Incidental Mutation 'R1319:Epha10'
| ID |
157627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha10
|
| Ensembl Gene |
ENSMUSG00000028876 |
| Gene Name |
Eph receptor A10 |
| Synonyms |
|
| MMRRC Submission |
039385-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1319 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124775408-124811594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124775707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 14
(V14I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059343]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059343
AA Change: V14I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000050810
Gene: ENSMUSG00000028876
AA Change: V14I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
EPH_lbd
|
35 |
211 |
2.5e-109 |
SMART |
|
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149146
|
| SMART Domains |
Protein: ENSMUSP00000118801
Gene: ENSMUSG00000028876
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ephrin_lbd
|
1 |
66 |
2.2e-25 |
PFAM |
|
low complexity region
|
74 |
87 |
N/A |
INTRINSIC |
|
FN3
|
193 |
290 |
6.54e-6 |
SMART |
|
FN3
|
306 |
392 |
1.66e-7 |
SMART |
|
Pfam:EphA2_TM
|
421 |
496 |
2.4e-15 |
PFAM |
|
TyrKc
|
499 |
754 |
5.17e-90 |
SMART |
|
SAM
|
784 |
851 |
1.2e-15 |
SMART |
|
low complexity region
|
852 |
862 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
C |
14: 68,846,578 (GRCm39) |
E745G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,286,877 (GRCm39) |
K827N |
probably benign |
Het |
| Ang2 |
T |
C |
14: 51,433,164 (GRCm39) |
T73A |
probably benign |
Het |
| Bbs10 |
T |
C |
10: 111,134,735 (GRCm39) |
L51P |
probably damaging |
Het |
| Bean1 |
T |
C |
8: 104,943,856 (GRCm39) |
I137T |
probably benign |
Het |
| Cimip1 |
A |
T |
2: 173,369,716 (GRCm39) |
S77C |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,434,629 (GRCm39) |
T410A |
probably benign |
Het |
| Cyp4a10 |
A |
C |
4: 115,378,342 (GRCm39) |
I143L |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 92,087,231 (GRCm39) |
Q788L |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,117,159 (GRCm39) |
D401N |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,234,070 (GRCm39) |
V114A |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,333,682 (GRCm39) |
P178S |
possibly damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,169,484 (GRCm39) |
|
probably null |
Het |
| Grm1 |
G |
T |
10: 10,565,142 (GRCm39) |
H1055Q |
probably benign |
Het |
| Mcm6 |
T |
C |
1: 128,276,789 (GRCm39) |
N267S |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,866 (GRCm39) |
D53G |
probably damaging |
Het |
| Phc3 |
T |
C |
3: 30,984,018 (GRCm39) |
I699V |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Pyroxd1 |
T |
C |
6: 142,304,874 (GRCm39) |
V367A |
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,159,142 (GRCm39) |
R939H |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,473,537 (GRCm39) |
I535N |
probably damaging |
Het |
| Rhot1 |
T |
C |
11: 80,136,847 (GRCm39) |
C310R |
probably damaging |
Het |
| Tnrc6a |
G |
A |
7: 122,783,474 (GRCm39) |
V1481M |
probably benign |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,172 (GRCm39) |
M29L |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,881,700 (GRCm39) |
I460T |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,660,465 (GRCm39) |
Y1240N |
probably damaging |
Het |
|
| Other mutations in Epha10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01969:Epha10
|
APN |
4 |
124,779,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Epha10
|
UTSW |
4 |
124,779,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4504:Epha10
|
UTSW |
4 |
124,809,480 (GRCm39) |
unclassified |
probably benign |
|
|
R4505:Epha10
|
UTSW |
4 |
124,809,480 (GRCm39) |
unclassified |
probably benign |
|
|
R4507:Epha10
|
UTSW |
4 |
124,809,480 (GRCm39) |
unclassified |
probably benign |
|
|
R4572:Epha10
|
UTSW |
4 |
124,796,361 (GRCm39) |
missense |
unknown |
|
|
R4605:Epha10
|
UTSW |
4 |
124,779,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Epha10
|
UTSW |
4 |
124,780,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5037:Epha10
|
UTSW |
4 |
124,809,178 (GRCm39) |
unclassified |
probably benign |
|
|
R5281:Epha10
|
UTSW |
4 |
124,807,781 (GRCm39) |
unclassified |
probably benign |
|
|
R5319:Epha10
|
UTSW |
4 |
124,807,793 (GRCm39) |
unclassified |
probably benign |
|
|
R5322:Epha10
|
UTSW |
4 |
124,779,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Epha10
|
UTSW |
4 |
124,807,914 (GRCm39) |
unclassified |
probably benign |
|
|
R5681:Epha10
|
UTSW |
4 |
124,796,359 (GRCm39) |
missense |
unknown |
|
|
R5694:Epha10
|
UTSW |
4 |
124,796,446 (GRCm39) |
missense |
unknown |
|
|
R6813:Epha10
|
UTSW |
4 |
124,796,486 (GRCm39) |
missense |
|
|
|
R7471:Epha10
|
UTSW |
4 |
124,796,365 (GRCm39) |
missense |
|
|
|
R7699:Epha10
|
UTSW |
4 |
124,796,440 (GRCm39) |
missense |
|
|
|
R7732:Epha10
|
UTSW |
4 |
124,809,092 (GRCm39) |
missense |
|
|
|
R7735:Epha10
|
UTSW |
4 |
124,807,472 (GRCm39) |
missense |
|
|
|
R7793:Epha10
|
UTSW |
4 |
124,808,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7899:Epha10
|
UTSW |
4 |
124,808,628 (GRCm39) |
missense |
|
|
|
R8057:Epha10
|
UTSW |
4 |
124,796,476 (GRCm39) |
missense |
|
|
|
R8142:Epha10
|
UTSW |
4 |
124,779,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8558:Epha10
|
UTSW |
4 |
124,788,777 (GRCm39) |
missense |
|
|
|
R9136:Epha10
|
UTSW |
4 |
124,796,427 (GRCm39) |
missense |
|
|
|
R9494:Epha10
|
UTSW |
4 |
124,808,649 (GRCm39) |
missense |
|
|
|
R9515:Epha10
|
UTSW |
4 |
124,775,704 (GRCm39) |
missense |
probably benign |
|
|
R9540:Epha10
|
UTSW |
4 |
124,779,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0026:Epha10
|
UTSW |
4 |
124,779,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Epha10
|
UTSW |
4 |
124,779,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Epha10
|
UTSW |
4 |
124,777,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Epha10
|
UTSW |
4 |
124,775,753 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAAGGGTCTCTAGTCCACCGACG -3'
(R):5'- GGTTTCAAGCCCCAACACAGAGTAG -3'
Sequencing Primer
(F):5'- ATGCCTAGCGATTGGTCC -3'
(R):5'- GAGTAGTCTCTCCAACGAATCCTTAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation