Incidental Mutation 'R5014:Epha6'
ID |
385456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha6
|
Ensembl Gene |
ENSMUSG00000055540 |
Gene Name |
Eph receptor A6 |
Synonyms |
Ehk2, m-ehk2, Hek12 |
MMRRC Submission |
042605-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5014 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
59473846-60425894 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59486942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1035
(H1035L)
|
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: H1035L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000066734 Gene: ENSMUSG00000055540 AA Change: H1035L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232302
|
Meta Mutation Damage Score |
0.0589 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.7%
|
Validation Efficiency |
97% (83/86) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,520,896 (GRCm39) |
T1353A |
probably benign |
Het |
Abca8b |
A |
T |
11: 109,840,957 (GRCm39) |
I1072N |
probably damaging |
Het |
Atp1a2 |
T |
C |
1: 172,112,438 (GRCm39) |
T517A |
probably benign |
Het |
Blk |
T |
G |
14: 63,617,236 (GRCm39) |
N257T |
probably benign |
Het |
Brd4 |
A |
T |
17: 32,417,372 (GRCm39) |
|
probably benign |
Het |
Calr4 |
C |
T |
4: 109,092,994 (GRCm39) |
Q25* |
probably null |
Het |
Cbl |
T |
C |
9: 44,065,696 (GRCm39) |
|
probably null |
Het |
Ccdc30 |
T |
G |
4: 119,250,824 (GRCm39) |
H6P |
possibly damaging |
Het |
Cd101 |
A |
C |
3: 100,911,139 (GRCm39) |
Y840D |
probably damaging |
Het |
Cd68 |
T |
A |
11: 69,556,165 (GRCm39) |
N178Y |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,803,952 (GRCm39) |
T1044A |
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,207,291 (GRCm39) |
V1876A |
probably benign |
Het |
Clec2g |
T |
A |
6: 128,925,765 (GRCm39) |
M58K |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,755,793 (GRCm39) |
E860G |
probably damaging |
Het |
Col18a1 |
C |
T |
10: 76,906,794 (GRCm39) |
|
probably null |
Het |
Cul7 |
A |
G |
17: 46,966,868 (GRCm39) |
*650W |
probably null |
Het |
Dkk4 |
C |
T |
8: 23,115,315 (GRCm39) |
A55V |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dnai7 |
T |
C |
6: 145,128,992 (GRCm39) |
E407G |
probably damaging |
Het |
Dnase1 |
C |
A |
16: 3,856,880 (GRCm39) |
Y170* |
probably null |
Het |
Dnmt1 |
A |
C |
9: 20,823,550 (GRCm39) |
I1019S |
probably benign |
Het |
Fam124b |
T |
C |
1: 80,177,776 (GRCm39) |
T408A |
probably benign |
Het |
Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
Galnt7 |
T |
C |
8: 57,998,414 (GRCm39) |
E305G |
probably damaging |
Het |
Garin1b |
C |
T |
6: 29,326,723 (GRCm39) |
|
probably benign |
Het |
Git1 |
T |
A |
11: 77,389,821 (GRCm39) |
V28E |
probably damaging |
Het |
Gm10010 |
C |
T |
6: 128,177,556 (GRCm39) |
|
noncoding transcript |
Het |
Gm4956 |
T |
C |
1: 21,363,821 (GRCm39) |
|
noncoding transcript |
Het |
Gpr152 |
T |
G |
19: 4,193,506 (GRCm39) |
V349G |
probably benign |
Het |
Gtsf1l |
C |
T |
2: 162,929,112 (GRCm39) |
V124I |
probably damaging |
Het |
Gucy1b1 |
C |
G |
3: 81,953,974 (GRCm39) |
G114A |
probably benign |
Het |
Hk2 |
T |
C |
6: 82,720,936 (GRCm39) |
Q166R |
possibly damaging |
Het |
Hook2 |
A |
G |
8: 85,718,006 (GRCm39) |
I44M |
probably damaging |
Het |
Ildr1 |
T |
A |
16: 36,541,921 (GRCm39) |
M222K |
probably damaging |
Het |
Ints6 |
A |
T |
14: 62,997,640 (GRCm39) |
F55Y |
probably benign |
Het |
Kcnh1 |
A |
G |
1: 191,959,388 (GRCm39) |
N314S |
probably damaging |
Het |
Lpin3 |
T |
C |
2: 160,746,748 (GRCm39) |
F748L |
probably damaging |
Het |
Lrsam1 |
T |
C |
2: 32,826,407 (GRCm39) |
|
probably benign |
Het |
Msh2 |
A |
T |
17: 88,025,004 (GRCm39) |
K627N |
possibly damaging |
Het |
Myrip |
A |
G |
9: 120,251,534 (GRCm39) |
Q219R |
probably damaging |
Het |
Ndufb3 |
T |
A |
1: 58,630,401 (GRCm39) |
W51R |
probably damaging |
Het |
Nfasc |
A |
T |
1: 132,512,185 (GRCm39) |
|
probably benign |
Het |
Or2c1 |
T |
A |
16: 3,656,912 (GRCm39) |
I25N |
probably benign |
Het |
Or2h2 |
T |
A |
17: 37,396,446 (GRCm39) |
I204F |
probably benign |
Het |
Or8s8 |
T |
C |
15: 98,354,857 (GRCm39) |
V222A |
possibly damaging |
Het |
P3h3 |
T |
A |
6: 124,832,199 (GRCm39) |
E229V |
probably damaging |
Het |
Ppfia2 |
T |
A |
10: 106,701,224 (GRCm39) |
L837* |
probably null |
Het |
Ppp2r1a |
G |
A |
17: 21,179,101 (GRCm39) |
|
probably null |
Het |
Rabgap1 |
T |
A |
2: 37,377,152 (GRCm39) |
V328E |
probably damaging |
Het |
Ralgapb |
G |
A |
2: 158,337,455 (GRCm39) |
R1138Q |
probably damaging |
Het |
Ranbp2 |
A |
T |
10: 58,299,942 (GRCm39) |
Q498L |
probably benign |
Het |
Rbx1 |
T |
A |
15: 81,355,161 (GRCm39) |
C56S |
probably damaging |
Het |
Rcan2 |
T |
C |
17: 44,328,704 (GRCm39) |
F45S |
probably damaging |
Het |
Rgs20 |
T |
C |
1: 4,980,770 (GRCm39) |
Y185C |
probably damaging |
Het |
Rorc |
T |
G |
3: 94,298,460 (GRCm39) |
L315R |
probably damaging |
Het |
Skic2 |
A |
G |
17: 35,066,401 (GRCm39) |
V194A |
probably benign |
Het |
Slc13a2 |
T |
C |
11: 78,290,987 (GRCm39) |
K406E |
possibly damaging |
Het |
Slc35g3 |
T |
A |
11: 69,651,866 (GRCm39) |
K62* |
probably null |
Het |
Sox30 |
T |
C |
11: 45,882,736 (GRCm39) |
S589P |
probably benign |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Ssh2 |
T |
A |
11: 77,346,102 (GRCm39) |
C1362* |
probably null |
Het |
Tecta |
C |
T |
9: 42,284,538 (GRCm39) |
C849Y |
probably damaging |
Het |
Thbs1 |
T |
A |
2: 117,950,518 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,384,043 (GRCm39) |
|
probably benign |
Het |
Tyk2 |
C |
T |
9: 21,027,126 (GRCm39) |
|
probably null |
Het |
Tyw5 |
C |
A |
1: 57,446,004 (GRCm39) |
|
probably benign |
Het |
Vcp |
T |
C |
4: 42,980,828 (GRCm39) |
T761A |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,822,897 (GRCm39) |
C1401S |
probably benign |
Het |
Wiz |
T |
C |
17: 32,578,340 (GRCm39) |
N391D |
probably damaging |
Het |
Ylpm1 |
G |
A |
12: 85,061,523 (GRCm39) |
E475K |
unknown |
Het |
Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
Zfp184 |
A |
G |
13: 22,142,594 (GRCm39) |
D100G |
probably benign |
Het |
Zfp990 |
T |
A |
4: 145,264,669 (GRCm39) |
C556S |
possibly damaging |
Het |
Zkscan16 |
C |
T |
4: 58,951,892 (GRCm39) |
P189L |
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 |
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 |
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'- GCCTTGCTTGCCATTTCAAATAG -3'
(R):5'- GTAAGAGCGTGATCTGCGTG -3'
Sequencing Primer
(F):5'- TTGAAGAGGACACACACATGAACAC -3'
(R):5'- TGTTTGCATTTAGGTTATCTTGTCC -3'
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Posted On |
2016-05-10 |