Incidental Mutation 'R4371:Epha1'
| ID |
325995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha1
|
| Ensembl Gene |
ENSMUSG00000029859 |
| Gene Name |
Eph receptor A1 |
| Synonyms |
Esk, 5730453L17Rik, Eph |
| MMRRC Submission |
041117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R4371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42335421-42350202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42342391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 319
(Y319C)
|
| 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 |
probably damaging
Transcript: ENSMUST00000073387
AA Change: Y319C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: Y319C
| 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 |
noncoding transcript
Transcript: ENSMUST00000204238
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204357
AA Change: Y319C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: Y319C
| 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 |
0.5350 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Alox12b |
G |
A |
11: 69,060,442 (GRCm39) |
R666H |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,491,535 (GRCm39) |
T677A |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,520,965 (GRCm39) |
D470G |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,215,701 (GRCm39) |
F337L |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,454,967 (GRCm39) |
R278W |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
| Chfr |
G |
A |
5: 110,284,034 (GRCm39) |
R36H |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
| Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,763,818 (GRCm39) |
|
probably null |
Het |
| Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
| Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Gm6177 |
A |
T |
1: 160,720,741 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
T |
6: 3,486,988 (GRCm39) |
V123E |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,671,588 (GRCm39) |
S194P |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,210,251 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
T |
1: 60,329,105 (GRCm39) |
K2174N |
possibly damaging |
Het |
| Ncapg |
G |
A |
5: 45,835,797 (GRCm39) |
M409I |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,239,233 (GRCm39) |
S318P |
possibly damaging |
Het |
| Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,409 (GRCm39) |
S227P |
probably benign |
Het |
| Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,896,475 (GRCm39) |
C729R |
probably damaging |
Het |
| Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
| Tfap4 |
A |
G |
16: 4,369,863 (GRCm39) |
I4T |
probably damaging |
Het |
| Thrb |
C |
A |
14: 18,030,275 (GRCm38) |
Q340K |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,888,588 (GRCm39) |
Y1735C |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,725,547 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CTCTGCATTCTAGAGAGGACAG -3'
(R):5'- AGGTCCCCAAACAAGGCTTC -3'
Sequencing Primer
(F):5'- CATTCTAGAGAGGACAGAGGGC -3'
(R):5'- AGCCTGTCCTACTGGTTT -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation