Incidental Mutation 'R9335:Epha7'
| ID |
707053 |
| 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 # |
R9335 (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 28966529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 602
(Y602C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
| AlphaFold |
Q61772 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029964
|
| SMART Domains |
Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
| 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 benign
Transcript: ENSMUST00000108191
|
| SMART Domains |
Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
| 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 benign
Transcript: ENSMUST00000108194
AA Change: Y602C
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: Y602C
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
T |
16: 90,852,830 (GRCm39) |
T102K |
probably damaging |
Het |
| Afm |
A |
T |
5: 90,698,086 (GRCm39) |
D496V |
probably damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,510 (GRCm39) |
M546I |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,409,889 (GRCm39) |
N352K |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,228,236 (GRCm39) |
D1319E |
probably damaging |
Het |
| Atl2 |
A |
G |
17: 80,160,207 (GRCm39) |
I460T |
probably benign |
Het |
| Brms1l |
C |
A |
12: 55,888,431 (GRCm39) |
T73K |
possibly damaging |
Het |
| C1rl |
A |
T |
6: 124,482,341 (GRCm39) |
H154L |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,279,014 (GRCm39) |
L709Q |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,915,431 (GRCm39) |
V716D |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,443,711 (GRCm39) |
S796P |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,078,674 (GRCm39) |
M530K |
probably damaging |
Het |
| Dcbld2 |
A |
T |
16: 58,272,141 (GRCm39) |
Q399L |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,175,611 (GRCm39) |
Y138H |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,992,187 (GRCm39) |
N311S |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,625,489 (GRCm39) |
I107V |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,112,149 (GRCm39) |
V2480G |
possibly damaging |
Het |
| Ect2l |
T |
A |
10: 18,077,032 (GRCm39) |
T24S |
probably null |
Het |
| Egfr |
C |
A |
11: 16,820,991 (GRCm39) |
T302K |
probably damaging |
Het |
| Eid1 |
T |
G |
2: 125,515,578 (GRCm39) |
I156S |
possibly damaging |
Het |
| Elmod1 |
A |
T |
9: 53,843,116 (GRCm39) |
W21R |
probably benign |
Het |
| Enah |
G |
A |
1: 181,749,450 (GRCm39) |
P463L |
probably damaging |
Het |
| Ermap |
T |
A |
4: 119,035,545 (GRCm39) |
Y481F |
probably damaging |
Het |
| Fam114a2 |
G |
T |
11: 57,397,748 (GRCm39) |
T231N |
possibly damaging |
Het |
| Gdap1 |
A |
G |
1: 17,231,389 (GRCm39) |
T245A |
probably benign |
Het |
| Glmp |
T |
A |
3: 88,235,563 (GRCm39) |
V368D |
probably damaging |
Het |
| Gm10203 |
C |
T |
6: 149,031,815 (GRCm39) |
A40V |
unknown |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hao2 |
C |
A |
3: 98,791,010 (GRCm39) |
V55L |
possibly damaging |
Het |
| Hemgn |
A |
T |
4: 46,394,647 (GRCm39) |
S488T |
probably benign |
Het |
| Ighv12-3 |
C |
T |
12: 114,330,312 (GRCm39) |
G61E |
probably damaging |
Het |
| Itga2b |
T |
C |
11: 102,346,478 (GRCm39) |
E986G |
probably damaging |
Het |
| Laptm5 |
T |
G |
4: 130,656,839 (GRCm39) |
S167A |
|
Het |
| Lmtk3 |
A |
T |
7: 45,442,165 (GRCm39) |
Y377F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,258,983 (GRCm39) |
I4569T |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,866,263 (GRCm39) |
N176D |
|
Het |
| Mcf2l |
C |
A |
8: 13,050,812 (GRCm39) |
H356N |
possibly damaging |
Het |
| Mettl4 |
T |
A |
17: 95,042,936 (GRCm39) |
Y300F |
probably damaging |
Het |
| Naaladl2 |
T |
G |
3: 24,467,532 (GRCm39) |
K307N |
possibly damaging |
Het |
| Or1a1b |
T |
A |
11: 74,097,832 (GRCm39) |
D70V |
probably damaging |
Het |
| Or2aj4 |
G |
A |
16: 19,385,513 (GRCm39) |
T40I |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or6c8b |
C |
T |
10: 128,882,614 (GRCm39) |
G106E |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,814,979 (GRCm39) |
M248L |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,825,491 (GRCm39) |
T300A |
probably benign |
Het |
| Ppa1 |
T |
G |
10: 61,484,562 (GRCm39) |
V19G |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,007,013 (GRCm39) |
Y793C |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,325,357 (GRCm39) |
I177F |
probably benign |
Het |
| Prodh |
C |
A |
16: 17,894,160 (GRCm39) |
G457V |
probably damaging |
Het |
| Prrt3 |
T |
C |
6: 113,475,058 (GRCm39) |
K55E |
probably benign |
Het |
| Prx |
G |
T |
7: 27,217,496 (GRCm39) |
V805L |
probably damaging |
Het |
| Ptk6 |
T |
G |
2: 180,844,146 (GRCm39) |
D51A |
probably damaging |
Het |
| Rec114 |
T |
A |
9: 58,565,041 (GRCm39) |
Q205L |
probably null |
Het |
| Rfwd3 |
T |
G |
8: 112,006,567 (GRCm39) |
K510Q |
possibly damaging |
Het |
| Sdhb |
C |
T |
4: 140,700,250 (GRCm39) |
R117C |
probably benign |
Het |
| Serinc2 |
T |
G |
4: 130,158,220 (GRCm39) |
T21P |
probably benign |
Het |
| Serpinb3a |
A |
C |
1: 106,974,886 (GRCm39) |
F216V |
probably damaging |
Het |
| Sertm1 |
T |
C |
3: 54,806,929 (GRCm39) |
D32G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,035,963 (GRCm39) |
D816G |
probably benign |
Het |
| Sfxn4 |
T |
A |
19: 60,839,494 (GRCm39) |
N188I |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,575,553 (GRCm39) |
D711G |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,621 (GRCm39) |
F392L |
probably damaging |
Het |
| Ssbp1 |
T |
C |
6: 40,454,955 (GRCm39) |
L138P |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,092,588 (GRCm39) |
G96E |
probably damaging |
Het |
| Tbc1d9 |
G |
T |
8: 83,937,160 (GRCm39) |
G81C |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,040,640 (GRCm39) |
Q968* |
probably null |
Het |
| Tnni2 |
T |
C |
7: 141,998,003 (GRCm39) |
S169P |
probably damaging |
Het |
| Tpk1 |
T |
C |
6: 43,446,084 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
A |
4: 43,216,123 (GRCm39) |
Y141N |
possibly damaging |
Het |
| Unc13b |
A |
T |
4: 43,255,551 (GRCm39) |
E1057D |
probably damaging |
Het |
| Usf3 |
G |
T |
16: 44,041,936 (GRCm39) |
G2139C |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,430 (GRCm39) |
Y148* |
probably null |
Het |
| Vmn2r42 |
A |
C |
7: 8,197,758 (GRCm39) |
M287R |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,332 (GRCm39) |
H565L |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,476 (GRCm39) |
M83K |
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 |
|
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'- TACATGCAGACAGAGTCTTTCC -3'
(R):5'- AAGGTGCAAGTTGTACATTCTCATC -3'
Sequencing Primer
(F):5'- GACAGAGTCTTTCCTGCTTTTTCTAG -3'
(R):5'- TCTTTCCGGAAGAGAGGATTACAGTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation