Incidental Mutation 'R9355:Epha7'
ID |
708319 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha7
|
Ensembl Gene |
ENSMUSG00000028289 |
Gene Name |
Eph receptor A7 |
Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.548)
|
Stock # |
R9355 (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 28935806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 476
(Y476C)
|
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: Y476C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029964 Gene: ENSMUSG00000028289 AA Change: Y476C
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: Y476C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079735 Gene: ENSMUSG00000028289 AA Change: Y476C
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 damaging
Transcript: ENSMUST00000108191
AA Change: Y476C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103826 Gene: ENSMUSG00000028289 AA Change: Y476C
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: Y476C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103829 Gene: ENSMUSG00000028289 AA Change: Y476C
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: 99.7%
- 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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano9 |
A |
G |
7: 140,681,817 (GRCm39) |
V747A |
probably benign |
Het |
Arfgef1 |
G |
A |
1: 10,270,000 (GRCm39) |
P383L |
probably benign |
Het |
Arhgef4 |
A |
G |
1: 34,849,630 (GRCm39) |
E407G |
probably benign |
Het |
Astn1 |
C |
T |
1: 158,511,721 (GRCm39) |
L1188F |
probably damaging |
Het |
Atg2b |
G |
A |
12: 105,636,980 (GRCm39) |
P179S |
possibly damaging |
Het |
Bcl9l |
G |
A |
9: 44,419,000 (GRCm39) |
R983H |
probably benign |
Het |
Bmp2k |
T |
A |
5: 97,211,366 (GRCm39) |
Y511* |
probably null |
Het |
C1galt1 |
G |
T |
6: 7,866,474 (GRCm39) |
V107F |
probably damaging |
Het |
Car3 |
T |
A |
3: 14,928,664 (GRCm39) |
N11K |
|
Het |
Ccdc170 |
A |
G |
10: 4,508,695 (GRCm39) |
R640G |
probably benign |
Het |
Cep126 |
A |
G |
9: 8,100,038 (GRCm39) |
V832A |
possibly damaging |
Het |
Ces1h |
C |
T |
8: 94,101,149 (GRCm39) |
V49I |
|
Het |
Clasp2 |
T |
A |
9: 113,664,309 (GRCm39) |
V310D |
probably damaging |
Het |
Comp |
C |
T |
8: 70,828,699 (GRCm39) |
T177M |
probably benign |
Het |
Coro1c |
T |
C |
5: 114,003,726 (GRCm39) |
S98G |
probably damaging |
Het |
Cpa6 |
C |
T |
1: 10,479,520 (GRCm39) |
V238I |
probably benign |
Het |
Crebrf |
T |
C |
17: 26,962,094 (GRCm39) |
F397S |
probably damaging |
Het |
Dcpp1 |
C |
A |
17: 24,099,987 (GRCm39) |
Q3K |
possibly damaging |
Het |
Dzip1l |
A |
G |
9: 99,543,144 (GRCm39) |
D533G |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,844,114 (GRCm39) |
S551T |
probably benign |
Het |
Epha5 |
T |
C |
5: 84,253,890 (GRCm39) |
E524G |
probably damaging |
Het |
Erich5 |
G |
T |
15: 34,471,001 (GRCm39) |
V77F |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,036,047 (GRCm39) |
Y3233C |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,421,716 (GRCm39) |
V521E |
probably benign |
Het |
Gm5431 |
A |
G |
11: 48,785,275 (GRCm39) |
Y89H |
probably damaging |
Het |
Gm5624 |
A |
T |
14: 44,799,272 (GRCm39) |
L95* |
probably null |
Het |
Gphn |
A |
G |
12: 78,538,968 (GRCm39) |
T205A |
probably damaging |
Het |
Grik5 |
C |
A |
7: 24,767,597 (GRCm39) |
A28S |
possibly damaging |
Het |
H2-K2 |
A |
G |
17: 34,216,120 (GRCm39) |
S300P |
probably benign |
Het |
H2-Oa |
T |
C |
17: 34,313,723 (GRCm39) |
L227P |
possibly damaging |
Het |
Hhip |
T |
C |
8: 80,778,233 (GRCm39) |
N99S |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,328,302 (GRCm39) |
M4328L |
probably benign |
Het |
Htt |
A |
T |
5: 35,053,247 (GRCm39) |
M2527L |
probably benign |
Het |
Impdh2 |
A |
T |
9: 108,442,402 (GRCm39) |
H466L |
probably benign |
Het |
Itgae |
G |
A |
11: 73,006,906 (GRCm39) |
G384D |
probably damaging |
Het |
Krt90 |
T |
C |
15: 101,461,714 (GRCm39) |
S496G |
unknown |
Het |
Krtap5-5 |
A |
G |
7: 141,783,114 (GRCm39) |
S179P |
unknown |
Het |
Lif |
C |
T |
11: 4,219,044 (GRCm39) |
R63W |
probably damaging |
Het |
Lrrc10 |
T |
C |
10: 116,881,881 (GRCm39) |
V185A |
probably damaging |
Het |
Lrrc27 |
A |
C |
7: 138,822,648 (GRCm39) |
Q513P |
probably damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Map2k3 |
T |
C |
11: 60,823,055 (GRCm39) |
S3P |
possibly damaging |
Het |
Mc2r |
T |
C |
18: 68,541,195 (GRCm39) |
T33A |
probably benign |
Het |
Mefv |
T |
A |
16: 3,525,882 (GRCm39) |
D795V |
probably damaging |
Het |
Megf6 |
A |
T |
4: 154,338,282 (GRCm39) |
R451W |
probably damaging |
Het |
Mrpl21 |
G |
A |
19: 3,336,937 (GRCm39) |
V103M |
probably damaging |
Het |
Mtmr14 |
GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC |
GCCGCCGCCTC |
6: 113,214,948 (GRCm39) |
|
probably null |
Het |
Myom1 |
T |
C |
17: 71,384,888 (GRCm39) |
S760P |
probably damaging |
Het |
Ndst4 |
A |
G |
3: 125,403,246 (GRCm39) |
Y451C |
probably damaging |
Het |
Nkain4 |
T |
C |
2: 180,577,775 (GRCm39) |
N193S |
possibly damaging |
Het |
Opa1 |
T |
A |
16: 29,432,807 (GRCm39) |
L490H |
probably damaging |
Het |
Opcml |
A |
C |
9: 28,814,650 (GRCm39) |
I301L |
probably benign |
Het |
Or10ak16 |
G |
A |
4: 118,750,784 (GRCm39) |
S168N |
probably benign |
Het |
Or1e33 |
A |
G |
11: 73,738,643 (GRCm39) |
F103L |
probably damaging |
Het |
Or4p23 |
A |
T |
2: 88,576,749 (GRCm39) |
I161N |
probably damaging |
Het |
Or52s19 |
T |
C |
7: 103,008,125 (GRCm39) |
H92R |
probably benign |
Het |
Pabpc1l |
T |
C |
2: 163,884,469 (GRCm39) |
L402P |
probably benign |
Het |
Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
Peak1 |
G |
T |
9: 56,167,454 (GRCm39) |
A158E |
probably damaging |
Het |
Ppfibp2 |
C |
T |
7: 107,322,169 (GRCm39) |
P406L |
probably benign |
Het |
Qpctl |
T |
C |
7: 18,875,146 (GRCm39) |
H362R |
probably damaging |
Het |
Ripor2 |
A |
G |
13: 24,885,694 (GRCm39) |
H643R |
probably benign |
Het |
Scn11a |
A |
T |
9: 119,584,160 (GRCm39) |
L1485Q |
probably damaging |
Het |
Scn2a |
A |
T |
2: 65,594,433 (GRCm39) |
I1761F |
probably damaging |
Het |
Scrn3 |
A |
G |
2: 73,166,077 (GRCm39) |
D370G |
probably benign |
Het |
Sec24b |
A |
T |
3: 129,787,489 (GRCm39) |
F877Y |
possibly damaging |
Het |
Slc35f3 |
T |
C |
8: 127,108,967 (GRCm39) |
I172T |
probably damaging |
Het |
Smc3 |
T |
C |
19: 53,622,544 (GRCm39) |
|
probably null |
Het |
Smpd3 |
C |
T |
8: 106,991,825 (GRCm39) |
V243M |
probably damaging |
Het |
Sos1 |
T |
A |
17: 80,722,479 (GRCm39) |
I856F |
possibly damaging |
Het |
Sp2 |
A |
T |
11: 96,852,231 (GRCm39) |
L231H |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,318,255 (GRCm39) |
Y457C |
probably damaging |
Het |
Tdpoz6 |
T |
C |
3: 93,600,307 (GRCm39) |
T21A |
possibly damaging |
Het |
Tekt5 |
T |
C |
16: 10,213,268 (GRCm39) |
T6A |
possibly damaging |
Het |
Tln2 |
G |
T |
9: 67,262,529 (GRCm39) |
T574K |
possibly damaging |
Het |
Tmem161a |
T |
C |
8: 70,633,821 (GRCm39) |
S313P |
probably damaging |
Het |
Trmt12 |
G |
A |
15: 58,744,824 (GRCm39) |
C74Y |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,649,473 (GRCm39) |
D561G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,700,769 (GRCm39) |
V62A |
|
Het |
Tubgcp5 |
T |
C |
7: 55,467,177 (GRCm39) |
|
probably null |
Het |
Unc13a |
C |
T |
8: 72,098,375 (GRCm39) |
V1137M |
possibly damaging |
Het |
Zfp729a |
A |
G |
13: 67,767,515 (GRCm39) |
C905R |
probably damaging |
Het |
Zfp735 |
A |
G |
11: 73,602,362 (GRCm39) |
I435M |
probably benign |
Het |
Zswim4 |
C |
A |
8: 84,955,687 (GRCm39) |
G271W |
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 |
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 |
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'- ACCTTAATGAAACTGGCACGGC -3'
(R):5'- AATAGAGCTGTTGGTCACAATCC -3'
Sequencing Primer
(F):5'- CATGGGACTGATCAGTTGTGAC -3'
(R):5'- TGTTGGTCACAATCCTAAACCAGAGG -3'
|
Posted On |
2022-04-18 |