Incidental Mutation 'R7802:Epha1'
ID |
600563 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha1
|
Ensembl Gene |
ENSMUSG00000029859 |
Gene Name |
Eph receptor A1 |
Synonyms |
Esk, 5730453L17Rik, Eph |
MMRRC Submission |
045857-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R7802 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
42335421-42350202 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42338875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 641
(R641Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070635]
[ENSMUST00000073387]
[ENSMUST00000164375]
[ENSMUST00000203401]
[ENSMUST00000203652]
[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: ENSMUST00000070635
|
SMART Domains |
Protein: ENSMUSP00000070427 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 |
possibly damaging
Transcript: ENSMUST00000073387
AA Change: R641Q
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000073099 Gene: ENSMUSG00000029859 AA Change: R641Q
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 |
probably benign
Transcript: ENSMUST00000203401
|
SMART Domains |
Protein: ENSMUSP00000145236 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
|
143 |
155 |
N/A |
INTRINSIC |
low complexity region
|
168 |
189 |
N/A |
INTRINSIC |
low complexity region
|
219 |
235 |
N/A |
INTRINSIC |
low complexity region
|
238 |
252 |
N/A |
INTRINSIC |
low complexity region
|
292 |
302 |
N/A |
INTRINSIC |
low complexity region
|
312 |
332 |
N/A |
INTRINSIC |
LIM
|
344 |
397 |
2.4e-17 |
SMART |
LIM
|
404 |
456 |
7.39e-18 |
SMART |
LIM
|
464 |
526 |
9.31e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203652
|
SMART Domains |
Protein: ENSMUSP00000145451 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 |
probably benign
Transcript: ENSMUST00000204357
AA Change: R678Q
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144763 Gene: ENSMUSG00000029859 AA Change: R678Q
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 |
0.1930 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (35/36) |
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 |
Abl1 |
T |
C |
2: 31,650,438 (GRCm39) |
V12A |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,165,518 (GRCm39) |
F983S |
probably benign |
Het |
Cecr2 |
T |
C |
6: 120,720,808 (GRCm39) |
I312T |
probably benign |
Het |
Col6a2 |
A |
T |
10: 76,439,632 (GRCm39) |
W711R |
probably damaging |
Het |
Epb41l4a |
A |
G |
18: 33,961,227 (GRCm39) |
F436L |
probably benign |
Het |
Ercc6 |
C |
A |
14: 32,239,260 (GRCm39) |
A116E |
probably damaging |
Het |
Ermard |
A |
G |
17: 15,281,423 (GRCm39) |
E611G |
probably benign |
Het |
Galnt16 |
T |
G |
12: 80,628,021 (GRCm39) |
I239S |
probably damaging |
Het |
Gna15 |
T |
C |
10: 81,350,175 (GRCm39) |
R76G |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,813,838 (GRCm39) |
Y2657C |
probably damaging |
Het |
Mapkapk2 |
T |
C |
1: 130,984,639 (GRCm39) |
I238V |
possibly damaging |
Het |
Med13l |
T |
C |
5: 118,866,655 (GRCm39) |
S570P |
probably benign |
Het |
Mrap |
C |
T |
16: 90,546,247 (GRCm39) |
T112M |
probably benign |
Het |
Nadsyn1 |
T |
C |
7: 143,359,763 (GRCm39) |
Q403R |
probably benign |
Het |
Nostrin |
T |
C |
2: 69,019,356 (GRCm39) |
V467A |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,710,119 (GRCm39) |
|
probably null |
Het |
Parp16 |
A |
G |
9: 65,137,179 (GRCm39) |
N135S |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,211,137 (GRCm39) |
|
probably null |
Het |
Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Psmc5 |
T |
C |
11: 106,152,538 (GRCm39) |
|
probably null |
Het |
Rsf1 |
G |
T |
7: 97,310,979 (GRCm39) |
V570F |
|
Het |
Rundc3a |
A |
G |
11: 102,290,835 (GRCm39) |
E306G |
probably benign |
Het |
Serpinb6b |
C |
T |
13: 33,155,579 (GRCm39) |
|
|
Het |
Setx |
A |
G |
2: 29,037,033 (GRCm39) |
T1173A |
probably benign |
Het |
Slamf8 |
A |
G |
1: 172,415,677 (GRCm39) |
S54P |
probably damaging |
Het |
Slc5a2 |
A |
C |
7: 127,870,970 (GRCm39) |
D570A |
possibly damaging |
Het |
Slco5a1 |
T |
A |
1: 13,060,700 (GRCm39) |
Q7L |
possibly damaging |
Het |
Stt3b |
G |
T |
9: 115,105,949 (GRCm39) |
S175R |
probably damaging |
Het |
Taar6 |
T |
A |
10: 23,861,151 (GRCm39) |
I132F |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,689,500 (GRCm39) |
V2029A |
probably damaging |
Het |
Tgm4 |
A |
G |
9: 122,880,401 (GRCm39) |
|
probably benign |
Het |
Tmt1a |
A |
T |
15: 100,203,182 (GRCm39) |
N152I |
possibly damaging |
Het |
Togaram1 |
T |
A |
12: 65,013,758 (GRCm39) |
C336* |
probably null |
Het |
Ttn |
G |
A |
2: 76,768,015 (GRCm39) |
T3028M |
unknown |
Het |
Vmn2r25 |
A |
T |
6: 123,828,791 (GRCm39) |
I161N |
possibly damaging |
Het |
Vwf |
T |
C |
6: 125,643,640 (GRCm39) |
C2394R |
|
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 |
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 |
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'- TCACACTCAGACCCAGGTTTCC -3'
(R):5'- ACATAAGCCAAGGAGCATGC -3'
Sequencing Primer
(F):5'- GGGACCAATGCACATACTTTTTGTG -3'
(R):5'- CATGCTAGCCATGGAAGACAGTAC -3'
|
Posted On |
2019-11-26 |