Incidental Mutation 'R7315:Epha3'
| ID |
567915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha3
|
| Ensembl Gene |
ENSMUSG00000052504 |
| Gene Name |
Eph receptor A3 |
| Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
| MMRRC Submission |
045368-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R7315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63372972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 910
(D910E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000232049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064405
AA Change: D910E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: D910E
| 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: D909E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
C |
7: 119,893,341 (GRCm39) |
I1264L |
probably benign |
Het |
| Abcg8 |
C |
A |
17: 85,004,142 (GRCm39) |
D484E |
probably damaging |
Het |
| Abhd13 |
T |
A |
8: 10,037,970 (GRCm39) |
L189H |
probably damaging |
Het |
| Acox2 |
T |
C |
14: 8,256,139 (GRCm38) |
D60G |
probably damaging |
Het |
| Acp3 |
A |
G |
9: 104,193,423 (GRCm39) |
|
probably null |
Het |
| Agpat4 |
C |
T |
17: 12,429,185 (GRCm39) |
R146C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,793,504 (GRCm39) |
S411P |
unknown |
Het |
| B4galt5 |
A |
G |
2: 167,143,296 (GRCm39) |
V376A |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,344,041 (GRCm39) |
Y198C |
probably damaging |
Het |
| Cd1d1 |
C |
T |
3: 86,905,420 (GRCm39) |
R191H |
possibly damaging |
Het |
| Cd93 |
A |
G |
2: 148,284,461 (GRCm39) |
V295A |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,406,270 (GRCm39) |
T615I |
possibly damaging |
Het |
| Cfap74 |
T |
C |
4: 155,547,476 (GRCm39) |
Y1221H |
unknown |
Het |
| Col24a1 |
G |
A |
3: 145,137,625 (GRCm39) |
S896N |
possibly damaging |
Het |
| Crppa |
A |
G |
12: 36,440,373 (GRCm39) |
T94A |
probably benign |
Het |
| Cst7 |
C |
A |
2: 150,412,503 (GRCm39) |
P22Q |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,061,743 (GRCm39) |
A2781T |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,656,423 (GRCm39) |
A1588T |
probably benign |
Het |
| Dsg2 |
A |
T |
18: 20,712,217 (GRCm39) |
I118F |
probably damaging |
Het |
| Eif1ad2 |
A |
G |
12: 87,786,473 (GRCm39) |
E128G |
unknown |
Het |
| Eme2 |
G |
A |
17: 25,113,840 (GRCm39) |
R62W |
probably damaging |
Het |
| Ext1 |
T |
C |
15: 52,936,783 (GRCm39) |
D654G |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,413,512 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
A |
3: 88,802,486 (GRCm39) |
H1032Q |
probably benign |
Het |
| Kitl |
G |
A |
10: 99,851,974 (GRCm39) |
R31H |
unknown |
Het |
| Lcp2 |
G |
A |
11: 34,019,906 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,322,166 (GRCm39) |
H1921R |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,010,051 (GRCm39) |
T400A |
probably benign |
Het |
| Mak16 |
G |
A |
8: 31,654,766 (GRCm39) |
R143* |
probably null |
Het |
| Mettl23 |
A |
G |
11: 116,739,928 (GRCm39) |
I159V |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,005,036 (GRCm39) |
N335D |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,276,645 (GRCm39) |
C12R |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,387,892 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
G |
7: 49,198,037 (GRCm39) |
N33S |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
| Nmt1 |
A |
G |
11: 102,951,009 (GRCm39) |
N367D |
probably benign |
Het |
| Noc2l |
T |
G |
4: 156,325,817 (GRCm39) |
S354R |
probably damaging |
Het |
| Opn1sw |
A |
T |
6: 29,379,362 (GRCm39) |
I214N |
probably damaging |
Het |
| Or12d14-ps1 |
G |
T |
17: 37,673,551 (GRCm39) |
C181F |
probably damaging |
Het |
| Or13e8 |
T |
A |
4: 43,696,961 (GRCm39) |
I71F |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,445 (GRCm39) |
S192P |
probably damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,004 (GRCm39) |
V113A |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,496 (GRCm39) |
F98L |
probably benign |
Het |
| Or7e169 |
G |
T |
9: 19,757,131 (GRCm39) |
S261R |
probably damaging |
Het |
| Or8a1 |
T |
C |
9: 37,641,872 (GRCm39) |
M136V |
probably benign |
Het |
| Or8b9 |
A |
T |
9: 37,766,543 (GRCm39) |
Y143F |
probably benign |
Het |
| Papss2 |
T |
C |
19: 32,616,625 (GRCm39) |
V217A |
possibly damaging |
Het |
| Pes1 |
A |
G |
11: 3,926,085 (GRCm39) |
I291M |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,198,284 (GRCm39) |
I1660N |
possibly damaging |
Het |
| Rapgef1 |
C |
A |
2: 29,624,504 (GRCm39) |
T1030K |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,477 (GRCm39) |
M268V |
probably benign |
Het |
| Rbl2 |
A |
T |
8: 91,802,640 (GRCm39) |
T154S |
probably damaging |
Het |
| Rgs1 |
A |
G |
1: 144,124,637 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
C |
T |
14: 52,358,458 (GRCm39) |
T188I |
not run |
Het |
| Rrp1b |
T |
A |
17: 32,277,545 (GRCm39) |
F608L |
probably benign |
Het |
| Sbp |
C |
T |
17: 24,164,280 (GRCm39) |
A154V |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,889 (GRCm39) |
E243K |
probably damaging |
Het |
| Serpinb6b |
A |
T |
13: 33,156,240 (GRCm39) |
D110V |
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,060,145 (GRCm39) |
D875V |
probably benign |
Het |
| Slc2a4 |
G |
C |
11: 69,837,259 (GRCm39) |
T59R |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,247,310 (GRCm39) |
S462P |
probably damaging |
Het |
| Slc66a1 |
G |
A |
4: 139,029,181 (GRCm39) |
T101M |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,862,720 (GRCm39) |
|
probably null |
Het |
| Steap3 |
A |
G |
1: 120,155,642 (GRCm39) |
V439A |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,698,541 (GRCm39) |
D268N |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,214,395 (GRCm39) |
T422I |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,807,849 (GRCm39) |
N242S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,071,544 (GRCm39) |
T2364A |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,938,806 (GRCm39) |
H365Q |
possibly damaging |
Het |
| Tnrc6c |
T |
G |
11: 117,614,354 (GRCm39) |
N837K |
probably benign |
Het |
| Trim67 |
T |
A |
8: 125,521,069 (GRCm39) |
S144T |
probably benign |
Het |
| Zc3hav1l |
T |
G |
6: 38,272,082 (GRCm39) |
D229A |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,776,385 (GRCm39) |
V1184E |
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 |
|
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 |
|
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'- GTATGATCAGGAGGATGTGCAC -3'
(R):5'- GCAAGAGTACTACCATCTCCTTCC -3'
Sequencing Primer
(F):5'- GATGTGCACAGCCCTCTG -3'
(R):5'- GCCAGCTTGAACAGATGAAGTCTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation