Incidental Mutation 'R5595:Epha1'
| ID |
437767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha1
|
| Ensembl Gene |
ENSMUSG00000029859 |
| Gene Name |
Eph receptor A1 |
| Synonyms |
Esk, 5730453L17Rik, Eph |
| MMRRC Submission |
043147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R5595 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42335421-42350202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42341568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 494
(V494A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073387]
[ENSMUST00000164375]
[ENSMUST00000204357]
|
| AlphaFold |
Q60750 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073387
AA Change: V457A
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: V457A
| 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 |
possibly damaging
Transcript: ENSMUST00000204357
AA Change: V494A
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: V494A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| 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 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,682,143 (GRCm39) |
F991S |
probably benign |
Het |
| 4931406B18Rik |
A |
G |
7: 43,147,296 (GRCm39) |
I218T |
possibly damaging |
Het |
| 9930111J21Rik2 |
C |
T |
11: 48,910,538 (GRCm39) |
A632T |
possibly damaging |
Het |
| Akt1 |
A |
T |
12: 112,625,050 (GRCm39) |
L166Q |
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,399,319 (GRCm39) |
D2086E |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,043 (GRCm39) |
C915* |
probably null |
Het |
| Ankrd44 |
T |
C |
1: 54,801,506 (GRCm39) |
T274A |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,774,209 (GRCm39) |
I398K |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,550,283 (GRCm39) |
T663A |
probably benign |
Het |
| Btbd16 |
G |
A |
7: 130,425,033 (GRCm39) |
M471I |
possibly damaging |
Het |
| Btbd16 |
C |
A |
7: 130,425,034 (GRCm39) |
Q472K |
probably damaging |
Het |
| Cdc37 |
G |
A |
9: 21,054,509 (GRCm39) |
R39C |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,453,596 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cop1 |
T |
A |
1: 159,077,643 (GRCm39) |
D159E |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,402,390 (GRCm39) |
V73I |
probably benign |
Het |
| Cryz |
T |
A |
3: 154,312,155 (GRCm39) |
V84E |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,669,689 (GRCm39) |
L433F |
probably benign |
Het |
| Ctsq |
C |
A |
13: 61,184,874 (GRCm39) |
D271Y |
probably benign |
Het |
| Cyp3a25 |
A |
C |
5: 145,931,673 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
C |
7: 130,655,797 (GRCm39) |
W412C |
probably benign |
Het |
| Eif4e1b |
G |
A |
13: 54,934,529 (GRCm39) |
V131I |
possibly damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,433,641 (GRCm39) |
S593P |
probably damaging |
Het |
| Fbxo41 |
G |
A |
6: 85,456,883 (GRCm39) |
P429S |
probably benign |
Het |
| Fem1al |
T |
C |
11: 29,774,288 (GRCm39) |
N390D |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,887,347 (GRCm39) |
C204Y |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,272,861 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Htt |
T |
A |
5: 35,062,741 (GRCm39) |
V2825E |
probably damaging |
Het |
| Irs1 |
A |
T |
1: 82,267,646 (GRCm39) |
V190E |
probably damaging |
Het |
| Kics2 |
T |
C |
10: 121,576,052 (GRCm39) |
|
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,878,161 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,747,905 (GRCm39) |
|
probably benign |
Het |
| Meox1 |
T |
C |
11: 101,770,169 (GRCm39) |
E186G |
probably damaging |
Het |
| Micu2 |
G |
A |
14: 58,209,201 (GRCm39) |
R86W |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,432 (GRCm39) |
I160K |
probably damaging |
Het |
| Nckap1l |
T |
A |
15: 103,384,085 (GRCm39) |
M561K |
possibly damaging |
Het |
| Or4c104 |
A |
T |
2: 88,586,749 (GRCm39) |
I90N |
probably damaging |
Het |
| Or52s6 |
A |
T |
7: 103,091,635 (GRCm39) |
S232T |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,213 (GRCm39) |
M1L |
probably benign |
Het |
| Otoa |
T |
A |
7: 120,721,200 (GRCm39) |
L405H |
probably damaging |
Het |
| Phyhip |
A |
T |
14: 70,704,314 (GRCm39) |
M178L |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,382,152 (GRCm39) |
N1630I |
probably damaging |
Het |
| Plek2 |
T |
A |
12: 78,940,883 (GRCm39) |
T247S |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,228,409 (GRCm39) |
V293A |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,992,810 (GRCm39) |
F193Y |
probably damaging |
Het |
| Scn3a |
C |
T |
2: 65,291,057 (GRCm39) |
M1896I |
probably benign |
Het |
| Snrnp200 |
T |
C |
2: 127,067,933 (GRCm39) |
V810A |
probably damaging |
Het |
| Taar4 |
G |
A |
10: 23,836,639 (GRCm39) |
S83N |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tec |
T |
A |
5: 72,926,087 (GRCm39) |
I322F |
possibly damaging |
Het |
| Teddm2 |
T |
C |
1: 153,726,146 (GRCm39) |
I190V |
probably benign |
Het |
| Tmem117 |
A |
G |
15: 94,992,765 (GRCm39) |
E475G |
probably damaging |
Het |
| Trip10 |
T |
A |
17: 57,569,460 (GRCm39) |
Y495N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,638,695 (GRCm39) |
V4035A |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,558,062 (GRCm39) |
V1466M |
possibly damaging |
Het |
| Vasp |
A |
G |
7: 18,991,816 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,953,857 (GRCm39) |
M130L |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,034,036 (GRCm39) |
D495E |
possibly damaging |
Het |
| Zfp213 |
A |
G |
17: 23,780,160 (GRCm39) |
V120A |
possibly 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 |
|
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 |
|
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 |
|
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'- AGGTCAGAATCCTTTGCAGG -3'
(R):5'- TCCCTCAGTATCAACATGGGG -3'
Sequencing Primer
(F):5'- CAGGGTTATGTTTAGCCTCAGAAAG -3'
(R):5'- TATCAACATGGGGCACGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation