Incidental Mutation 'R4836:Epha3'
| ID |
373277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha3
|
| Ensembl Gene |
ENSMUSG00000052504 |
| Gene Name |
Eph receptor A3 |
| Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
| MMRRC Submission |
042451-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R4836 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63403920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 726
(M726K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000232049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064405
AA Change: M727K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: M727K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
EPH_lbd
|
29 |
202 |
1.76e-127 |
SMART |
|
Pfam:GCC2_GCC3
|
263 |
306 |
6.6e-9 |
PFAM |
|
FN3
|
326 |
418 |
1.14e-5 |
SMART |
|
FN3
|
437 |
518 |
4.8e-13 |
SMART |
|
Pfam:EphA2_TM
|
543 |
619 |
8.2e-25 |
PFAM |
|
TyrKc
|
622 |
879 |
5.16e-140 |
SMART |
|
SAM
|
909 |
976 |
1.08e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232049
AA Change: M726K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8345 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (87/89) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 48 hours of birth of cardiac failure. Survivors develop normally with no indications of cardiac abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
T |
11: 116,066,152 (GRCm39) |
S453T |
probably benign |
Het |
| Ahnak2 |
A |
T |
12: 112,740,550 (GRCm39) |
V368D |
probably damaging |
Het |
| Ankrd53 |
A |
T |
6: 83,745,134 (GRCm39) |
Y448F |
probably damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,840,751 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,613,073 (GRCm39) |
N1166S |
probably benign |
Het |
| Atl3 |
C |
T |
19: 7,486,910 (GRCm39) |
R77* |
probably null |
Het |
| Bend6 |
T |
C |
1: 33,922,654 (GRCm39) |
|
probably benign |
Het |
| Ccnt1 |
C |
A |
15: 98,465,444 (GRCm39) |
R25L |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,952,898 (GRCm39) |
T525A |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,804,579 (GRCm39) |
I835V |
probably damaging |
Het |
| Cimap2 |
T |
A |
4: 106,467,724 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
G |
T |
6: 42,286,898 (GRCm39) |
V652L |
probably damaging |
Het |
| Cntln |
T |
A |
4: 84,967,957 (GRCm39) |
Y725* |
probably null |
Het |
| Cog5 |
T |
C |
12: 31,969,732 (GRCm39) |
F21L |
probably benign |
Het |
| D6Ertd527e |
GGCAGCAGCAGCA |
GGCAGCAGCAGCAGCA |
6: 87,088,406 (GRCm39) |
|
probably benign |
Het |
| Dnm2 |
A |
T |
9: 21,402,626 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,819,854 (GRCm39) |
V1430I |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,927,106 (GRCm39) |
D285G |
probably damaging |
Het |
| Eef2kmt |
C |
T |
16: 5,066,867 (GRCm39) |
V129M |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,289,019 (GRCm39) |
L168P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,390,026 (GRCm39) |
F1759Y |
probably damaging |
Het |
| Fubp3 |
T |
A |
2: 31,498,153 (GRCm39) |
S56R |
possibly damaging |
Het |
| Gm1965 |
T |
C |
6: 89,122,392 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,864,958 (GRCm39) |
|
probably benign |
Het |
| H1f9 |
T |
A |
11: 94,858,843 (GRCm39) |
L46* |
probably null |
Het |
| Irs1 |
TGGGGTGGACATCGAACTGAAGGAG |
TG |
1: 82,265,453 (GRCm39) |
913 |
probably null |
Het |
| Isl1 |
A |
G |
13: 116,439,619 (GRCm39) |
M243T |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,366,498 (GRCm39) |
I142F |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,012,263 (GRCm39) |
T1069A |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,069,225 (GRCm39) |
V1848A |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,389,363 (GRCm39) |
V930A |
probably damaging |
Het |
| Kdm5b |
C |
A |
1: 134,521,053 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,241,713 (GRCm39) |
F171L |
possibly damaging |
Het |
| Map1b |
A |
G |
13: 99,567,562 (GRCm39) |
S1720P |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,257,017 (GRCm39) |
Q185L |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,644,027 (GRCm39) |
D238E |
possibly damaging |
Het |
| Mov10l1 |
A |
T |
15: 88,904,472 (GRCm39) |
I784F |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,933,752 (GRCm39) |
P101S |
probably damaging |
Het |
| Myh3 |
G |
T |
11: 66,987,765 (GRCm39) |
A1413S |
probably benign |
Het |
| Naa80 |
A |
T |
9: 107,460,738 (GRCm39) |
Y211F |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or12j4 |
A |
G |
7: 140,046,989 (GRCm39) |
R292G |
probably damaging |
Het |
| Or2t48 |
A |
C |
11: 58,420,308 (GRCm39) |
M168R |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,531,544 (GRCm39) |
I43T |
probably damaging |
Het |
| Or5g9 |
A |
G |
2: 85,551,793 (GRCm39) |
I15V |
probably benign |
Het |
| Or8k22 |
A |
T |
2: 86,163,571 (GRCm39) |
M43K |
probably benign |
Het |
| Or8k23 |
G |
A |
2: 86,186,094 (GRCm39) |
L211F |
probably benign |
Het |
| Palld |
T |
A |
8: 62,140,415 (GRCm39) |
T531S |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,823,195 (GRCm39) |
E105G |
probably benign |
Het |
| Phf11a |
A |
T |
14: 59,525,028 (GRCm39) |
S59T |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,541,480 (GRCm39) |
I1252N |
probably damaging |
Het |
| Ramp3 |
A |
G |
11: 6,624,761 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
G |
A |
2: 143,830,337 (GRCm39) |
T610I |
possibly damaging |
Het |
| Scart2 |
T |
C |
7: 139,879,021 (GRCm39) |
I1051T |
probably benign |
Het |
| Semp2l2a |
C |
T |
8: 13,888,007 (GRCm39) |
S28N |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,098,531 (GRCm39) |
Y555C |
probably damaging |
Het |
| Slc5a2 |
A |
G |
7: 127,866,677 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
T |
A |
12: 81,226,322 (GRCm39) |
D371E |
probably damaging |
Het |
| Stmn1 |
T |
A |
4: 134,197,495 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
C |
T |
1: 12,912,910 (GRCm39) |
L715F |
probably benign |
Het |
| Surf1 |
T |
C |
2: 26,804,255 (GRCm39) |
T180A |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,455 (GRCm39) |
R632W |
unknown |
Het |
| Tchh |
A |
T |
3: 93,354,895 (GRCm39) |
D1445V |
unknown |
Het |
| Tctn1 |
A |
T |
5: 122,383,568 (GRCm39) |
M505K |
probably benign |
Het |
| Tdrkh |
T |
A |
3: 94,332,897 (GRCm39) |
I150N |
probably damaging |
Het |
| Tespa1 |
C |
T |
10: 130,198,028 (GRCm39) |
T350I |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,945,499 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Tmem208 |
C |
T |
8: 106,055,296 (GRCm39) |
S119F |
probably damaging |
Het |
| Tmprss6 |
G |
C |
15: 78,329,588 (GRCm39) |
A91G |
probably damaging |
Het |
| Trp53bp2 |
C |
T |
1: 182,259,147 (GRCm39) |
R67W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,541 (GRCm39) |
I25488T |
possibly damaging |
Het |
| Txnl4a |
A |
G |
18: 80,265,468 (GRCm39) |
E111G |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,237,137 (GRCm39) |
I3402M |
probably damaging |
Het |
| Vmn1r188 |
A |
C |
13: 22,272,291 (GRCm39) |
I82L |
probably benign |
Het |
| Zfp65 |
A |
G |
13: 67,856,994 (GRCm39) |
V95A |
probably benign |
Het |
| Zfp985 |
T |
A |
4: 147,668,612 (GRCm39) |
S493R |
probably damaging |
Het |
|
| Other mutations in Epha3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Epha3
|
APN |
16 |
63,387,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01358:Epha3
|
APN |
16 |
63,416,109 (GRCm39) |
splice site |
probably benign |
|
|
IGL01713:Epha3
|
APN |
16 |
63,372,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02371:Epha3
|
APN |
16 |
63,405,383 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03111:Epha3
|
APN |
16 |
63,473,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03208:Epha3
|
APN |
16 |
63,431,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
laterality
|
UTSW |
16 |
63,388,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
midline
|
UTSW |
16 |
63,664,507 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
stride
|
UTSW |
16 |
63,372,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
F2404:Epha3
|
UTSW |
16 |
63,366,531 (GRCm39) |
missense |
probably benign |
0.14 |
|
P0041:Epha3
|
UTSW |
16 |
63,433,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4498001:Epha3
|
UTSW |
16 |
63,372,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Epha3
|
UTSW |
16 |
63,386,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0147:Epha3
|
UTSW |
16 |
63,433,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0148:Epha3
|
UTSW |
16 |
63,433,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0336:Epha3
|
UTSW |
16 |
63,387,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0738:Epha3
|
UTSW |
16 |
63,415,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Epha3
|
UTSW |
16 |
63,423,882 (GRCm39) |
splice site |
probably benign |
|
|
R0836:Epha3
|
UTSW |
16 |
63,423,882 (GRCm39) |
splice site |
probably benign |
|
|
R0969:Epha3
|
UTSW |
16 |
63,386,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Epha3
|
UTSW |
16 |
63,593,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1205:Epha3
|
UTSW |
16 |
63,418,611 (GRCm39) |
frame shift |
probably null |
|
|
R1349:Epha3
|
UTSW |
16 |
63,431,416 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1372:Epha3
|
UTSW |
16 |
63,431,416 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1469:Epha3
|
UTSW |
16 |
63,473,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1469:Epha3
|
UTSW |
16 |
63,473,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1500:Epha3
|
UTSW |
16 |
63,416,025 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1523:Epha3
|
UTSW |
16 |
63,431,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1532:Epha3
|
UTSW |
16 |
63,366,541 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1544:Epha3
|
UTSW |
16 |
63,593,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Epha3
|
UTSW |
16 |
63,416,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1708:Epha3
|
UTSW |
16 |
63,403,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Epha3
|
UTSW |
16 |
63,422,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1893:Epha3
|
UTSW |
16 |
63,388,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Epha3
|
UTSW |
16 |
63,593,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2144:Epha3
|
UTSW |
16 |
63,593,680 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2190:Epha3
|
UTSW |
16 |
63,366,552 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2198:Epha3
|
UTSW |
16 |
63,664,507 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2344:Epha3
|
UTSW |
16 |
63,472,746 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2504:Epha3
|
UTSW |
16 |
63,423,988 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2911:Epha3
|
UTSW |
16 |
63,472,775 (GRCm39) |
missense |
probably benign |
|
|
R3889:Epha3
|
UTSW |
16 |
63,431,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Epha3
|
UTSW |
16 |
63,403,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4981:Epha3
|
UTSW |
16 |
63,472,775 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5044:Epha3
|
UTSW |
16 |
63,422,650 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5195:Epha3
|
UTSW |
16 |
63,366,510 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5248:Epha3
|
UTSW |
16 |
63,418,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5478:Epha3
|
UTSW |
16 |
63,403,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Epha3
|
UTSW |
16 |
63,423,967 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6167:Epha3
|
UTSW |
16 |
63,433,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6337:Epha3
|
UTSW |
16 |
63,388,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6342:Epha3
|
UTSW |
16 |
63,403,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6793:Epha3
|
UTSW |
16 |
63,593,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6908:Epha3
|
UTSW |
16 |
63,418,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7029:Epha3
|
UTSW |
16 |
63,593,698 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7059:Epha3
|
UTSW |
16 |
63,388,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7175:Epha3
|
UTSW |
16 |
63,403,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Epha3
|
UTSW |
16 |
63,472,695 (GRCm39) |
missense |
probably benign |
|
|
R7217:Epha3
|
UTSW |
16 |
63,372,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7315:Epha3
|
UTSW |
16 |
63,372,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7389:Epha3
|
UTSW |
16 |
63,593,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Epha3
|
UTSW |
16 |
63,418,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Epha3
|
UTSW |
16 |
63,431,443 (GRCm39) |
nonsense |
probably null |
|
|
R7667:Epha3
|
UTSW |
16 |
63,386,963 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7686:Epha3
|
UTSW |
16 |
63,593,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Epha3
|
UTSW |
16 |
63,593,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Epha3
|
UTSW |
16 |
63,403,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8167:Epha3
|
UTSW |
16 |
63,388,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Epha3
|
UTSW |
16 |
63,403,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Epha3
|
UTSW |
16 |
63,472,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8298:Epha3
|
UTSW |
16 |
63,386,961 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8350:Epha3
|
UTSW |
16 |
63,472,853 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8450:Epha3
|
UTSW |
16 |
63,472,853 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8470:Epha3
|
UTSW |
16 |
63,664,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8478:Epha3
|
UTSW |
16 |
63,593,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Epha3
|
UTSW |
16 |
63,403,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8862:Epha3
|
UTSW |
16 |
63,431,348 (GRCm39) |
missense |
probably benign |
|
|
R8921:Epha3
|
UTSW |
16 |
63,472,838 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9519:Epha3
|
UTSW |
16 |
63,472,668 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9563:Epha3
|
UTSW |
16 |
63,366,510 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9795:Epha3
|
UTSW |
16 |
63,372,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Epha3
|
UTSW |
16 |
63,405,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCTCCATTACTCACCCTGGTTG -3'
(R):5'- GGTAATGCAGCCACATCAATTTTG -3'
Sequencing Primer
(F):5'- ACTCACCCTGGTTGTGTAAG -3'
(R):5'- GCAGCCACATCAATTTTGCATTGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation