Incidental Mutation 'R7569:Epha1'
| ID |
585632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha1
|
| Ensembl Gene |
ENSMUSG00000029859 |
| Gene Name |
Eph receptor A1 |
| Synonyms |
Esk, 5730453L17Rik, Eph |
| MMRRC Submission |
045657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R7569 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42335421-42350202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42342356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 331
(T331S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000073387
AA Change: T331S
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: T331S
| 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 damaging
Transcript: ENSMUST00000204357
AA Change: T331S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: T331S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182O14Rik |
A |
T |
15: 40,008,344 (GRCm39) |
T73S |
unknown |
Het |
| Acvrl1 |
A |
G |
15: 101,033,636 (GRCm39) |
Q106R |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,306,996 (GRCm39) |
D329E |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,289,900 (GRCm39) |
D1844E |
probably damaging |
Het |
| Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
| Apol6 |
A |
C |
15: 76,934,898 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,629,506 (GRCm39) |
V618M |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,619,046 (GRCm39) |
T113A |
probably benign |
Het |
| BC034090 |
T |
A |
1: 155,093,151 (GRCm39) |
H769L |
probably benign |
Het |
| Bcl11a |
G |
T |
11: 24,035,458 (GRCm39) |
E65* |
probably null |
Het |
| Birc6 |
G |
T |
17: 74,905,077 (GRCm39) |
R1290L |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,819,063 (GRCm39) |
E465G |
probably benign |
Het |
| Cav2 |
T |
A |
6: 17,282,078 (GRCm39) |
I112N |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,957,539 (GRCm39) |
A848V |
probably damaging |
Het |
| Col8a1 |
T |
A |
16: 57,447,555 (GRCm39) |
I652F |
unknown |
Het |
| Cul4a |
A |
G |
8: 13,173,493 (GRCm39) |
N180S |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,287,327 (GRCm39) |
S214P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,323,271 (GRCm39) |
V1197A |
possibly damaging |
Het |
| Dynlt1f |
A |
G |
17: 6,923,181 (GRCm39) |
S7P |
not run |
Het |
| Eef1ece2 |
T |
A |
16: 20,461,237 (GRCm39) |
Y641* |
probably null |
Het |
| Hus1b |
A |
G |
13: 31,130,847 (GRCm39) |
Y271H |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,978 (GRCm39) |
V2610A |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,141,046 (GRCm39) |
L651P |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,298,661 (GRCm39) |
Y361C |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,366,142 (GRCm39) |
V349A |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,977,388 (GRCm39) |
R912G |
probably benign |
Het |
| Mtarc2 |
A |
T |
1: 184,573,622 (GRCm39) |
F92Y |
possibly damaging |
Het |
| Nampt |
T |
A |
12: 32,900,433 (GRCm39) |
H459Q |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 70,999,869 (GRCm39) |
M817V |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,225,026 (GRCm39) |
R345G |
probably benign |
Het |
| Nuak2 |
G |
A |
1: 132,244,019 (GRCm39) |
A18T |
possibly damaging |
Het |
| Or4d6 |
T |
C |
19: 12,086,385 (GRCm39) |
D175G |
possibly damaging |
Het |
| Or5ak23 |
A |
G |
2: 85,244,479 (GRCm39) |
V248A |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3b |
T |
C |
11: 29,138,540 (GRCm39) |
F296S |
possibly damaging |
Het |
| Pramel51 |
A |
T |
12: 88,143,085 (GRCm39) |
Y373N |
probably benign |
Het |
| Pycr2 |
T |
C |
1: 180,732,083 (GRCm39) |
F19L |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,832,003 (GRCm39) |
T226S |
possibly damaging |
Het |
| Rock1 |
A |
T |
18: 10,140,194 (GRCm39) |
N132K |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,355,063 (GRCm39) |
L379Q |
unknown |
Het |
| Sema6d |
A |
G |
2: 124,499,892 (GRCm39) |
I323V |
possibly damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,672,479 (GRCm39) |
I814T |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,272,584 (GRCm39) |
G352R |
probably damaging |
Het |
| Slc39a14 |
T |
C |
14: 70,547,276 (GRCm39) |
T357A |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,029,695 (GRCm39) |
D94E |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,183,220 (GRCm39) |
Y1018H |
probably benign |
Het |
| Srebf1 |
G |
T |
11: 60,090,947 (GRCm39) |
T1069K |
possibly damaging |
Het |
| St3gal3 |
A |
G |
4: 117,821,553 (GRCm39) |
V123A |
probably benign |
Het |
| Stradb |
A |
G |
1: 59,030,310 (GRCm39) |
Y188C |
unknown |
Het |
| Styxl2 |
T |
C |
1: 165,935,604 (GRCm39) |
D198G |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,513,430 (GRCm39) |
F186L |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,164 (GRCm39) |
T1120A |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,446,440 (GRCm39) |
S430T |
probably benign |
Het |
| Tmem62 |
A |
T |
2: 120,837,411 (GRCm39) |
I573L |
probably benign |
Het |
| Trav9-1 |
T |
C |
14: 53,725,581 (GRCm39) |
S7P |
probably benign |
Het |
| U2af1l4 |
A |
T |
7: 30,262,982 (GRCm39) |
I24F |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,097,302 (GRCm39) |
I840N |
probably damaging |
Het |
| Vmn2r74 |
A |
C |
7: 85,601,544 (GRCm39) |
I698S |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,111,896 (GRCm39) |
P12L |
possibly damaging |
Het |
| Zfp507 |
T |
A |
7: 35,493,969 (GRCm39) |
E358V |
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 |
|
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 |
|
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'- TATGTCTCCCAAAGCCCTCATG -3'
(R):5'- AAACATGGGCTGCCTTCTCTC -3'
Sequencing Primer
(F):5'- AGCCCTCATGAGAGATTAAACTTC -3'
(R):5'- GGGCTGCCTTCTCTCTCCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation