Incidental Mutation 'R7367:Epha7'
ID |
571866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha7
|
Ensembl Gene |
ENSMUSG00000028289 |
Gene Name |
Eph receptor A7 |
Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
MMRRC Submission |
045451-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.548)
|
Stock # |
R7367 (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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
A |
G |
3: 137,996,312 (GRCm39) |
T374A |
probably benign |
Het |
Agps |
T |
A |
2: 75,698,657 (GRCm39) |
H348Q |
possibly damaging |
Het |
Ankrd34b |
C |
A |
13: 92,574,795 (GRCm39) |
T9K |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,138,328 (GRCm39) |
Q1203R |
probably damaging |
Het |
B4galnt4 |
A |
G |
7: 140,644,388 (GRCm39) |
N123D |
probably damaging |
Het |
Ccn6 |
A |
G |
10: 39,034,261 (GRCm39) |
C114R |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,811,227 (GRCm39) |
T358A |
probably benign |
Het |
Cfh |
A |
T |
1: 140,014,259 (GRCm39) |
H1188Q |
probably damaging |
Het |
Cisd1 |
A |
G |
10: 71,172,190 (GRCm39) |
Y31H |
probably damaging |
Het |
Cnga1 |
G |
A |
5: 72,762,701 (GRCm39) |
S271F |
possibly damaging |
Het |
Cntnap5a |
A |
G |
1: 116,370,025 (GRCm39) |
T881A |
probably benign |
Het |
Cracd |
T |
A |
5: 77,004,449 (GRCm39) |
L270Q |
unknown |
Het |
Cyp2s1 |
A |
T |
7: 25,505,398 (GRCm39) |
D355E |
possibly damaging |
Het |
Dnaaf10 |
A |
G |
11: 17,182,712 (GRCm39) |
Y291C |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 117,951,177 (GRCm39) |
R3044W |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 118,006,022 (GRCm39) |
D730G |
probably benign |
Het |
Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
Flacc1 |
A |
T |
1: 58,706,023 (GRCm39) |
I282N |
probably benign |
Het |
Fsd2 |
A |
G |
7: 81,184,928 (GRCm39) |
I656T |
probably damaging |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Gm45871 |
A |
T |
18: 90,609,224 (GRCm39) |
H154L |
probably benign |
Het |
Golgb1 |
T |
A |
16: 36,718,908 (GRCm39) |
N312K |
probably benign |
Het |
H2ac4 |
A |
G |
13: 23,935,333 (GRCm39) |
D73G |
possibly damaging |
Het |
Hsd17b4 |
T |
A |
18: 50,288,252 (GRCm39) |
H227Q |
probably damaging |
Het |
Hsd17b6 |
A |
T |
10: 127,829,492 (GRCm39) |
S237T |
probably benign |
Het |
Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
Kcnv1 |
C |
T |
15: 44,972,638 (GRCm39) |
C415Y |
probably damaging |
Het |
Kif11 |
T |
A |
19: 37,408,789 (GRCm39) |
L1037H |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,834,751 (GRCm39) |
T1347A |
probably benign |
Het |
Lrrc32 |
G |
T |
7: 98,148,086 (GRCm39) |
E289* |
probably null |
Het |
Lrrc66 |
T |
C |
5: 73,765,724 (GRCm39) |
T440A |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,799,408 (GRCm39) |
L928P |
probably damaging |
Het |
Nos2 |
G |
A |
11: 78,840,916 (GRCm39) |
C788Y |
possibly damaging |
Het |
Or2c1 |
A |
G |
16: 3,657,166 (GRCm39) |
T110A |
probably damaging |
Het |
Or4x11 |
A |
G |
2: 89,868,156 (GRCm39) |
S298G |
probably benign |
Het |
Or5m5 |
T |
C |
2: 85,814,687 (GRCm39) |
W168R |
possibly damaging |
Het |
Pafah1b3 |
A |
G |
7: 24,995,491 (GRCm39) |
C156R |
probably benign |
Het |
Pak1ip1 |
T |
G |
13: 41,162,371 (GRCm39) |
N151K |
probably damaging |
Het |
Pax7 |
G |
A |
4: 139,507,060 (GRCm39) |
P326S |
probably benign |
Het |
Pex11b |
G |
A |
3: 96,543,994 (GRCm39) |
A21T |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,516,488 (GRCm39) |
V546A |
probably benign |
Het |
Ppat |
T |
A |
5: 77,067,711 (GRCm39) |
R260* |
probably null |
Het |
Ppp1r13l |
C |
G |
7: 19,104,081 (GRCm39) |
S187R |
probably benign |
Het |
Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
R3hdm1 |
A |
G |
1: 128,081,129 (GRCm39) |
D55G |
possibly damaging |
Het |
Rev1 |
A |
T |
1: 38,113,488 (GRCm39) |
Y526* |
probably null |
Het |
Rp1 |
A |
G |
1: 4,418,221 (GRCm39) |
W964R |
probably benign |
Het |
Sarnp |
A |
G |
10: 128,669,247 (GRCm39) |
I35V |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,013,785 (GRCm39) |
N730S |
probably benign |
Het |
Sh3d19 |
A |
G |
3: 86,011,535 (GRCm39) |
K374E |
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,122,577 (GRCm39) |
D446G |
probably benign |
Het |
Sugct |
T |
A |
13: 17,819,399 (GRCm39) |
I149F |
probably damaging |
Het |
Tle2 |
A |
G |
10: 81,416,152 (GRCm39) |
N142S |
probably damaging |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Trpm1 |
T |
A |
7: 63,918,549 (GRCm39) |
Y1514N |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,180,002 (GRCm39) |
S259L |
unknown |
Het |
Utp20 |
A |
T |
10: 88,631,305 (GRCm39) |
L892Q |
probably benign |
Het |
Zfp956 |
C |
T |
6: 47,940,853 (GRCm39) |
T404M |
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 |
|
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 |
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'- ATACTGTGTAAGCGGTGCAG -3'
(R):5'- ACTTTCCCCACCAGAACTATGGG -3'
Sequencing Primer
(F):5'- GCGGTGCAGTTGGGAAC -3'
(R):5'- CCAGAACTATGGGGATATTAAATGAC -3'
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Posted On |
2019-09-13 |