Incidental Mutation 'R7389:Epha3'
| ID |
573327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha3
|
| Ensembl Gene |
ENSMUSG00000052504 |
| Gene Name |
Eph receptor A3 |
| Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
| MMRRC Submission |
045471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R7389 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63593347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 247
(E247G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000231270]
[ENSMUST00000232049]
[ENSMUST00000232461]
[ENSMUST00000232654]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064405
AA Change: E247G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: E247G
| 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 benign
Transcript: ENSMUST00000231270
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232049
AA Change: E247G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232461
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232654
AA Change: E247G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa11 |
C |
A |
14: 25,873,312 (GRCm39) |
P182Q |
probably damaging |
Het |
| Asns |
C |
A |
6: 7,689,291 (GRCm39) |
L70F |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,017,529 (GRCm39) |
K445N |
probably benign |
Het |
| Cyp2c50 |
G |
T |
19: 40,079,107 (GRCm39) |
R150L |
probably benign |
Het |
| Dqx1 |
G |
T |
6: 83,041,775 (GRCm39) |
S539I |
probably null |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,789,904 (GRCm39) |
Q801* |
probably null |
Het |
| Fabp2 |
G |
T |
3: 122,689,014 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,819,140 (GRCm39) |
V4958I |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Hdgfl2 |
T |
G |
17: 56,406,389 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
T |
C |
1: 135,894,785 (GRCm39) |
D1927G |
probably benign |
Het |
| Ino80 |
A |
C |
2: 119,273,010 (GRCm39) |
S489A |
probably benign |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,893,741 (GRCm39) |
T481A |
probably benign |
Het |
| Map2k3 |
A |
T |
11: 60,822,862 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,717,638 (GRCm39) |
T617A |
probably benign |
Het |
| Mybpc2 |
T |
G |
7: 44,155,028 (GRCm39) |
T960P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,257,049 (GRCm39) |
N150S |
possibly damaging |
Het |
| Nup153 |
A |
T |
13: 46,854,463 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 58,927,226 (GRCm39) |
L5498P |
probably benign |
Het |
| Or5b21 |
G |
T |
19: 12,839,981 (GRCm39) |
V281L |
probably benign |
Het |
| Or5v1b |
A |
G |
17: 37,841,548 (GRCm39) |
R227G |
possibly damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,389 (GRCm39) |
P181Q |
probably damaging |
Het |
| Pcdhgb4 |
T |
C |
18: 37,855,416 (GRCm39) |
Y604H |
probably damaging |
Het |
| Pja2 |
T |
A |
17: 64,604,722 (GRCm39) |
E487V |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,593,981 (GRCm39) |
R1331* |
probably null |
Het |
| Ppl |
T |
A |
16: 4,924,577 (GRCm39) |
|
probably null |
Het |
| Rhbdl3 |
T |
A |
11: 80,237,665 (GRCm39) |
M299K |
possibly damaging |
Het |
| Scart1 |
A |
G |
7: 139,808,704 (GRCm39) |
K872E |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,696,986 (GRCm39) |
*791W |
probably null |
Het |
| Slc7a2 |
A |
G |
8: 41,365,552 (GRCm39) |
Y461C |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,671,003 (GRCm39) |
Q447K |
probably damaging |
Het |
| Ssh1 |
A |
T |
5: 114,096,892 (GRCm39) |
I205N |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,869,196 (GRCm39) |
V1511I |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
| Tinf2 |
G |
T |
14: 55,918,167 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
A |
G |
4: 48,617,097 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
G |
T |
5: 34,671,145 (GRCm39) |
Q33K |
probably benign |
Het |
| Traf3 |
C |
A |
12: 111,204,187 (GRCm39) |
L59M |
probably damaging |
Het |
| Trav14d-3-dv8 |
T |
C |
14: 53,316,328 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Trim11 |
C |
T |
11: 58,881,481 (GRCm39) |
S458L |
probably damaging |
Het |
| Tspan18 |
A |
T |
2: 93,040,272 (GRCm39) |
V161E |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,038,304 (GRCm39) |
V928E |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,966,457 (GRCm39) |
V767I |
possibly damaging |
Het |
| Usp34 |
T |
G |
11: 23,295,200 (GRCm39) |
F287L |
|
Het |
| Vmn1r213 |
T |
C |
13: 23,196,556 (GRCm39) |
C380R |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,550,515 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CAGAGCCATGTTGTGCTGTC -3'
(R):5'- CGCATTCTGAAACTCAACACTG -3'
Sequencing Primer
(F):5'- GTGCTGTCAAGTAAGATCAGTTCAG -3'
(R):5'- CAACAAAAAGGGGTTTTATTTGGCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation