L |
possibly damaging |
Het |
Ints12 |
A |
T |
3: 132,802,546 (GRCm39) |
D10V |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,288 (GRCm39) |
S483P |
probably benign |
Het |
Kcnv2 |
G |
C |
19: 27,300,967 (GRCm39) |
A273P |
probably damaging |
Het |
Klc3 |
T |
G |
7: 19,129,756 (GRCm39) |
D371A |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,711,086 (GRCm39) |
L1567* |
probably null |
Het |
Ldhal6b |
G |
T |
17: 5,468,582 (GRCm39) |
H117Q |
probably damaging |
Het |
Lrriq1 |
G |
T |
10: 103,051,610 (GRCm39) |
Q381K |
possibly damaging |
Het |
Mrps31 |
T |
A |
8: 22,909,754 (GRCm39) |
L140Q |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,774,834 (GRCm39) |
T2119A |
probably benign |
Het |
Nkx6-2 |
T |
C |
7: 139,161,456 (GRCm39) |
D243G |
probably damaging |
Het |
Or1ab2 |
T |
A |
8: 72,864,044 (GRCm39) |
F211L |
probably damaging |
Het |
Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
Papln |
C |
T |
12: 83,828,757 (GRCm39) |
T821I |
probably benign |
Het |
Pitpnb |
T |
G |
5: 111,519,218 (GRCm39) |
V166G |
probably benign |
Het |
Pla2g15 |
T |
A |
8: 106,889,691 (GRCm39) |
M321K |
probably benign |
Het |
Plcxd3 |
C |
A |
15: 4,405,269 (GRCm39) |
S25R |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,653,038 (GRCm39) |
I175V |
possibly damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,799,715 (GRCm39) |
Q687H |
probably benign |
Het |
Prpf3 |
A |
G |
3: 95,741,404 (GRCm39) |
V584A |
probably damaging |
Het |
Psen2 |
A |
G |
1: 180,055,289 (GRCm39) |
L399S |
probably damaging |
Het |
Ptchd3 |
G |
A |
11: 121,727,235 (GRCm39) |
V370I |
probably damaging |
Het |
Rasa3 |
G |
T |
8: 13,620,394 (GRCm39) |
D758E |
probably benign |
Het |
Reck |
T |
C |
4: 43,898,060 (GRCm39) |
C113R |
probably damaging |
Het |
Resf1 |
A |
G |
6: 149,230,901 (GRCm39) |
T1316A |
probably benign |
Het |
Ric1 |
T |
A |
19: 29,575,417 (GRCm39) |
F1009I |
possibly damaging |
Het |
Rrp12 |
T |
C |
19: 41,859,975 (GRCm39) |
N1035S |
probably damaging |
Het |
Rtel1 |
T |
A |
2: 180,993,962 (GRCm39) |
S849T |
probably benign |
Het |
Scn10a |
A |
T |
9: 119,462,857 (GRCm39) |
Y1060N |
possibly damaging |
Het |
Selenov |
A |
G |
7: 27,987,436 (GRCm39) |
L314P |
probably damaging |
Het |
Selplg |
T |
C |
5: 113,957,094 (GRCm39) |
D404G |
probably benign |
Het |
Slc7a14 |
T |
A |
3: 31,284,547 (GRCm39) |
Y263F |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,970,315 (GRCm39) |
S431P |
probably damaging |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Spopl |
A |
T |
2: 23,405,309 (GRCm39) |
|
probably null |
Het |
Stk10 |
A |
T |
11: 32,505,172 (GRCm39) |
T69S |
probably benign |
Het |
Tbxas1 |
T |
C |
6: 39,060,791 (GRCm39) |
|
probably null |
Het |
Tec |
G |
A |
5: 72,941,074 (GRCm39) |
P161L |
possibly damaging |
Het |
Tnip1 |
A |
G |
11: 54,815,228 (GRCm39) |
S339P |
probably benign |
Het |
Tsen34 |
T |
A |
7: 3,703,632 (GRCm39) |
V290D |
probably damaging |
Het |
Tuba1a |
T |
A |
15: 98,849,563 (GRCm39) |
I5F |
possibly damaging |
Het |
Vmn1r31 |
C |
A |
6: 58,448,953 (GRCm39) |
*304L |
probably null |
Het |
Vmn1r63 |
T |
C |
7: 5,806,516 (GRCm39) |
R39G |
possibly damaging |
Het |
Xylt2 |
A |
G |
11: 94,560,355 (GRCm39) |
Y307H |
possibly damaging |
Het |
Zfp65 |
A |
G |
13: 67,872,341 (GRCm39) |
M1T |
probably null |
Het |
Zmym4 |
T |
C |
4: 126,816,958 (GRCm39) |
I247V |
probably benign |
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 |
|
IGL02376:Epha7
|
APN |
4 |
28,951,287 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATTTTGCCTTCCAAGCAG -3'
(R):5'- GACATCTCATGTTCTCAGAAGTCC -3'
Sequencing Primer
(F):5'- TCATTGTAATTGAAGCTCAGTTGG -3'
(R):5'- TGTTCTCAGAAGTCCTAAGAAAAGAG -3'
|
Posted On |
2015-10-21 |