Incidental Mutation 'R9494:Epha10'
| ID |
717096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha10
|
| Ensembl Gene |
ENSMUSG00000028876 |
| Gene Name |
Eph receptor A10 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124775408-124811594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124808649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 766
(A766V)
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118801
Gene: ENSMUSG00000028876
AA Change: A766V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
T |
C |
1: 59,206,664 (GRCm39) |
D1593G |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,081,852 (GRCm39) |
P1254T |
probably benign |
Het |
| Brsk2 |
C |
T |
7: 141,555,955 (GRCm39) |
R716C |
possibly damaging |
Het |
| Bzw2 |
T |
A |
12: 36,184,947 (GRCm39) |
M1L |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,901,249 (GRCm39) |
H277L |
possibly damaging |
Het |
| Col6a5 |
A |
T |
9: 105,822,732 (GRCm39) |
D208E |
unknown |
Het |
| Cul3 |
T |
A |
1: 80,255,169 (GRCm39) |
S544C |
probably damaging |
Het |
| Enpp1 |
C |
A |
10: 24,527,234 (GRCm39) |
R651L |
probably benign |
Het |
| Epor |
A |
G |
9: 21,870,522 (GRCm39) |
Y453H |
probably damaging |
Het |
| Fam13a |
T |
C |
6: 58,930,508 (GRCm39) |
K468R |
probably benign |
Het |
| Ffar4 |
C |
T |
19: 38,086,083 (GRCm39) |
A170V |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,583,565 (GRCm39) |
Y410* |
probably null |
Het |
| Gm10203 |
A |
G |
6: 149,031,740 (GRCm39) |
Y15C |
unknown |
Het |
| Kansl1 |
T |
C |
11: 104,247,566 (GRCm39) |
T595A |
probably benign |
Het |
| Lmtk2 |
A |
T |
5: 144,037,338 (GRCm39) |
|
probably benign |
Het |
| Mybl2 |
G |
A |
2: 162,917,843 (GRCm39) |
V69I |
possibly damaging |
Het |
| Myo1d |
T |
C |
11: 80,375,093 (GRCm39) |
K994E |
probably benign |
Het |
| Or5p75-ps1 |
C |
A |
7: 108,107,800 (GRCm39) |
T179K |
unknown |
Het |
| Pcdhga10 |
A |
T |
18: 37,882,421 (GRCm39) |
R727S |
probably benign |
Het |
| Pgp |
T |
A |
17: 24,689,809 (GRCm39) |
L109Q |
probably damaging |
Het |
| Piwil2 |
C |
T |
14: 70,660,421 (GRCm39) |
G68D |
probably benign |
Het |
| Pms2 |
T |
A |
5: 143,853,214 (GRCm39) |
I193N |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,942,390 (GRCm39) |
L1236* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,249,731 (GRCm39) |
V489A |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,429,145 (GRCm39) |
S241P |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,830 (GRCm39) |
K477I |
possibly damaging |
Het |
| Stn1 |
C |
T |
19: 47,513,125 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,070,577 (GRCm39) |
V2403A |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,881,747 (GRCm39) |
M361T |
probably benign |
Het |
| Tbc1d2b |
A |
T |
9: 90,152,563 (GRCm39) |
Y68N |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,845,895 (GRCm39) |
M1K |
probably null |
Het |
| Thsd1 |
C |
T |
8: 22,733,268 (GRCm39) |
P105L |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,904,796 (GRCm39) |
L1187P |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,846,843 (GRCm39) |
T1057A |
probably benign |
Het |
| Tubg1 |
T |
C |
11: 101,011,724 (GRCm39) |
I77T |
probably damaging |
Het |
| Txndc11 |
A |
G |
16: 10,952,156 (GRCm39) |
L73P |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,179 (GRCm39) |
R182* |
probably null |
Het |
| Vangl1 |
T |
C |
3: 102,070,665 (GRCm39) |
S424G |
probably damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,084 (GRCm39) |
W685R |
probably benign |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,768 (GRCm39) |
S272L |
probably damaging |
Het |
| Zbtb18 |
A |
T |
1: 177,275,648 (GRCm39) |
D327V |
probably benign |
Het |
| Zfp607b |
T |
C |
7: 27,403,092 (GRCm39) |
F516S |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,133,468 (GRCm39) |
I175M |
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 |
|
|
|
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 |
|
|
|
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'- CCTAGGTAATCAAGGCCGTG -3'
(R):5'- AGGGCAAATTCCAGGGCATG -3'
Sequencing Primer
(F):5'- TAATCAAGGCCGTGGAGGATG -3'
(R):5'- CCTGATGAGGTAAGATGTGCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation