Incidental Mutation 'R7368:Epha7'
| ID |
571914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha7
|
| Ensembl Gene |
ENSMUSG00000028289 |
| Gene Name |
Eph receptor A7 |
| Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
| MMRRC Submission |
045452-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.501)
|
| Stock # |
R7368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 99.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
A |
T |
12: 84,659,639 (GRCm39) |
F153I |
possibly damaging |
Het |
| Adcy1 |
G |
A |
11: 7,094,765 (GRCm39) |
V564I |
probably damaging |
Het |
| Apol9b |
T |
C |
15: 77,620,134 (GRCm39) |
I310T |
possibly damaging |
Het |
| Arhgef28 |
C |
A |
13: 98,133,370 (GRCm39) |
V366F |
probably benign |
Het |
| B020004C17Rik |
C |
T |
14: 57,254,773 (GRCm39) |
T199I |
possibly damaging |
Het |
| Carmil2 |
C |
T |
8: 106,417,467 (GRCm39) |
T575I |
possibly damaging |
Het |
| Catsper1 |
A |
T |
19: 5,386,691 (GRCm39) |
Q308L |
unknown |
Het |
| Cpa2 |
T |
A |
6: 30,551,989 (GRCm39) |
S239T |
probably damaging |
Het |
| Cyrib |
A |
T |
15: 63,810,507 (GRCm39) |
|
probably null |
Het |
| Ddit3 |
G |
A |
10: 127,131,776 (GRCm39) |
G108D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,628,239 (GRCm39) |
I1473V |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,445,131 (GRCm39) |
V1520A |
probably benign |
Het |
| Edc4 |
TAGTAGCAGCAGCAGTAGCAGCAGCAG |
TAGTAGCAGCAGCAG |
8: 106,615,037 (GRCm39) |
|
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,057,453 (GRCm39) |
I370F |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,134,457 (GRCm39) |
E272G |
possibly damaging |
Het |
| Fkbp11 |
T |
C |
15: 98,622,307 (GRCm39) |
K189E |
unknown |
Het |
| Frem1 |
T |
A |
4: 82,884,381 (GRCm39) |
E1190D |
probably benign |
Het |
| Gabrg2 |
A |
C |
11: 41,867,390 (GRCm39) |
Y76* |
probably null |
Het |
| Gm11437 |
T |
A |
11: 84,058,298 (GRCm39) |
|
probably benign |
Het |
| Gm8947 |
C |
A |
1: 151,068,847 (GRCm39) |
Q227K |
probably benign |
Het |
| Gm9195 |
A |
G |
14: 72,717,496 (GRCm39) |
F279S |
probably damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,430,655 (GRCm39) |
I42T |
probably benign |
Het |
| Hdac5 |
A |
T |
11: 102,088,207 (GRCm39) |
V939E |
probably null |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Kitl |
A |
T |
10: 99,851,943 (GRCm39) |
I21F |
probably benign |
Het |
| Krt1 |
T |
C |
15: 101,755,307 (GRCm39) |
D484G |
probably damaging |
Het |
| Larp1 |
C |
A |
11: 57,938,904 (GRCm39) |
P527T |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,670,085 (GRCm39) |
V673A |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Mmp27 |
G |
A |
9: 7,577,318 (GRCm39) |
V228M |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo15a |
G |
T |
11: 60,381,741 (GRCm39) |
|
probably null |
Het |
| Myt1 |
A |
G |
2: 181,424,384 (GRCm39) |
K26E |
possibly damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,741 (GRCm39) |
I777N |
probably benign |
Het |
| Nlrc5 |
C |
T |
8: 95,203,021 (GRCm39) |
R374* |
probably null |
Het |
| Nol8 |
T |
C |
13: 49,814,695 (GRCm39) |
S268P |
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,107,968 (GRCm39) |
L1025Q |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,602 (GRCm39) |
S67P |
probably damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,325,078 (GRCm39) |
L140H |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,235,835 (GRCm39) |
N1382S |
probably benign |
Het |
| Pef1 |
T |
A |
4: 130,021,178 (GRCm39) |
L244* |
probably null |
Het |
| Phf11a |
T |
C |
14: 59,518,174 (GRCm39) |
E191G |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,517,144 (GRCm39) |
D702E |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,659,798 (GRCm39) |
G1285D |
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,221,993 (GRCm39) |
D566G |
probably damaging |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| Scgb1b12 |
T |
C |
7: 32,033,992 (GRCm39) |
I84T |
probably damaging |
Het |
| Sh2b1 |
A |
T |
7: 126,067,685 (GRCm39) |
D618E |
possibly damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,512,256 (GRCm39) |
V352E |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,430 (GRCm39) |
E410G |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,570,805 (GRCm39) |
Y261C |
probably damaging |
Het |
| Stra6 |
G |
A |
9: 58,058,543 (GRCm39) |
R468Q |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,921,188 (GRCm39) |
H924R |
unknown |
Het |
| Tbx18 |
C |
A |
9: 87,612,750 (GRCm39) |
V50L |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,833,321 (GRCm39) |
T845I |
probably benign |
Het |
| Usp15 |
T |
C |
10: 123,032,798 (GRCm39) |
D8G |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
| Vps13c |
C |
A |
9: 67,821,355 (GRCm39) |
D1288E |
probably benign |
Het |
| Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,906,437 (GRCm39) |
N201D |
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 |
|
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'- ATACTGTGTAAGCGGTGCAG -3'
(R):5'- TTCCCCACCAGAACTATGGG -3'
Sequencing Primer
(F):5'- GCGGTGCAGTTGGGAAC -3'
(R):5'- CCAGAACTATGGGGATATTAAATGAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation