Incidental Mutation 'R8263:Epha7'
ID |
639764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha7
|
Ensembl Gene |
ENSMUSG00000028289 |
Gene Name |
Eph receptor A7 |
Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
MMRRC Submission |
067688-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R8263 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28821149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 105
(T105A)
|
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: T105A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029964 Gene: ENSMUSG00000028289 AA Change: T105A
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: T105A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079735 Gene: ENSMUSG00000028289 AA Change: T105A
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: T105A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103826 Gene: ENSMUSG00000028289 AA Change: T105A
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: T105A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103829 Gene: ENSMUSG00000028289 AA Change: T105A
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: 99.6%
- 20x: 98.8%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630095N17Rik |
T |
A |
1: 75,208,683 (GRCm39) |
R12S |
unknown |
Het |
Ankrd10 |
C |
T |
8: 11,665,707 (GRCm39) |
V298I |
probably benign |
Het |
Atg4d |
T |
A |
9: 21,178,335 (GRCm39) |
M151K |
probably damaging |
Het |
Calhm5 |
C |
A |
10: 33,972,192 (GRCm39) |
C81F |
probably damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,644,072 (GRCm39) |
H1048Q |
probably damaging |
Het |
Cd300ld2 |
A |
G |
11: 114,903,192 (GRCm39) |
S218P |
unknown |
Het |
Clec3a |
T |
C |
8: 115,152,369 (GRCm39) |
V125A |
probably benign |
Het |
Cnot6 |
A |
T |
11: 49,573,002 (GRCm39) |
Y241N |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 31,015,134 (GRCm39) |
F1686Y |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,613,421 (GRCm39) |
K1285E |
noncoding transcript |
Het |
Dop1b |
T |
C |
16: 93,559,083 (GRCm39) |
S610P |
possibly damaging |
Het |
Ehhadh |
A |
T |
16: 21,592,295 (GRCm39) |
L136H |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,748,965 (GRCm39) |
E434D |
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,770,968 (GRCm39) |
V108A |
probably benign |
Het |
Fat2 |
G |
A |
11: 55,174,962 (GRCm39) |
T1917I |
probably benign |
Het |
Fbxo45 |
A |
G |
16: 32,065,533 (GRCm39) |
S33P |
unknown |
Het |
Fig4 |
A |
T |
10: 41,143,711 (GRCm39) |
Y249* |
probably null |
Het |
Fryl |
T |
C |
5: 73,238,348 (GRCm39) |
Y1466C |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Glod4 |
T |
C |
11: 76,125,318 (GRCm39) |
D147G |
possibly damaging |
Het |
Gm12695 |
T |
G |
4: 96,651,046 (GRCm39) |
M136L |
probably benign |
Het |
Gm5422 |
A |
G |
10: 31,125,099 (GRCm39) |
T313A |
noncoding transcript |
Het |
Hydin |
C |
A |
8: 111,178,705 (GRCm39) |
A1100D |
probably benign |
Het |
Ift172 |
G |
A |
5: 31,422,681 (GRCm39) |
A923V |
possibly damaging |
Het |
Irgc |
G |
A |
7: 24,132,107 (GRCm39) |
H237Y |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,604,262 (GRCm39) |
I50T |
possibly damaging |
Het |
Itpr3 |
C |
T |
17: 27,334,887 (GRCm39) |
Q2134* |
probably null |
Het |
Kat8 |
A |
T |
7: 127,523,653 (GRCm39) |
D292V |
possibly damaging |
Het |
Kdm2a |
A |
G |
19: 4,374,392 (GRCm39) |
M913T |
possibly damaging |
Het |
Larp4 |
T |
C |
15: 99,883,961 (GRCm39) |
V66A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,462,858 (GRCm39) |
D899G |
probably damaging |
Het |
Lrrc47 |
G |
T |
4: 154,100,486 (GRCm39) |
R354L |
probably damaging |
Het |
Lss |
C |
T |
10: 76,367,739 (GRCm39) |
R24C |
probably damaging |
Het |
Mmp14 |
C |
T |
14: 54,673,244 (GRCm39) |
R51C |
probably damaging |
Het |
Mon1a |
C |
T |
9: 107,775,993 (GRCm39) |
T37I |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,869,510 (GRCm39) |
W1042R |
possibly damaging |
Het |
Nacc2 |
A |
C |
2: 25,952,240 (GRCm39) |
V372G |
probably damaging |
Het |
Ncapg |
T |
C |
5: 45,849,134 (GRCm39) |
V690A |
probably benign |
Het |
Nhej1 |
A |
G |
1: 75,006,896 (GRCm39) |
L152P |
probably damaging |
Het |
Nol4l |
A |
T |
2: 153,259,337 (GRCm39) |
S522R |
probably damaging |
Het |
Nr0b2 |
A |
G |
4: 133,281,241 (GRCm39) |
Y169C |
probably damaging |
Het |
Numa1 |
A |
G |
7: 101,648,491 (GRCm39) |
M741V |
probably benign |
Het |
Or10d1b |
A |
G |
9: 39,613,453 (GRCm39) |
M204T |
possibly damaging |
Het |
Or8g28 |
A |
G |
9: 39,169,899 (GRCm39) |
L26P |
probably damaging |
Het |
Pebp1 |
C |
A |
5: 117,425,473 (GRCm39) |
|
probably null |
Het |
Pik3ip1 |
A |
T |
11: 3,291,581 (GRCm39) |
I217F |
probably damaging |
Het |
Plekhg1 |
T |
A |
10: 3,907,651 (GRCm39) |
I911N |
|
Het |
Pnpla8 |
T |
C |
12: 44,342,846 (GRCm39) |
I534T |
probably damaging |
Het |
Ppp2r2a |
A |
T |
14: 67,261,205 (GRCm39) |
F172I |
probably damaging |
Het |
Rab7 |
C |
T |
6: 87,989,292 (GRCm39) |
M59I |
probably benign |
Het |
Rbm34 |
T |
C |
8: 127,692,139 (GRCm39) |
N201S |
probably benign |
Het |
Rfx1 |
G |
T |
8: 84,821,483 (GRCm39) |
R764L |
probably damaging |
Het |
Rnase12 |
T |
A |
14: 51,294,580 (GRCm39) |
D33V |
probably damaging |
Het |
Rnf121 |
A |
G |
7: 101,684,532 (GRCm39) |
L127P |
probably damaging |
Het |
Rtl1 |
C |
A |
12: 109,560,180 (GRCm39) |
R553L |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,881,736 (GRCm39) |
L601P |
probably damaging |
Het |
Scyl2 |
G |
T |
10: 89,476,525 (GRCm39) |
Q867K |
possibly damaging |
Het |
Sgtb |
T |
C |
13: 104,268,692 (GRCm39) |
F213L |
probably benign |
Het |
Slc35f4 |
A |
G |
14: 49,551,084 (GRCm39) |
V260A |
probably damaging |
Het |
Slfn14 |
A |
G |
11: 83,174,299 (GRCm39) |
Y231H |
possibly damaging |
Het |
Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
Stard13 |
G |
A |
5: 151,157,106 (GRCm39) |
A25V |
possibly damaging |
Het |
Stk38 |
C |
T |
17: 29,203,161 (GRCm39) |
R135H |
probably damaging |
Het |
Svil |
A |
G |
18: 5,108,679 (GRCm39) |
D1939G |
probably damaging |
Het |
Tasor2 |
C |
T |
13: 3,625,286 (GRCm39) |
V1555I |
possibly damaging |
Het |
Tasor2 |
G |
T |
13: 3,640,016 (GRCm39) |
P374T |
probably benign |
Het |
Tbc1d7 |
A |
G |
13: 43,323,340 (GRCm39) |
V17A |
possibly damaging |
Het |
Trpc4 |
T |
C |
3: 54,129,756 (GRCm39) |
V174A |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,619,028 (GRCm39) |
T16117K |
probably damaging |
Het |
Tubb3 |
T |
A |
8: 124,147,868 (GRCm39) |
M267K |
possibly damaging |
Het |
Upk1b |
T |
C |
16: 38,604,585 (GRCm39) |
T147A |
probably damaging |
Het |
Vmn2r107 |
G |
T |
17: 20,580,614 (GRCm39) |
C517F |
probably damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,824,140 (GRCm39) |
D465G |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,507,619 (GRCm39) |
H564Q |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,686,726 (GRCm39) |
I702M |
possibly damaging |
Het |
Vmn2r84 |
A |
G |
10: 130,227,037 (GRCm39) |
V267A |
probably damaging |
Het |
Zfp445 |
T |
C |
9: 122,681,878 (GRCm39) |
I688V |
probably benign |
Het |
Zfp955a |
C |
T |
17: 33,463,087 (GRCm39) |
V15M |
probably damaging |
Het |
Zfp960 |
T |
A |
17: 17,308,202 (GRCm39) |
C305* |
probably null |
Het |
Zfp964 |
A |
G |
8: 70,116,345 (GRCm39) |
D315G |
possibly damaging |
Het |
Zmynd10 |
T |
A |
9: 107,426,516 (GRCm39) |
I183K |
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 |
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 |
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'- AGACTGATGAATCCCCTTCCCC -3'
(R):5'- AGCCCCTACATCCTGAAAGG -3'
Sequencing Primer
(F):5'- CTCTTTTTCCAAAACTTTACAGTGGG -3'
(R):5'- GGCAAGATAGAATCCCTTTTTGGAC -3'
|
Posted On |
2020-07-28 |