Incidental Mutation 'R4507:Epha10'
| ID |
332045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha10
|
| Ensembl Gene |
ENSMUSG00000028876 |
| Gene Name |
Eph receptor A10 |
| Synonyms |
|
| MMRRC Submission |
041756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4507 (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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,601 (GRCm39) |
Y83C |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,953,851 (GRCm39) |
I863N |
probably benign |
Het |
| Abr |
A |
G |
11: 76,342,683 (GRCm39) |
I608T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,565 (GRCm39) |
Y485C |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,374,681 (GRCm39) |
K38E |
possibly damaging |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,027,633 (GRCm39) |
I418L |
probably damaging |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,447,087 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,761 (GRCm39) |
T52A |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,805,771 (GRCm39) |
R3407C |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,759,177 (GRCm39) |
|
probably null |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,406,216 (GRCm39) |
T286A |
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,560,620 (GRCm39) |
I317N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,837,276 (GRCm39) |
L760I |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,387 (GRCm39) |
Y32F |
probably damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mdh1 |
C |
T |
11: 21,508,470 (GRCm39) |
V291M |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,279,415 (GRCm39) |
T963A |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,774,065 (GRCm39) |
F1305L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,201 (GRCm39) |
F29S |
possibly damaging |
Het |
| Parp11 |
A |
G |
6: 127,451,246 (GRCm39) |
R99G |
probably damaging |
Het |
| Phactr1 |
C |
A |
13: 43,250,270 (GRCm39) |
T522N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,014 (GRCm39) |
T1423A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,195,168 (GRCm39) |
I1253V |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,612 (GRCm39) |
Y486C |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,917,701 (GRCm39) |
D506G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,833 (GRCm39) |
I316V |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,013,786 (GRCm39) |
F952I |
probably damaging |
Het |
| Vat1l |
T |
C |
8: 114,932,556 (GRCm39) |
L34P |
probably benign |
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 |
|
|
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