Incidental Mutation 'R6038:Epha7'
| ID |
486663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha7
|
| Ensembl Gene |
ENSMUSG00000028289 |
| Gene Name |
Eph receptor A7 |
| Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
| MMRRC Submission |
044208-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R6038 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28821521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 229
(E229K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000080934]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
| AlphaFold |
Q61772 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029964
AA Change: E229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: E229K
| 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: ENSMUST00000080934
AA Change: E229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: E229K
| 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 |
possibly damaging
Transcript: ENSMUST00000108191
AA Change: E229K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: E229K
| 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 damaging
Transcript: ENSMUST00000108194
AA Change: E229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: E229K
| 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: ENSMUST00000136827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149030
|
| Meta Mutation Damage Score |
0.1265 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,615,286 (GRCm39) |
C1327R |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,049,608 (GRCm39) |
T704A |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,156,487 (GRCm39) |
Y414* |
probably null |
Het |
| Adgrf1 |
T |
C |
17: 43,606,100 (GRCm39) |
S75P |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,643,956 (GRCm39) |
M1T |
probably null |
Het |
| Antxr1 |
C |
A |
6: 87,263,982 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
T |
17: 5,386,957 (GRCm39) |
Y1470F |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,465,308 (GRCm39) |
D649G |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,575,200 (GRCm39) |
V615A |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,075,462 (GRCm39) |
R880Q |
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,013,140 (GRCm39) |
T971A |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,497,414 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
G |
A |
13: 113,455,153 (GRCm39) |
V400M |
possibly damaging |
Het |
| Defb19 |
T |
G |
2: 152,418,187 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,946,715 (GRCm39) |
D3045G |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,783,350 (GRCm39) |
|
probably null |
Het |
| Egln3 |
A |
G |
12: 54,228,476 (GRCm39) |
V210A |
probably damaging |
Het |
| Epb41l4a |
T |
C |
18: 33,987,388 (GRCm39) |
S330G |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Garin4 |
C |
T |
1: 190,894,919 (GRCm39) |
E575K |
probably damaging |
Het |
| Garin5a |
C |
T |
7: 44,149,719 (GRCm39) |
R147W |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,756,594 (GRCm39) |
|
probably null |
Het |
| Gm29587 |
G |
A |
12: 74,269,309 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
T |
A |
6: 100,781,555 (GRCm39) |
L410Q |
probably damaging |
Het |
| H2-M10.3 |
C |
A |
17: 36,679,287 (GRCm39) |
C6F |
probably benign |
Het |
| Hecw1 |
G |
T |
13: 14,520,647 (GRCm39) |
Q197K |
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,154,373 (GRCm39) |
M778V |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,325,663 (GRCm39) |
T4691A |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,932,431 (GRCm39) |
E204G |
possibly damaging |
Het |
| Lrp12 |
A |
C |
15: 39,735,776 (GRCm39) |
W738G |
probably damaging |
Het |
| Mdga2 |
A |
T |
12: 66,676,827 (GRCm39) |
D488E |
probably damaging |
Het |
| Mrc1 |
G |
C |
2: 14,261,882 (GRCm39) |
W290C |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,027,824 (GRCm39) |
S679T |
probably benign |
Het |
| Nhp2 |
T |
C |
11: 51,510,912 (GRCm39) |
V55A |
probably benign |
Het |
| Nrm |
T |
C |
17: 36,172,397 (GRCm39) |
S41P |
possibly damaging |
Het |
| Or10ag54 |
T |
A |
2: 87,099,611 (GRCm39) |
I141N |
possibly damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,677 (GRCm39) |
L254P |
probably damaging |
Het |
| Or7e165 |
A |
G |
9: 19,694,858 (GRCm39) |
Y143C |
probably benign |
Het |
| Osbpl7 |
C |
T |
11: 96,941,542 (GRCm39) |
P22S |
probably benign |
Het |
| Pebp1 |
A |
T |
5: 117,422,170 (GRCm39) |
L124Q |
probably benign |
Het |
| Pfkp |
G |
T |
13: 6,648,005 (GRCm39) |
H524N |
probably benign |
Het |
| Pnmt |
G |
A |
11: 98,278,594 (GRCm39) |
D187N |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,920,445 (GRCm39) |
I355K |
possibly damaging |
Het |
| Prom1 |
A |
T |
5: 44,159,135 (GRCm39) |
Y836N |
probably damaging |
Het |
| Rubcnl |
T |
C |
14: 75,269,410 (GRCm39) |
S23P |
probably benign |
Het |
| Sap130 |
T |
A |
18: 31,813,539 (GRCm39) |
I532N |
probably damaging |
Het |
| Serpina1e |
A |
T |
12: 103,913,095 (GRCm39) |
|
probably null |
Het |
| Slc12a3 |
T |
G |
8: 95,057,100 (GRCm39) |
S124R |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,927,651 (GRCm39) |
T317A |
probably benign |
Het |
| Smarcad1 |
T |
C |
6: 65,050,232 (GRCm39) |
S284P |
possibly damaging |
Het |
| Spag9 |
C |
G |
11: 94,002,918 (GRCm39) |
R724G |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,395,103 (GRCm39) |
|
probably null |
Het |
| Steap3 |
A |
G |
1: 120,169,371 (GRCm39) |
Y271H |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,925,158 (GRCm39) |
Q44* |
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,444 (GRCm39) |
C195S |
possibly damaging |
Het |
| Tcl1b4 |
T |
C |
12: 105,168,766 (GRCm39) |
M10T |
possibly damaging |
Het |
| Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
| Vmn2r60 |
C |
A |
7: 41,844,386 (GRCm39) |
A583D |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,501,037 (GRCm39) |
Q455R |
possibly damaging |
Het |
| Wdr17 |
A |
G |
8: 55,085,346 (GRCm39) |
|
probably null |
Het |
| Xbp1 |
T |
C |
11: 5,474,798 (GRCm39) |
L233P |
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,191,752 (GRCm39) |
E288G |
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 |
|
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 |
|
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'- GCTGCAGATGAAAGTTTCACAC -3'
(R):5'- TGCGTACCATCAGTGAGGATAC -3'
Sequencing Primer
(F):5'- CACTGAGGTGAGAGAGATTGGACC -3'
(R):5'- CCATCAGTGAGGATACAACTATAGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation