Incidental Mutation 'R9322:Epha6'
| ID |
706286 |
| 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 # |
R9322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
59473846-60425894 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60245118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 360
(S360R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068860
AA Change: S360R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: S360R
| 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: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,192,331 (GRCm39) |
V727A |
probably damaging |
Het |
| Arhgef33 |
T |
A |
17: 80,677,818 (GRCm39) |
L455* |
probably null |
Het |
| Arnt |
T |
C |
3: 95,397,929 (GRCm39) |
S591P |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,446,462 (GRCm39) |
M335V |
probably benign |
Het |
| Atp1a2 |
A |
G |
1: 172,107,625 (GRCm39) |
S665P |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,303,333 (GRCm39) |
N148S |
probably damaging |
Het |
| Ccdc121rt3 |
T |
A |
5: 112,503,272 (GRCm39) |
Y144F |
probably damaging |
Het |
| Ccdc9 |
T |
C |
7: 16,012,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Ciao3 |
G |
C |
17: 25,998,548 (GRCm39) |
Q217H |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,978 (GRCm39) |
Y332H |
probably damaging |
Het |
| Csrnp1 |
T |
C |
9: 119,801,853 (GRCm39) |
E402G |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,189,001 (GRCm39) |
I1455N |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,492,934 (GRCm39) |
I1232F |
possibly damaging |
Het |
| Dsn1 |
C |
T |
2: 156,843,669 (GRCm39) |
V144I |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,765,199 (GRCm39) |
E2501V |
probably benign |
Het |
| Fasl |
A |
T |
1: 161,609,512 (GRCm39) |
L158Q |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,727,014 (GRCm39) |
V535E |
probably benign |
Het |
| Fmo5 |
A |
T |
3: 97,546,190 (GRCm39) |
K168* |
probably null |
Het |
| Gm5157 |
T |
G |
7: 20,919,431 (GRCm39) |
K37N |
probably benign |
Het |
| Grm8 |
T |
A |
6: 27,363,728 (GRCm39) |
I596F |
possibly damaging |
Het |
| Il23a |
T |
C |
10: 128,132,990 (GRCm39) |
E123G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,226,587 (GRCm39) |
T1386A |
probably benign |
Het |
| Krt79 |
T |
A |
15: 101,840,245 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Lhx4 |
A |
G |
1: 155,578,353 (GRCm39) |
I263T |
probably benign |
Het |
| Med4 |
T |
C |
14: 73,747,601 (GRCm39) |
L34P |
probably damaging |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Mief2 |
A |
T |
11: 60,621,844 (GRCm39) |
H138L |
possibly damaging |
Het |
| Nat3 |
A |
T |
8: 68,000,162 (GRCm39) |
K14* |
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,297,818 (GRCm39) |
I1216N |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,118 (GRCm39) |
E461G |
probably benign |
Het |
| Or11h23 |
C |
A |
14: 50,948,507 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5aq7 |
T |
C |
2: 86,938,561 (GRCm39) |
T57A |
probably damaging |
Het |
| Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
| Pdha2 |
C |
A |
3: 140,916,550 (GRCm39) |
M319I |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,227,494 (GRCm39) |
V43A |
possibly damaging |
Het |
| Psd |
T |
A |
19: 46,301,880 (GRCm39) |
E902V |
probably damaging |
Het |
| Psme3 |
A |
C |
11: 101,211,437 (GRCm39) |
H198P |
probably damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,027,003 (GRCm39) |
D219G |
possibly damaging |
Het |
| Scn1b |
C |
A |
7: 30,824,517 (GRCm39) |
W57L |
probably damaging |
Het |
| Sfrp2 |
T |
C |
3: 83,674,006 (GRCm39) |
I53T |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,066,439 (GRCm39) |
|
probably null |
Het |
| Slc18a3 |
A |
G |
14: 32,185,282 (GRCm39) |
I367T |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,258,246 (GRCm39) |
R499W |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,865,747 (GRCm39) |
D75G |
probably benign |
Het |
| Trim67 |
C |
A |
8: 125,549,967 (GRCm39) |
Y532* |
probably null |
Het |
| Ttc16 |
C |
T |
2: 32,664,952 (GRCm39) |
|
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,517,124 (GRCm39) |
S487T |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,087 (GRCm39) |
T125A |
probably benign |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,498 (GRCm39) |
T660A |
possibly damaging |
Het |
| Zer1 |
A |
T |
2: 30,000,923 (GRCm39) |
V166D |
probably benign |
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 |
|
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 |
|
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'- ACAGAGCTTGACGTTGTTTTC -3'
(R):5'- AAAATGCCCCTTCACCGTG -3'
Sequencing Primer
(F):5'- TGAGGAAGCACAGTAGCAT -3'
(R):5'- TTCACCGTGCGGAACTTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation