Incidental Mutation 'R7602:Epha6'
| ID |
588089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha6
|
| Ensembl Gene |
ENSMUSG00000055540 |
| Gene Name |
Eph receptor A6 |
| Synonyms |
Ehk2, m-ehk2, Hek12 |
| MMRRC Submission |
045674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7602 (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 C
at 59595931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 920
(D920G)
|
| 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: D920G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: D920G
| 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 |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
A |
T |
1: 151,856,266 (GRCm39) |
Y34N |
probably damaging |
Het |
| A2m |
T |
C |
6: 121,618,966 (GRCm39) |
V237A |
probably damaging |
Het |
| A2m |
A |
T |
6: 121,647,895 (GRCm39) |
D1129V |
possibly damaging |
Het |
| Aadacl2fm3 |
T |
C |
3: 59,784,697 (GRCm39) |
I390T |
probably benign |
Het |
| Abca7 |
A |
G |
10: 79,833,846 (GRCm39) |
|
probably null |
Het |
| Adam34l |
C |
T |
8: 44,079,703 (GRCm39) |
G174R |
probably damaging |
Het |
| Ap3m2 |
T |
C |
8: 23,282,770 (GRCm39) |
N256S |
probably benign |
Het |
| Atr |
C |
T |
9: 95,789,436 (GRCm39) |
H1531Y |
possibly damaging |
Het |
| Carmil3 |
C |
T |
14: 55,738,965 (GRCm39) |
A873V |
probably null |
Het |
| Casp8 |
A |
C |
1: 58,872,898 (GRCm39) |
K258T |
probably benign |
Het |
| Cast |
A |
G |
13: 74,885,084 (GRCm39) |
S222P |
probably benign |
Het |
| Cpsf7 |
C |
T |
19: 10,512,737 (GRCm39) |
P274S |
probably damaging |
Het |
| Ddx24 |
A |
T |
12: 103,382,519 (GRCm39) |
L688* |
probably null |
Het |
| Ddx59 |
A |
G |
1: 136,361,559 (GRCm39) |
I475V |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,081,093 (GRCm39) |
S376T |
possibly damaging |
Het |
| Dhx57 |
G |
T |
17: 80,582,290 (GRCm39) |
N438K |
probably benign |
Het |
| Dlk1 |
T |
A |
12: 109,421,551 (GRCm39) |
|
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,091,004 (GRCm39) |
M114V |
probably benign |
Het |
| Exo5 |
A |
T |
4: 120,778,818 (GRCm39) |
V349E |
probably benign |
Het |
| Fam234b |
T |
C |
6: 135,202,241 (GRCm39) |
V321A |
possibly damaging |
Het |
| Gbp3 |
A |
G |
3: 142,274,822 (GRCm39) |
E383G |
probably benign |
Het |
| Gga2 |
T |
C |
7: 121,596,553 (GRCm39) |
N408S |
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,296,043 (GRCm39) |
V532A |
unknown |
Het |
| Hnrnpul2 |
T |
C |
19: 8,808,673 (GRCm39) |
Y712H |
probably damaging |
Het |
| Hpca |
T |
C |
4: 129,014,019 (GRCm39) |
|
probably benign |
Het |
| Ifitm3 |
A |
G |
7: 140,590,372 (GRCm39) |
F63L |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,153,135 (GRCm39) |
C252* |
probably null |
Het |
| Kank1 |
A |
T |
19: 25,399,525 (GRCm39) |
T940S |
probably benign |
Het |
| Klhl9 |
C |
A |
4: 88,640,646 (GRCm39) |
|
probably benign |
Het |
| Krt36 |
T |
C |
11: 99,993,786 (GRCm39) |
M351V |
probably benign |
Het |
| Mthfd2 |
T |
C |
6: 83,288,830 (GRCm39) |
N125D |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Ncoa2 |
A |
G |
1: 13,247,350 (GRCm39) |
S358P |
possibly damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,557,808 (GRCm39) |
H78R |
probably benign |
Het |
| Or10s1 |
T |
G |
9: 39,986,455 (GRCm39) |
L288R |
probably damaging |
Het |
| Or5k1 |
T |
C |
16: 58,617,343 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or5m13b |
A |
T |
2: 85,754,146 (GRCm39) |
Y178F |
probably damaging |
Het |
| Or9r3 |
A |
G |
10: 129,948,179 (GRCm39) |
M160T |
probably benign |
Het |
| Pabpc4 |
A |
T |
4: 123,186,685 (GRCm39) |
D302V |
possibly damaging |
Het |
| Pgap1 |
A |
T |
1: 54,582,345 (GRCm39) |
S167R |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,914,109 (GRCm39) |
L517P |
probably benign |
Het |
| Rcan2 |
A |
G |
17: 44,328,689 (GRCm39) |
D86G |
probably benign |
Het |
| Ryk |
T |
C |
9: 102,775,715 (GRCm39) |
Y442H |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,623,271 (GRCm39) |
Q421K |
probably benign |
Het |
| Sirpa |
G |
T |
2: 129,451,072 (GRCm39) |
V111F |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,975,468 (GRCm39) |
T143S |
possibly damaging |
Het |
| Slc12a8 |
C |
A |
16: 33,445,494 (GRCm39) |
H463N |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Sptlc2 |
A |
G |
12: 87,388,463 (GRCm39) |
Y340H |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,945,745 (GRCm39) |
W926R |
possibly damaging |
Het |
| Tgfa |
A |
G |
6: 86,246,944 (GRCm39) |
E82G |
probably damaging |
Het |
| Thrsp |
A |
G |
7: 97,066,514 (GRCm39) |
I66T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,681,988 (GRCm39) |
E1003G |
unknown |
Het |
| Tube1 |
A |
T |
10: 39,018,262 (GRCm39) |
H113L |
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,681,053 (GRCm39) |
V117A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,380,606 (GRCm39) |
C2305Y |
probably damaging |
Het |
| Zbtb7a |
T |
G |
10: 80,980,010 (GRCm39) |
V68G |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,159,763 (GRCm39) |
D686E |
possibly damaging |
Het |
| Zscan4f |
G |
A |
7: 11,135,308 (GRCm39) |
S238N |
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 |
|
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'- AGGCAGCTAATAGGTGTGATTCTC -3'
Sequencing Primer
(F):5'- GACCCTTGGAGCCTTCAAATATAG -3'
(R):5'- GATTCTCTCACAGAAGCATGATGGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation