Incidental Mutation 'R5775:Epha6'
| ID |
448755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha6
|
| Ensembl Gene |
ENSMUSG00000055540 |
| Gene Name |
Eph receptor A6 |
| Synonyms |
Ehk2, m-ehk2, Hek12 |
| MMRRC Submission |
043374-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59473846-60425894 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59639357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 839
(R839Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068860]
[ENSMUST00000161358]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068860
AA Change: R839Q
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: R839Q
| 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: ENSMUST00000161358
|
| SMART Domains |
Protein: ENSMUSP00000124340
Gene: ENSMUSG00000055540
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EphA2_TM
|
9 |
88 |
1.2e-26 |
PFAM |
|
Pfam:Pkinase_Tyr
|
91 |
183 |
3e-18 |
PFAM |
|
Pfam:Pkinase
|
91 |
296 |
1.5e-29 |
PFAM |
|
Pfam:Pkinase_Tyr
|
179 |
295 |
6e-31 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (59/61) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
G |
12: 113,509,886 (GRCm39) |
D753G |
possibly damaging |
Het |
| Arpc2 |
T |
A |
1: 74,295,108 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
C |
T |
5: 121,951,512 (GRCm39) |
T619M |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,035,860 (GRCm39) |
Y1120H |
probably damaging |
Het |
| Calm5 |
T |
C |
13: 3,904,435 (GRCm39) |
L20S |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,460,520 (GRCm39) |
I20V |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,451,693 (GRCm39) |
E441G |
probably damaging |
Het |
| Cd63 |
T |
A |
10: 128,746,299 (GRCm39) |
C9S |
probably damaging |
Het |
| Cep250 |
A |
C |
2: 155,811,294 (GRCm39) |
D380A |
possibly damaging |
Het |
| Col5a3 |
G |
T |
9: 20,712,368 (GRCm39) |
P509Q |
unknown |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,327 (GRCm39) |
V264A |
probably benign |
Het |
| Dennd6a |
T |
A |
14: 26,340,528 (GRCm39) |
L214* |
probably null |
Het |
| Dna2 |
A |
G |
10: 62,785,021 (GRCm39) |
N46S |
possibly damaging |
Het |
| Elovl1 |
G |
A |
4: 118,288,094 (GRCm39) |
V77I |
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,472,813 (GRCm39) |
Y207F |
probably damaging |
Het |
| Erlec1 |
A |
T |
11: 30,893,848 (GRCm39) |
S105T |
probably benign |
Het |
| Esp3 |
T |
A |
17: 40,944,468 (GRCm39) |
S37T |
possibly damaging |
Het |
| Foxh1 |
G |
A |
15: 76,554,049 (GRCm39) |
A8V |
probably benign |
Het |
| Fut1 |
A |
C |
7: 45,268,886 (GRCm39) |
D280A |
probably damaging |
Het |
| Gm13998 |
G |
T |
2: 119,708,892 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| H2az1 |
T |
C |
3: 137,571,380 (GRCm39) |
Y61H |
probably damaging |
Het |
| Kcns1 |
T |
C |
2: 164,006,686 (GRCm39) |
I426V |
probably damaging |
Het |
| Kdm4c |
T |
G |
4: 74,277,668 (GRCm39) |
V774G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,228,639 (GRCm39) |
V673I |
probably benign |
Het |
| Mtnr1b |
G |
A |
9: 15,774,168 (GRCm39) |
A297V |
possibly damaging |
Het |
| Or5d43 |
A |
T |
2: 88,105,045 (GRCm39) |
M116K |
probably damaging |
Het |
| Or8b40 |
A |
T |
9: 38,027,423 (GRCm39) |
E110D |
probably damaging |
Het |
| Osbpl5 |
A |
T |
7: 143,258,266 (GRCm39) |
V346D |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
| Pigo |
T |
C |
4: 43,023,475 (GRCm39) |
D233G |
probably damaging |
Het |
| Pmm1 |
A |
T |
15: 81,836,156 (GRCm39) |
I152N |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,757,297 (GRCm39) |
|
probably null |
Het |
| Ppp1r12b |
G |
T |
1: 134,803,780 (GRCm39) |
L460I |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,377,463 (GRCm39) |
D565G |
unknown |
Het |
| Psd |
C |
A |
19: 46,303,211 (GRCm39) |
E724* |
probably null |
Het |
| Rasa2 |
C |
T |
9: 96,459,521 (GRCm39) |
|
probably null |
Het |
| Rsbn1 |
A |
T |
3: 103,869,888 (GRCm39) |
Q783L |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,784,848 (GRCm39) |
Y1035C |
probably damaging |
Het |
| Sec24d |
C |
T |
3: 123,084,109 (GRCm39) |
A96V |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,887,585 (GRCm39) |
|
probably null |
Het |
| Sec62 |
A |
G |
3: 30,847,436 (GRCm39) |
|
probably benign |
Het |
| Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
| Tmem132b |
T |
A |
5: 125,715,394 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
A |
G |
6: 65,591,741 (GRCm39) |
S247G |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,219,162 (GRCm39) |
K263R |
possibly damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,534,281 (GRCm39) |
E860G |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,681,840 (GRCm39) |
S97G |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vps37a |
A |
G |
8: 40,982,160 (GRCm39) |
H109R |
probably damaging |
Het |
| Wfikkn2 |
G |
T |
11: 94,129,114 (GRCm39) |
D342E |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,813,647 (GRCm39) |
F426Y |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,010,590 (GRCm39) |
T852N |
probably damaging |
Het |
| Zfp987 |
T |
G |
4: 146,061,505 (GRCm39) |
S312R |
probably benign |
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 |
|
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'- AGGAAATTACCGTCATTCTCCAC -3'
(R):5'- ACATGTCGGATTCCTTTGTAACTC -3'
Sequencing Primer
(F):5'- GTCATTCTCCACAGAAAATTCATGC -3'
(R):5'- CCATGTCCCTTTATGAACTCAAAAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation