Incidental Mutation 'R4743:Epha1'
| ID |
358178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha1
|
| Ensembl Gene |
ENSMUSG00000029859 |
| Gene Name |
Eph receptor A1 |
| Synonyms |
Esk, 5730453L17Rik, Eph |
| MMRRC Submission |
041967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R4743 (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 42349155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 36
(T36K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073387]
[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 benign
Transcript: ENSMUST00000073387
AA Change: T36K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: T36K
| 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 |
noncoding transcript
Transcript: ENSMUST00000190889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204357
AA Change: T36K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: T36K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (44/45) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
A |
G |
1: 85,858,972 (GRCm39) |
|
probably benign |
Het |
| Ahcy |
T |
C |
2: 154,910,888 (GRCm39) |
N27D |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,011,013 (GRCm39) |
L572R |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,296,850 (GRCm39) |
S909P |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,744,845 (GRCm39) |
E54G |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,744,255 (GRCm39) |
S1417P |
probably benign |
Het |
| Colgalt2 |
A |
G |
1: 152,276,094 (GRCm39) |
Y69C |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,828,711 (GRCm39) |
E181G |
probably damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,370,409 (GRCm39) |
S326T |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,631,256 (GRCm39) |
E253G |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Ewsr1 |
A |
T |
11: 5,033,541 (GRCm39) |
D210E |
unknown |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,111 (GRCm39) |
R862* |
probably null |
Het |
| Gbp8 |
T |
C |
5: 105,178,707 (GRCm39) |
K203E |
possibly damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,292,970 (GRCm39) |
L79* |
probably null |
Het |
| Gm8220 |
T |
A |
14: 44,523,152 (GRCm39) |
|
probably benign |
Het |
| Gm9755 |
A |
T |
8: 67,966,929 (GRCm39) |
|
noncoding transcript |
Het |
| Il6 |
T |
C |
5: 30,223,042 (GRCm39) |
Y120H |
probably damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,853,270 (GRCm39) |
T2A |
probably damaging |
Het |
| Mroh9 |
T |
C |
1: 162,852,061 (GRCm39) |
Y876C |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,878,548 (GRCm39) |
Y601C |
probably damaging |
Het |
| Rabgap1l |
G |
T |
1: 160,281,353 (GRCm39) |
Q623K |
probably damaging |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,080,375 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,114,927 (GRCm39) |
L386* |
probably null |
Het |
| Slc4a7 |
A |
G |
14: 14,796,073 (GRCm38) |
|
probably null |
Het |
| Slco1c1 |
T |
C |
6: 141,510,242 (GRCm39) |
C582R |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,906,517 (GRCm39) |
N520D |
probably benign |
Het |
| Tbc1d7 |
A |
G |
13: 43,323,325 (GRCm39) |
V22A |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,327,910 (GRCm39) |
V612A |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,483,627 (GRCm39) |
E488G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,566 (GRCm39) |
Y439C |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,661,054 (GRCm39) |
|
probably null |
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 |
|
R4280:Epha1
|
UTSW |
6 |
42,341,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGTACCATTCAGGAGCCTCTG -3'
(R):5'- GGTTGCTCTTCCAACGCTTG -3'
Sequencing Primer
(F):5'- ATTCAGGAGCCTCTGACTCAG -3'
(R):5'- TGACTCTGGTTCAGGCACC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation