Incidental Mutation 'R7421:Ephb4'
| ID |
575653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb4
|
| Ensembl Gene |
ENSMUSG00000029710 |
| Gene Name |
Eph receptor B4 |
| Synonyms |
MDK2, Htk, b2b2412Clo, Myk1, Tyro11 |
| MMRRC Submission |
045499-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137348371-137372784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137352687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 90
(I90K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061244]
[ENSMUST00000111054]
[ENSMUST00000111055]
[ENSMUST00000144296]
[ENSMUST00000166239]
|
| AlphaFold |
P54761 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061244
AA Change: I90K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: I90K
| Domain | Start | End | E-Value | Type |
|---|
|
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
|
Pfam:GCC2_GCC3
|
258 |
301 |
2.6e-11 |
PFAM |
|
FN3
|
324 |
413 |
1.75e-6 |
SMART |
|
FN3
|
434 |
516 |
1.07e-10 |
SMART |
|
Pfam:EphA2_TM
|
540 |
612 |
8.9e-26 |
PFAM |
|
TyrKc
|
615 |
874 |
5.09e-130 |
SMART |
|
SAM
|
904 |
971 |
2.44e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111054
AA Change: I90K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: I90K
| Domain | Start | End | E-Value | Type |
|---|
|
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
|
Pfam:GCC2_GCC3
|
258 |
301 |
1.4e-11 |
PFAM |
|
FN3
|
324 |
413 |
1.75e-6 |
SMART |
|
FN3
|
434 |
516 |
1.07e-10 |
SMART |
|
Pfam:EphA2_TM
|
540 |
612 |
3.4e-26 |
PFAM |
|
TyrKc
|
615 |
874 |
5.09e-130 |
SMART |
|
Pfam:SAM_1
|
882 |
917 |
2.6e-7 |
PFAM |
|
low complexity region
|
919 |
934 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111055
AA Change: I90K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: I90K
| Domain | Start | End | E-Value | Type |
|---|
|
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
|
Pfam:GCC2_GCC3
|
258 |
301 |
4.2e-10 |
PFAM |
|
FN3
|
324 |
413 |
1.75e-6 |
SMART |
|
FN3
|
443 |
525 |
1.07e-10 |
SMART |
|
Pfam:EphA2_TM
|
550 |
621 |
5e-24 |
PFAM |
|
TyrKc
|
624 |
883 |
5.09e-130 |
SMART |
|
SAM
|
913 |
980 |
2.44e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144296
AA Change: I90K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: I90K
| Domain | Start | End | E-Value | Type |
|---|
|
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
|
Pfam:GCC2_GCC3
|
258 |
301 |
2.6e-11 |
PFAM |
|
FN3
|
324 |
413 |
1.75e-6 |
SMART |
|
FN3
|
434 |
516 |
1.07e-10 |
SMART |
|
Pfam:EphA2_TM
|
540 |
612 |
8.9e-26 |
PFAM |
|
TyrKc
|
615 |
874 |
5.09e-130 |
SMART |
|
SAM
|
904 |
971 |
2.44e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166239
AA Change: I90K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: I90K
| Domain | Start | End | E-Value | Type |
|---|
|
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
|
Pfam:GCC2_GCC3
|
258 |
301 |
2.6e-11 |
PFAM |
|
FN3
|
324 |
413 |
1.75e-6 |
SMART |
|
FN3
|
434 |
516 |
1.07e-10 |
SMART |
|
Pfam:EphA2_TM
|
540 |
612 |
8.9e-26 |
PFAM |
|
TyrKc
|
615 |
874 |
5.09e-130 |
SMART |
|
SAM
|
904 |
971 |
2.44e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of 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. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit arrested angiogenesis and heart development and midgestational lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
C |
2: 156,397,915 (GRCm39) |
I309T |
possibly damaging |
Het |
| Abca12 |
A |
C |
1: 71,286,295 (GRCm39) |
L2513* |
probably null |
Het |
| Abca13 |
G |
C |
11: 9,460,463 (GRCm39) |
V4158L |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,254,562 (GRCm39) |
T1880A |
possibly damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,564,783 (GRCm39) |
R585C |
probably benign |
Het |
| Arsk |
A |
C |
13: 76,210,634 (GRCm39) |
I471S |
possibly damaging |
Het |
| Asb7 |
T |
C |
7: 66,309,868 (GRCm39) |
D116G |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,998,322 (GRCm39) |
S17P |
probably benign |
Het |
| Atf5 |
T |
C |
7: 44,464,562 (GRCm39) |
E10G |
probably damaging |
Het |
| B3gntl1 |
G |
T |
11: 121,515,004 (GRCm39) |
P255T |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,014,540 (GRCm39) |
N649S |
probably damaging |
Het |
| Ccnc |
A |
G |
4: 21,743,291 (GRCm39) |
Y192C |
probably damaging |
Het |
| Cd28 |
A |
G |
1: 60,802,459 (GRCm39) |
N126S |
probably benign |
Het |
| Cep57 |
A |
G |
9: 13,721,969 (GRCm39) |
S360P |
possibly damaging |
Het |
| Ces1e |
C |
T |
8: 93,941,703 (GRCm39) |
V257I |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,969,660 (GRCm39) |
K913R |
probably benign |
Het |
| Cluap1 |
A |
T |
16: 3,758,657 (GRCm39) |
D373V |
probably damaging |
Het |
| Cnmd |
T |
C |
14: 79,882,947 (GRCm39) |
I160V |
probably benign |
Het |
| Col6a4 |
G |
A |
9: 105,897,994 (GRCm39) |
P1686S |
probably damaging |
Het |
| Coro7 |
G |
T |
16: 4,486,615 (GRCm39) |
A186E |
probably benign |
Het |
| Cuta |
T |
C |
17: 27,158,431 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,383,631 (GRCm39) |
H1098Y |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,153,711 (GRCm39) |
C345S |
probably damaging |
Het |
| Erich3 |
T |
A |
3: 154,439,198 (GRCm39) |
M280K |
probably damaging |
Het |
| Fcer2a |
T |
A |
8: 3,740,335 (GRCm39) |
H4L |
probably benign |
Het |
| Grk1 |
A |
T |
8: 13,455,316 (GRCm39) |
I67F |
probably damaging |
Het |
| Grm8 |
A |
C |
6: 27,762,476 (GRCm39) |
S250A |
possibly damaging |
Het |
| H2-Q6 |
A |
G |
17: 35,644,204 (GRCm39) |
E62G |
possibly damaging |
Het |
| Inppl1 |
C |
T |
7: 101,482,144 (GRCm39) |
R144H |
probably damaging |
Het |
| Itga3 |
G |
T |
11: 94,959,681 (GRCm39) |
P33Q |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,739,604 (GRCm39) |
S672N |
probably damaging |
Het |
| Itpk1 |
A |
T |
12: 102,540,324 (GRCm39) |
V253E |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Mrps7 |
T |
C |
11: 115,495,717 (GRCm39) |
V85A |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,301,863 (GRCm39) |
L427P |
|
Het |
| Myef2 |
G |
T |
2: 124,952,537 (GRCm39) |
Q185K |
probably benign |
Het |
| Or1e1b-ps1 |
G |
T |
11: 73,846,335 (GRCm39) |
C273F |
unknown |
Het |
| Or4a76 |
T |
A |
2: 89,460,915 (GRCm39) |
D109V |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,289,897 (GRCm39) |
M905I |
possibly damaging |
Het |
| Pgm5 |
C |
T |
19: 24,686,663 (GRCm39) |
V515M |
probably benign |
Het |
| Pik3r1 |
A |
G |
13: 101,825,644 (GRCm39) |
I381T |
probably damaging |
Het |
| Pla2g4f |
A |
G |
2: 120,137,737 (GRCm39) |
M341T |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,056,912 (GRCm39) |
F204L |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,068,587 (GRCm39) |
S244T |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,493,500 (GRCm39) |
V50A |
unknown |
Het |
| Scn7a |
A |
C |
2: 66,505,876 (GRCm39) |
I1671S |
probably benign |
Het |
| Sco2 |
G |
A |
15: 89,255,923 (GRCm39) |
R244C |
possibly damaging |
Het |
| Skic3 |
A |
T |
13: 76,296,944 (GRCm39) |
K1100N |
probably benign |
Het |
| Slfn1 |
A |
G |
11: 83,011,967 (GRCm39) |
M28V |
possibly damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
| Slfn9 |
A |
G |
11: 82,878,562 (GRCm39) |
I189T |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,056,109 (GRCm39) |
S327R |
probably benign |
Het |
| Tcaf3 |
A |
T |
6: 42,573,776 (GRCm39) |
N145K |
probably benign |
Het |
| Trarg1 |
G |
A |
11: 76,585,051 (GRCm39) |
R147Q |
unknown |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Upp2 |
G |
T |
2: 58,661,586 (GRCm39) |
V130F |
possibly damaging |
Het |
| Vnn3 |
G |
A |
10: 23,741,666 (GRCm39) |
A324T |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,912,412 (GRCm39) |
E88G |
unknown |
Het |
| Zfp39 |
A |
T |
11: 58,780,933 (GRCm39) |
C610S |
probably damaging |
Het |
|
| Other mutations in Ephb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00542:Ephb4
|
APN |
5 |
137,363,877 (GRCm39) |
splice site |
probably benign |
|
|
IGL00948:Ephb4
|
APN |
5 |
137,364,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01653:Ephb4
|
APN |
5 |
137,364,003 (GRCm39) |
splice site |
probably benign |
|
|
IGL01885:Ephb4
|
APN |
5 |
137,356,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01906:Ephb4
|
APN |
5 |
137,359,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02089:Ephb4
|
APN |
5 |
137,369,024 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02216:Ephb4
|
APN |
5 |
137,370,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02233:Ephb4
|
APN |
5 |
137,352,763 (GRCm39) |
nonsense |
probably null |
|
|
IGL03080:Ephb4
|
APN |
5 |
137,352,345 (GRCm39) |
splice site |
probably benign |
|
|
IGL03111:Ephb4
|
APN |
5 |
137,370,767 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0599:Ephb4
|
UTSW |
5 |
137,368,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Ephb4
|
UTSW |
5 |
137,363,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1331:Ephb4
|
UTSW |
5 |
137,364,796 (GRCm39) |
splice site |
probably benign |
|
|
R1441:Ephb4
|
UTSW |
5 |
137,359,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Ephb4
|
UTSW |
5 |
137,370,440 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1745:Ephb4
|
UTSW |
5 |
137,358,696 (GRCm39) |
missense |
probably benign |
|
|
R1831:Ephb4
|
UTSW |
5 |
137,352,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Ephb4
|
UTSW |
5 |
137,361,572 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2165:Ephb4
|
UTSW |
5 |
137,352,688 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2206:Ephb4
|
UTSW |
5 |
137,355,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2473:Ephb4
|
UTSW |
5 |
137,363,962 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4779:Ephb4
|
UTSW |
5 |
137,363,964 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4801:Ephb4
|
UTSW |
5 |
137,363,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Ephb4
|
UTSW |
5 |
137,363,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Ephb4
|
UTSW |
5 |
137,361,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5452:Ephb4
|
UTSW |
5 |
137,359,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Ephb4
|
UTSW |
5 |
137,368,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Ephb4
|
UTSW |
5 |
137,352,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5662:Ephb4
|
UTSW |
5 |
137,370,457 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5879:Ephb4
|
UTSW |
5 |
137,358,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6336:Ephb4
|
UTSW |
5 |
137,370,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6443:Ephb4
|
UTSW |
5 |
137,358,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6632:Ephb4
|
UTSW |
5 |
137,364,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6973:Ephb4
|
UTSW |
5 |
137,368,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Ephb4
|
UTSW |
5 |
137,359,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Ephb4
|
UTSW |
5 |
137,370,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Ephb4
|
UTSW |
5 |
137,359,560 (GRCm39) |
missense |
probably benign |
|
|
R7635:Ephb4
|
UTSW |
5 |
137,370,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Ephb4
|
UTSW |
5 |
137,363,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7825:Ephb4
|
UTSW |
5 |
137,370,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8539:Ephb4
|
UTSW |
5 |
137,356,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8904:Ephb4
|
UTSW |
5 |
137,369,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Ephb4
|
UTSW |
5 |
137,352,824 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9327:Ephb4
|
UTSW |
5 |
137,361,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9513:Ephb4
|
UTSW |
5 |
137,361,564 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9659:Ephb4
|
UTSW |
5 |
137,363,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Ephb4
|
UTSW |
5 |
137,363,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Ephb4
|
UTSW |
5 |
137,371,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ephb4
|
UTSW |
5 |
137,359,621 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTCCGAGATACTTGTTTCC -3'
(R):5'- TTGTAGTGGCATCGATCCCC -3'
Sequencing Primer
(F):5'- TAGCTAGACGTCCTGACTGACAG -3'
(R):5'- CCCAGACTGTTGGTACCTTGATG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation