Incidental Mutation 'R0001:Epha7'
| ID |
32227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha7
|
| Ensembl Gene |
ENSMUSG00000028289 |
| Gene Name |
Eph receptor A7 |
| Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
| MMRRC Submission |
038297-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R0001 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 28961279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
| AlphaFold |
Q61772 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029964
|
| SMART Domains |
Protein: ENSMUSP00000029964
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 |
|
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: ENSMUST00000108191
|
| SMART Domains |
Protein: ENSMUSP00000103826
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 |
|
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: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
99% (76/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,288,534 (GRCm39) |
|
probably benign |
Het |
| A4galt |
A |
G |
15: 83,112,490 (GRCm39) |
F98L |
probably benign |
Het |
| Abca4 |
T |
G |
3: 121,874,660 (GRCm39) |
|
probably benign |
Het |
| Acacb |
C |
T |
5: 114,342,894 (GRCm39) |
|
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,069,611 (GRCm39) |
H367L |
probably damaging |
Het |
| Apoa4 |
C |
A |
9: 46,154,190 (GRCm39) |
Q264K |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,210,626 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
C |
A |
2: 120,554,232 (GRCm39) |
R939L |
probably benign |
Het |
| Ceacam18 |
G |
A |
7: 43,286,300 (GRCm39) |
V58I |
possibly damaging |
Het |
| Ciita |
A |
T |
16: 10,332,297 (GRCm39) |
|
probably benign |
Het |
| Clk4 |
T |
A |
11: 51,159,592 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,507,105 (GRCm39) |
D215G |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,280,586 (GRCm39) |
S1218P |
probably benign |
Het |
| Col20a1 |
T |
C |
2: 180,626,205 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
A |
G |
14: 63,373,071 (GRCm39) |
E76G |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,205,659 (GRCm39) |
C161R |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,101,090 (GRCm39) |
L1211P |
probably damaging |
Het |
| Dhx9 |
G |
T |
1: 153,338,382 (GRCm39) |
T759K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,021,964 (GRCm39) |
|
probably benign |
Het |
| Dpysl3 |
C |
T |
18: 43,491,440 (GRCm39) |
E226K |
possibly damaging |
Het |
| Eif2d |
A |
T |
1: 131,095,864 (GRCm39) |
K453* |
probably null |
Het |
| Fat3 |
T |
C |
9: 16,289,169 (GRCm39) |
D118G |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,188 (GRCm39) |
H477Q |
probably benign |
Het |
| Foxn4 |
T |
A |
5: 114,398,931 (GRCm39) |
Q159L |
probably damaging |
Het |
| Frs2 |
G |
T |
10: 116,910,781 (GRCm39) |
H194N |
possibly damaging |
Het |
| Fut8 |
A |
T |
12: 77,522,089 (GRCm39) |
*576L |
probably null |
Het |
| Galns |
T |
C |
8: 123,322,622 (GRCm39) |
|
probably benign |
Het |
| Gamt |
G |
A |
10: 80,094,895 (GRCm39) |
|
probably benign |
Het |
| Gpn1 |
T |
A |
5: 31,652,961 (GRCm39) |
|
probably benign |
Het |
| Ipcef1 |
G |
T |
10: 6,850,600 (GRCm39) |
H330Q |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,156,931 (GRCm39) |
Y1024S |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,259,787 (GRCm39) |
I229V |
probably benign |
Het |
| Katnal1 |
A |
G |
5: 148,858,085 (GRCm39) |
S42P |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,349,298 (GRCm39) |
D142V |
probably damaging |
Het |
| Lig3 |
C |
T |
11: 82,681,417 (GRCm39) |
R470W |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,817 (GRCm39) |
S344G |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mipol1 |
C |
T |
12: 57,507,625 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,300,901 (GRCm39) |
V1378M |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,748 (GRCm39) |
D762V |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,303 (GRCm39) |
T43A |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,227,841 (GRCm39) |
T1316A |
possibly damaging |
Het |
| Naip5 |
A |
G |
13: 100,351,158 (GRCm39) |
|
probably null |
Het |
| Naip5 |
C |
A |
13: 100,359,622 (GRCm39) |
S538I |
probably benign |
Het |
| Nek3 |
A |
T |
8: 22,648,628 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,052,585 (GRCm39) |
S948P |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,169,822 (GRCm39) |
H193L |
probably benign |
Het |
| Or52h1 |
T |
A |
7: 103,828,680 (GRCm39) |
K312* |
probably null |
Het |
| Or9s23 |
A |
G |
1: 92,501,183 (GRCm39) |
K97E |
possibly damaging |
Het |
| Patl2 |
G |
A |
2: 121,956,191 (GRCm39) |
|
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,557,042 (GRCm39) |
R791W |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,355,265 (GRCm39) |
|
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,534,749 (GRCm39) |
V73D |
probably benign |
Het |
| Pknox1 |
A |
T |
17: 31,818,610 (GRCm39) |
H281L |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,502,257 (GRCm39) |
|
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,264,006 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,585,416 (GRCm39) |
F783S |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,619,623 (GRCm39) |
R125G |
probably damaging |
Het |
| Rnpep |
A |
G |
1: 135,200,223 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
T |
A |
7: 16,527,562 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
G |
A |
11: 53,918,829 (GRCm39) |
|
probably benign |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Spmip5 |
G |
A |
19: 58,777,603 (GRCm39) |
A61V |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,066,460 (GRCm39) |
T3208I |
possibly damaging |
Het |
| Tgm5 |
G |
T |
2: 120,908,127 (GRCm39) |
D16E |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,010,886 (GRCm39) |
N558D |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,835,511 (GRCm39) |
L507Q |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,692,695 (GRCm39) |
Q262L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,607,316 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,662,433 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,179,099 (GRCm39) |
L3316Q |
probably damaging |
Het |
| Uckl1 |
T |
A |
2: 181,216,448 (GRCm39) |
Y136F |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,148,534 (GRCm39) |
V870A |
probably benign |
Het |
| Zdhhc25 |
A |
G |
15: 88,485,112 (GRCm39) |
D149G |
probably benign |
Het |
| Zfp648 |
C |
T |
1: 154,081,032 (GRCm39) |
T397M |
probably damaging |
Het |
| Zic2 |
C |
A |
14: 122,716,369 (GRCm39) |
T435K |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCTCCTGGACCCCATAATAAC -3'
(R):5'- CCGAAAGCAATGCCTGTCTACCTG -3'
Sequencing Primer
(F):5'- CATTTTGCCTTCCAAGCAGTTC -3'
(R):5'- TACTACAAGTTCCCAGGGGTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation