Incidental Mutation 'R0392:Epha4'
| ID |
31747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha4
|
| Ensembl Gene |
ENSMUSG00000026235 |
| Gene Name |
Eph receptor A4 |
| Synonyms |
Tyro1, Sek1, rb, Sek, Cek8, 2900005C20Rik, Hek8 |
| MMRRC Submission |
038598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R0392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
77343822-77491725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77483610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 133
(K133R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027451]
[ENSMUST00000186930]
[ENSMUST00000188797]
[ENSMUST00000188952]
[ENSMUST00000190149]
|
| AlphaFold |
Q03137 |
| PDB Structure |
THE CRYSTAL STRUCTURE OF AN EPH RECEPTOR SAM DOMAIN REVEALS A MECHANISM FOR MODULAR DIMERIZATION. [X-RAY DIFFRACTION]
Crystal structure of a mutant EphA4 kinase domain (Y742A) [X-RAY DIFFRACTION]
Crystal structure of EphA4 kinase domain in complex with VUF 12058 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF EPHA4 KINASE DOMAIN [X-RAY DIFFRACTION]
Crystal structure of EphA4 kinase domain in complex with Dasatinib. [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027451
AA Change: K133R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000027451
Gene: ENSMUSG00000026235
AA Change: K133R
| Domain | Start | End | E-Value | Type |
|---|
|
EPH_lbd
|
30 |
204 |
1.35e-128 |
SMART |
|
FN3
|
329 |
420 |
1.94e-8 |
SMART |
|
FN3
|
441 |
522 |
9.18e-10 |
SMART |
|
Pfam:EphA2_TM
|
548 |
618 |
1.7e-24 |
PFAM |
|
TyrKc
|
621 |
878 |
1.91e-134 |
SMART |
|
SAM
|
908 |
975 |
1.96e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186930
|
| SMART Domains |
Protein: ENSMUSP00000140370
Gene: ENSMUSG00000026235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
FN3
|
33 |
124 |
9.6e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188797
AA Change: K133R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000140954
Gene: ENSMUSG00000026235
AA Change: K133R
| Domain | Start | End | E-Value | Type |
|---|
|
EPH_lbd
|
30 |
204 |
1.35e-128 |
SMART |
|
FN3
|
329 |
420 |
1.94e-8 |
SMART |
|
FN3
|
441 |
522 |
9.18e-10 |
SMART |
|
Pfam:EphA2_TM
|
547 |
618 |
1.8e-27 |
PFAM |
|
TyrKc
|
621 |
878 |
1.91e-134 |
SMART |
|
SAM
|
908 |
975 |
1.96e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188952
AA Change: K133R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000139640
Gene: ENSMUSG00000026235
AA Change: K133R
| Domain | Start | End | E-Value | Type |
|---|
|
EPH_lbd
|
30 |
204 |
1.35e-128 |
SMART |
|
FN3
|
329 |
420 |
1.94e-8 |
SMART |
|
FN3
|
441 |
522 |
9.18e-10 |
SMART |
|
Pfam:EphA2_TM
|
547 |
618 |
1.8e-27 |
PFAM |
|
TyrKc
|
621 |
878 |
1.91e-134 |
SMART |
|
SAM
|
908 |
975 |
1.96e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189934
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190149
|
| Meta Mutation Damage Score |
0.0612 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| Validation Efficiency |
100% (31/31) |
| 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mutants are known for their "hopping gait". Homozygotes for targeted null mutations show loss of limb alternation in locomotion and axon guidance defects of the corticospinal tract within medulla and spinal cord, resulting in aberrant midline projections. Heterozygotes show less severe phenotype. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(66) : Targeted, knock-out(3) Targeted, other(9) Gene trapped(52) Spontaneous(2) |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bcan |
T |
A |
3: 87,900,869 (GRCm39) |
K455* |
probably null |
Het |
| Casp12 |
T |
A |
9: 5,348,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc61 |
T |
C |
7: 18,625,027 (GRCm39) |
M504V |
probably benign |
Het |
| Cd53 |
A |
T |
3: 106,670,592 (GRCm39) |
V147E |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,785,308 (GRCm39) |
Y226H |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,671 (GRCm39) |
D413G |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,193,230 (GRCm39) |
I254T |
possibly damaging |
Het |
| Ddx39a |
T |
G |
8: 84,448,366 (GRCm39) |
M206R |
probably damaging |
Het |
| Dgki |
T |
A |
6: 36,977,113 (GRCm39) |
T666S |
probably damaging |
Het |
| Dnaaf8 |
T |
C |
16: 4,795,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7a |
C |
A |
1: 53,543,357 (GRCm39) |
C2271F |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Gm11146 |
T |
A |
16: 77,394,054 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
A |
T |
14: 57,733,617 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,460 (GRCm39) |
|
probably benign |
Het |
| Lamp5 |
T |
C |
2: 135,902,817 (GRCm39) |
S179P |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,907,113 (GRCm39) |
S788P |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,106 (GRCm39) |
I279N |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,899,499 (GRCm39) |
W267R |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,151 (GRCm39) |
I175M |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,011 (GRCm39) |
K386E |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,220,660 (GRCm39) |
N2056S |
probably benign |
Het |
| Pold2 |
T |
C |
11: 5,826,776 (GRCm39) |
I53V |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,328,212 (GRCm39) |
D1071E |
probably benign |
Het |
| Rtp3 |
A |
T |
9: 110,818,621 (GRCm39) |
M20K |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,277 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,262,608 (GRCm39) |
S94P |
probably damaging |
Het |
| Slitrk5 |
G |
A |
14: 111,916,465 (GRCm39) |
V30I |
probably benign |
Het |
| St8sia5 |
G |
A |
18: 77,342,102 (GRCm39) |
V271M |
probably damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,383,062 (GRCm39) |
T240N |
probably damaging |
Het |
|
| Other mutations in Epha4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01315:Epha4
|
APN |
1 |
77,375,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01350:Epha4
|
APN |
1 |
77,483,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01657:Epha4
|
APN |
1 |
77,403,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01872:Epha4
|
APN |
1 |
77,359,676 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02366:Epha4
|
APN |
1 |
77,403,348 (GRCm39) |
nonsense |
probably null |
|
|
IGL02426:Epha4
|
APN |
1 |
77,421,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02428:Epha4
|
APN |
1 |
77,483,385 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02706:Epha4
|
APN |
1 |
77,403,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Epha4
|
APN |
1 |
77,357,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03348:Epha4
|
APN |
1 |
77,483,809 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
frog
|
UTSW |
1 |
77,481,076 (GRCm38) |
intron |
probably benign |
|
|
R0324:Epha4
|
UTSW |
1 |
77,360,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Epha4
|
UTSW |
1 |
77,365,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Epha4
|
UTSW |
1 |
77,365,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0885:Epha4
|
UTSW |
1 |
77,359,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1509:Epha4
|
UTSW |
1 |
77,357,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1620:Epha4
|
UTSW |
1 |
77,351,563 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1624:Epha4
|
UTSW |
1 |
77,376,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Epha4
|
UTSW |
1 |
77,351,405 (GRCm39) |
splice site |
probably null |
|
|
R1755:Epha4
|
UTSW |
1 |
77,364,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Epha4
|
UTSW |
1 |
77,351,541 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2046:Epha4
|
UTSW |
1 |
77,483,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Epha4
|
UTSW |
1 |
77,359,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Epha4
|
UTSW |
1 |
77,488,339 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2511:Epha4
|
UTSW |
1 |
77,488,339 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3441:Epha4
|
UTSW |
1 |
77,403,333 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3724:Epha4
|
UTSW |
1 |
77,403,180 (GRCm39) |
splice site |
probably benign |
|
|
R3901:Epha4
|
UTSW |
1 |
77,357,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Epha4
|
UTSW |
1 |
77,376,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3951:Epha4
|
UTSW |
1 |
77,376,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Epha4
|
UTSW |
1 |
77,376,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4012:Epha4
|
UTSW |
1 |
77,366,731 (GRCm39) |
splice site |
probably benign |
|
|
R4321:Epha4
|
UTSW |
1 |
77,483,850 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4422:Epha4
|
UTSW |
1 |
77,488,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4898:Epha4
|
UTSW |
1 |
77,366,712 (GRCm39) |
nonsense |
probably null |
|
|
R5072:Epha4
|
UTSW |
1 |
77,421,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5270:Epha4
|
UTSW |
1 |
77,483,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5281:Epha4
|
UTSW |
1 |
77,351,504 (GRCm39) |
missense |
probably benign |
|
|
R5315:Epha4
|
UTSW |
1 |
77,365,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5531:Epha4
|
UTSW |
1 |
77,351,513 (GRCm39) |
missense |
probably benign |
|
|
R5621:Epha4
|
UTSW |
1 |
77,491,686 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5648:Epha4
|
UTSW |
1 |
77,375,162 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5747:Epha4
|
UTSW |
1 |
77,483,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5829:Epha4
|
UTSW |
1 |
77,421,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6185:Epha4
|
UTSW |
1 |
77,483,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6486:Epha4
|
UTSW |
1 |
77,360,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Epha4
|
UTSW |
1 |
77,359,582 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6978:Epha4
|
UTSW |
1 |
77,354,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7039:Epha4
|
UTSW |
1 |
77,483,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Epha4
|
UTSW |
1 |
77,421,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Epha4
|
UTSW |
1 |
77,376,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Epha4
|
UTSW |
1 |
77,364,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:Epha4
|
UTSW |
1 |
77,357,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Epha4
|
UTSW |
1 |
77,366,668 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7950:Epha4
|
UTSW |
1 |
77,483,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8297:Epha4
|
UTSW |
1 |
77,483,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8373:Epha4
|
UTSW |
1 |
77,483,716 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8429:Epha4
|
UTSW |
1 |
77,366,673 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8907:Epha4
|
UTSW |
1 |
77,483,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9024:Epha4
|
UTSW |
1 |
77,365,169 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1088:Epha4
|
UTSW |
1 |
77,483,299 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1176:Epha4
|
UTSW |
1 |
77,359,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Epha4
|
UTSW |
1 |
77,350,370 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGGGCTAGATTTCGAACGGTG -3'
(R):5'- AGAACAACTGGCTGCGAACTGAC -3'
Sequencing Primer
(F):5'- GTGGACACTTCTTGTAGAACACAC -3'
(R):5'- TGCGAACTGACTGGATCAC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation