Incidental Mutation 'IGL02233:Ephb4'
| ID |
285810 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ephb4
|
| Ensembl Gene |
ENSMUSG00000029710 |
| Gene Name |
Eph receptor B4 |
| Synonyms |
MDK2, Htk, b2b2412Clo, Myk1, Tyro11 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137348371-137372784 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 137352763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 115
(Y115*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061244]
[ENSMUST00000111054]
[ENSMUST00000111055]
[ENSMUST00000144296]
[ENSMUST00000166239]
|
| AlphaFold |
P54761 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061244
AA Change: Y115*
|
| SMART Domains |
Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: Y115*
| 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 |
probably null
Transcript: ENSMUST00000111054
AA Change: Y115*
|
| SMART Domains |
Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: Y115*
| 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 |
probably null
Transcript: ENSMUST00000111055
AA Change: Y115*
|
| SMART Domains |
Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: Y115*
| 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 |
probably null
Transcript: ENSMUST00000144296
AA Change: Y115*
|
| SMART Domains |
Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: Y115*
| 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 |
probably null
Transcript: ENSMUST00000166239
AA Change: Y115*
|
| SMART Domains |
Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: Y115*
| 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 |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,165,170 (GRCm39) |
Q1581* |
probably null |
Het |
| Abcc10 |
A |
T |
17: 46,635,085 (GRCm39) |
|
probably null |
Het |
| Adam25 |
A |
G |
8: 41,208,423 (GRCm39) |
Y563C |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,522 (GRCm39) |
I200N |
possibly damaging |
Het |
| Col5a2 |
T |
C |
1: 45,422,747 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
T |
C |
6: 30,557,666 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,917,953 (GRCm39) |
V534A |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 92,093,746 (GRCm39) |
D845V |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,925,487 (GRCm39) |
|
probably null |
Het |
| Evc2 |
A |
G |
5: 37,535,681 (GRCm39) |
Y452C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,163,530 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
A |
T |
10: 75,844,334 (GRCm39) |
|
probably null |
Het |
| Gpr157 |
A |
G |
4: 150,186,184 (GRCm39) |
T249A |
possibly damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,308 (GRCm39) |
T91A |
probably benign |
Het |
| Lin9 |
C |
A |
1: 180,516,865 (GRCm39) |
A535E |
probably damaging |
Het |
| Muc1 |
G |
A |
3: 89,138,935 (GRCm39) |
V515I |
probably benign |
Het |
| Mup3 |
A |
G |
4: 62,003,016 (GRCm39) |
I170T |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,291,081 (GRCm39) |
|
probably benign |
Het |
| Or3a1d |
A |
G |
11: 74,238,254 (GRCm39) |
V52A |
possibly damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,538 (GRCm39) |
Y259C |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 109,877,084 (GRCm39) |
S202P |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,158,185 (GRCm39) |
V676A |
probably benign |
Het |
| Rasl10a |
C |
A |
11: 5,008,333 (GRCm39) |
L10M |
probably damaging |
Het |
| Rilp |
T |
C |
11: 75,403,538 (GRCm39) |
Y327H |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,380,903 (GRCm39) |
S957G |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,406,050 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,555,257 (GRCm39) |
H209R |
probably benign |
Het |
| Trav14-3 |
T |
C |
14: 54,000,643 (GRCm39) |
|
probably benign |
Het |
| Vipr2 |
A |
G |
12: 116,058,356 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
|
R7421:Ephb4
|
UTSW |
5 |
137,352,687 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation