Incidental Mutation 'R6167:Epha3'
| ID |
490219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha3
|
| Ensembl Gene |
ENSMUSG00000052504 |
| Gene Name |
Eph receptor A3 |
| Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
| MMRRC Submission |
044313-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R6167 (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 63433287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 453
(I453V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000232049]
[ENSMUST00000232461]
[ENSMUST00000232654]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064405
AA Change: I453V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: I453V
| 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: I453V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232461
AA Change: I152V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232654
AA Change: I453V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (50/51) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,182,931 (GRCm39) |
E1042V |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
| Aip |
T |
G |
19: 4,165,188 (GRCm39) |
D227A |
probably benign |
Het |
| Ankrd13d |
T |
C |
19: 4,323,081 (GRCm39) |
H283R |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,303,094 (GRCm39) |
T1175I |
probably damaging |
Het |
| Atn1 |
T |
C |
6: 124,723,700 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,902,187 (GRCm39) |
S41P |
probably damaging |
Het |
| Ceacam16 |
G |
A |
7: 19,595,182 (GRCm39) |
|
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,824,626 (GRCm39) |
N524D |
possibly damaging |
Het |
| Dcaf7 |
A |
T |
11: 105,928,077 (GRCm39) |
Y43F |
probably damaging |
Het |
| Etv1 |
A |
T |
12: 38,915,640 (GRCm39) |
T413S |
possibly damaging |
Het |
| Evx2 |
A |
C |
2: 74,489,606 (GRCm39) |
L53R |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,684 (GRCm39) |
A166V |
probably damaging |
Het |
| Fancm |
A |
T |
12: 65,141,669 (GRCm39) |
Y430F |
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,374,271 (GRCm39) |
I538T |
probably damaging |
Het |
| Glyctk |
T |
A |
9: 106,033,691 (GRCm39) |
T208S |
possibly damaging |
Het |
| Golga7 |
T |
C |
8: 23,735,904 (GRCm39) |
D114G |
probably damaging |
Het |
| Grip1 |
T |
C |
10: 119,733,702 (GRCm39) |
|
probably null |
Het |
| Gtf2f1 |
G |
T |
17: 57,311,161 (GRCm39) |
S351R |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,721,642 (GRCm39) |
L300P |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,997,481 (GRCm39) |
S45G |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,876,190 (GRCm39) |
M825K |
probably damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,315 (GRCm39) |
I236V |
probably benign |
Het |
| Large2 |
G |
A |
2: 92,197,433 (GRCm39) |
T354I |
probably benign |
Het |
| Mak |
C |
A |
13: 41,206,828 (GRCm39) |
V101F |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,757,673 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
T |
5: 113,020,373 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,037,249 (GRCm39) |
H2955L |
probably benign |
Het |
| Neurl1a |
G |
C |
19: 47,228,367 (GRCm39) |
G71A |
probably damaging |
Het |
| Ogfrl1 |
A |
T |
1: 23,415,309 (GRCm39) |
L142Q |
probably damaging |
Het |
| Or11g27 |
C |
A |
14: 50,771,612 (GRCm39) |
H248N |
probably damaging |
Het |
| Or1e27-ps1 |
A |
G |
11: 73,556,160 (GRCm39) |
T242A |
probably damaging |
Het |
| P3h4 |
C |
A |
11: 100,302,671 (GRCm39) |
A322S |
probably damaging |
Het |
| Piwil2 |
A |
C |
14: 70,660,342 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
A |
G |
18: 34,561,297 (GRCm39) |
D435G |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,207,145 (GRCm39) |
N567S |
probably null |
Het |
| Prss54 |
G |
A |
8: 96,286,173 (GRCm39) |
P300L |
possibly damaging |
Het |
| Pxdn |
G |
A |
12: 30,024,000 (GRCm39) |
R67Q |
probably damaging |
Het |
| Rapgef3 |
C |
A |
15: 97,665,292 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
C |
T |
3: 129,782,550 (GRCm39) |
G1147S |
possibly damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,966,418 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
A |
T |
3: 144,397,664 (GRCm39) |
D358E |
probably damaging |
Het |
| Shmt2 |
C |
T |
10: 127,353,731 (GRCm39) |
R478H |
probably benign |
Het |
| Slc1a6 |
A |
G |
10: 78,637,671 (GRCm39) |
E399G |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,528,542 (GRCm39) |
Y80F |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,377 (GRCm39) |
V272A |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,446,474 (GRCm39) |
D308V |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,707,657 (GRCm39) |
I1698V |
possibly damaging |
Het |
| Thoc5 |
G |
A |
11: 4,865,497 (GRCm39) |
V359M |
probably benign |
Het |
| Tmpo |
C |
T |
10: 90,998,800 (GRCm39) |
R329H |
probably benign |
Het |
| Trim8 |
T |
C |
19: 46,503,626 (GRCm39) |
S393P |
probably benign |
Het |
| Vill |
A |
T |
9: 118,895,932 (GRCm39) |
Y103F |
probably damaging |
Het |
| Zfp948 |
T |
G |
17: 21,807,911 (GRCm39) |
F368V |
probably benign |
Het |
| Zpld1 |
C |
T |
16: 55,053,962 (GRCm39) |
E277K |
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 |
|
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 |
|
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'- TTCTACTGAGAAATCAGAGAGGTCAC -3'
(R):5'- ACTCAAGAGCCCTGGAAGTG -3'
Sequencing Primer
(F):5'- TGACCAGGTTATAAACAGCTCTAC -3'
(R):5'- CCTGGAAGTGGAAATAAAATGTCTTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation