Incidental Mutation 'R4111:Epha1'
ID |
317301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha1
|
Ensembl Gene |
ENSMUSG00000029859 |
Gene Name |
Eph receptor A1 |
Synonyms |
Esk, 5730453L17Rik, Eph |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R4111 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
42335421-42350202 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 42335772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 955
(T955M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070635]
[ENSMUST00000073387]
[ENSMUST00000164375]
[ENSMUST00000203401]
[ENSMUST00000203652]
[ENSMUST00000204357]
|
AlphaFold |
Q60750 |
PDB Structure |
The solution structure of the second fibronectin type III domain of mouse Ephrin type-A receptor 1 [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070635
|
SMART Domains |
Protein: ENSMUSP00000070427 Gene: ENSMUSG00000029860
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
low complexity region
|
199 |
220 |
N/A |
INTRINSIC |
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
low complexity region
|
343 |
363 |
N/A |
INTRINSIC |
LIM
|
375 |
428 |
2.4e-17 |
SMART |
LIM
|
435 |
487 |
7.39e-18 |
SMART |
LIM
|
495 |
557 |
9.31e-15 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073387
AA Change: T955M
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000073099 Gene: ENSMUSG00000029859 AA Change: T955M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
EPH_lbd
|
28 |
205 |
3.23e-103 |
SMART |
FN3
|
334 |
430 |
8.43e-9 |
SMART |
FN3
|
448 |
526 |
1.59e-4 |
SMART |
Pfam:EphA2_TM
|
549 |
622 |
3.4e-13 |
PFAM |
TyrKc
|
625 |
881 |
2.57e-126 |
SMART |
SAM
|
911 |
977 |
4.13e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164375
|
SMART Domains |
Protein: ENSMUSP00000126622 Gene: ENSMUSG00000029860
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
low complexity region
|
199 |
220 |
N/A |
INTRINSIC |
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
low complexity region
|
343 |
363 |
N/A |
INTRINSIC |
LIM
|
375 |
428 |
2.4e-17 |
SMART |
LIM
|
435 |
487 |
7.39e-18 |
SMART |
LIM
|
495 |
557 |
9.31e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203290
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203401
|
SMART Domains |
Protein: ENSMUSP00000145236 Gene: ENSMUSG00000029860
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
low complexity region
|
168 |
189 |
N/A |
INTRINSIC |
low complexity region
|
219 |
235 |
N/A |
INTRINSIC |
low complexity region
|
238 |
252 |
N/A |
INTRINSIC |
low complexity region
|
292 |
302 |
N/A |
INTRINSIC |
low complexity region
|
312 |
332 |
N/A |
INTRINSIC |
LIM
|
344 |
397 |
2.4e-17 |
SMART |
LIM
|
404 |
456 |
7.39e-18 |
SMART |
LIM
|
464 |
526 |
9.31e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203652
|
SMART Domains |
Protein: ENSMUSP00000145451 Gene: ENSMUSG00000029860
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
low complexity region
|
199 |
220 |
N/A |
INTRINSIC |
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
low complexity region
|
343 |
363 |
N/A |
INTRINSIC |
LIM
|
375 |
428 |
2.4e-17 |
SMART |
LIM
|
435 |
487 |
7.39e-18 |
SMART |
LIM
|
495 |
557 |
9.31e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204357
AA Change: T923M
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144763 Gene: ENSMUSG00000029859 AA Change: T923M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
EPH_lbd
|
28 |
205 |
1.1e-105 |
SMART |
FN3
|
334 |
430 |
4.2e-11 |
SMART |
low complexity region
|
459 |
473 |
N/A |
INTRINSIC |
FN3
|
483 |
563 |
2.4e-8 |
SMART |
Pfam:EphA2_TM
|
586 |
659 |
7.6e-11 |
PFAM |
STYKc
|
662 |
849 |
1.1e-65 |
SMART |
SAM
|
879 |
945 |
2.5e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204480
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204270
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008] PHENOTYPE: Most mice homozygous for a null allele exhibit a kinked tail while 18% of mice exhibit vagina atresia with hydrometrocolops and infertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Acot10 |
A |
T |
15: 20,666,612 (GRCm39) |
L43Q |
probably damaging |
Het |
Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
Ambra1 |
T |
C |
2: 91,730,903 (GRCm39) |
S894P |
probably damaging |
Het |
Arhgef12 |
C |
A |
9: 42,883,570 (GRCm39) |
G1320C |
probably damaging |
Het |
Atg7 |
G |
C |
6: 114,690,255 (GRCm39) |
G596R |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,873,010 (GRCm39) |
V423A |
probably damaging |
Het |
Bltp3a |
T |
A |
17: 28,105,064 (GRCm39) |
L586* |
probably null |
Het |
Cdh17 |
T |
C |
4: 11,814,628 (GRCm39) |
S728P |
probably damaging |
Het |
Ctu2 |
G |
A |
8: 123,203,256 (GRCm39) |
R24Q |
possibly damaging |
Het |
Dclk3 |
T |
C |
9: 111,298,148 (GRCm39) |
I564T |
probably damaging |
Het |
Ddx39b |
T |
A |
17: 35,462,340 (GRCm39) |
I42N |
possibly damaging |
Het |
Defa39 |
T |
C |
8: 22,192,679 (GRCm39) |
T106A |
possibly damaging |
Het |
Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
Dzip1 |
T |
A |
14: 119,114,645 (GRCm39) |
K837* |
probably null |
Het |
Etfbkmt |
T |
C |
6: 149,046,089 (GRCm39) |
|
probably benign |
Het |
Etfrf1 |
T |
C |
6: 145,161,098 (GRCm39) |
Y23H |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
Gpr37l1 |
T |
C |
1: 135,095,008 (GRCm39) |
T79A |
possibly damaging |
Het |
Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
Ifnar1 |
C |
A |
16: 91,293,046 (GRCm39) |
P230T |
probably damaging |
Het |
Impact |
T |
C |
18: 13,109,090 (GRCm39) |
|
probably null |
Het |
Kcna6 |
G |
C |
6: 126,716,737 (GRCm39) |
R51G |
probably damaging |
Het |
Lrpprc |
G |
A |
17: 85,033,766 (GRCm39) |
T1037M |
probably benign |
Het |
Or10g9 |
C |
A |
9: 39,912,194 (GRCm39) |
E110* |
probably null |
Het |
Or4a2 |
C |
A |
2: 89,248,444 (GRCm39) |
L104F |
probably benign |
Het |
Or5an6 |
T |
C |
19: 12,371,665 (GRCm39) |
F13L |
probably damaging |
Het |
Or6n2 |
T |
A |
1: 173,896,999 (GRCm39) |
I45N |
probably damaging |
Het |
Pask |
A |
G |
1: 93,238,540 (GRCm39) |
V1315A |
probably damaging |
Het |
Pramel16 |
T |
A |
4: 143,676,475 (GRCm39) |
I210F |
possibly damaging |
Het |
Prl7a2 |
A |
T |
13: 27,849,050 (GRCm39) |
Y80N |
possibly damaging |
Het |
Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
Rtn2 |
T |
C |
7: 19,020,769 (GRCm39) |
S81P |
probably damaging |
Het |
Sbf2 |
G |
A |
7: 110,027,449 (GRCm39) |
P470S |
probably damaging |
Het |
Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
Sox30 |
A |
G |
11: 45,908,041 (GRCm39) |
Y736C |
probably benign |
Het |
Srsf3-ps |
A |
T |
11: 98,516,223 (GRCm39) |
V50D |
probably damaging |
Het |
Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
Tbr1 |
C |
T |
2: 61,642,076 (GRCm39) |
P184L |
probably benign |
Het |
Tns1 |
T |
C |
1: 73,981,091 (GRCm39) |
N1091S |
probably damaging |
Het |
Trappc10 |
A |
G |
10: 78,032,264 (GRCm39) |
F1008S |
probably benign |
Het |
Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
Vmn1r122 |
A |
T |
7: 20,867,438 (GRCm39) |
S206T |
probably damaging |
Het |
Vmn2r1 |
A |
C |
3: 63,997,176 (GRCm39) |
K277N |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,617,992 (GRCm39) |
E2931G |
probably damaging |
Het |
Wdr70 |
G |
T |
15: 8,006,472 (GRCm39) |
Q360K |
probably benign |
Het |
Wdr90 |
G |
T |
17: 26,068,342 (GRCm39) |
Q1329K |
possibly damaging |
Het |
Wrn |
T |
C |
8: 33,842,183 (GRCm39) |
N37S |
probably benign |
Het |
Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
Zfp964 |
T |
A |
8: 70,116,754 (GRCm39) |
S450R |
probably benign |
Het |
Zkscan2 |
T |
C |
7: 123,081,907 (GRCm39) |
|
probably benign |
Het |
Zmynd10 |
A |
T |
9: 107,426,251 (GRCm39) |
K133* |
probably null |
Het |
|
Other mutations in Epha1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01591:Epha1
|
APN |
6 |
42,337,485 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02388:Epha1
|
APN |
6 |
42,341,950 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02614:Epha1
|
APN |
6 |
42,337,491 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03019:Epha1
|
APN |
6 |
42,339,686 (GRCm39) |
missense |
probably damaging |
1.00 |
buddy
|
UTSW |
6 |
42,338,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R0369:Epha1
|
UTSW |
6 |
42,342,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R0894:Epha1
|
UTSW |
6 |
42,340,756 (GRCm39) |
missense |
probably benign |
0.45 |
R1353:Epha1
|
UTSW |
6 |
42,338,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R1451:Epha1
|
UTSW |
6 |
42,338,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R1840:Epha1
|
UTSW |
6 |
42,340,522 (GRCm39) |
missense |
probably damaging |
0.99 |
R2064:Epha1
|
UTSW |
6 |
42,342,987 (GRCm39) |
missense |
probably benign |
0.01 |
R2065:Epha1
|
UTSW |
6 |
42,342,987 (GRCm39) |
missense |
probably benign |
0.01 |
R2067:Epha1
|
UTSW |
6 |
42,342,987 (GRCm39) |
missense |
probably benign |
0.01 |
R2087:Epha1
|
UTSW |
6 |
42,340,502 (GRCm39) |
missense |
probably benign |
0.01 |
R3691:Epha1
|
UTSW |
6 |
42,338,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R3952:Epha1
|
UTSW |
6 |
42,341,219 (GRCm39) |
missense |
probably damaging |
0.99 |
R4280:Epha1
|
UTSW |
6 |
42,341,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R4369:Epha1
|
UTSW |
6 |
42,342,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R4371:Epha1
|
UTSW |
6 |
42,342,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R4491:Epha1
|
UTSW |
6 |
42,337,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R4743:Epha1
|
UTSW |
6 |
42,349,155 (GRCm39) |
missense |
probably benign |
0.00 |
R4838:Epha1
|
UTSW |
6 |
42,340,750 (GRCm39) |
missense |
probably benign |
0.04 |
R4847:Epha1
|
UTSW |
6 |
42,338,848 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4857:Epha1
|
UTSW |
6 |
42,338,416 (GRCm39) |
missense |
probably benign |
0.00 |
R4884:Epha1
|
UTSW |
6 |
42,337,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R4929:Epha1
|
UTSW |
6 |
42,341,533 (GRCm39) |
missense |
probably benign |
0.05 |
R5239:Epha1
|
UTSW |
6 |
42,341,944 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5416:Epha1
|
UTSW |
6 |
42,342,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R5595:Epha1
|
UTSW |
6 |
42,341,568 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5838:Epha1
|
UTSW |
6 |
42,338,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Epha1
|
UTSW |
6 |
42,343,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R6594:Epha1
|
UTSW |
6 |
42,341,625 (GRCm39) |
missense |
probably benign |
|
R6639:Epha1
|
UTSW |
6 |
42,342,869 (GRCm39) |
nonsense |
probably null |
|
R7092:Epha1
|
UTSW |
6 |
42,341,179 (GRCm39) |
missense |
probably benign |
0.36 |
R7569:Epha1
|
UTSW |
6 |
42,342,356 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7705:Epha1
|
UTSW |
6 |
42,339,602 (GRCm39) |
missense |
probably damaging |
0.99 |
R7802:Epha1
|
UTSW |
6 |
42,338,875 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8306:Epha1
|
UTSW |
6 |
42,335,722 (GRCm39) |
missense |
probably damaging |
0.97 |
R8835:Epha1
|
UTSW |
6 |
42,342,723 (GRCm39) |
missense |
probably benign |
0.00 |
R8881:Epha1
|
UTSW |
6 |
42,337,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R9251:Epha1
|
UTSW |
6 |
42,341,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R9525:Epha1
|
UTSW |
6 |
42,344,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTCCTTGGTTCAAAGGC -3'
(R):5'- ATGAAGCGCTACATCCTGCAC -3'
Sequencing Primer
(F):5'- CTCCTTGGTTCAAAGGCAGAGTTC -3'
(R):5'- ACTTCCGTTCGGCTGGG -3'
|
Posted On |
2015-05-15 |