Incidental Mutation 'R0632:Epha7'
| ID |
59690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha7
|
| Ensembl Gene |
ENSMUSG00000028289 |
| Gene Name |
Eph receptor A7 |
| Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
| MMRRC Submission |
038821-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R0632 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28821104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 90
(I90F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000080934]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
| AlphaFold |
Q61772 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029964
AA Change: I90F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: I90F
| 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: I90F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: I90F
| 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: I90F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: I90F
| 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: I90F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: I90F
| 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: ENSMUST00000136827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149030
|
| Meta Mutation Damage Score |
0.3675 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
95% (81/85) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
T |
A |
9: 119,176,884 (GRCm39) |
|
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,562,952 (GRCm39) |
T462S |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 52,983,931 (GRCm39) |
N825I |
probably damaging |
Het |
| Ankib1 |
T |
A |
5: 3,822,529 (GRCm39) |
N59I |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,033,167 (GRCm39) |
S633G |
possibly damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,891,200 (GRCm39) |
Y522* |
probably null |
Het |
| Art5 |
G |
A |
7: 101,747,164 (GRCm39) |
T205I |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,599,855 (GRCm39) |
L176H |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,117,026 (GRCm39) |
D529G |
probably benign |
Het |
| C2cd4a |
T |
C |
9: 67,738,845 (GRCm39) |
E66G |
probably benign |
Het |
| C8a |
T |
C |
4: 104,713,689 (GRCm39) |
D147G |
probably damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,542,019 (GRCm39) |
V532A |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,432,749 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,720,958 (GRCm39) |
E2543K |
unknown |
Het |
| Cldn13 |
C |
T |
5: 134,943,601 (GRCm39) |
E195K |
probably benign |
Het |
| Cp |
A |
G |
3: 20,025,246 (GRCm39) |
S402G |
probably null |
Het |
| Cpa3 |
T |
C |
3: 20,279,358 (GRCm39) |
T194A |
probably benign |
Het |
| Crygf |
C |
A |
1: 65,967,156 (GRCm39) |
Y93* |
probably null |
Het |
| Ctsh |
A |
G |
9: 89,943,635 (GRCm39) |
R87G |
possibly damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,857,671 (GRCm39) |
D428G |
possibly damaging |
Het |
| Dnah17 |
C |
G |
11: 117,958,508 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,567,128 (GRCm39) |
V2366A |
probably benign |
Het |
| Dscaml1 |
A |
T |
9: 45,643,432 (GRCm39) |
I1284F |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,405,403 (GRCm39) |
|
probably benign |
Het |
| Dst |
G |
T |
1: 34,310,494 (GRCm39) |
R4098L |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,720,487 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
A |
11: 102,328,707 (GRCm39) |
D684V |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,012,947 (GRCm39) |
V665A |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,170,819 (GRCm39) |
C2191R |
probably damaging |
Het |
| Fkbp3 |
G |
A |
12: 65,120,692 (GRCm39) |
A2V |
probably benign |
Het |
| G6pd2 |
A |
G |
5: 61,967,514 (GRCm39) |
N430D |
probably benign |
Het |
| Gm13547 |
T |
A |
2: 29,651,596 (GRCm39) |
D7E |
possibly damaging |
Het |
| H4c9 |
G |
T |
13: 22,225,197 (GRCm39) |
Y99* |
probably null |
Het |
| Hdac5 |
A |
T |
11: 102,096,638 (GRCm39) |
D260E |
probably damaging |
Het |
| Hsf2bp |
T |
C |
17: 32,232,320 (GRCm39) |
E142G |
probably damaging |
Het |
| Igf1r |
C |
T |
7: 67,814,903 (GRCm39) |
T268I |
probably damaging |
Het |
| Inava |
T |
C |
1: 136,155,356 (GRCm39) |
D83G |
probably benign |
Het |
| Kcne3 |
C |
T |
7: 99,833,646 (GRCm39) |
R88C |
probably damaging |
Het |
| Klk1b9 |
G |
T |
7: 43,628,796 (GRCm39) |
G100V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,059,363 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
C |
T |
11: 34,032,426 (GRCm39) |
P335S |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,680,231 (GRCm39) |
N2047K |
probably damaging |
Het |
| Mcub |
T |
C |
3: 129,712,375 (GRCm39) |
M167V |
probably benign |
Het |
| Mia2 |
T |
C |
12: 59,182,929 (GRCm39) |
L36P |
probably damaging |
Het |
| Mmp13 |
G |
A |
9: 7,274,032 (GRCm39) |
G169R |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,282,077 (GRCm39) |
I460F |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,602,532 (GRCm39) |
I232T |
probably damaging |
Het |
| Msra |
T |
A |
14: 64,447,981 (GRCm39) |
M145L |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,761,357 (GRCm39) |
|
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,842,206 (GRCm39) |
N422K |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,121,115 (GRCm39) |
F353I |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,895,473 (GRCm39) |
K384E |
probably damaging |
Het |
| Or51h5 |
C |
T |
7: 102,577,811 (GRCm39) |
|
probably null |
Het |
| Or52e15 |
A |
G |
7: 104,645,910 (GRCm39) |
I67T |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,213,544 (GRCm39) |
I39V |
probably benign |
Het |
| Phox2b |
T |
G |
5: 67,253,557 (GRCm39) |
|
probably benign |
Het |
| Plec |
A |
T |
15: 76,057,611 (GRCm39) |
S4131T |
probably damaging |
Het |
| Pptc7 |
G |
A |
5: 122,451,654 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
G |
A |
4: 144,090,352 (GRCm39) |
C464Y |
probably damaging |
Het |
| Prpf40b |
A |
G |
15: 99,214,170 (GRCm39) |
E810G |
probably benign |
Het |
| Ptprc |
C |
T |
1: 138,001,348 (GRCm39) |
V965I |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,455,415 (GRCm39) |
M180K |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,009,896 (GRCm39) |
|
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,120,393 (GRCm39) |
S787P |
probably benign |
Het |
| Rnf19b |
T |
A |
4: 128,967,344 (GRCm39) |
N294K |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,120,393 (GRCm39) |
H156L |
possibly damaging |
Het |
| Serpinb6c |
C |
T |
13: 34,064,014 (GRCm39) |
R347Q |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,906 (GRCm39) |
I416T |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,277,500 (GRCm39) |
F279Y |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,719,429 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tab2 |
A |
G |
10: 7,795,565 (GRCm39) |
S232P |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,227,325 (GRCm39) |
K1356* |
probably null |
Het |
| Tmem87a |
A |
G |
2: 120,190,023 (GRCm39) |
S544P |
probably damaging |
Het |
| Trim52 |
T |
A |
14: 106,344,401 (GRCm39) |
C20S |
probably damaging |
Het |
| Usp38 |
A |
T |
8: 81,740,779 (GRCm39) |
V96E |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,708,308 (GRCm39) |
Y33C |
probably damaging |
Het |
| Vsig10l |
T |
G |
7: 43,113,561 (GRCm39) |
V171G |
probably damaging |
Het |
| Zfp957 |
T |
A |
14: 79,450,360 (GRCm39) |
I480F |
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 |
|
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 |
|
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'- GCATGTTGTAGACTCACCGGAGAC -3'
(R):5'- TGCAAGCCCCTACATCCTGAAAGG -3'
Sequencing Primer
(F):5'- GGGTATGAACTCGACCATCTCTG -3'
(R):5'- GGCAAGATAGAATCCCTTTTTGGAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation