Incidental Mutation 'R9251:Epha1'
| ID |
701545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha1
|
| Ensembl Gene |
ENSMUSG00000029859 |
| Gene Name |
Eph receptor A1 |
| Synonyms |
Esk, 5730453L17Rik, Eph |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R9251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42335421-42350202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42341777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 424
(N424K)
|
| 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 |
probably damaging
Transcript: ENSMUST00000073387
AA Change: N424K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: N424K
| 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 damaging
Transcript: ENSMUST00000204357
AA Change: N424K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: N424K
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
G |
T |
16: 38,423,218 (GRCm39) |
N949K |
probably benign |
Het |
| Arv1 |
T |
A |
8: 125,452,062 (GRCm39) |
I76N |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,229,276 (GRCm39) |
A189T |
probably damaging |
Het |
| Ch25h |
T |
C |
19: 34,451,769 (GRCm39) |
Y253C |
probably damaging |
Het |
| Cnot11 |
T |
C |
1: 39,581,587 (GRCm39) |
M376T |
probably damaging |
Het |
| Cnot7 |
T |
C |
8: 40,964,622 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
G |
A |
11: 118,012,618 (GRCm39) |
S481F |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,406,619 (GRCm39) |
R541Q |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,621,671 (GRCm39) |
M1151I |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,957,166 (GRCm39) |
D19G |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,332,574 (GRCm39) |
M212K |
probably damaging |
Het |
| Elp6 |
G |
A |
9: 110,134,666 (GRCm39) |
V12I |
unknown |
Het |
| Enox1 |
G |
A |
14: 77,852,997 (GRCm39) |
|
probably null |
Het |
| Fam171a1 |
T |
C |
2: 3,226,525 (GRCm39) |
S553P |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,974,687 (GRCm39) |
S278P |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,032,589 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
T |
A |
1: 166,311,307 (GRCm39) |
R517S |
probably benign |
Het |
| Gnrhr |
A |
G |
5: 86,345,221 (GRCm39) |
L155P |
possibly damaging |
Het |
| Igfn1 |
C |
T |
1: 135,894,409 (GRCm39) |
|
probably benign |
Het |
| Ik |
T |
A |
18: 36,880,495 (GRCm39) |
|
probably null |
Het |
| Insrr |
A |
T |
3: 87,717,391 (GRCm39) |
Q763L |
probably benign |
Het |
| Klf5 |
G |
T |
14: 99,538,824 (GRCm39) |
C79F |
possibly damaging |
Het |
| Lrrcc1 |
A |
T |
3: 14,623,454 (GRCm39) |
R760S |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 32,002,080 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
C |
T |
2: 119,853,671 (GRCm39) |
A1159V |
probably benign |
Het |
| Mgst3 |
C |
T |
1: 167,205,860 (GRCm39) |
|
probably null |
Het |
| Mtch2 |
T |
A |
2: 90,679,980 (GRCm39) |
F71I |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,276,076 (GRCm39) |
I764V |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,088,425 (GRCm39) |
L896* |
probably null |
Het |
| Ndufs5 |
T |
G |
4: 123,606,628 (GRCm39) |
E103A |
probably benign |
Het |
| Nfe2l1 |
G |
A |
11: 96,710,421 (GRCm39) |
P603S |
probably damaging |
Het |
| Or6c211 |
T |
A |
10: 129,505,980 (GRCm39) |
N136I |
possibly damaging |
Het |
| Or8g34 |
A |
T |
9: 39,373,668 (GRCm39) |
M311L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,219,354 (GRCm39) |
N1093S |
|
Het |
| Pitpnb |
G |
A |
5: 111,533,390 (GRCm39) |
R258H |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,099,378 (GRCm39) |
E708G |
possibly damaging |
Het |
| Plppr4 |
T |
A |
3: 117,115,608 (GRCm39) |
T750S |
probably benign |
Het |
| Prrg4 |
T |
G |
2: 104,675,399 (GRCm39) |
E68A |
probably damaging |
Het |
| Rcan2 |
C |
T |
17: 44,328,701 (GRCm39) |
T90M |
possibly damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,027,093 (GRCm39) |
E189G |
probably damaging |
Het |
| Satb1 |
A |
G |
17: 52,112,293 (GRCm39) |
F107S |
probably damaging |
Het |
| Sdc3 |
A |
T |
4: 130,548,513 (GRCm39) |
|
probably benign |
Het |
| Slc22a3 |
A |
T |
17: 12,726,093 (GRCm39) |
V40D |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,048,027 (GRCm39) |
|
probably null |
Het |
| Slfn1 |
T |
C |
11: 83,012,121 (GRCm39) |
F79S |
probably damaging |
Het |
| Snrpg |
G |
T |
6: 86,353,557 (GRCm39) |
V46L |
probably benign |
Het |
| Tbl1xr1 |
G |
A |
3: 22,264,569 (GRCm39) |
C508Y |
probably benign |
Het |
| Thada |
A |
T |
17: 84,538,564 (GRCm39) |
D1481E |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,779,217 (GRCm39) |
V27A |
probably benign |
Het |
| Tns1 |
T |
C |
1: 74,030,855 (GRCm39) |
H300R |
probably damaging |
Het |
| Ttc13 |
C |
A |
8: 125,401,992 (GRCm39) |
G589V |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,040,698 (GRCm39) |
I29V |
possibly damaging |
Het |
| Tubb4a |
T |
A |
17: 57,387,778 (GRCm39) |
N416I |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,177,636 (GRCm39) |
I1884N |
|
Het |
| Usp16 |
A |
G |
16: 87,266,640 (GRCm39) |
K175E |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,217,715 (GRCm39) |
I479M |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,512,531 (GRCm39) |
T2313A |
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,974,442 (GRCm39) |
V368A |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,923,880 (GRCm39) |
S701P |
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 |
|
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 |
|
R9525:Epha1
|
UTSW |
6 |
42,344,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCAGCTTCAGTGACAGG -3'
(R):5'- CGCCATGATATCAGATACAGCGTG -3'
Sequencing Primer
(F):5'- AGAGTGACTCTGGACACCC -3'
(R):5'- ATCAGATACAGCGTGGAGTGCTTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation