Incidental Mutation 'R9166:Epha6'
| ID |
696096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha6
|
| Ensembl Gene |
ENSMUSG00000055540 |
| Gene Name |
Eph receptor A6 |
| Synonyms |
Ehk2, m-ehk2, Hek12 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59473846-60425894 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60425238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 125
(V125A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068860
AA Change: V125A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: V125A
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,853,046 (GRCm39) |
L30P |
possibly damaging |
Het |
| Adgrb1 |
A |
C |
15: 74,420,475 (GRCm39) |
M875L |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ankrd13c |
T |
A |
3: 157,705,357 (GRCm39) |
S427T |
probably benign |
Het |
| Aopep |
G |
A |
13: 63,318,862 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
A |
C |
13: 94,608,236 (GRCm39) |
Y569S |
probably damaging |
Het |
| Bco2 |
A |
G |
9: 50,447,667 (GRCm39) |
V352A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,516 (GRCm39) |
N2630K |
probably damaging |
Het |
| Cacnb1 |
T |
A |
11: 97,910,534 (GRCm39) |
D48V |
probably damaging |
Het |
| Cdr2l |
C |
A |
11: 115,283,537 (GRCm39) |
Q132K |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,554,572 (GRCm39) |
M377T |
probably benign |
Het |
| Coq7 |
T |
C |
7: 118,109,365 (GRCm39) |
T228A |
unknown |
Het |
| D7Ertd443e |
G |
A |
7: 133,900,048 (GRCm39) |
T438I |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,066,589 (GRCm39) |
E15K |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,651,206 (GRCm39) |
R109Q |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,126,959 (GRCm39) |
V1359A |
probably damaging |
Het |
| E2f7 |
C |
T |
10: 110,618,085 (GRCm39) |
P717S |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,132,438 (GRCm39) |
D669G |
probably benign |
Het |
| Erg |
G |
T |
16: 95,190,807 (GRCm39) |
H119N |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,595,252 (GRCm39) |
S371G |
probably benign |
Het |
| Fancg |
G |
C |
4: 43,006,800 (GRCm39) |
Q297E |
probably benign |
Het |
| Gas2 |
A |
G |
7: 51,586,323 (GRCm39) |
E145G |
possibly damaging |
Het |
| Gas7 |
T |
C |
11: 67,561,446 (GRCm39) |
V218A |
probably benign |
Het |
| Gm9970 |
A |
G |
5: 31,398,345 (GRCm39) |
S78P |
unknown |
Het |
| Hectd4 |
A |
C |
5: 121,446,690 (GRCm39) |
D259A |
probably damaging |
Het |
| Hoxb2 |
T |
G |
11: 96,244,339 (GRCm39) |
S317A |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,270,185 (GRCm39) |
L2381P |
probably damaging |
Het |
| Irf4 |
A |
T |
13: 30,941,484 (GRCm39) |
H280L |
probably benign |
Het |
| Irf7 |
A |
G |
7: 140,844,666 (GRCm39) |
V142A |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,190,928 (GRCm39) |
I94V |
probably benign |
Het |
| Kera |
T |
A |
10: 97,448,830 (GRCm39) |
I350K |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,952 (GRCm39) |
S176P |
probably benign |
Het |
| Lrrc59 |
C |
A |
11: 94,522,959 (GRCm39) |
T53N |
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,945,024 (GRCm39) |
Y83H |
probably damaging |
Het |
| Myef2l |
A |
G |
3: 10,153,849 (GRCm39) |
N206S |
probably benign |
Het |
| Neil3 |
A |
C |
8: 54,058,722 (GRCm39) |
M273R |
probably damaging |
Het |
| Ngfr |
A |
T |
11: 95,465,047 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nudc |
T |
C |
4: 133,273,165 (GRCm39) |
D11G |
probably damaging |
Het |
| Or2t1 |
A |
T |
14: 14,329,059 (GRCm38) |
D316V |
probably benign |
Het |
| Or4a81 |
T |
A |
2: 89,619,291 (GRCm39) |
N135I |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pik3cg |
C |
T |
12: 32,242,213 (GRCm39) |
G966R |
probably damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,920,980 (GRCm39) |
T573A |
probably damaging |
Het |
| Ppp2r5a |
C |
A |
1: 191,128,504 (GRCm39) |
R37L |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,387,340 (GRCm39) |
F1207S |
possibly damaging |
Het |
| Prtg |
A |
T |
9: 72,764,107 (GRCm39) |
I527F |
probably damaging |
Het |
| Pspc1 |
A |
G |
14: 56,999,305 (GRCm39) |
M317T |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,525,180 (GRCm39) |
V768I |
probably benign |
Het |
| Ptx4 |
A |
G |
17: 25,343,546 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
T |
C |
2: 158,274,842 (GRCm39) |
|
probably null |
Het |
| Rhobtb2 |
C |
A |
14: 70,034,703 (GRCm39) |
G174V |
probably damaging |
Het |
| Sdad1 |
G |
T |
5: 92,446,080 (GRCm39) |
S285* |
probably null |
Het |
| Sema4f |
G |
T |
6: 82,890,626 (GRCm39) |
S727* |
probably null |
Het |
| Sik1 |
A |
G |
17: 32,069,727 (GRCm39) |
F241L |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,662,096 (GRCm39) |
S279P |
probably benign |
Het |
| Slco4a1 |
A |
G |
2: 180,106,034 (GRCm39) |
E72G |
probably benign |
Het |
| Smok3c |
A |
T |
5: 138,063,781 (GRCm39) |
T423S |
possibly damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,784,811 (GRCm39) |
V1078A |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,673,776 (GRCm39) |
V337A |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,173,933 (GRCm39) |
G1443V |
probably damaging |
Het |
| Ticam2 |
A |
T |
18: 46,694,048 (GRCm39) |
L13H |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,786,624 (GRCm39) |
E1562G |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,074 (GRCm39) |
K742N |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,142,751 (GRCm39) |
V255E |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,608 (GRCm39) |
E2G |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,452,091 (GRCm39) |
T353S |
probably benign |
Het |
| Vim |
T |
C |
2: 13,579,556 (GRCm39) |
V105A |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,431 (GRCm39) |
V404E |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,941,874 (GRCm39) |
P1115L |
probably damaging |
Het |
| Wfdc12 |
G |
T |
2: 164,032,193 (GRCm39) |
C32* |
probably null |
Het |
| Zfp750 |
T |
A |
11: 121,403,980 (GRCm39) |
R298S |
probably damaging |
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 |
|
R7443:Epha6
|
UTSW |
16 |
59,595,988 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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'- TGAAGAGATCAAAGCCCCAG -3'
(R):5'- TGGTGGATGCAATTCCCCTC -3'
Sequencing Primer
(F):5'- GGGACAAAGTTACCTGCA -3'
(R):5'- AGCATCGTCCCCGCAAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation