Incidental Mutation 'R7605:Epha7'
| ID |
588222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha7
|
| Ensembl Gene |
ENSMUSG00000028289 |
| Gene Name |
Eph receptor A7 |
| Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
| MMRRC Submission |
045675-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R7605 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28871937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 422
(S422L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000080934]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
| AlphaFold |
Q61772 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029964
AA Change: S422L
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: S422L
| 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 |
possibly damaging
Transcript: ENSMUST00000080934
AA Change: S422L
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: S422L
| 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 benign
Transcript: ENSMUST00000108191
AA Change: S422L
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: S422L
| 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 |
possibly damaging
Transcript: ENSMUST00000108194
AA Change: S422L
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: S422L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 |
|---|
| Abcb5 |
A |
G |
12: 118,881,899 (GRCm39) |
L610P |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Asphd2 |
A |
G |
5: 112,539,807 (GRCm39) |
W9R |
probably damaging |
Het |
| Blvrb |
T |
A |
7: 27,165,218 (GRCm39) |
H179Q |
probably damaging |
Het |
| Capn13 |
A |
T |
17: 73,652,132 (GRCm39) |
|
probably null |
Het |
| Casp6 |
A |
T |
3: 129,705,812 (GRCm39) |
M160L |
probably benign |
Het |
| Chordc1 |
A |
G |
9: 18,215,668 (GRCm39) |
E140G |
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,244,442 (GRCm39) |
Y1572F |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,852,658 (GRCm39) |
S235P |
probably damaging |
Het |
| Cyp2u1 |
A |
T |
3: 131,091,602 (GRCm39) |
M306K |
probably damaging |
Het |
| Dhx33 |
A |
G |
11: 70,890,299 (GRCm39) |
L240P |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,796,054 (GRCm39) |
D494E |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,671,470 (GRCm39) |
R1620C |
probably damaging |
Het |
| Dpp8 |
G |
A |
9: 64,962,240 (GRCm39) |
V427M |
probably benign |
Het |
| Dpt |
G |
A |
1: 164,624,400 (GRCm39) |
G34S |
unknown |
Het |
| Emb |
T |
A |
13: 117,401,046 (GRCm39) |
N198K |
probably damaging |
Het |
| Entpd5 |
T |
G |
12: 84,443,482 (GRCm39) |
H62P |
probably damaging |
Het |
| Ep300 |
A |
C |
15: 81,505,353 (GRCm39) |
M658L |
unknown |
Het |
| Epb41l4a |
T |
A |
18: 33,930,504 (GRCm39) |
D651V |
probably damaging |
Het |
| Ephb2 |
A |
T |
4: 136,498,419 (GRCm39) |
V220E |
probably damaging |
Het |
| Fam187a |
T |
A |
11: 102,776,874 (GRCm39) |
L226H |
possibly damaging |
Het |
| Fbxo42 |
G |
A |
4: 140,927,129 (GRCm39) |
A470T |
probably benign |
Het |
| Fcgrt |
C |
T |
7: 44,744,675 (GRCm39) |
W264* |
probably null |
Het |
| Flt3 |
A |
C |
5: 147,286,386 (GRCm39) |
H733Q |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,560 (GRCm39) |
D228G |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,054,735 (GRCm39) |
S681P |
probably damaging |
Het |
| Gata2 |
T |
C |
6: 88,177,390 (GRCm39) |
V140A |
possibly damaging |
Het |
| Gm8232 |
A |
T |
14: 44,672,384 (GRCm39) |
N100I |
|
Het |
| Grik4 |
A |
G |
9: 42,599,367 (GRCm39) |
C37R |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,618,678 (GRCm39) |
E388G |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Igsf9b |
C |
T |
9: 27,234,608 (GRCm39) |
T491I |
probably damaging |
Het |
| Impa1 |
C |
T |
3: 10,389,147 (GRCm39) |
V105I |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,567,771 (GRCm39) |
T134A |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,897,302 (GRCm39) |
V1521E |
probably benign |
Het |
| Iws1 |
T |
A |
18: 32,222,540 (GRCm39) |
D623E |
probably benign |
Het |
| Lhfpl5 |
T |
C |
17: 28,795,305 (GRCm39) |
S111P |
possibly damaging |
Het |
| Lyzl1 |
T |
C |
18: 4,169,244 (GRCm39) |
C83R |
probably damaging |
Het |
| Madd |
G |
A |
2: 91,000,055 (GRCm39) |
T617M |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,433,383 (GRCm39) |
T163A |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,694,599 (GRCm39) |
H1107Q |
probably damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,214,591 (GRCm39) |
Y454N |
probably benign |
Het |
| Mrgprb3 |
T |
A |
7: 48,292,862 (GRCm39) |
I230F |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,974,505 (GRCm39) |
L1162F |
probably damaging |
Het |
| Or11i1 |
G |
T |
3: 106,729,337 (GRCm39) |
H179Q |
probably damaging |
Het |
| Or2aj5 |
T |
C |
16: 19,425,022 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or51f23b |
C |
T |
7: 102,402,952 (GRCm39) |
M61I |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,075 (GRCm39) |
L15P |
probably damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,671,383 (GRCm39) |
F251L |
probably benign |
Het |
| Or9e1 |
A |
G |
11: 58,732,326 (GRCm39) |
I129V |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,729,050 (GRCm39) |
L2636P |
unknown |
Het |
| Pfkm |
G |
A |
15: 98,019,191 (GRCm39) |
A181T |
probably damaging |
Het |
| Pik3r1 |
C |
T |
13: 101,839,346 (GRCm39) |
A169T |
probably benign |
Het |
| R3hdml |
T |
A |
2: 163,337,688 (GRCm39) |
M114K |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,821,189 (GRCm39) |
R1310S |
probably benign |
Het |
| Scnm1 |
A |
T |
3: 95,040,186 (GRCm39) |
N115K |
probably benign |
Het |
| Sfn |
A |
G |
4: 133,328,548 (GRCm39) |
V178A |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,645,516 (GRCm39) |
T366I |
possibly damaging |
Het |
| Siah1a |
T |
C |
8: 87,451,953 (GRCm39) |
D177G |
probably damaging |
Het |
| Slc37a2 |
A |
C |
9: 37,148,624 (GRCm39) |
I286S |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,119,118 (GRCm39) |
T12A |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,654 (GRCm39) |
S399T |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,102,506 (GRCm39) |
S942G |
possibly damaging |
Het |
| Syt13 |
T |
C |
2: 92,773,478 (GRCm39) |
F164S |
probably benign |
Het |
| Topbp1 |
A |
T |
9: 103,209,905 (GRCm39) |
T851S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,800,015 (GRCm39) |
S398T |
unknown |
Het |
| Vmn1r12 |
T |
C |
6: 57,136,521 (GRCm39) |
V206A |
probably damaging |
Het |
| Vmn1r224 |
G |
A |
17: 20,640,221 (GRCm39) |
W266* |
probably null |
Het |
| Vmn2r68 |
T |
C |
7: 84,883,116 (GRCm39) |
D212G |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,770,792 (GRCm39) |
K2078N |
probably damaging |
Het |
| Zfp251 |
A |
C |
15: 76,738,557 (GRCm39) |
F179V |
possibly 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 |
|
|
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 |
|
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'- TACTGTGTAAGCGGTGCAG -3'
(R):5'- CTTTCCCCACCAGAACTATGG -3'
Sequencing Primer
(F):5'- GCGGTGCAGTTGGGAAC -3'
(R):5'- CCAGAACTATGGGGATATTAAATGAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation