Incidental Mutation 'R4957:Epha7'
| ID |
381633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha7
|
| Ensembl Gene |
ENSMUSG00000028289 |
| Gene Name |
Eph receptor A7 |
| Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
| MMRRC Submission |
042554-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R4957 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28871892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 407
(A407V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000080934]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
| AlphaFold |
Q61772 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029964
AA Change: A407V
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: A407V
| 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
AA Change: A407V
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: A407V
| 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: A407V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: A407V
| 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: A407V
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: A407V
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149030
|
| Meta Mutation Damage Score |
0.1709 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (80/81) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 6820408C15Rik |
T |
A |
2: 152,286,013 (GRCm39) |
V342D |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,231,786 (GRCm39) |
G101R |
probably damaging |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,448,303 (GRCm39) |
H8R |
probably damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,404,027 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
G |
18: 60,942,109 (GRCm39) |
N113D |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,035,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Clptm1l |
T |
A |
13: 73,759,315 (GRCm39) |
I245N |
possibly damaging |
Het |
| Clptm1l |
T |
C |
13: 73,760,547 (GRCm39) |
I310T |
probably damaging |
Het |
| Creb5 |
A |
T |
6: 53,670,907 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,935,231 (GRCm39) |
Q460R |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,965,124 (GRCm39) |
I2306N |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Elovl1 |
A |
T |
4: 118,289,120 (GRCm39) |
H215L |
probably damaging |
Het |
| Enkd1 |
A |
G |
8: 106,431,121 (GRCm39) |
I202T |
probably benign |
Het |
| Ercc3 |
G |
T |
18: 32,376,170 (GRCm39) |
G130W |
probably damaging |
Het |
| Fbxl8 |
A |
G |
8: 105,994,827 (GRCm39) |
E113G |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,273,099 (GRCm39) |
N339K |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,678,897 (GRCm39) |
D240N |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,063,954 (GRCm39) |
S105G |
probably benign |
Het |
| Glra1 |
T |
A |
11: 55,418,224 (GRCm39) |
I257F |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,687,503 (GRCm39) |
P354S |
probably damaging |
Het |
| Gpr15 |
G |
T |
16: 58,538,537 (GRCm39) |
A184E |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,824 (GRCm39) |
G745E |
probably damaging |
Het |
| H2-T10 |
T |
A |
17: 36,428,308 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
C |
A |
11: 102,096,082 (GRCm39) |
|
probably benign |
Het |
| Ift22 |
G |
A |
5: 136,937,070 (GRCm39) |
|
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,324,750 (GRCm39) |
E34G |
unknown |
Het |
| Itga11 |
A |
T |
9: 62,674,930 (GRCm39) |
T821S |
probably benign |
Het |
| Lmod2 |
T |
C |
6: 24,603,871 (GRCm39) |
V282A |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,531,572 (GRCm39) |
K262R |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,250,910 (GRCm39) |
|
probably benign |
Het |
| Mnat1 |
A |
G |
12: 73,170,652 (GRCm39) |
Y14C |
probably damaging |
Het |
| Mtdh |
A |
T |
15: 34,083,281 (GRCm39) |
T34S |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 126,963,177 (GRCm39) |
D352G |
possibly damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4f17-ps1 |
C |
A |
2: 111,358,569 (GRCm39) |
N321K |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,854 (GRCm39) |
Y257N |
probably damaging |
Het |
| Or9g8 |
T |
C |
2: 85,607,459 (GRCm39) |
F177S |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,837 (GRCm39) |
D738E |
possibly damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,130,980 (GRCm39) |
R825Q |
probably benign |
Het |
| Pnliprp2 |
C |
T |
19: 58,763,577 (GRCm39) |
L409F |
possibly damaging |
Het |
| Prlr |
G |
T |
15: 10,319,281 (GRCm39) |
C70F |
probably damaging |
Het |
| Ptpn14 |
C |
T |
1: 189,583,469 (GRCm39) |
T772I |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,799,966 (GRCm39) |
Q927R |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,460 (GRCm39) |
E634G |
probably benign |
Het |
| Scart1 |
T |
C |
7: 139,808,435 (GRCm39) |
V782A |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,333,232 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
T |
14: 70,553,260 (GRCm39) |
S158R |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,365,194 (GRCm39) |
T176S |
probably benign |
Het |
| Srsf10 |
T |
C |
4: 135,583,541 (GRCm39) |
S2P |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,173,705 (GRCm39) |
C50S |
probably damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,919,864 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,223 (GRCm39) |
H390Q |
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,144,185 (GRCm39) |
|
probably null |
Het |
| Tnc |
G |
C |
4: 63,894,793 (GRCm39) |
P1531R |
probably damaging |
Het |
| Tnfrsf1b |
C |
A |
4: 144,973,327 (GRCm39) |
Q15H |
probably damaging |
Het |
| Tnfrsf1b |
T |
G |
4: 144,973,328 (GRCm39) |
Q15P |
possibly damaging |
Het |
| Tssk4 |
A |
T |
14: 55,889,266 (GRCm39) |
E264V |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,365,274 (GRCm39) |
V296I |
probably benign |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,947,129 (GRCm39) |
E541A |
probably benign |
Het |
| Ybx1 |
A |
T |
4: 119,136,135 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
A |
11: 58,782,057 (GRCm39) |
Y235F |
possibly damaging |
Het |
| Zfp422 |
T |
A |
6: 116,603,904 (GRCm39) |
K32* |
probably null |
Het |
| Zpbp2 |
T |
A |
11: 98,442,150 (GRCm39) |
|
probably null |
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 |
|
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'- CTGTAAGTTTGGAATGGAGTCCTC -3'
(R):5'- CTTTCCCCACCAGAACTATGG -3'
Sequencing Primer
(F):5'- AGTCCTCCGGCTGACAAC -3'
(R):5'- GCAGTGGCATTAACTAAACACG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation