Incidental Mutation 'R7261:Epha7'
| ID |
564604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha7
|
| Ensembl Gene |
ENSMUSG00000028289 |
| Gene Name |
Eph receptor A7 |
| Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
| MMRRC Submission |
045387-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.501)
|
| Stock # |
R7261 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28813418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 12
(I12N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029964]
[ENSMUST00000080934]
[ENSMUST00000108191]
[ENSMUST00000108194]
|
| AlphaFold |
Q61772 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029964
AA Change: I12N
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: I12N
| 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: I12N
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: I12N
| 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 benign
Transcript: ENSMUST00000108191
AA Change: I12N
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: I12N
| 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: I12N
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: I12N
| 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: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
99% (84/85) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,259,526 (GRCm39) |
F1954L |
probably damaging |
Het |
| Acmsd |
T |
G |
1: 127,687,561 (GRCm39) |
I281R |
probably damaging |
Het |
| Adamts2 |
A |
T |
11: 50,677,424 (GRCm39) |
M742L |
possibly damaging |
Het |
| Adgrf4 |
G |
A |
17: 42,978,326 (GRCm39) |
T339I |
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,976,245 (GRCm39) |
S448P |
probably damaging |
Het |
| Agbl2 |
A |
T |
2: 90,619,288 (GRCm39) |
S38C |
possibly damaging |
Het |
| Akap7 |
C |
T |
10: 25,147,416 (GRCm39) |
D105N |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,885,177 (GRCm39) |
F677L |
probably benign |
Het |
| Atf6b |
G |
T |
17: 34,869,792 (GRCm39) |
V271F |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,588,123 (GRCm39) |
Y114C |
probably damaging |
Het |
| Casp7 |
T |
A |
19: 56,424,765 (GRCm39) |
D161E |
probably benign |
Het |
| Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,437,136 (GRCm39) |
T1758A |
probably benign |
Het |
| Cfap74 |
C |
A |
4: 155,549,831 (GRCm39) |
P155T |
unknown |
Het |
| Champ1 |
A |
G |
8: 13,928,517 (GRCm39) |
D225G |
possibly damaging |
Het |
| Chrng |
A |
T |
1: 87,134,962 (GRCm39) |
|
probably null |
Het |
| Cnksr1 |
T |
C |
4: 133,963,084 (GRCm39) |
|
probably null |
Het |
| Col15a1 |
G |
A |
4: 47,269,088 (GRCm39) |
G582D |
probably benign |
Het |
| Cwc25 |
A |
G |
11: 97,648,585 (GRCm39) |
V81A |
possibly damaging |
Het |
| Ddhd1 |
A |
G |
14: 45,894,688 (GRCm39) |
Y261H |
probably damaging |
Het |
| Defa29 |
A |
G |
8: 21,816,818 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
A |
C |
14: 87,202,893 (GRCm39) |
C666G |
probably benign |
Het |
| Dlx2 |
A |
G |
2: 71,375,019 (GRCm39) |
Y282H |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,113,814 (GRCm39) |
Y369* |
probably null |
Het |
| Dtwd1 |
A |
G |
2: 126,000,424 (GRCm39) |
N120S |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,169,992 (GRCm39) |
S1761N |
probably damaging |
Het |
| Enthd1 |
A |
T |
15: 80,444,416 (GRCm39) |
N46K |
probably damaging |
Het |
| Fam171a2 |
T |
A |
11: 102,328,900 (GRCm39) |
N620Y |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,896,308 (GRCm39) |
S112G |
unknown |
Het |
| Gfpt2 |
A |
T |
11: 49,714,078 (GRCm39) |
E278D |
possibly damaging |
Het |
| Gm3285 |
A |
G |
10: 77,698,244 (GRCm39) |
Q131R |
unknown |
Het |
| Gpcpd1 |
A |
C |
2: 132,410,619 (GRCm39) |
C23G |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,037,954 (GRCm39) |
H228Q |
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,704,415 (GRCm39) |
V500A |
probably benign |
Het |
| Hykk |
T |
G |
9: 54,828,010 (GRCm39) |
M83R |
possibly damaging |
Het |
| Idi1 |
A |
G |
13: 8,936,931 (GRCm39) |
I101V |
probably benign |
Het |
| Irs2 |
A |
T |
8: 11,057,018 (GRCm39) |
H471Q |
possibly damaging |
Het |
| Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,288,385 (GRCm39) |
I1079V |
possibly damaging |
Het |
| Kcnt2 |
G |
A |
1: 140,282,255 (GRCm39) |
R80H |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,358,496 (GRCm39) |
Y178H |
probably damaging |
Het |
| Lgr5 |
A |
T |
10: 115,423,370 (GRCm39) |
L10Q |
possibly damaging |
Het |
| Lnx1 |
G |
T |
5: 74,838,175 (GRCm39) |
S29* |
probably null |
Het |
| Lpcat3 |
T |
A |
6: 124,675,050 (GRCm39) |
F57I |
probably benign |
Het |
| Manf |
T |
C |
9: 106,769,088 (GRCm39) |
T4A |
probably benign |
Het |
| Map2k3 |
G |
A |
11: 60,836,393 (GRCm39) |
|
probably null |
Het |
| Myh14 |
G |
A |
7: 44,273,761 (GRCm39) |
Q1329* |
probably null |
Het |
| Myocd |
T |
C |
11: 65,078,422 (GRCm39) |
S458G |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,187,143 (GRCm39) |
|
probably null |
Het |
| Ndufs8 |
A |
T |
19: 3,961,606 (GRCm39) |
N23K |
probably benign |
Het |
| Nkx6-1 |
T |
C |
5: 101,812,006 (GRCm39) |
K32R |
unknown |
Het |
| Nlrp3 |
T |
G |
11: 59,439,272 (GRCm39) |
V283G |
possibly damaging |
Het |
| Nme3 |
A |
G |
17: 25,116,037 (GRCm39) |
|
probably null |
Het |
| Or1o3 |
A |
G |
17: 37,574,076 (GRCm39) |
F160L |
probably benign |
Het |
| Or8g23 |
C |
T |
9: 38,971,504 (GRCm39) |
V153M |
possibly damaging |
Het |
| Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
| Peg10 |
T |
A |
6: 4,756,591 (GRCm39) |
M389K |
unknown |
Het |
| Phf23 |
G |
T |
11: 69,890,091 (GRCm39) |
C340F |
possibly damaging |
Het |
| Piwil2 |
A |
G |
14: 70,611,860 (GRCm39) |
Y929H |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,369 (GRCm39) |
D203G |
probably damaging |
Het |
| Prss54 |
G |
T |
8: 96,286,367 (GRCm39) |
D235E |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,815,117 (GRCm39) |
M1015K |
possibly damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,838,799 (GRCm39) |
I160T |
probably damaging |
Het |
| Rxylt1 |
A |
T |
10: 121,924,822 (GRCm39) |
D293E |
probably benign |
Het |
| Scn10a |
C |
A |
9: 119,438,790 (GRCm39) |
C1692F |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,648,899 (GRCm39) |
D55N |
probably damaging |
Het |
| Secisbp2 |
G |
T |
13: 51,836,498 (GRCm39) |
V768F |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,261,698 (GRCm39) |
T138A |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,338,780 (GRCm39) |
I426T |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,427,011 (GRCm39) |
V250M |
possibly damaging |
Het |
| Strbp |
A |
T |
2: 37,531,149 (GRCm39) |
|
probably null |
Het |
| Sv2c |
C |
T |
13: 96,224,809 (GRCm39) |
V167M |
probably damaging |
Het |
| Tdpoz1 |
G |
A |
3: 93,577,794 (GRCm39) |
S330L |
not run |
Het |
| Tigd2 |
T |
A |
6: 59,188,052 (GRCm39) |
D306E |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,782,287 (GRCm39) |
P3278S |
possibly damaging |
Het |
| Vdac1 |
A |
T |
11: 52,265,761 (GRCm39) |
K28N |
probably damaging |
Het |
| Vmn1r84 |
A |
T |
7: 12,096,069 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,518 (GRCm39) |
K615* |
probably null |
Het |
| Vps11 |
A |
G |
9: 44,265,800 (GRCm39) |
L493P |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,754,179 (GRCm39) |
I35V |
possibly damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,667 (GRCm39) |
M123K |
possibly damaging |
Het |
| Zfp236 |
A |
T |
18: 82,627,470 (GRCm39) |
D1576E |
possibly 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 |
|
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'- TATTGGAGTGTGGAGCAAGC -3'
(R):5'- CTGGTCGATTGGAACTGAGG -3'
Sequencing Primer
(F):5'- TCGGAGACTTGCAGGCAG -3'
(R):5'- TTGGAACTGAGGGCGGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation