Incidental Mutation 'R5044:Epha3'
| ID |
394282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha3
|
| Ensembl Gene |
ENSMUSG00000052504 |
| Gene Name |
Eph receptor A3 |
| Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
| MMRRC Submission |
042634-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R5044 (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 63422650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 580
(K580R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000232049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064405
AA Change: K580R
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: K580R
| 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: ENSMUST00000232049
AA Change: K579R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Meta Mutation Damage Score |
0.0873 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
96% (73/76) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,323 (GRCm39) |
F3387I |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,304,088 (GRCm39) |
S170R |
probably benign |
Het |
| Adamtsl4 |
A |
G |
3: 95,588,960 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
G |
13: 81,637,050 (GRCm39) |
C3464R |
probably benign |
Het |
| Apbb1 |
A |
T |
7: 105,214,889 (GRCm39) |
|
probably benign |
Het |
| Cad |
A |
G |
5: 31,212,365 (GRCm39) |
T23A |
probably benign |
Het |
| Cdca7 |
A |
G |
2: 72,313,759 (GRCm39) |
R183G |
probably benign |
Het |
| Cdpf1 |
T |
C |
15: 85,693,513 (GRCm39) |
T5A |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,883,490 (GRCm39) |
D133G |
probably damaging |
Het |
| Chrna9 |
T |
C |
5: 66,128,359 (GRCm39) |
L189P |
probably damaging |
Het |
| Clca3a1 |
A |
C |
3: 144,713,689 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
T |
15: 92,140,876 (GRCm39) |
V201F |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,644,267 (GRCm39) |
E352G |
unknown |
Het |
| Ddhd2 |
T |
C |
8: 26,242,164 (GRCm39) |
Y237C |
probably damaging |
Het |
| Dnah6 |
A |
C |
6: 73,014,605 (GRCm39) |
F3609V |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,560 (GRCm39) |
N878S |
probably benign |
Het |
| Fbn1 |
T |
G |
2: 125,171,022 (GRCm39) |
T1938P |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,969 (GRCm39) |
V234A |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,761,660 (GRCm39) |
N351D |
probably benign |
Het |
| Glt1d1 |
A |
T |
5: 127,721,478 (GRCm39) |
N55I |
probably benign |
Het |
| Gm17641 |
C |
A |
3: 68,776,807 (GRCm39) |
|
probably benign |
Het |
| Gm7665 |
A |
G |
18: 16,407,788 (GRCm39) |
|
noncoding transcript |
Het |
| Hgf |
A |
C |
5: 16,819,892 (GRCm39) |
N541T |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,795,814 (GRCm39) |
P152S |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,060,041 (GRCm39) |
L720F |
probably damaging |
Het |
| Kifc5b |
A |
G |
17: 27,143,761 (GRCm39) |
E511G |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,646,538 (GRCm39) |
A235T |
probably benign |
Het |
| Lmln |
A |
G |
16: 32,894,550 (GRCm39) |
D231G |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,403,364 (GRCm39) |
C2070R |
probably damaging |
Het |
| Mbl1 |
A |
G |
14: 40,880,681 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,299,934 (GRCm39) |
S355T |
probably benign |
Het |
| Muc19 |
C |
T |
15: 91,772,332 (GRCm39) |
|
noncoding transcript |
Het |
| Mycbp2 |
A |
C |
14: 103,376,671 (GRCm39) |
|
probably null |
Het |
| Naa20 |
T |
C |
2: 145,757,762 (GRCm39) |
S164P |
probably damaging |
Het |
| Nme4 |
A |
T |
17: 26,312,807 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
A |
T |
1: 39,386,587 (GRCm39) |
R619* |
probably null |
Het |
| Nudt19 |
G |
A |
7: 35,255,171 (GRCm39) |
T20I |
possibly damaging |
Het |
| Or4c119 |
T |
A |
2: 88,987,283 (GRCm39) |
K79* |
probably null |
Het |
| Or5b97 |
A |
G |
19: 12,878,365 (GRCm39) |
Y260H |
probably damaging |
Het |
| Pitpnc1 |
A |
G |
11: 107,187,054 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Rcor2 |
A |
G |
19: 7,247,150 (GRCm39) |
T6A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,999,940 (GRCm39) |
S1131R |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,127,972 (GRCm39) |
D377E |
probably benign |
Het |
| Rtn4rl2 |
T |
A |
2: 84,702,846 (GRCm39) |
N242I |
probably damaging |
Het |
| Sbno2 |
G |
A |
10: 79,898,022 (GRCm39) |
L719F |
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,648,897 (GRCm39) |
D55E |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,289,929 (GRCm39) |
I632N |
unknown |
Het |
| Spaca6 |
A |
G |
17: 18,051,458 (GRCm39) |
T45A |
probably benign |
Het |
| Srpk2 |
A |
T |
5: 23,729,390 (GRCm39) |
D416E |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,443,889 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
A |
T |
3: 102,752,370 (GRCm39) |
I804N |
probably benign |
Het |
| Tdp2 |
G |
A |
13: 25,015,809 (GRCm39) |
R32Q |
probably benign |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,795 (GRCm39) |
V618A |
possibly damaging |
Het |
| Tmc3 |
C |
T |
7: 83,258,326 (GRCm39) |
P439S |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,936,457 (GRCm39) |
D2740V |
probably damaging |
Het |
| Tspyl4 |
A |
G |
10: 34,173,933 (GRCm39) |
T142A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,710,785 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,004,061 (GRCm39) |
L34P |
probably damaging |
Het |
| Tubgcp6 |
G |
T |
15: 88,983,748 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,078,962 (GRCm39) |
V1690E |
probably benign |
Het |
| Vps4b |
T |
C |
1: 106,724,148 (GRCm39) |
|
probably null |
Het |
| Wtap |
A |
G |
17: 13,186,525 (GRCm39) |
S341P |
possibly damaging |
Het |
| Wwc1 |
T |
C |
11: 35,774,172 (GRCm39) |
T363A |
probably benign |
Het |
| Zbtb8a |
G |
A |
4: 129,254,293 (GRCm39) |
T67M |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,037,668 (GRCm39) |
|
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 |
|
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 |
|
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'- TTCTGAAACACCTCCATGGAG -3'
(R):5'- CATTAGGCAACCTTCCAGGGTAC -3'
Sequencing Primer
(F):5'- CACCTCCATGGAGAAAACATTTC -3'
(R):5'- TTCAGGGGAAAGCTTGAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation