Incidental Mutation 'R8142:Epha10'
| ID |
632576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha10
|
| Ensembl Gene |
ENSMUSG00000028876 |
| Gene Name |
Eph receptor A10 |
| Synonyms |
|
| MMRRC Submission |
067570-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8142 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124775408-124811594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124779639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 162
(T162A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059343]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059343
AA Change: T162A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050810
Gene: ENSMUSG00000028876
AA Change: T162A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118801
Gene: ENSMUSG00000028876
AA Change: T16A
| 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: 99.7%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 91.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v1e2 |
A |
T |
17: 87,252,083 (GRCm39) |
I105N |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,909,465 (GRCm39) |
S980P |
probably damaging |
Het |
| Ccno |
T |
G |
13: 113,125,489 (GRCm39) |
L151R |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,734,791 (GRCm39) |
I801S |
probably benign |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dab1 |
T |
A |
4: 104,535,921 (GRCm39) |
V110D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,660,189 (GRCm39) |
T828A |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,384,519 (GRCm39) |
V3088L |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,593 (GRCm39) |
D82V |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,912 (GRCm39) |
F185L |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,945,352 (GRCm39) |
D1415V |
probably damaging |
Het |
| Fitm1 |
T |
C |
14: 55,813,247 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,782 (GRCm39) |
E1651* |
probably null |
Het |
| Ifit3 |
G |
T |
19: 34,564,901 (GRCm39) |
C149F |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,616 (GRCm39) |
H465Q |
possibly damaging |
Het |
| Ltn1 |
A |
C |
16: 87,178,529 (GRCm39) |
S1567A |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,908,778 (GRCm39) |
V166A |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,737,448 (GRCm39) |
H424R |
possibly damaging |
Het |
| Mypop |
A |
G |
7: 18,735,051 (GRCm39) |
T383A |
unknown |
Het |
| Ngef |
G |
C |
1: 87,468,463 (GRCm39) |
R99G |
probably benign |
Het |
| Nherf4 |
A |
G |
9: 44,162,078 (GRCm39) |
|
probably null |
Het |
| Npepps |
G |
T |
11: 97,109,398 (GRCm39) |
A726D |
probably damaging |
Het |
| Or6c63-ps1 |
T |
A |
10: 128,900,519 (GRCm39) |
D9V |
probably benign |
Het |
| Pcdhgb4 |
A |
G |
18: 37,854,166 (GRCm39) |
D187G |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,349,269 (GRCm39) |
E1034G |
possibly damaging |
Het |
| Pira1 |
A |
G |
7: 3,739,842 (GRCm39) |
S418P |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,327 (GRCm39) |
R1027H |
probably benign |
Het |
| Pon2 |
A |
T |
6: 5,266,239 (GRCm39) |
V260D |
probably benign |
Het |
| Rnase13 |
A |
G |
14: 52,159,893 (GRCm39) |
I82T |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,546,608 (GRCm39) |
S194P |
probably benign |
Het |
| Serpinb6c |
T |
A |
13: 34,064,096 (GRCm39) |
I320L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,885,205 (GRCm39) |
R363* |
probably null |
Het |
| Slc11a1 |
T |
C |
1: 74,424,418 (GRCm39) |
F500L |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,257,890 (GRCm39) |
|
probably null |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,219,958 (GRCm39) |
N362S |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,530,575 (GRCm39) |
S115P |
unknown |
Het |
| Stk38l |
A |
G |
6: 146,660,070 (GRCm39) |
N34S |
probably benign |
Het |
| Tmem201 |
T |
C |
4: 149,803,114 (GRCm39) |
T585A |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,744,258 (GRCm39) |
I1297F |
possibly damaging |
Het |
| Uncx |
A |
G |
5: 139,532,655 (GRCm39) |
D240G |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,564 (GRCm39) |
I293V |
|
Het |
| Vps11 |
T |
C |
9: 44,265,852 (GRCm39) |
T476A |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,697,395 (GRCm39) |
L715P |
probably damaging |
Het |
| Wdr72 |
T |
G |
9: 74,046,949 (GRCm39) |
V65G |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,752,675 (GRCm39) |
E536G |
probably damaging |
Het |
| Zbtb34 |
G |
T |
2: 33,302,493 (GRCm39) |
S16* |
probably null |
Het |
| Zfhx2 |
G |
A |
14: 55,310,895 (GRCm39) |
L600F |
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 |
|
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 |
|
|
|
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'- TTCGTGGAGCTGCAGTTCAC -3'
(R):5'- TTCCTGGAATCCTGCACTG -3'
Sequencing Primer
(F):5'- AGTTCACACTGCGCGACTG -3'
(R):5'- AGAAGGCGCTCTCAGCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation