Incidental Mutation 'R8926:Epha6'
| ID |
679573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha6
|
| Ensembl Gene |
ENSMUSG00000055540 |
| Gene Name |
Eph receptor A6 |
| Synonyms |
Ehk2, m-ehk2, Hek12 |
| MMRRC Submission |
068770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8926 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59473846-60425894 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59659662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 819
(I819F)
|
| 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: I819F
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: I819F
| 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: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
A |
5: 30,405,446 (GRCm39) |
D296V |
possibly damaging |
Het |
| Ahi1 |
T |
C |
10: 20,930,982 (GRCm39) |
Y941H |
probably damaging |
Het |
| Bscl2 |
T |
C |
19: 8,825,348 (GRCm39) |
|
probably null |
Het |
| C1s1 |
C |
T |
6: 124,510,325 (GRCm39) |
G374D |
probably damaging |
Het |
| C1s1 |
T |
C |
6: 124,513,322 (GRCm39) |
D235G |
possibly damaging |
Het |
| Cacna1e |
C |
T |
1: 154,577,080 (GRCm39) |
V106I |
possibly damaging |
Het |
| Ccdc97 |
G |
A |
7: 25,412,494 (GRCm39) |
A316V |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,751,841 (GRCm39) |
V431A |
probably benign |
Het |
| Cftr |
C |
T |
6: 18,268,003 (GRCm39) |
S684L |
possibly damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,535 (GRCm39) |
N272I |
probably benign |
Het |
| Csf2rb |
C |
T |
15: 78,224,749 (GRCm39) |
S169L |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,338,404 (GRCm39) |
|
probably benign |
Het |
| Cyp11b1 |
T |
A |
15: 74,711,087 (GRCm39) |
Y197F |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,588,361 (GRCm39) |
K288E |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,908,734 (GRCm39) |
W1116R |
probably damaging |
Het |
| Dclre1c |
A |
T |
2: 3,434,827 (GRCm39) |
D97V |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,726,169 (GRCm39) |
R323G |
probably benign |
Het |
| Fam118b |
A |
T |
9: 35,146,732 (GRCm39) |
L45Q |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,869 (GRCm39) |
C1611Y |
probably damaging |
Het |
| Fsd1l |
T |
G |
4: 53,686,493 (GRCm39) |
I302S |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,823,927 (GRCm39) |
D6553E |
possibly damaging |
Het |
| Gje1 |
C |
T |
10: 14,592,435 (GRCm39) |
V116I |
probably benign |
Het |
| H2-T9 |
T |
A |
17: 36,420,626 (GRCm39) |
|
probably null |
Het |
| Helz |
C |
A |
11: 107,563,509 (GRCm39) |
H1650N |
unknown |
Het |
| Hltf |
T |
G |
3: 20,123,323 (GRCm39) |
|
probably null |
Het |
| Intu |
T |
A |
3: 40,608,139 (GRCm39) |
D50E |
possibly damaging |
Het |
| Ipo9 |
C |
T |
1: 135,313,952 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,835,783 (GRCm39) |
T1217I |
probably benign |
Het |
| Lct |
T |
A |
1: 128,228,148 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Lpgat1 |
T |
C |
1: 191,492,120 (GRCm39) |
L202P |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,381,671 (GRCm39) |
R3801H |
probably benign |
Het |
| Mtfmt |
T |
A |
9: 65,344,414 (GRCm39) |
Y113* |
probably null |
Het |
| Myh7 |
A |
G |
14: 55,222,533 (GRCm39) |
F801L |
probably benign |
Het |
| Myl4 |
G |
T |
11: 104,476,572 (GRCm39) |
M191I |
probably benign |
Het |
| Myo3a |
C |
A |
2: 22,401,074 (GRCm39) |
N614K |
possibly damaging |
Het |
| Naa30 |
A |
G |
14: 49,425,059 (GRCm39) |
N337S |
probably benign |
Het |
| Nol10 |
C |
A |
12: 17,466,871 (GRCm39) |
Q584K |
probably benign |
Het |
| Nup210 |
C |
A |
6: 91,030,434 (GRCm39) |
G919C |
probably damaging |
Het |
| Or13a20 |
G |
A |
7: 140,232,113 (GRCm39) |
V74M |
probably benign |
Het |
| Or5p57 |
G |
A |
7: 107,665,513 (GRCm39) |
T134I |
probably benign |
Het |
| Pdcd6ip |
T |
A |
9: 113,514,493 (GRCm39) |
Q244L |
probably benign |
Het |
| Pde4d |
T |
C |
13: 110,074,625 (GRCm39) |
V410A |
probably benign |
Het |
| Plekha7 |
A |
T |
7: 115,756,223 (GRCm39) |
|
probably benign |
Het |
| Plpp4 |
A |
T |
7: 128,923,211 (GRCm39) |
|
probably null |
Het |
| Poln |
T |
C |
5: 34,286,769 (GRCm39) |
N133S |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,920,986 (GRCm39) |
N575D |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,159,930 (GRCm39) |
|
probably null |
Het |
| Prkar2b |
A |
G |
12: 32,111,080 (GRCm39) |
M1T |
probably null |
Het |
| Ptcd3 |
A |
G |
6: 71,869,464 (GRCm39) |
F378S |
probably damaging |
Het |
| Rab27b |
C |
A |
18: 70,129,144 (GRCm39) |
R50L |
probably damaging |
Het |
| Rpl7a |
T |
G |
2: 26,801,557 (GRCm39) |
F83C |
probably damaging |
Het |
| Slc8a2 |
A |
G |
7: 15,868,194 (GRCm39) |
E142G |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,619,928 (GRCm39) |
I85L |
possibly damaging |
Het |
| Sorcs1 |
C |
A |
19: 50,241,096 (GRCm39) |
W430L |
possibly damaging |
Het |
| Spaca6 |
T |
A |
17: 18,058,790 (GRCm39) |
|
probably null |
Het |
| Synrg |
C |
A |
11: 83,881,567 (GRCm39) |
A301E |
possibly damaging |
Het |
| Tcl1 |
G |
A |
12: 105,184,969 (GRCm39) |
|
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,153,780 (GRCm39) |
V158M |
probably damaging |
Het |
| Tex2 |
T |
G |
11: 106,459,230 (GRCm39) |
T67P |
|
Het |
| Tlr9 |
A |
T |
9: 106,103,213 (GRCm39) |
I835L |
probably benign |
Het |
| Tmem185b |
G |
C |
1: 119,454,406 (GRCm39) |
V56L |
probably benign |
Het |
| Tssk2 |
C |
T |
16: 17,717,562 (GRCm39) |
R322W |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,571,735 (GRCm39) |
Y26386F |
probably benign |
Het |
| Txndc16 |
C |
A |
14: 45,406,771 (GRCm39) |
R228I |
possibly damaging |
Het |
| Uspl1 |
T |
G |
5: 149,138,701 (GRCm39) |
|
probably null |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,874 (GRCm39) |
H222L |
possibly damaging |
Het |
| Vnn1 |
T |
G |
10: 23,776,587 (GRCm39) |
S313A |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,374,887 (GRCm39) |
L218Q |
possibly damaging |
Het |
| Znrf1 |
T |
G |
8: 112,264,143 (GRCm39) |
L124R |
probably damaging |
Het |
| Zzz3 |
A |
T |
3: 152,133,529 (GRCm39) |
N196Y |
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 |
|
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 |
|
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'- GCTGCATTGCAAAGAGTCATTTAC -3'
(R):5'- TCAATGGTCTTACAAATCTATGGGG -3'
Sequencing Primer
(F):5'- GCATTGCAAAGAGTCATTTACACTTC -3'
(R):5'- GGGGGAAAACAATAGCCCAAATCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation