Incidental Mutation 'R2198:Epha3'
| ID |
238529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha3
|
| Ensembl Gene |
ENSMUSG00000052504 |
| Gene Name |
Eph receptor A3 |
| Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
| MMRRC Submission |
040200-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R2198 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63664507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 38
(I38V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000231270]
[ENSMUST00000232049]
[ENSMUST00000232461]
[ENSMUST00000232654]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064405
AA Change: I38V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: I38V
| 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 |
possibly damaging
Transcript: ENSMUST00000231270
AA Change: I38V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232049
AA Change: I38V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232654
AA Change: I38V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0857 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (60/61) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1a |
T |
C |
14: 66,875,385 (GRCm39) |
I120T |
probably damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,627,464 (GRCm39) |
P186L |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,483,255 (GRCm39) |
K251R |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,728,226 (GRCm39) |
E789G |
possibly damaging |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,324,220 (GRCm39) |
|
probably benign |
Het |
| Carf |
G |
A |
1: 60,180,643 (GRCm39) |
R355H |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
| Celf6 |
G |
T |
9: 59,510,622 (GRCm39) |
L169F |
possibly damaging |
Het |
| Cep295nl |
A |
T |
11: 118,223,419 (GRCm39) |
I475N |
probably benign |
Het |
| Chdh |
T |
A |
14: 29,753,489 (GRCm39) |
S133T |
possibly damaging |
Het |
| Cnot6l |
C |
T |
5: 96,227,800 (GRCm39) |
D478N |
possibly damaging |
Het |
| Ctnna3 |
C |
A |
10: 64,838,524 (GRCm39) |
T867K |
probably benign |
Het |
| Ctse |
T |
G |
1: 131,600,185 (GRCm39) |
Y311* |
probably null |
Het |
| Ddx60 |
T |
A |
8: 62,411,097 (GRCm39) |
M453K |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,750,325 (GRCm39) |
F3927L |
possibly damaging |
Het |
| Dsg4 |
T |
C |
18: 20,594,499 (GRCm39) |
S543P |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,567 (GRCm39) |
T237S |
probably benign |
Het |
| Eml6 |
T |
G |
11: 29,800,935 (GRCm39) |
H357P |
probably benign |
Het |
| Erap1 |
C |
T |
13: 74,794,806 (GRCm39) |
T155I |
probably damaging |
Het |
| Erh |
T |
C |
12: 80,689,559 (GRCm39) |
|
probably benign |
Het |
| F5 |
A |
T |
1: 164,034,603 (GRCm39) |
K1834M |
probably damaging |
Het |
| Fyn |
A |
G |
10: 39,405,541 (GRCm39) |
E269G |
probably benign |
Het |
| Gm4884 |
A |
G |
7: 40,690,229 (GRCm39) |
T42A |
probably benign |
Het |
| Grm1 |
T |
G |
10: 10,658,520 (GRCm39) |
R323S |
probably damaging |
Het |
| Gstt4 |
T |
C |
10: 75,658,235 (GRCm39) |
D8G |
probably damaging |
Het |
| Gvin-ps3 |
T |
A |
7: 105,682,758 (GRCm39) |
M166L |
probably benign |
Het |
| Ldlr |
A |
G |
9: 21,643,698 (GRCm39) |
D94G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,101,575 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,289,100 (GRCm39) |
F1210Y |
probably damaging |
Het |
| Nifk |
A |
G |
1: 118,257,130 (GRCm39) |
R88G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,487,925 (GRCm39) |
M803I |
probably damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,950 (GRCm39) |
M1T |
probably null |
Het |
| Or2y16 |
C |
T |
11: 49,334,786 (GRCm39) |
S36F |
probably benign |
Het |
| Or6c88 |
T |
A |
10: 129,406,915 (GRCm39) |
Y130* |
probably null |
Het |
| Or8g18 |
G |
A |
9: 39,149,048 (GRCm39) |
T224I |
possibly damaging |
Het |
| Pip4k2a |
A |
T |
2: 18,852,466 (GRCm39) |
M272K |
probably damaging |
Het |
| Ppp1cb |
G |
T |
5: 32,640,704 (GRCm39) |
C139F |
probably damaging |
Het |
| Rad23b |
G |
A |
4: 55,385,497 (GRCm39) |
G345R |
possibly damaging |
Het |
| Shc4 |
A |
T |
2: 125,481,266 (GRCm39) |
V548E |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,691,001 (GRCm39) |
|
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,715,685 (GRCm39) |
K783* |
probably null |
Het |
| Sobp |
A |
C |
10: 42,898,520 (GRCm39) |
I355S |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,899,779 (GRCm39) |
Y491H |
possibly damaging |
Het |
| Tle2 |
T |
C |
10: 81,426,147 (GRCm39) |
V727A |
probably damaging |
Het |
| Tmprss9 |
C |
T |
10: 80,723,293 (GRCm39) |
P251L |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,315,803 (GRCm39) |
D994E |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,340,221 (GRCm39) |
D466N |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,520,872 (GRCm39) |
F394L |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,980,970 (GRCm39) |
Y144F |
probably benign |
Het |
| Usp22 |
A |
G |
11: 61,050,163 (GRCm39) |
F324S |
probably damaging |
Het |
| Vmn1r78 |
G |
T |
7: 11,886,487 (GRCm39) |
V33F |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,336,907 (GRCm39) |
R1494Q |
probably benign |
Het |
| Wdr87-ps |
G |
T |
7: 29,226,697 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h14 |
G |
A |
12: 98,719,068 (GRCm39) |
M144I |
probably damaging |
Het |
| Zc3h14 |
G |
A |
12: 98,719,069 (GRCm39) |
V145M |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 29,756,936 (GRCm39) |
T49A |
probably benign |
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 |
|
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 |
|
R4836:Epha3
|
UTSW |
16 |
63,403,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCAGCAAGTATGGTTTCAGGAG -3'
(R):5'- CCAGCTATTTGTGGCATTCTTG -3'
Sequencing Primer
(F):5'- TTTTCAGAGGCTACACAGGAC -3'
(R):5'- TGGCATTCTTGTTGTACTTATCATG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation