Incidental Mutation 'R9576:Epha7'
| ID |
722267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha7
|
| Ensembl Gene |
ENSMUSG00000028289 |
| Gene Name |
Eph receptor A7 |
| Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R9576 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28870659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 312
(C312Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000080934]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
| AlphaFold |
Q61772 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029964
AA Change: C312Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: C312Y
| 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: C312Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: C312Y
| 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: C312Y
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: C312Y
| 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: C312Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: C312Y
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,947,843 (GRCm39) |
I580N |
probably benign |
Het |
| Aars1 |
T |
A |
8: 111,768,296 (GRCm39) |
Y222* |
probably null |
Het |
| Abi2 |
G |
T |
1: 60,449,008 (GRCm39) |
R16L |
possibly damaging |
Het |
| Adam9 |
C |
A |
8: 25,445,953 (GRCm39) |
V814F |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,691,608 (GRCm39) |
T1660A |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,253,207 (GRCm39) |
Y211* |
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,494,254 (GRCm39) |
Y230H |
possibly damaging |
Het |
| Btg4 |
C |
A |
9: 51,030,436 (GRCm39) |
Q179K |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,407,544 (GRCm39) |
E1107* |
probably null |
Het |
| Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
| Cd200r4 |
A |
G |
16: 44,658,338 (GRCm39) |
T241A |
|
Het |
| Chd9 |
T |
A |
8: 91,659,294 (GRCm39) |
S85T |
unknown |
Het |
| Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
| Col6a4 |
C |
A |
9: 105,945,271 (GRCm39) |
A948S |
probably benign |
Het |
| Crygb |
T |
C |
1: 65,119,686 (GRCm39) |
D98G |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,616,198 (GRCm39) |
S246T |
probably benign |
Het |
| Dcp1b |
T |
A |
6: 119,196,993 (GRCm39) |
Y563* |
probably null |
Het |
| Ddx59 |
T |
A |
1: 136,344,681 (GRCm39) |
Y117* |
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,916,712 (GRCm39) |
L601P |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,272,286 (GRCm39) |
T1030M |
probably benign |
Het |
| Dpp10 |
A |
G |
1: 123,269,409 (GRCm39) |
S667P |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,248,122 (GRCm39) |
T300S |
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,655,622 (GRCm39) |
K40R |
probably benign |
Het |
| H2-Q5 |
G |
A |
17: 35,613,413 (GRCm39) |
V49M |
|
Het |
| Havcr1 |
T |
A |
11: 46,669,391 (GRCm39) |
V290E |
probably benign |
Het |
| Hc |
T |
A |
2: 34,873,767 (GRCm39) |
T1656S |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,021,938 (GRCm39) |
I999N |
probably benign |
Het |
| Hoxc4 |
A |
T |
15: 102,944,384 (GRCm39) |
E254V |
probably benign |
Het |
| Il5ra |
T |
C |
6: 106,712,688 (GRCm39) |
N275S |
probably damaging |
Het |
| Itfg2 |
C |
A |
6: 128,389,950 (GRCm39) |
A272S |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,212,505 (GRCm39) |
I1537N |
probably damaging |
Het |
| Jakmip3 |
A |
G |
7: 138,621,988 (GRCm39) |
E296G |
probably damaging |
Het |
| Jchain |
T |
G |
5: 88,673,976 (GRCm39) |
E56A |
probably damaging |
Het |
| Kcnh5 |
A |
T |
12: 74,944,307 (GRCm39) |
S981T |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Klk1b4 |
A |
T |
7: 43,860,477 (GRCm39) |
D165V |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,719,792 (GRCm39) |
Y626F |
unknown |
Het |
| Lrrk2 |
T |
A |
15: 91,636,388 (GRCm39) |
L1454* |
probably null |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,709,827 (GRCm39) |
I607N |
probably damaging |
Het |
| Nefh |
C |
T |
11: 4,891,222 (GRCm39) |
E466K |
possibly damaging |
Het |
| Nudc |
T |
C |
4: 133,262,989 (GRCm39) |
E118G |
probably benign |
Het |
| Or2aj6 |
A |
T |
16: 19,442,961 (GRCm39) |
D296E |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,760 (GRCm39) |
L279S |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Per1 |
T |
A |
11: 68,998,855 (GRCm39) |
M1142K |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Plec |
C |
A |
15: 76,115,377 (GRCm39) |
A66S |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,728,669 (GRCm39) |
Y1199C |
possibly damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,796,569 (GRCm39) |
A302S |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,787,082 (GRCm39) |
W59R |
|
Het |
| Rin3 |
T |
A |
12: 102,335,589 (GRCm39) |
L420* |
probably null |
Het |
| Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,234,730 (GRCm39) |
T354A |
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,472,030 (GRCm39) |
F101S |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,136,182 (GRCm39) |
Q340L |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,578,004 (GRCm39) |
Q600L |
possibly damaging |
Het |
| Slc39a14 |
T |
G |
14: 70,556,235 (GRCm39) |
D47A |
probably benign |
Het |
| Slfn9 |
T |
A |
11: 82,878,211 (GRCm39) |
Y306F |
possibly damaging |
Het |
| Sos1 |
T |
C |
17: 80,742,367 (GRCm39) |
M387V |
probably benign |
Het |
| Srl |
A |
T |
16: 4,301,031 (GRCm39) |
L680Q |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,946,822 (GRCm39) |
R261H |
probably benign |
Het |
| Tm7sf3 |
C |
A |
6: 146,511,335 (GRCm39) |
G385W |
probably damaging |
Het |
| Tmem191 |
C |
T |
16: 17,094,526 (GRCm39) |
R62* |
probably null |
Het |
| Triobp |
T |
C |
15: 78,844,266 (GRCm39) |
S161P |
probably damaging |
Het |
| Usp13 |
A |
T |
3: 32,969,135 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r230 |
C |
A |
17: 21,067,163 (GRCm39) |
C117* |
probably null |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,190 (GRCm39) |
Q837R |
probably benign |
Het |
| Zfp618 |
T |
C |
4: 63,051,282 (GRCm39) |
S688P |
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 |
|
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 |
|
R9796:Epha7
|
UTSW |
4 |
28,817,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATCCCCTGACGTCACAGTC -3'
(R):5'- CGCCTCTTAAATGGTGAGAGG -3'
Sequencing Primer
(F):5'- AGTCAGTACTGGCCCACTTCAC -3'
(R):5'- AGCCTTCACAGGACCAAGGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation