Incidental Mutation 'R5239:Epha1'
| ID |
400588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha1
|
| Ensembl Gene |
ENSMUSG00000029859 |
| Gene Name |
Eph receptor A1 |
| Synonyms |
Esk, 5730453L17Rik, Eph |
| MMRRC Submission |
042810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R5239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42335421-42350202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 42341944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 369
(V369L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000073387
AA Change: V369L
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: V369L
| 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 benign
Transcript: ENSMUST00000204357
AA Change: V369L
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: V369L
| 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 |
0.3977 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (60/64) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,848 (GRCm39) |
N168S |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,184,207 (GRCm39) |
T598S |
possibly damaging |
Het |
| Ago1 |
G |
T |
4: 126,335,008 (GRCm39) |
H405N |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,234,781 (GRCm39) |
|
probably null |
Het |
| Baz1a |
A |
G |
12: 54,945,129 (GRCm39) |
S1409P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,078,908 (GRCm39) |
E305G |
probably benign |
Het |
| Bub1 |
T |
A |
2: 127,663,616 (GRCm39) |
R262W |
probably damaging |
Het |
| Cish |
T |
A |
9: 107,177,111 (GRCm39) |
|
probably null |
Het |
| Clip4 |
T |
A |
17: 72,106,072 (GRCm39) |
I85K |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,953,532 (GRCm39) |
C187* |
probably null |
Het |
| Ddx51 |
C |
A |
5: 110,801,514 (GRCm39) |
T54K |
probably benign |
Het |
| Drc1 |
A |
T |
5: 30,520,467 (GRCm39) |
T603S |
probably benign |
Het |
| Eif3l |
T |
A |
15: 78,973,995 (GRCm39) |
M470K |
possibly damaging |
Het |
| Entpd2 |
A |
G |
2: 25,290,830 (GRCm39) |
T445A |
probably damaging |
Het |
| Galnt9 |
T |
A |
5: 110,692,635 (GRCm39) |
L23H |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,804,866 (GRCm39) |
F399S |
probably benign |
Het |
| Gm43972 |
G |
A |
5: 25,866,119 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6489 |
T |
A |
1: 31,326,351 (GRCm39) |
|
noncoding transcript |
Het |
| Grik5 |
A |
T |
7: 24,764,895 (GRCm39) |
M82K |
probably damaging |
Het |
| Hibch |
T |
C |
1: 52,904,767 (GRCm39) |
Y121H |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,296,560 (GRCm39) |
I495N |
possibly damaging |
Het |
| Il1rl2 |
T |
C |
1: 40,404,255 (GRCm39) |
S459P |
probably benign |
Het |
| Kel |
A |
T |
6: 41,665,048 (GRCm39) |
L254* |
probably null |
Het |
| Lasp1 |
A |
G |
11: 97,690,686 (GRCm39) |
K23E |
probably damaging |
Het |
| Lemd2 |
C |
A |
17: 27,422,773 (GRCm39) |
R207L |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,106,051 (GRCm39) |
Q1222L |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,083,269 (GRCm39) |
V1411I |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,820,709 (GRCm39) |
F851L |
probably benign |
Het |
| Myom3 |
G |
A |
4: 135,528,303 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
A |
12: 13,491,519 (GRCm39) |
L1464I |
probably benign |
Het |
| Nr2e3 |
G |
T |
9: 59,857,059 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 91,011,537 (GRCm39) |
D364G |
probably damaging |
Het |
| Or2y1 |
A |
G |
11: 49,385,555 (GRCm39) |
H65R |
possibly damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,853 (GRCm39) |
T112S |
probably benign |
Het |
| Or8g54 |
T |
A |
9: 39,707,492 (GRCm39) |
S274T |
probably damaging |
Het |
| Or9g4b |
T |
G |
2: 85,616,002 (GRCm39) |
I49S |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,936,859 (GRCm39) |
S1523T |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,587,821 (GRCm39) |
|
probably null |
Het |
| Pkdcc |
C |
A |
17: 83,523,413 (GRCm39) |
H173Q |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,410,811 (GRCm39) |
L267P |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,890,021 (GRCm39) |
H80R |
probably damaging |
Het |
| Pwwp3a |
C |
T |
10: 80,064,255 (GRCm39) |
R14* |
probably null |
Het |
| Rag1 |
G |
T |
2: 101,473,300 (GRCm39) |
A614E |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,735,553 (GRCm39) |
D4075G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,758,859 (GRCm39) |
R455L |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,589,227 (GRCm39) |
N232S |
probably benign |
Het |
| Snd1 |
T |
C |
6: 28,545,524 (GRCm39) |
L360P |
probably damaging |
Het |
| Tmem26 |
T |
A |
10: 68,587,096 (GRCm39) |
F181L |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,785,842 (GRCm39) |
M1512V |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,655,852 (GRCm39) |
I20N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r122 |
T |
C |
7: 20,868,023 (GRCm39) |
T11A |
possibly damaging |
Het |
| Vpreb1a |
A |
T |
16: 16,686,592 (GRCm39) |
Y99* |
probably null |
Het |
| Wnt9b |
A |
T |
11: 103,622,054 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,693,559 (GRCm39) |
E604G |
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 |
|
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 |
|
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'- AGTCCTGACACTCTGTTTTGG -3'
(R):5'- AATCTCTCATGAGGGCTTTGGG -3'
Sequencing Primer
(F):5'- CCTGACACTCTGTTTTGGGATTTGAC -3'
(R):5'- CATGAGGGCTTTGGGAGACATAATTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation