Incidental Mutation 'R7443:Epha6'
| ID |
577123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha6
|
| Ensembl Gene |
ENSMUSG00000055540 |
| Gene Name |
Eph receptor A6 |
| Synonyms |
Ehk2, m-ehk2, Hek12 |
| MMRRC Submission |
045519-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7443 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
59473846-60425894 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59595988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 901
(N901S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068860
AA Change: N901S
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: N901S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
EPH_lbd
|
128 |
301 |
5.95e-125 |
SMART |
|
Pfam:GCC2_GCC3
|
361 |
406 |
1.6e-8 |
PFAM |
|
FN3
|
426 |
518 |
5.83e-3 |
SMART |
|
FN3
|
537 |
618 |
2.19e-7 |
SMART |
|
Pfam:EphA2_TM
|
644 |
722 |
1.8e-22 |
PFAM |
|
TyrKc
|
725 |
1024 |
3.66e-122 |
SMART |
|
SAM
|
1052 |
1119 |
1.24e-22 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display discrete learning and memory deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,452,951 (GRCm39) |
I162T |
probably damaging |
Het |
| Acaca |
G |
A |
11: 84,206,619 (GRCm39) |
S1493N |
probably benign |
Het |
| Arf2 |
T |
A |
11: 103,859,976 (GRCm39) |
M18K |
probably benign |
Het |
| Bag5 |
A |
G |
12: 111,677,161 (GRCm39) |
S221P |
probably damaging |
Het |
| Bcr |
T |
C |
10: 74,978,968 (GRCm39) |
|
probably null |
Het |
| Btg2 |
T |
A |
1: 134,005,433 (GRCm39) |
K51* |
probably null |
Het |
| Chrne |
A |
G |
11: 70,509,092 (GRCm39) |
V130A |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,004,485 (GRCm39) |
V282A |
unknown |
Het |
| Cubn |
T |
A |
2: 13,460,320 (GRCm39) |
D714V |
probably damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,105,756 (GRCm39) |
I153F |
probably damaging |
Het |
| Dph7 |
C |
A |
2: 24,852,505 (GRCm39) |
H5Q |
probably benign |
Het |
| Exosc9 |
C |
A |
3: 36,607,990 (GRCm39) |
P66Q |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,355,038 (GRCm39) |
D42G |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,478,816 (GRCm39) |
|
probably null |
Het |
| Gm3264 |
A |
T |
14: 16,058,304 (GRCm39) |
Y37F |
probably damaging |
Het |
| H2-M10.2 |
T |
A |
17: 36,596,945 (GRCm39) |
I44F |
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,145 (GRCm39) |
F364I |
probably damaging |
Het |
| Hnf4a |
A |
G |
2: 163,400,932 (GRCm39) |
I184V |
probably benign |
Het |
| Ighe |
G |
T |
12: 113,235,785 (GRCm39) |
C180* |
probably null |
Het |
| Iigp1c |
A |
T |
18: 60,379,122 (GRCm39) |
N219I |
probably benign |
Het |
| Klk1b22 |
T |
A |
7: 43,765,534 (GRCm39) |
I162K |
probably benign |
Het |
| Lmo3 |
C |
T |
6: 138,354,220 (GRCm39) |
A104T |
probably damaging |
Het |
| Lsm14a |
A |
G |
7: 34,053,263 (GRCm39) |
V263A |
probably benign |
Het |
| Ltbp1 |
T |
C |
17: 75,671,432 (GRCm39) |
Y1538H |
probably damaging |
Het |
| Ly6g6g |
T |
C |
15: 74,647,249 (GRCm39) |
E32G |
|
Het |
| Map9 |
A |
G |
3: 82,278,663 (GRCm39) |
E221G |
possibly damaging |
Het |
| Mccc2 |
G |
A |
13: 100,130,144 (GRCm39) |
A71V |
possibly damaging |
Het |
| Mdc1 |
T |
A |
17: 36,161,712 (GRCm39) |
V875E |
probably damaging |
Het |
| Mier2 |
A |
T |
10: 79,376,289 (GRCm39) |
I212N |
unknown |
Het |
| Mitd1 |
T |
C |
1: 37,920,117 (GRCm39) |
T164A |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,111,331 (GRCm39) |
I1590T |
probably benign |
Het |
| Mylk2 |
T |
G |
2: 152,753,346 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,829,652 (GRCm39) |
V118E |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,108,873 (GRCm39) |
V1327I |
probably benign |
Het |
| Oas1c |
C |
A |
5: 120,943,484 (GRCm39) |
K218N |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,507 (GRCm39) |
D177G |
probably damaging |
Het |
| Or13a18 |
A |
G |
7: 140,190,961 (GRCm39) |
N286S |
probably damaging |
Het |
| Or1e23 |
A |
T |
11: 73,407,674 (GRCm39) |
V117D |
possibly damaging |
Het |
| Or4a80 |
T |
A |
2: 89,582,285 (GRCm39) |
M296L |
probably benign |
Het |
| Or5g26 |
T |
A |
2: 85,493,912 (GRCm39) |
I289F |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,353 (GRCm39) |
F102I |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,731,633 (GRCm39) |
M618L |
probably benign |
Het |
| P3r3urf |
G |
A |
4: 116,030,664 (GRCm39) |
G23R |
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,231,028 (GRCm39) |
T37S |
probably benign |
Het |
| Plekhg4 |
T |
C |
8: 106,107,499 (GRCm39) |
L1010P |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,943,675 (GRCm39) |
F1921L |
probably damaging |
Het |
| Prss47 |
T |
A |
13: 65,197,303 (GRCm39) |
K144N |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,988,531 (GRCm39) |
K953E |
probably damaging |
Het |
| Rasip1 |
T |
A |
7: 45,288,148 (GRCm39) |
I909N |
probably damaging |
Het |
| Rps5 |
A |
G |
7: 12,656,922 (GRCm39) |
T8A |
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,132,621 (GRCm39) |
K213E |
possibly damaging |
Het |
| Serpinb5 |
T |
C |
1: 106,809,700 (GRCm39) |
F369L |
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,241,297 (GRCm39) |
V306A |
probably benign |
Het |
| Sox13 |
T |
C |
1: 133,312,369 (GRCm39) |
Y465C |
probably damaging |
Het |
| Sox13 |
C |
A |
1: 133,312,311 (GRCm39) |
K484N |
probably damaging |
Het |
| Stx3 |
A |
G |
19: 11,769,208 (GRCm39) |
I39T |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,273,763 (GRCm39) |
Y116C |
probably damaging |
Het |
| Tcp11l1 |
T |
A |
2: 104,514,480 (GRCm39) |
Q429L |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,442 (GRCm39) |
T952I |
probably benign |
Het |
| Trib3 |
T |
C |
2: 152,181,692 (GRCm39) |
H176R |
possibly damaging |
Het |
| Trim12a |
A |
G |
7: 103,950,049 (GRCm39) |
Y297H |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,083,603 (GRCm39) |
V1577A |
probably damaging |
Het |
| Vezf1 |
C |
A |
11: 87,965,489 (GRCm39) |
P244T |
probably damaging |
Het |
| Vmn1r121 |
T |
A |
7: 20,831,945 (GRCm39) |
D165V |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,107 (GRCm39) |
I706F |
probably benign |
Het |
| Vmn2r117 |
C |
T |
17: 23,679,319 (GRCm39) |
C635Y |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,339,909 (GRCm39) |
H22L |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,308,588 (GRCm39) |
M550K |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,451,489 (GRCm39) |
L798P |
probably damaging |
Het |
| Wtap |
C |
T |
17: 13,199,821 (GRCm39) |
G54D |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,917,047 (GRCm39) |
S541G |
|
Het |
| Zkscan3 |
A |
T |
13: 21,572,608 (GRCm39) |
Y341* |
probably null |
Het |
|
| Other mutations in Epha6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Epha6
|
APN |
16 |
59,736,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00849:Epha6
|
APN |
16 |
60,245,474 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00898:Epha6
|
APN |
16 |
59,595,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01353:Epha6
|
APN |
16 |
60,245,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01409:Epha6
|
APN |
16 |
59,476,100 (GRCm39) |
nonsense |
probably null |
|
|
IGL01577:Epha6
|
APN |
16 |
59,777,289 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01653:Epha6
|
APN |
16 |
59,659,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01654:Epha6
|
APN |
16 |
59,659,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01655:Epha6
|
APN |
16 |
59,659,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01657:Epha6
|
APN |
16 |
59,659,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01663:Epha6
|
APN |
16 |
59,596,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01899:Epha6
|
APN |
16 |
59,659,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02272:Epha6
|
APN |
16 |
59,639,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Epha6
|
APN |
16 |
59,880,594 (GRCm39) |
splice site |
probably benign |
|
|
IGL03333:Epha6
|
APN |
16 |
59,503,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rauwulfia
|
UTSW |
16 |
59,502,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Epha6
|
UTSW |
16 |
60,025,915 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0505:Epha6
|
UTSW |
16 |
60,026,095 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1593:Epha6
|
UTSW |
16 |
60,245,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Epha6
|
UTSW |
16 |
59,596,091 (GRCm39) |
missense |
probably null |
1.00 |
|
R1836:Epha6
|
UTSW |
16 |
60,026,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Epha6
|
UTSW |
16 |
59,476,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Epha6
|
UTSW |
16 |
59,503,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2867:Epha6
|
UTSW |
16 |
59,780,659 (GRCm39) |
splice site |
probably null |
|
|
R2867:Epha6
|
UTSW |
16 |
59,780,659 (GRCm39) |
splice site |
probably null |
|
|
R3760:Epha6
|
UTSW |
16 |
60,041,347 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4305:Epha6
|
UTSW |
16 |
60,346,883 (GRCm39) |
splice site |
probably null |
|
|
R4613:Epha6
|
UTSW |
16 |
59,486,960 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4818:Epha6
|
UTSW |
16 |
59,474,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4832:Epha6
|
UTSW |
16 |
59,780,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4895:Epha6
|
UTSW |
16 |
59,486,918 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5014:Epha6
|
UTSW |
16 |
59,486,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5316:Epha6
|
UTSW |
16 |
59,775,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5403:Epha6
|
UTSW |
16 |
59,595,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5417:Epha6
|
UTSW |
16 |
60,245,198 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5418:Epha6
|
UTSW |
16 |
60,245,198 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5678:Epha6
|
UTSW |
16 |
59,639,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Epha6
|
UTSW |
16 |
59,639,357 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5808:Epha6
|
UTSW |
16 |
59,503,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6076:Epha6
|
UTSW |
16 |
60,026,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6146:Epha6
|
UTSW |
16 |
60,245,198 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6212:Epha6
|
UTSW |
16 |
60,245,719 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6242:Epha6
|
UTSW |
16 |
59,503,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6503:Epha6
|
UTSW |
16 |
60,025,984 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6580:Epha6
|
UTSW |
16 |
59,502,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Epha6
|
UTSW |
16 |
60,245,198 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6728:Epha6
|
UTSW |
16 |
60,245,198 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6798:Epha6
|
UTSW |
16 |
60,425,428 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6798:Epha6
|
UTSW |
16 |
60,425,427 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6903:Epha6
|
UTSW |
16 |
60,346,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6999:Epha6
|
UTSW |
16 |
60,245,533 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7058:Epha6
|
UTSW |
16 |
59,503,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Epha6
|
UTSW |
16 |
59,503,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7263:Epha6
|
UTSW |
16 |
59,596,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Epha6
|
UTSW |
16 |
59,736,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7343:Epha6
|
UTSW |
16 |
59,780,793 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7533:Epha6
|
UTSW |
16 |
60,025,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Epha6
|
UTSW |
16 |
59,595,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Epha6
|
UTSW |
16 |
60,026,135 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8321:Epha6
|
UTSW |
16 |
59,736,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8414:Epha6
|
UTSW |
16 |
59,826,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Epha6
|
UTSW |
16 |
60,026,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8926:Epha6
|
UTSW |
16 |
59,659,662 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9166:Epha6
|
UTSW |
16 |
60,425,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9265:Epha6
|
UTSW |
16 |
59,476,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Epha6
|
UTSW |
16 |
60,245,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Epha6
|
UTSW |
16 |
60,025,850 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9742:Epha6
|
UTSW |
16 |
60,026,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Epha6
|
UTSW |
16 |
59,474,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Epha6
|
UTSW |
16 |
59,474,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAACAACGACCCTTGGAG -3'
(R):5'- CACGCTATTAAGATCAGGCAGC -3'
Sequencing Primer
(F):5'- GACCCTTGGAGCCTTCAAATATAG -3'
(R):5'- ATCAGGCAGCTAATAGGTGTGATTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation