Incidental Mutation 'R1677:Epha7'
ID |
188162 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha7
|
Ensembl Gene |
ENSMUSG00000028289 |
Gene Name |
Eph receptor A7 |
Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
MMRRC Submission |
039713-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.548)
|
Stock # |
R1677 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 28947571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 610
(Y610*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000080934]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
AlphaFold |
Q61772 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029964
AA Change: Y614*
|
SMART Domains |
Protein: ENSMUSP00000029964 Gene: ENSMUSG00000028289 AA Change: Y614*
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: ENSMUST00000080934
|
SMART Domains |
Protein: ENSMUSP00000079735 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 |
transmembrane domain
|
556 |
578 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108191
AA Change: Y610*
|
SMART Domains |
Protein: ENSMUSP00000103826 Gene: ENSMUSG00000028289 AA Change: Y610*
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
|
SMART Domains |
Protein: ENSMUSP00000103829 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 |
transmembrane domain
|
556 |
578 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129912
|
Meta Mutation Damage Score |
0.9717 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
100% (95/95) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
T |
11: 23,467,357 (GRCm39) |
M92K |
probably benign |
Het |
4931406C07Rik |
T |
C |
9: 15,212,660 (GRCm39) |
|
probably null |
Het |
A430005L14Rik |
G |
A |
4: 154,045,357 (GRCm39) |
V129M |
probably damaging |
Het |
Actg2 |
T |
C |
6: 83,499,801 (GRCm39) |
T150A |
possibly damaging |
Het |
Actn1 |
A |
T |
12: 80,306,806 (GRCm39) |
D20E |
probably benign |
Het |
Alcam |
C |
T |
16: 52,091,136 (GRCm39) |
E461K |
probably damaging |
Het |
Anapc1 |
G |
A |
2: 128,518,128 (GRCm39) |
P242L |
probably benign |
Het |
Ankrd49 |
A |
T |
9: 14,692,674 (GRCm39) |
D163E |
probably benign |
Het |
Atp8b5 |
G |
A |
4: 43,372,903 (GRCm39) |
R1149Q |
possibly damaging |
Het |
Cacnb3 |
G |
T |
15: 98,540,455 (GRCm39) |
V328F |
probably damaging |
Het |
Camk4 |
T |
C |
18: 33,309,275 (GRCm39) |
I226T |
probably damaging |
Het |
Ccdc148 |
T |
C |
2: 58,892,176 (GRCm39) |
D172G |
probably damaging |
Het |
Cdh12 |
A |
G |
15: 21,520,491 (GRCm39) |
I319V |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,209,857 (GRCm39) |
|
probably benign |
Het |
Cfap69 |
A |
C |
5: 5,632,457 (GRCm39) |
N15K |
probably damaging |
Het |
Ckap2l |
A |
C |
2: 129,127,087 (GRCm39) |
S364A |
possibly damaging |
Het |
Clic6 |
G |
A |
16: 92,324,972 (GRCm39) |
G36R |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,749,583 (GRCm39) |
Y417C |
probably benign |
Het |
Cstf3 |
T |
A |
2: 104,494,623 (GRCm39) |
|
probably benign |
Het |
Cyp4f39 |
G |
A |
17: 32,711,304 (GRCm39) |
A484T |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,527,963 (GRCm39) |
N3829D |
probably damaging |
Het |
Dntt |
C |
A |
19: 41,017,923 (GRCm39) |
P16T |
probably benign |
Het |
Dym |
T |
A |
18: 75,258,583 (GRCm39) |
I447N |
probably damaging |
Het |
Elmo1 |
T |
C |
13: 20,773,841 (GRCm39) |
V617A |
probably benign |
Het |
Elovl7 |
G |
A |
13: 108,419,160 (GRCm39) |
G264D |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,636,814 (GRCm39) |
I178V |
probably benign |
Het |
Fndc9 |
T |
C |
11: 46,129,152 (GRCm39) |
Y224H |
probably benign |
Het |
Gad1 |
T |
C |
2: 70,404,521 (GRCm39) |
V137A |
probably damaging |
Het |
Gapvd1 |
A |
G |
2: 34,590,773 (GRCm39) |
|
probably null |
Het |
Gbp11 |
C |
T |
5: 105,475,277 (GRCm39) |
C357Y |
probably damaging |
Het |
Gcc1 |
G |
A |
6: 28,419,163 (GRCm39) |
A390V |
probably benign |
Het |
Gm6811 |
A |
G |
17: 21,314,185 (GRCm39) |
|
noncoding transcript |
Het |
Htt |
A |
T |
5: 34,985,918 (GRCm39) |
D1063V |
probably damaging |
Het |
Igfn1 |
C |
T |
1: 135,898,839 (GRCm39) |
A576T |
probably damaging |
Het |
Il12rb2 |
T |
C |
6: 67,280,485 (GRCm39) |
Y240C |
probably damaging |
Het |
Itga3 |
T |
C |
11: 94,946,585 (GRCm39) |
D747G |
probably damaging |
Het |
Kcnip2 |
A |
C |
19: 45,782,979 (GRCm39) |
D134E |
probably damaging |
Het |
Kif2b |
C |
A |
11: 91,466,798 (GRCm39) |
R495I |
probably damaging |
Het |
Lef1 |
T |
C |
3: 130,993,938 (GRCm39) |
|
probably benign |
Het |
Lias |
C |
T |
5: 65,548,981 (GRCm39) |
R4C |
probably damaging |
Het |
Lpcat2 |
T |
C |
8: 93,591,560 (GRCm39) |
V68A |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,505,768 (GRCm39) |
S2067T |
probably benign |
Het |
Lrrc8e |
A |
T |
8: 4,284,190 (GRCm39) |
K138N |
probably damaging |
Het |
Map4k5 |
G |
A |
12: 69,852,082 (GRCm39) |
H767Y |
probably benign |
Het |
Mga |
C |
A |
2: 119,791,333 (GRCm39) |
T2406K |
possibly damaging |
Het |
Mtx1 |
A |
T |
3: 89,116,648 (GRCm39) |
S418T |
probably benign |
Het |
Myh7 |
C |
T |
14: 55,224,973 (GRCm39) |
M531I |
probably benign |
Het |
Myorg |
C |
T |
4: 41,497,947 (GRCm39) |
R561H |
probably benign |
Het |
Ncaph2 |
T |
A |
15: 89,255,427 (GRCm39) |
M555K |
probably damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,244,584 (GRCm39) |
|
probably benign |
Het |
Nrp2 |
A |
G |
1: 62,822,479 (GRCm39) |
S691G |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,222,554 (GRCm39) |
T572A |
probably benign |
Het |
Odf2l |
A |
T |
3: 144,845,543 (GRCm39) |
|
probably null |
Het |
Or5aq6 |
T |
A |
2: 86,923,081 (GRCm39) |
H220L |
probably benign |
Het |
Pcdh20 |
A |
G |
14: 88,705,410 (GRCm39) |
V630A |
probably damaging |
Het |
Pebp4 |
T |
C |
14: 70,285,923 (GRCm39) |
|
probably null |
Het |
Ppfia3 |
T |
A |
7: 45,006,090 (GRCm39) |
M301L |
probably benign |
Het |
Ppp1r21 |
C |
A |
17: 88,858,097 (GRCm39) |
Q203K |
probably benign |
Het |
Prr23a1 |
T |
C |
9: 98,725,406 (GRCm39) |
V256A |
probably benign |
Het |
Rbfox1 |
A |
G |
16: 7,110,091 (GRCm39) |
R150G |
possibly damaging |
Het |
Rnps1-ps |
A |
T |
6: 7,982,943 (GRCm39) |
|
noncoding transcript |
Het |
Robo3 |
T |
C |
9: 37,329,005 (GRCm39) |
R1238G |
possibly damaging |
Het |
Rp9 |
T |
G |
9: 22,365,097 (GRCm39) |
Q35P |
probably damaging |
Het |
Rsrc1 |
C |
A |
3: 67,262,808 (GRCm39) |
A254E |
probably damaging |
Het |
Shtn1 |
T |
A |
19: 58,998,222 (GRCm39) |
K390N |
probably damaging |
Het |
Sidt2 |
C |
T |
9: 45,864,517 (GRCm39) |
V71I |
probably benign |
Het |
Sirt7 |
A |
G |
11: 120,515,365 (GRCm39) |
V97A |
possibly damaging |
Het |
Slc14a2 |
A |
G |
18: 78,206,419 (GRCm39) |
S466P |
probably benign |
Het |
Slc2a10 |
T |
A |
2: 165,357,361 (GRCm39) |
D340E |
probably benign |
Het |
Slc36a2 |
A |
C |
11: 55,075,735 (GRCm39) |
N17K |
probably benign |
Het |
Slc4a10 |
A |
C |
2: 62,155,071 (GRCm39) |
N1086T |
probably benign |
Het |
Sptb |
T |
C |
12: 76,676,423 (GRCm39) |
D177G |
probably damaging |
Het |
Srpk2 |
A |
T |
5: 23,730,748 (GRCm39) |
|
probably null |
Het |
Sucla2 |
T |
G |
14: 73,830,121 (GRCm39) |
V386G |
probably damaging |
Het |
Susd1 |
G |
T |
4: 59,424,089 (GRCm39) |
N45K |
possibly damaging |
Het |
Tbxas1 |
T |
C |
6: 38,994,822 (GRCm39) |
|
probably benign |
Het |
Topors |
C |
T |
4: 40,261,776 (GRCm39) |
E503K |
probably damaging |
Het |
Trpv5 |
T |
C |
6: 41,634,731 (GRCm39) |
R533G |
probably benign |
Het |
Tshr |
A |
G |
12: 91,504,115 (GRCm39) |
H351R |
possibly damaging |
Het |
Ube2f |
G |
A |
1: 91,203,037 (GRCm39) |
V94M |
probably damaging |
Het |
Ugdh |
A |
G |
5: 65,580,521 (GRCm39) |
S216P |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,802,531 (GRCm39) |
|
probably null |
Het |
Vmn1r226 |
A |
G |
17: 20,908,335 (GRCm39) |
E189G |
probably damaging |
Het |
Xrcc6 |
T |
G |
15: 81,913,900 (GRCm39) |
D75E |
probably benign |
Het |
Ypel1 |
A |
G |
16: 16,921,474 (GRCm39) |
L70P |
probably damaging |
Het |
Zcwpw1 |
A |
T |
5: 137,795,022 (GRCm39) |
R73W |
probably damaging |
Het |
Zfp219 |
T |
C |
14: 52,246,512 (GRCm39) |
E160G |
probably damaging |
Het |
Zfp804b |
G |
T |
5: 7,229,533 (GRCm39) |
|
probably benign |
Het |
Zscan22 |
C |
A |
7: 12,640,730 (GRCm39) |
P325T |
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 |
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 |
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'- AGCTTGCACATAATACGTAGACGCC -3'
(R):5'- AGACAAGAACAGCCTCATTGCTTCC -3'
Sequencing Primer
(F):5'- ACTGGAGTAGTCTGTTAAAACTGCTG -3'
(R):5'- GCTTCCGATAGCTCAGGTAAATG -3'
|
Posted On |
2014-05-09 |