Incidental Mutation 'R6991:Epha7'
| ID |
543829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha7
|
| Ensembl Gene |
ENSMUSG00000028289 |
| Gene Name |
Eph receptor A7 |
| Synonyms |
Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk |
| MMRRC Submission |
045097-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R6991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
28813131-28967499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28821489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 218
(T218I)
|
| 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: T218I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: T218I
| 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: T218I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: T218I
| 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: T218I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: T218I
| 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: T218I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: T218I
| 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: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
A |
7: 27,279,871 (GRCm39) |
V278D |
probably damaging |
Het |
| Akap12 |
G |
T |
10: 4,307,122 (GRCm39) |
E1311* |
probably null |
Het |
| Ankdd1a |
T |
A |
9: 65,415,957 (GRCm39) |
D186V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,869,090 (GRCm39) |
E346G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,696,508 (GRCm39) |
L995S |
possibly damaging |
Het |
| Ccr7 |
A |
C |
11: 99,036,130 (GRCm39) |
V264G |
probably damaging |
Het |
| Col7a1 |
T |
C |
9: 108,812,987 (GRCm39) |
|
probably null |
Het |
| Coq8a |
T |
C |
1: 180,006,633 (GRCm39) |
T132A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,281,690 (GRCm39) |
E2843G |
unknown |
Het |
| Cyp2b10 |
G |
A |
7: 25,616,780 (GRCm39) |
S407N |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,561 (GRCm39) |
V117A |
probably benign |
Het |
| Ddx42 |
G |
A |
11: 106,129,970 (GRCm39) |
V421I |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,601,896 (GRCm39) |
L285* |
probably null |
Het |
| Dip2c |
C |
T |
13: 9,684,868 (GRCm39) |
S1232F |
probably damaging |
Het |
| Dner |
T |
A |
1: 84,454,123 (GRCm39) |
R402* |
probably null |
Het |
| Dpysl3 |
A |
T |
18: 43,486,956 (GRCm39) |
I317N |
probably damaging |
Het |
| Dusp23 |
T |
A |
1: 172,459,224 (GRCm39) |
Y146F |
probably benign |
Het |
| Eef1a2 |
C |
A |
2: 180,790,421 (GRCm39) |
V412L |
possibly damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,334,858 (GRCm39) |
C284S |
probably damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,068 (GRCm39) |
E327V |
probably damaging |
Het |
| Hdhd5 |
A |
G |
6: 120,487,130 (GRCm39) |
V409A |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,323,690 (GRCm39) |
Y236H |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,199,050 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,021,098 (GRCm39) |
V894E |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,023,319 (GRCm39) |
N982S |
probably damaging |
Het |
| Mapk8 |
T |
C |
14: 33,132,841 (GRCm39) |
I32V |
possibly damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mstn |
T |
C |
1: 53,101,100 (GRCm39) |
I59T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,384 (GRCm39) |
E315G |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,803,774 (GRCm39) |
E1515* |
probably null |
Het |
| Npw |
A |
C |
17: 24,877,029 (GRCm39) |
V124G |
probably benign |
Het |
| Nxph3 |
A |
G |
11: 95,402,244 (GRCm39) |
S57P |
probably damaging |
Het |
| Opn4 |
A |
T |
14: 34,315,864 (GRCm39) |
L390M |
probably benign |
Het |
| Or12e10 |
G |
A |
2: 87,640,787 (GRCm39) |
D208N |
possibly damaging |
Het |
| Or52e4 |
T |
C |
7: 104,705,771 (GRCm39) |
I106T |
probably damaging |
Het |
| Or5b95 |
G |
T |
19: 12,658,112 (GRCm39) |
L213F |
probably benign |
Het |
| Or5g23 |
T |
C |
2: 85,438,592 (GRCm39) |
I221V |
possibly damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,295 (GRCm39) |
N298Y |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2g2e |
G |
A |
4: 138,607,986 (GRCm39) |
C62Y |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,752,114 (GRCm39) |
V107M |
probably damaging |
Het |
| Pramel33 |
T |
A |
5: 93,632,233 (GRCm39) |
N107I |
probably damaging |
Het |
| Prorsd1 |
A |
C |
11: 29,464,486 (GRCm39) |
|
probably benign |
Het |
| Prox2 |
A |
G |
12: 85,134,165 (GRCm39) |
L587P |
probably benign |
Het |
| Prr22 |
A |
G |
17: 57,078,345 (GRCm39) |
D166G |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,002,686 (GRCm39) |
R1592Q |
probably benign |
Het |
| Rarg |
C |
G |
15: 102,150,350 (GRCm39) |
R74P |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,194,251 (GRCm39) |
V54A |
probably benign |
Het |
| Rmdn2 |
A |
G |
17: 79,928,739 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Serpina1a |
T |
C |
12: 103,820,092 (GRCm39) |
T385A |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,325,814 (GRCm39) |
Y12C |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,767,091 (GRCm39) |
|
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,808,415 (GRCm39) |
*437W |
probably null |
Het |
| Sugct |
T |
A |
13: 17,728,965 (GRCm39) |
Q220H |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Tnks |
C |
A |
8: 35,301,647 (GRCm39) |
R1274I |
probably damaging |
Het |
| Trp53bp1 |
C |
T |
2: 121,038,521 (GRCm39) |
R1439H |
probably damaging |
Het |
| Vmn1r16 |
G |
T |
6: 57,299,869 (GRCm39) |
S251* |
probably null |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,180 (GRCm39) |
Q226L |
probably damaging |
Het |
| Vmn2r67 |
T |
G |
7: 84,804,953 (GRCm39) |
Y53S |
possibly damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,598,372 (GRCm39) |
N132S |
probably benign |
Het |
| Wdr73 |
T |
G |
7: 80,541,604 (GRCm39) |
T313P |
probably benign |
Het |
| Zfp65 |
C |
T |
13: 67,856,640 (GRCm39) |
R213Q |
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 |
|
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'- TAGACACCATTGCTGCAGATG -3'
(R):5'- TTACGTTCGCAAGTGTCCCC -3'
Sequencing Primer
(F):5'- GCTGCAGATGAAAGTTTCACAC -3'
(R):5'- GCAAGTGTCCCCTTTTTGCTGATAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation