Incidental Mutation 'R1708:Epha3'
| ID |
190264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha3
|
| Ensembl Gene |
ENSMUSG00000052504 |
| Gene Name |
Eph receptor A3 |
| Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
| MMRRC Submission |
039741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R1708 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63403870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 744
(V744I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000232049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064405
AA Change: V744I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: V744I
| 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: V743I
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
A |
T |
6: 40,941,732 (GRCm39) |
I4F |
probably benign |
Het |
| Aadacl4fm1 |
T |
C |
4: 144,246,511 (GRCm39) |
V19A |
probably benign |
Het |
| Abca8a |
A |
T |
11: 109,943,928 (GRCm39) |
S1114T |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,708,974 (GRCm39) |
Y55F |
possibly damaging |
Het |
| Alb |
A |
C |
5: 90,611,910 (GRCm39) |
D113A |
possibly damaging |
Het |
| Ankrd33b |
C |
T |
15: 31,305,155 (GRCm39) |
R203Q |
probably damaging |
Het |
| Aqp6 |
T |
C |
15: 99,500,543 (GRCm39) |
V156A |
possibly damaging |
Het |
| AU018091 |
T |
C |
7: 3,206,184 (GRCm39) |
S616G |
probably damaging |
Het |
| Cfd |
T |
A |
10: 79,727,441 (GRCm39) |
D68E |
probably benign |
Het |
| Cntn2 |
C |
T |
1: 132,446,936 (GRCm39) |
A725T |
probably damaging |
Het |
| Copg2 |
A |
C |
6: 30,801,312 (GRCm39) |
D373E |
probably damaging |
Het |
| Cyp2d11 |
T |
C |
15: 82,274,633 (GRCm39) |
T315A |
probably benign |
Het |
| Cyp2j13 |
G |
T |
4: 95,950,304 (GRCm39) |
N232K |
probably damaging |
Het |
| Cyp2j8 |
A |
T |
4: 96,387,832 (GRCm39) |
F210I |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,805,980 (GRCm39) |
T3373M |
probably benign |
Het |
| Eif2ak3 |
A |
G |
6: 70,864,790 (GRCm39) |
K549E |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,523,868 (GRCm39) |
S669G |
probably benign |
Het |
| Fam90a1a |
A |
T |
8: 22,451,464 (GRCm39) |
K108N |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,477,829 (GRCm39) |
V2292M |
probably damaging |
Het |
| Fibp |
T |
C |
19: 5,513,822 (GRCm39) |
C255R |
probably null |
Het |
| Fzd1 |
A |
G |
5: 4,805,791 (GRCm39) |
V597A |
possibly damaging |
Het |
| Gm12790 |
G |
A |
4: 101,825,174 (GRCm39) |
A80V |
possibly damaging |
Het |
| Gm2381 |
A |
T |
7: 42,469,649 (GRCm39) |
N158K |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,085,441 (GRCm39) |
D940E |
probably benign |
Het |
| Ints1 |
A |
T |
5: 139,748,594 (GRCm39) |
V1071E |
probably damaging |
Het |
| Kat5 |
A |
T |
19: 5,659,507 (GRCm39) |
Y44* |
probably null |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Klra6 |
A |
C |
6: 129,999,677 (GRCm39) |
L97* |
probably null |
Het |
| Ly6c2 |
C |
T |
15: 74,983,469 (GRCm39) |
|
probably null |
Het |
| Mon1a |
G |
A |
9: 107,775,917 (GRCm39) |
E12K |
probably benign |
Het |
| Myo3b |
A |
T |
2: 70,075,729 (GRCm39) |
K578* |
probably null |
Het |
| Myrip |
A |
T |
9: 120,293,840 (GRCm39) |
R778S |
possibly damaging |
Het |
| Ncoa4-ps |
A |
G |
12: 119,225,968 (GRCm39) |
|
noncoding transcript |
Het |
| Or2w4 |
C |
T |
13: 21,795,240 (GRCm39) |
A300T |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,944,814 (GRCm39) |
T257I |
probably damaging |
Het |
| Or4c35 |
A |
G |
2: 89,808,382 (GRCm39) |
R87G |
probably benign |
Het |
| Or52n4b |
T |
A |
7: 108,143,781 (GRCm39) |
F14L |
probably benign |
Het |
| Or5b121 |
T |
C |
19: 13,507,277 (GRCm39) |
V80A |
probably damaging |
Het |
| Panx3 |
T |
C |
9: 37,572,687 (GRCm39) |
I288V |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,293 (GRCm39) |
S92T |
probably benign |
Het |
| Pou3f2 |
C |
A |
4: 22,487,255 (GRCm39) |
V293L |
possibly damaging |
Het |
| Rbm15 |
A |
G |
3: 107,238,536 (GRCm39) |
S621P |
probably damaging |
Het |
| Rnf220 |
T |
C |
4: 117,347,083 (GRCm39) |
S110G |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,143,593 (GRCm39) |
V115D |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,544,929 (GRCm39) |
H347R |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,602,328 (GRCm39) |
|
probably null |
Het |
| Sema4f |
G |
T |
6: 82,894,975 (GRCm39) |
P407T |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,901,682 (GRCm39) |
T662A |
probably damaging |
Het |
| Slc27a1 |
C |
A |
8: 72,037,274 (GRCm39) |
|
probably null |
Het |
| Slc41a2 |
T |
A |
10: 83,069,596 (GRCm39) |
I519F |
probably damaging |
Het |
| Sntg2 |
C |
T |
12: 30,423,179 (GRCm39) |
S17N |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,348 (GRCm39) |
L1184P |
probably damaging |
Het |
| Taf5l |
G |
A |
8: 124,736,509 (GRCm39) |
Q21* |
probably null |
Het |
| Tbc1d32 |
A |
C |
10: 56,027,865 (GRCm39) |
S746A |
possibly damaging |
Het |
| Tdrd1 |
T |
G |
19: 56,830,721 (GRCm39) |
S251R |
probably benign |
Het |
| Thap7 |
C |
T |
16: 17,346,814 (GRCm39) |
R121Q |
probably benign |
Het |
| Tmem50a |
A |
G |
4: 134,625,779 (GRCm39) |
V146A |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,850,958 (GRCm39) |
I327V |
possibly damaging |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,150 (GRCm39) |
N114D |
probably damaging |
Het |
| Ttc23 |
T |
C |
7: 67,316,924 (GRCm39) |
I65T |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,481 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Vopp1 |
C |
T |
6: 57,739,497 (GRCm39) |
R17H |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,639,128 (GRCm39) |
K337E |
probably benign |
Het |
| Wrap53 |
G |
A |
11: 69,454,761 (GRCm39) |
R203* |
probably null |
Het |
| Zfp944 |
T |
C |
17: 22,558,026 (GRCm39) |
Y407C |
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 |
|
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 |
|
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'- TTGAACATGTGGGGACCTTGCTC -3'
(R):5'- AGCTGTCATCTTGAAATACCCATGCTG -3'
Sequencing Primer
(F):5'- TGGCTTTTAAATGCAACCTATCC -3'
(R):5'- TACTGGGTAATGCAGCCAC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation