Incidental Mutation 'PIT4377001:Epha6'
| ID |
554953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha6
|
| Ensembl Gene |
ENSMUSG00000055540 |
| Gene Name |
Eph receptor A6 |
| Synonyms |
Ehk2, m-ehk2, Hek12 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4377001 (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 G
at 60025915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 509
(I509T)
|
| 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: I509T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: I509T
| 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: 92.9%
- 3x: 90.8%
- 10x: 85.9%
- 20x: 75.6%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
T |
C |
4: 39,451,129 (GRCm39) |
C112R |
possibly damaging |
Het |
| Acadl |
G |
A |
1: 66,877,564 (GRCm39) |
T329M |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,677,104 (GRCm39) |
L1909P |
probably damaging |
Het |
| Aff3 |
A |
C |
1: 38,578,044 (GRCm39) |
V31G |
probably damaging |
Het |
| Bag3 |
A |
G |
7: 128,147,441 (GRCm39) |
D352G |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,386,668 (GRCm39) |
T368S |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,027,608 (GRCm39) |
I434V |
unknown |
Het |
| Casq1 |
T |
A |
1: 172,039,568 (GRCm39) |
T336S |
probably benign |
Het |
| Cib2 |
T |
G |
9: 54,467,271 (GRCm39) |
E11A |
probably damaging |
Het |
| Cttn |
C |
A |
7: 143,993,833 (GRCm39) |
E393D |
possibly damaging |
Het |
| Dchs1 |
G |
A |
7: 105,406,795 (GRCm39) |
R2237W |
probably damaging |
Het |
| Dclre1a |
C |
T |
19: 56,532,837 (GRCm39) |
A586T |
probably benign |
Het |
| Defb1 |
C |
A |
8: 22,266,716 (GRCm39) |
Q17K |
possibly damaging |
Het |
| Dgat2 |
T |
C |
7: 98,806,342 (GRCm39) |
Y285C |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,571,404 (GRCm39) |
F732Y |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,611,835 (GRCm39) |
D176A |
probably benign |
Het |
| Fblim1 |
C |
T |
4: 141,322,720 (GRCm39) |
R21H |
probably damaging |
Het |
| Fbxw20 |
T |
A |
9: 109,050,795 (GRCm39) |
H371L |
probably benign |
Het |
| Foxa1 |
T |
A |
12: 57,589,567 (GRCm39) |
I218F |
probably damaging |
Het |
| Fstl1 |
A |
T |
16: 37,636,167 (GRCm39) |
I53F |
probably benign |
Het |
| Gdnf |
A |
G |
15: 7,864,011 (GRCm39) |
R141G |
probably benign |
Het |
| Gemin7 |
G |
A |
7: 19,299,242 (GRCm39) |
R118* |
probably null |
Het |
| Gm43218 |
T |
C |
6: 70,217,565 (GRCm39) |
T64A |
probably benign |
Het |
| Gnat3 |
G |
A |
5: 18,220,557 (GRCm39) |
M243I |
|
Het |
| Gramd1a |
A |
T |
7: 30,843,095 (GRCm39) |
I71N |
possibly damaging |
Het |
| H4c12 |
C |
G |
13: 21,934,654 (GRCm39) |
G8R |
unknown |
Het |
| Htt |
A |
T |
5: 35,033,309 (GRCm39) |
D1859V |
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,468 (GRCm39) |
F415S |
probably damaging |
Het |
| Ighv1-47 |
T |
C |
12: 114,954,858 (GRCm39) |
N74S |
probably benign |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,192 (GRCm39) |
R64G |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,436,864 (GRCm39) |
V95D |
probably damaging |
Het |
| Jak1 |
A |
C |
4: 101,036,748 (GRCm39) |
N297K |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,127,205 (GRCm39) |
N646K |
possibly damaging |
Het |
| Krt42 |
A |
G |
11: 100,153,931 (GRCm39) |
S442P |
probably damaging |
Het |
| Mcm3ap |
G |
A |
10: 76,338,596 (GRCm39) |
S1408N |
possibly damaging |
Het |
| Mdga2 |
T |
A |
12: 66,763,469 (GRCm39) |
Q278L |
probably damaging |
Het |
| Mkln1 |
C |
T |
6: 31,451,289 (GRCm39) |
T410M |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,552,466 (GRCm39) |
E1792G |
probably damaging |
Het |
| Ndrg1 |
A |
G |
15: 66,820,288 (GRCm39) |
C49R |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,232 (GRCm39) |
H1201R |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,510,804 (GRCm39) |
Y1073C |
unknown |
Het |
| Nrbp2 |
A |
G |
15: 75,958,945 (GRCm39) |
Y253H |
probably benign |
Het |
| Or10c1 |
T |
A |
17: 37,521,980 (GRCm39) |
I255F |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,225 (GRCm39) |
V225D |
probably damaging |
Het |
| Or4k45 |
T |
C |
2: 111,395,556 (GRCm39) |
T78A |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,416,466 (GRCm39) |
C1661S |
probably damaging |
Het |
| Qsox2 |
T |
G |
2: 26,110,924 (GRCm39) |
D147A |
probably damaging |
Het |
| Siglec15 |
T |
A |
18: 78,100,590 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,454,900 (GRCm39) |
T1011S |
unknown |
Het |
| Slc9a2 |
A |
G |
1: 40,783,001 (GRCm39) |
T422A |
probably damaging |
Het |
| Tert |
C |
T |
13: 73,776,380 (GRCm39) |
T377I |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,129 (GRCm39) |
S186R |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,396,343 (GRCm39) |
D212G |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,935,973 (GRCm39) |
D321A |
probably damaging |
Het |
| Topbp1 |
G |
A |
9: 103,187,088 (GRCm39) |
E98K |
possibly damaging |
Het |
| Ugp2 |
C |
A |
11: 21,320,203 (GRCm39) |
M1I |
probably null |
Het |
| Vipr2 |
G |
A |
12: 116,058,418 (GRCm39) |
D112N |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,718,265 (GRCm39) |
E485G |
probably damaging |
Het |
| Vps37a |
T |
A |
8: 40,990,087 (GRCm39) |
I198N |
possibly damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,735 (GRCm39) |
V380A |
probably damaging |
Het |
| Zfhx4 |
G |
C |
3: 5,307,802 (GRCm39) |
V343L |
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 |
|
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 |
|
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'- TTGCCAGCCATACTGCTTAG -3'
(R):5'- TTTTGGAATGGAGCCCACC -3'
Sequencing Primer
(F):5'- GAAAGCAAAGAAGTCATGTTGTTTTC -3'
(R):5'- AATGGAGCCCACCCAGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation