Incidental Mutation 'R4280:Epha1'
| ID |
322836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha1
|
| Ensembl Gene |
ENSMUSG00000029859 |
| Gene Name |
Eph receptor A1 |
| Synonyms |
Esk, 5730453L17Rik, Eph |
| MMRRC Submission |
041648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R4280 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42335421-42350202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42341986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 355
(P355T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073387]
[ENSMUST00000164375]
[ENSMUST00000204357]
|
| AlphaFold |
Q60750 |
| PDB Structure |
The solution structure of the second fibronectin type III domain of mouse Ephrin type-A receptor 1 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073387
AA Change: P355T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: P355T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
EPH_lbd
|
28 |
205 |
3.23e-103 |
SMART |
|
FN3
|
334 |
430 |
8.43e-9 |
SMART |
|
FN3
|
448 |
526 |
1.59e-4 |
SMART |
|
Pfam:EphA2_TM
|
549 |
622 |
3.4e-13 |
PFAM |
|
TyrKc
|
625 |
881 |
2.57e-126 |
SMART |
|
SAM
|
911 |
977 |
4.13e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164375
|
| SMART Domains |
Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
363 |
N/A |
INTRINSIC |
|
LIM
|
375 |
428 |
2.4e-17 |
SMART |
|
LIM
|
435 |
487 |
7.39e-18 |
SMART |
|
LIM
|
495 |
557 |
9.31e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204238
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204357
AA Change: P355T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: P355T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
EPH_lbd
|
28 |
205 |
1.1e-105 |
SMART |
|
FN3
|
334 |
430 |
4.2e-11 |
SMART |
|
low complexity region
|
459 |
473 |
N/A |
INTRINSIC |
|
FN3
|
483 |
563 |
2.4e-8 |
SMART |
|
Pfam:EphA2_TM
|
586 |
659 |
7.6e-11 |
PFAM |
|
STYKc
|
662 |
849 |
1.1e-65 |
SMART |
|
SAM
|
879 |
945 |
2.5e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.2198 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (51/51) |
| 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 is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a null allele exhibit a kinked tail while 18% of mice exhibit vagina atresia with hydrometrocolops and infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap32 |
T |
C |
9: 32,171,185 (GRCm39) |
C1322R |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Arvcf |
G |
A |
16: 18,216,741 (GRCm39) |
R292H |
probably damaging |
Het |
| Ccdc102a |
C |
A |
8: 95,634,444 (GRCm39) |
G382* |
probably null |
Het |
| Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
| Cep76 |
T |
A |
18: 67,773,229 (GRCm39) |
D23V |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,780 (GRCm39) |
M17V |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,340,892 (GRCm39) |
Y224C |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,645,930 (GRCm39) |
|
probably benign |
Het |
| Dgat2 |
A |
G |
7: 98,808,204 (GRCm39) |
I157T |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,023,330 (GRCm39) |
V24A |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,881,761 (GRCm39) |
M771K |
probably damaging |
Het |
| Mov10 |
A |
C |
3: 104,707,095 (GRCm39) |
F635V |
probably damaging |
Het |
| Mtres1 |
A |
T |
10: 43,408,905 (GRCm39) |
F79L |
probably benign |
Het |
| Or10ag60 |
A |
G |
2: 87,438,595 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or5an9 |
A |
G |
19: 12,187,302 (GRCm39) |
Y124C |
probably damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,829,269 (GRCm39) |
|
probably null |
Het |
| Plscr1l1 |
T |
C |
9: 92,225,701 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Plxnd1 |
C |
A |
6: 115,933,055 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,933,056 (GRCm39) |
|
probably null |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Polq |
C |
A |
16: 36,902,419 (GRCm39) |
Q2205K |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Pramel24 |
A |
G |
4: 143,452,592 (GRCm39) |
T8A |
possibly damaging |
Het |
| Psma8 |
T |
A |
18: 14,854,292 (GRCm39) |
D57E |
probably benign |
Het |
| Rbm47 |
T |
C |
5: 66,183,520 (GRCm39) |
Y361C |
probably damaging |
Het |
| Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rrp36 |
G |
A |
17: 46,983,302 (GRCm39) |
T104I |
probably damaging |
Het |
| Rrs1 |
G |
A |
1: 9,616,364 (GRCm39) |
G206S |
probably damaging |
Het |
| Scgb2b6 |
A |
G |
7: 31,318,367 (GRCm39) |
|
noncoding transcript |
Het |
| Skint5 |
T |
A |
4: 113,799,749 (GRCm39) |
K126I |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,028,704 (GRCm39) |
G202D |
probably damaging |
Het |
| Supt5 |
G |
A |
7: 28,016,498 (GRCm39) |
R761W |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,184,294 (GRCm39) |
|
probably null |
Het |
| Tob1 |
T |
C |
11: 94,105,148 (GRCm39) |
V228A |
probably benign |
Het |
| Traj44 |
T |
C |
14: 54,411,148 (GRCm39) |
|
probably benign |
Het |
| Trps1 |
G |
A |
15: 50,709,478 (GRCm39) |
L291F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,310,658 (GRCm39) |
Q2078R |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
probably damaging |
Het |
|
| Other mutations in Epha1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01591:Epha1
|
APN |
6 |
42,337,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02388:Epha1
|
APN |
6 |
42,341,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02614:Epha1
|
APN |
6 |
42,337,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03019:Epha1
|
APN |
6 |
42,339,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
buddy
|
UTSW |
6 |
42,338,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Epha1
|
UTSW |
6 |
42,342,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0894:Epha1
|
UTSW |
6 |
42,340,756 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1353:Epha1
|
UTSW |
6 |
42,338,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1451:Epha1
|
UTSW |
6 |
42,338,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1840:Epha1
|
UTSW |
6 |
42,340,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2064:Epha1
|
UTSW |
6 |
42,342,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2065:Epha1
|
UTSW |
6 |
42,342,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2067:Epha1
|
UTSW |
6 |
42,342,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2087:Epha1
|
UTSW |
6 |
42,340,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3691:Epha1
|
UTSW |
6 |
42,338,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Epha1
|
UTSW |
6 |
42,341,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4111:Epha1
|
UTSW |
6 |
42,335,772 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4369:Epha1
|
UTSW |
6 |
42,342,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Epha1
|
UTSW |
6 |
42,342,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Epha1
|
UTSW |
6 |
42,337,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4743:Epha1
|
UTSW |
6 |
42,349,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4838:Epha1
|
UTSW |
6 |
42,340,750 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4847:Epha1
|
UTSW |
6 |
42,338,848 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4857:Epha1
|
UTSW |
6 |
42,338,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4884:Epha1
|
UTSW |
6 |
42,337,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4929:Epha1
|
UTSW |
6 |
42,341,533 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5239:Epha1
|
UTSW |
6 |
42,341,944 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5416:Epha1
|
UTSW |
6 |
42,342,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Epha1
|
UTSW |
6 |
42,341,568 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5838:Epha1
|
UTSW |
6 |
42,338,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Epha1
|
UTSW |
6 |
42,343,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Epha1
|
UTSW |
6 |
42,341,625 (GRCm39) |
missense |
probably benign |
|
|
R6639:Epha1
|
UTSW |
6 |
42,342,869 (GRCm39) |
nonsense |
probably null |
|
|
R7092:Epha1
|
UTSW |
6 |
42,341,179 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7569:Epha1
|
UTSW |
6 |
42,342,356 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7705:Epha1
|
UTSW |
6 |
42,339,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7802:Epha1
|
UTSW |
6 |
42,338,875 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8306:Epha1
|
UTSW |
6 |
42,335,722 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8835:Epha1
|
UTSW |
6 |
42,342,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8881:Epha1
|
UTSW |
6 |
42,337,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9251:Epha1
|
UTSW |
6 |
42,341,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Epha1
|
UTSW |
6 |
42,344,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGACACTCTGTTTTGGG -3'
(R):5'- TAATCTCTCATGAGGGCTTTGG -3'
Sequencing Primer
(F):5'- CCTGACACTCTGTTTTGGGATTTGAC -3'
(R):5'- CTCTCATGAGGGCTTTGGGAGAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation