Incidental Mutation 'R5195:Epha3'
| ID |
400172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha3
|
| Ensembl Gene |
ENSMUSG00000052504 |
| Gene Name |
Eph receptor A3 |
| Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
| MMRRC Submission |
042771-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R5195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63366510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 980
(G980D)
|
| 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: G980D
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: G980D
| 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: ENSMUST00000232049
AA Change: G979D
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.0830 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (72/74) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoo-ps |
T |
C |
13: 107,551,053 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef40 |
T |
A |
14: 52,227,269 (GRCm39) |
S438T |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,601,305 (GRCm39) |
L358P |
possibly damaging |
Het |
| Bicra |
G |
A |
7: 15,713,878 (GRCm39) |
P775S |
possibly damaging |
Het |
| Ccdc78 |
T |
A |
17: 26,008,962 (GRCm39) |
|
probably null |
Het |
| Ccnb1-ps |
T |
A |
7: 41,755,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cct6a |
A |
T |
5: 129,871,718 (GRCm39) |
|
noncoding transcript |
Het |
| Cep120 |
T |
A |
18: 53,854,770 (GRCm39) |
H455L |
probably damaging |
Het |
| Cobl |
C |
T |
11: 12,203,565 (GRCm39) |
V964I |
probably benign |
Het |
| Cpt1a |
A |
T |
19: 3,433,800 (GRCm39) |
I761F |
possibly damaging |
Het |
| Crk |
T |
A |
11: 75,570,289 (GRCm39) |
Y14N |
probably damaging |
Het |
| Deup1 |
A |
T |
9: 15,486,487 (GRCm39) |
Y398N |
possibly damaging |
Het |
| Efcab15 |
T |
C |
11: 103,089,794 (GRCm39) |
Y381C |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,030,684 (GRCm39) |
|
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,267,398 (GRCm39) |
D507V |
probably benign |
Het |
| Gtf2i |
A |
T |
5: 134,273,686 (GRCm39) |
L740* |
probably null |
Het |
| Hmgn2 |
C |
A |
4: 133,694,597 (GRCm39) |
A8S |
probably benign |
Het |
| Hook2 |
A |
T |
8: 85,721,405 (GRCm39) |
N252I |
probably damaging |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,510 (GRCm39) |
T39S |
probably damaging |
Het |
| Inpp5j |
A |
C |
11: 3,449,889 (GRCm39) |
|
probably null |
Het |
| Insyn2a |
A |
T |
7: 134,486,145 (GRCm39) |
F469I |
probably damaging |
Het |
| Kbtbd3 |
G |
C |
9: 4,316,905 (GRCm39) |
E19Q |
possibly damaging |
Het |
| Kcns2 |
G |
A |
15: 34,839,677 (GRCm39) |
A347T |
possibly damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,572 (GRCm39) |
E96G |
possibly damaging |
Het |
| Kptn |
A |
G |
7: 15,857,028 (GRCm39) |
Y172C |
probably damaging |
Het |
| Krt86 |
T |
A |
15: 101,374,814 (GRCm39) |
M328K |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,071,795 (GRCm39) |
D894G |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,282,375 (GRCm39) |
V653A |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,050,374 (GRCm39) |
V384D |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 16,155,621 (GRCm39) |
T2010M |
unknown |
Het |
| Maml2 |
T |
A |
9: 13,532,410 (GRCm39) |
N541K |
probably damaging |
Het |
| Med24 |
T |
C |
11: 98,601,107 (GRCm39) |
K585R |
possibly damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,846 (GRCm39) |
S177L |
unknown |
Het |
| Mylk |
T |
A |
16: 34,799,585 (GRCm39) |
F1658L |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,951,676 (GRCm39) |
V4392I |
possibly damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,975 (GRCm39) |
S31P |
probably benign |
Het |
| Or11g2 |
T |
C |
14: 50,856,243 (GRCm39) |
L188P |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,528,288 (GRCm39) |
F1311I |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,974 (GRCm39) |
L521P |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,115,629 (GRCm39) |
T445A |
possibly damaging |
Het |
| Pgam5 |
A |
T |
5: 110,413,854 (GRCm39) |
L103* |
probably null |
Het |
| Pkd2 |
G |
A |
5: 104,634,547 (GRCm39) |
R526Q |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,634,905 (GRCm39) |
Y618C |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,677,450 (GRCm39) |
E43V |
probably damaging |
Het |
| Pramel5 |
T |
A |
4: 143,998,311 (GRCm39) |
M311L |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,855,208 (GRCm39) |
F478L |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryk |
T |
C |
9: 102,744,812 (GRCm39) |
V122A |
probably benign |
Het |
| Sik3 |
G |
T |
9: 46,120,142 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc35e4 |
T |
A |
11: 3,862,872 (GRCm39) |
I106F |
possibly damaging |
Het |
| Slc41a3 |
T |
C |
6: 90,610,653 (GRCm39) |
S172P |
probably damaging |
Het |
| Snrnp70 |
T |
A |
7: 45,044,134 (GRCm39) |
K32N |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,008,704 (GRCm39) |
Y1945H |
probably benign |
Het |
| St7 |
A |
G |
6: 17,743,636 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
A |
14: 30,862,478 (GRCm39) |
|
probably benign |
Het |
| Taf13 |
G |
A |
3: 108,488,390 (GRCm39) |
R91Q |
probably damaging |
Het |
| Tmem200a |
T |
C |
10: 25,954,854 (GRCm39) |
|
probably benign |
Het |
| Tnc |
A |
T |
4: 63,885,489 (GRCm39) |
L1871Q |
probably damaging |
Het |
| Toe1 |
T |
C |
4: 116,661,852 (GRCm39) |
H439R |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,887,441 (GRCm39) |
V893A |
possibly damaging |
Het |
| Ubr3 |
G |
A |
2: 69,786,378 (GRCm39) |
A831T |
probably benign |
Het |
| Wdr89 |
C |
T |
12: 75,680,062 (GRCm39) |
R64Q |
probably benign |
Het |
| Zbed5 |
G |
T |
5: 129,931,019 (GRCm39) |
V323F |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,891,647 (GRCm39) |
R287G |
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 |
|
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'- CCCACCCATCTGTAAAATGATAGGG -3'
(R):5'- GAAATCAGATATCAAGCATGGGTTG -3'
Sequencing Primer
(F):5'- GAGCTTTCTGCAGCATCTT -3'
(R):5'- CCAGGAGTCTTACCAGTT -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation