Incidental Mutation 'R6242:Epha6'
ID |
505333 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha6
|
Ensembl Gene |
ENSMUSG00000055540 |
Gene Name |
Eph receptor A6 |
Synonyms |
Ehk2, m-ehk2, Hek12 |
MMRRC Submission |
044434-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6242 (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 T
at 59503025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 961
(W961R)
|
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: W961R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066734 Gene: ENSMUSG00000055540 AA Change: W961R
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
99% (75/76) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
G |
T |
15: 98,501,896 (GRCm39) |
C239* |
probably null |
Het |
Akr1c6 |
A |
G |
13: 4,486,361 (GRCm39) |
Q56R |
probably benign |
Het |
Apaf1 |
T |
A |
10: 90,898,025 (GRCm39) |
D244V |
probably damaging |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Arhgef11 |
C |
A |
3: 87,635,385 (GRCm39) |
A898E |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,655,433 (GRCm39) |
N1148Y |
probably damaging |
Het |
Atf6 |
T |
A |
1: 170,621,545 (GRCm39) |
Q492L |
possibly damaging |
Het |
Atrnl1 |
G |
T |
19: 57,630,910 (GRCm39) |
V226F |
probably benign |
Het |
Cfap68 |
C |
T |
9: 50,675,215 (GRCm39) |
E148K |
probably benign |
Het |
Cntnap1 |
A |
T |
11: 101,073,364 (GRCm39) |
Y615F |
probably damaging |
Het |
Crybg3 |
T |
C |
16: 59,376,053 (GRCm39) |
T1734A |
probably benign |
Het |
Ctdp1 |
A |
C |
18: 80,502,427 (GRCm39) |
V161G |
probably damaging |
Het |
Cyp4a30b |
T |
A |
4: 115,311,587 (GRCm39) |
V85E |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Fam114a1 |
A |
G |
5: 65,188,695 (GRCm39) |
E475G |
probably damaging |
Het |
Fam186a |
A |
G |
15: 99,837,788 (GRCm39) |
Y2819H |
unknown |
Het |
Fancm |
A |
T |
12: 65,163,216 (GRCm39) |
Q1460L |
probably benign |
Het |
Fancm |
C |
A |
12: 65,163,223 (GRCm39) |
N1462K |
probably benign |
Het |
Fgf14 |
T |
C |
14: 124,913,940 (GRCm39) |
K64E |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
Garem1 |
C |
G |
18: 21,262,229 (GRCm39) |
V862L |
possibly damaging |
Het |
Grin3b |
G |
A |
10: 79,812,013 (GRCm39) |
G814R |
probably damaging |
Het |
Hacd4 |
A |
G |
4: 88,332,524 (GRCm39) |
S226P |
probably benign |
Het |
Htt |
A |
G |
5: 35,003,356 (GRCm39) |
Y1277C |
probably damaging |
Het |
Igkv1-131 |
T |
A |
6: 67,743,062 (GRCm39) |
D107V |
probably damaging |
Het |
Iqcc |
T |
C |
4: 129,510,639 (GRCm39) |
D292G |
probably damaging |
Het |
Krtap13 |
C |
T |
16: 88,548,384 (GRCm39) |
V35I |
probably damaging |
Het |
Liat1 |
T |
C |
11: 75,890,981 (GRCm39) |
S32P |
probably damaging |
Het |
Lrrc59 |
G |
T |
11: 94,525,809 (GRCm39) |
L132F |
possibly damaging |
Het |
Mcub |
T |
C |
3: 129,709,444 (GRCm39) |
S290G |
probably benign |
Het |
Mettl4 |
A |
G |
17: 95,042,802 (GRCm39) |
W345R |
probably damaging |
Het |
Msgn1 |
G |
A |
12: 11,258,526 (GRCm39) |
R142W |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,180,893 (GRCm39) |
I761V |
probably benign |
Het |
Neb |
T |
A |
2: 52,066,824 (GRCm39) |
K5879M |
probably damaging |
Het |
Nkd2 |
C |
T |
13: 73,970,905 (GRCm39) |
V226M |
probably damaging |
Het |
Nt5el |
T |
A |
13: 105,246,048 (GRCm39) |
V203E |
probably benign |
Het |
Or51a24 |
T |
G |
7: 103,733,771 (GRCm39) |
H172P |
possibly damaging |
Het |
Or5b106 |
T |
A |
19: 13,123,450 (GRCm39) |
H191L |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,832,856 (GRCm39) |
L393* |
probably null |
Het |
Pcdhgb6 |
G |
A |
18: 37,876,608 (GRCm39) |
V439I |
probably benign |
Het |
Pde1a |
T |
A |
2: 79,959,136 (GRCm39) |
T15S |
probably benign |
Het |
Pgr |
T |
A |
9: 8,900,980 (GRCm39) |
I171N |
probably benign |
Het |
Podxl |
T |
A |
6: 31,503,180 (GRCm39) |
D296V |
probably benign |
Het |
Polr3e |
A |
T |
7: 120,539,690 (GRCm39) |
E479V |
possibly damaging |
Het |
Prdm10 |
A |
T |
9: 31,252,548 (GRCm39) |
H427L |
possibly damaging |
Het |
Prl5a1 |
A |
T |
13: 28,326,538 (GRCm39) |
K5* |
probably null |
Het |
Prph |
A |
G |
15: 98,955,004 (GRCm39) |
S325G |
probably damaging |
Het |
Rabl2 |
C |
A |
15: 89,468,555 (GRCm39) |
W49L |
probably benign |
Het |
Rbbp8nl |
T |
A |
2: 179,922,767 (GRCm39) |
I209F |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Scn7a |
T |
C |
2: 66,531,110 (GRCm39) |
D589G |
probably benign |
Het |
Sdr42e1 |
A |
T |
8: 118,389,936 (GRCm39) |
L235Q |
possibly damaging |
Het |
Serpina3a |
T |
C |
12: 104,082,260 (GRCm39) |
M11T |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,909,184 (GRCm39) |
K399* |
probably null |
Het |
Slco4c1 |
T |
A |
1: 96,767,008 (GRCm39) |
T337S |
probably damaging |
Het |
Spc25 |
A |
T |
2: 69,027,555 (GRCm39) |
F112L |
probably damaging |
Het |
Swt1 |
A |
G |
1: 151,283,365 (GRCm39) |
S331P |
probably benign |
Het |
Tab1 |
A |
T |
15: 80,039,971 (GRCm39) |
K264* |
probably null |
Het |
Tagln3 |
T |
A |
16: 45,544,701 (GRCm39) |
|
probably benign |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tbck |
A |
G |
3: 132,400,189 (GRCm39) |
D80G |
probably benign |
Het |
Tcim |
A |
T |
8: 24,928,911 (GRCm39) |
M1K |
probably null |
Het |
Thap2 |
A |
G |
10: 115,208,831 (GRCm39) |
S37P |
unknown |
Het |
Tjp2 |
A |
T |
19: 24,076,967 (GRCm39) |
|
probably null |
Het |
Tln1 |
G |
A |
4: 43,533,145 (GRCm39) |
S2390L |
probably damaging |
Het |
Trpm5 |
T |
G |
7: 142,626,919 (GRCm39) |
I1101L |
probably benign |
Het |
Ttc3 |
T |
G |
16: 94,243,554 (GRCm39) |
M831R |
probably benign |
Het |
Tulp3 |
A |
G |
6: 128,300,050 (GRCm39) |
C459R |
probably damaging |
Het |
Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
Unc13b |
A |
T |
4: 43,165,800 (GRCm39) |
T195S |
possibly damaging |
Het |
Urgcp |
A |
G |
11: 5,666,691 (GRCm39) |
L549P |
probably benign |
Het |
Usp10 |
G |
T |
8: 120,668,577 (GRCm39) |
A293S |
probably benign |
Het |
Vmn2r23 |
A |
G |
6: 123,681,359 (GRCm39) |
E89G |
possibly damaging |
Het |
Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
Wif1 |
T |
C |
10: 120,870,366 (GRCm39) |
I40T |
possibly damaging |
Het |
Zmynd8 |
G |
A |
2: 165,740,867 (GRCm39) |
R6C |
possibly 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 |
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 |
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'- AGCTCACCCAGTCAACTAGG -3'
(R):5'- AGGCAAACAAGAGACCTCTG -3'
Sequencing Primer
(F):5'- GTCAACTAGGGCTAGAATCTTCTGC -3'
(R):5'- GGCAAACAAGAGACCTCTGAACAG -3'
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Posted On |
2018-02-28 |