Incidental Mutation 'R8321:Epha6'
| ID |
641983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha6
|
| Ensembl Gene |
ENSMUSG00000055540 |
| Gene Name |
Eph receptor A6 |
| Synonyms |
Ehk2, m-ehk2, Hek12 |
| MMRRC Submission |
067723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8321 (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 59736317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 739
(V739A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068860]
[ENSMUST00000161358]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068860
AA Change: V739A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: V739A
| 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
AA Change: V105A
|
| SMART Domains |
Protein: ENSMUSP00000124340
Gene: ENSMUSG00000055540
AA Change: V105A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap44 |
A |
G |
11: 64,899,053 (GRCm39) |
V708A |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
| Bank1 |
T |
A |
3: 135,940,395 (GRCm39) |
E329V |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,510,029 (GRCm39) |
A859S |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 103,361,416 (GRCm39) |
R641G |
probably damaging |
Het |
| Cfap58 |
A |
G |
19: 47,946,586 (GRCm39) |
E373G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,470,024 (GRCm39) |
T529A |
probably benign |
Het |
| Chtf18 |
G |
A |
17: 25,939,865 (GRCm39) |
T747I |
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,441,684 (GRCm39) |
L2P |
probably benign |
Het |
| Cyp4f18 |
G |
A |
8: 72,742,427 (GRCm39) |
P518S |
possibly damaging |
Het |
| Dmrtc1a |
G |
A |
X: 101,952,221 (GRCm39) |
R8W |
probably benign |
Het |
| Dpyd |
T |
C |
3: 118,575,573 (GRCm39) |
V137A |
possibly damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,431 (GRCm39) |
A676T |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,743,686 (GRCm39) |
I241F |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,787,138 (GRCm39) |
H524R |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,251 (GRCm39) |
Y118H |
probably damaging |
Het |
| Gfm1 |
C |
T |
3: 67,337,594 (GRCm39) |
A8V |
probably benign |
Het |
| Gfm2 |
C |
T |
13: 97,299,500 (GRCm39) |
T407M |
possibly damaging |
Het |
| Gldc |
G |
A |
19: 30,120,807 (GRCm39) |
Q375* |
probably null |
Het |
| Gm5114 |
A |
G |
7: 39,060,273 (GRCm39) |
I192T |
possibly damaging |
Het |
| Gnb1 |
A |
T |
4: 155,639,482 (GRCm39) |
N237I |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,879,096 (GRCm39) |
P4662S |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,820,754 (GRCm39) |
S46F |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 26,461,179 (GRCm39) |
G153E |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
| Invs |
T |
A |
4: 48,283,267 (GRCm39) |
D6E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,628,613 (GRCm39) |
V463A |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,001,862 (GRCm39) |
S96R |
probably damaging |
Het |
| Krtap6-1 |
A |
C |
16: 88,828,624 (GRCm39) |
N7H |
unknown |
Het |
| Matn4 |
A |
T |
2: 164,235,207 (GRCm39) |
V455D |
probably damaging |
Het |
| Nbea |
G |
A |
3: 56,090,518 (GRCm39) |
P47S |
possibly damaging |
Het |
| Oit3 |
T |
C |
10: 59,263,982 (GRCm39) |
H384R |
probably benign |
Het |
| Or1e27-ps1 |
G |
A |
11: 73,556,362 (GRCm39) |
R309H |
unknown |
Het |
| Or8b42 |
A |
T |
9: 38,341,850 (GRCm39) |
I91F |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,400,729 (GRCm39) |
D305V |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,821,715 (GRCm39) |
W314* |
probably null |
Het |
| Pask |
G |
A |
1: 93,248,377 (GRCm39) |
R975C |
possibly damaging |
Het |
| Pate13 |
G |
T |
9: 35,820,749 (GRCm39) |
C111F |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,640,380 (GRCm39) |
N542S |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sez6l2 |
C |
A |
7: 126,557,588 (GRCm39) |
T334N |
probably damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,001,071 (GRCm39) |
T256A |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,387,609 (GRCm39) |
N545Y |
probably damaging |
Het |
| Sprtn |
A |
T |
8: 125,629,994 (GRCm39) |
D429V |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,140,068 (GRCm39) |
V1389A |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,284,349 (GRCm39) |
C912F |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 74,024,939 (GRCm39) |
|
probably null |
Het |
| Tprg1l |
A |
G |
4: 154,244,860 (GRCm39) |
V76A |
probably benign |
Het |
| Trav12-2 |
G |
T |
14: 53,853,840 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
C |
15: 27,881,412 (GRCm39) |
D612G |
possibly damaging |
Het |
| Usp6nl |
A |
T |
2: 6,395,900 (GRCm39) |
Q36H |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,975,544 (GRCm39) |
M167K |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,466,187 (GRCm39) |
L2140Q |
probably damaging |
Het |
| Zfp512b |
A |
G |
2: 181,228,931 (GRCm39) |
V678A |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,242,992 (GRCm39) |
S658P |
probably damaging |
Het |
| Zscan22 |
A |
G |
7: 12,637,625 (GRCm39) |
S6G |
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 |
|
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 |
|
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'- TAGTGACAACACCTTCTAGGC -3'
(R):5'- AGGGATGTCTCTTGAGGAGC -3'
Sequencing Primer
(F):5'- ACACCTTCTAGGCGAATGATG -3'
(R):5'- TGCCTTGATGCAGAAATAACGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation