Incidental Mutation 'R4504:Epha10'
| ID |
331921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha10
|
| Ensembl Gene |
ENSMUSG00000028876 |
| Gene Name |
Eph receptor A10 |
| Synonyms |
|
| MMRRC Submission |
041755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
124775408-124811594 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 124809480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030690]
[ENSMUST00000084296]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030690
|
| SMART Domains |
Protein: ENSMUSP00000030690
Gene: ENSMUSG00000028873
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nbl1_Borealin_N
|
20 |
76 |
1.9e-20 |
PFAM |
|
low complexity region
|
109 |
139 |
N/A |
INTRINSIC |
|
Pfam:Borealin
|
148 |
286 |
5.9e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084296
|
| SMART Domains |
Protein: ENSMUSP00000081319
Gene: ENSMUSG00000028873
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nbl1_Borealin_N
|
19 |
77 |
2.7e-24 |
PFAM |
|
low complexity region
|
109 |
139 |
N/A |
INTRINSIC |
|
Pfam:Borealin
|
173 |
286 |
2.4e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135571
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149146
AA Change: T849A
|
| SMART Domains |
Protein: ENSMUSP00000118801
Gene: ENSMUSG00000028876
AA Change: T849A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (45/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
G |
14: 44,407,899 (GRCm39) |
S45P |
probably damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,961,802 (GRCm39) |
R1124C |
possibly damaging |
Het |
| Anxa13 |
T |
C |
15: 58,228,052 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap32 |
C |
A |
9: 32,093,135 (GRCm39) |
|
probably null |
Het |
| Carm1 |
T |
C |
9: 21,480,822 (GRCm39) |
F99L |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,013,665 (GRCm39) |
E253G |
possibly damaging |
Het |
| Dsg4 |
A |
G |
18: 20,594,493 (GRCm39) |
I541V |
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,362,127 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ear1 |
A |
T |
14: 44,056,721 (GRCm39) |
V49D |
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Fndc8 |
T |
A |
11: 82,783,226 (GRCm39) |
M69K |
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,913,466 (GRCm39) |
I482V |
probably benign |
Het |
| Hivep3 |
G |
A |
4: 119,590,990 (GRCm39) |
|
probably benign |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,356 (GRCm39) |
F82L |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,657,842 (GRCm39) |
R410C |
probably damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,291,699 (GRCm39) |
W296R |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,867,191 (GRCm39) |
Y817* |
probably null |
Het |
| Kif3b |
T |
C |
2: 153,165,564 (GRCm39) |
|
probably null |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,189 (GRCm39) |
V1022A |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,178,741 (GRCm39) |
L223S |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,015 (GRCm39) |
F221L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,353,690 (GRCm39) |
D281G |
possibly damaging |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,319 (GRCm39) |
C1553Y |
probably damaging |
Het |
| Pdgfc |
A |
C |
3: 81,082,298 (GRCm39) |
M164L |
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,333,880 (GRCm39) |
Y47C |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,150,945 (GRCm39) |
I633N |
probably damaging |
Het |
| Pkn1 |
G |
A |
8: 84,419,556 (GRCm39) |
R16* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,269,242 (GRCm39) |
V85A |
probably benign |
Het |
| Ppp4c |
A |
C |
7: 126,386,637 (GRCm39) |
L150R |
probably damaging |
Het |
| Pramel25 |
G |
C |
4: 143,520,553 (GRCm39) |
E102Q |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Rnf144a |
T |
A |
12: 26,377,302 (GRCm39) |
R92S |
probably benign |
Het |
| Sbno2 |
C |
A |
10: 79,896,326 (GRCm39) |
R898L |
possibly damaging |
Het |
| Scnn1b |
A |
C |
7: 121,511,698 (GRCm39) |
N370T |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,672,866 (GRCm39) |
E1302G |
possibly 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 |
|
R1319:Epha10
|
UTSW |
4 |
124,775,707 (GRCm39) |
missense |
probably benign |
|
|
R1544:Epha10
|
UTSW |
4 |
124,779,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCCCTTCCAACTTGGGAAAG -3'
(R):5'- GAACCTCGTTTTAGGACCACTAG -3'
Sequencing Primer
(F):5'- AAAGCCCCATCTGTCCTGG -3'
(R):5'- CCACTAGGTCAGCAAGGTGTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation