Incidental Mutation 'IGL00542:Ephb4'
| ID |
10501 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ephb4
|
| Ensembl Gene |
ENSMUSG00000029710 |
| Gene Name |
Eph receptor B4 |
| Synonyms |
MDK2, Htk, Myk1, Tyro11 |
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137350109-137378669 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 137365615 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061244]
[ENSMUST00000111054]
[ENSMUST00000111055]
[ENSMUST00000144296]
[ENSMUST00000166239]
|
| AlphaFold |
P54761 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061244
|
| SMART Domains |
Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
| 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 benign
Transcript: ENSMUST00000111054
|
| SMART Domains |
Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
| 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 benign
Transcript: ENSMUST00000111055
|
| SMART Domains |
Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
| 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 benign
Transcript: ENSMUST00000144296
|
| SMART Domains |
Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
| 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 benign
Transcript: ENSMUST00000166239
|
| SMART Domains |
Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Birc6 |
G |
A |
17: 74,623,771 |
|
probably null |
Het |
| Cyp11b1 |
A |
T |
15: 74,835,853 |
|
probably null |
Het |
| Elovl2 |
T |
C |
13: 41,185,314 |
T287A |
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,556,983 |
|
probably null |
Het |
| Impg2 |
C |
T |
16: 56,261,605 |
R858* |
probably null |
Het |
| Lrrk2 |
G |
A |
15: 91,699,943 |
R302Q |
probably benign |
Het |
| Mgat4d |
T |
A |
8: 83,354,796 |
H59Q |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,269,834 |
M96T |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,492,126 |
I1457F |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 69,028,438 |
|
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,336,823 |
D114G |
possibly damaging |
Het |
| Zcchc7 |
C |
T |
4: 44,931,462 |
P217L |
probably benign |
Het |
| Zfat |
T |
G |
15: 68,170,222 |
D821A |
possibly damaging |
Het |
|
| Other mutations in Ephb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Ephb4
|
APN |
5 |
137366659 |
missense |
probably damaging |
1.00 |
|
IGL01653:Ephb4
|
APN |
5 |
137365741 |
splice site |
probably benign |
|
|
IGL01885:Ephb4
|
APN |
5 |
137357797 |
missense |
probably damaging |
1.00 |
|
IGL01906:Ephb4
|
APN |
5 |
137361194 |
missense |
probably damaging |
1.00 |
|
IGL02089:Ephb4
|
APN |
5 |
137370762 |
missense |
probably damaging |
0.98 |
|
IGL02216:Ephb4
|
APN |
5 |
137372070 |
missense |
possibly damaging |
0.92 |
|
IGL02233:Ephb4
|
APN |
5 |
137354501 |
nonsense |
probably null |
|
|
IGL03080:Ephb4
|
APN |
5 |
137354083 |
splice site |
probably benign |
|
|
IGL03111:Ephb4
|
APN |
5 |
137372505 |
missense |
probably benign |
0.07 |
|
R0599:Ephb4
|
UTSW |
5 |
137369855 |
missense |
probably damaging |
1.00 |
|
R0744:Ephb4
|
UTSW |
5 |
137365667 |
missense |
probably damaging |
1.00 |
|
R1331:Ephb4
|
UTSW |
5 |
137366534 |
splice site |
probably benign |
|
|
R1441:Ephb4
|
UTSW |
5 |
137361247 |
missense |
probably damaging |
1.00 |
|
R1732:Ephb4
|
UTSW |
5 |
137372178 |
missense |
possibly damaging |
0.93 |
|
R1745:Ephb4
|
UTSW |
5 |
137360434 |
missense |
probably benign |
|
|
R1831:Ephb4
|
UTSW |
5 |
137354415 |
missense |
probably damaging |
1.00 |
|
R1865:Ephb4
|
UTSW |
5 |
137363310 |
missense |
possibly damaging |
0.53 |
|
R2165:Ephb4
|
UTSW |
5 |
137354426 |
missense |
probably benign |
0.08 |
|
R2206:Ephb4
|
UTSW |
5 |
137357719 |
missense |
probably damaging |
1.00 |
|
R2473:Ephb4
|
UTSW |
5 |
137365700 |
missense |
probably benign |
0.15 |
|
R4779:Ephb4
|
UTSW |
5 |
137365702 |
missense |
probably benign |
0.04 |
|
R4801:Ephb4
|
UTSW |
5 |
137365506 |
missense |
probably damaging |
1.00 |
|
R4802:Ephb4
|
UTSW |
5 |
137365506 |
missense |
probably damaging |
1.00 |
|
R5307:Ephb4
|
UTSW |
5 |
137363312 |
missense |
probably damaging |
1.00 |
|
R5452:Ephb4
|
UTSW |
5 |
137361142 |
missense |
probably damaging |
1.00 |
|
R5458:Ephb4
|
UTSW |
5 |
137369852 |
missense |
probably damaging |
1.00 |
|
R5475:Ephb4
|
UTSW |
5 |
137354439 |
missense |
probably benign |
0.00 |
|
R5662:Ephb4
|
UTSW |
5 |
137372195 |
missense |
probably damaging |
0.98 |
|
R5879:Ephb4
|
UTSW |
5 |
137360416 |
missense |
probably benign |
0.00 |
|
R6336:Ephb4
|
UTSW |
5 |
137372085 |
missense |
probably damaging |
1.00 |
|
R6443:Ephb4
|
UTSW |
5 |
137360449 |
missense |
probably damaging |
1.00 |
|
R6632:Ephb4
|
UTSW |
5 |
137366587 |
missense |
probably damaging |
0.99 |
|
R6973:Ephb4
|
UTSW |
5 |
137369804 |
missense |
probably damaging |
1.00 |
|
R7008:Ephb4
|
UTSW |
5 |
137361274 |
missense |
probably benign |
0.00 |
|
R7145:Ephb4
|
UTSW |
5 |
137372046 |
missense |
probably damaging |
1.00 |
|
R7421:Ephb4
|
UTSW |
5 |
137354425 |
missense |
possibly damaging |
0.88 |
|
R7593:Ephb4
|
UTSW |
5 |
137361298 |
missense |
probably benign |
|
|
R7635:Ephb4
|
UTSW |
5 |
137372103 |
missense |
probably damaging |
1.00 |
|
R7751:Ephb4
|
UTSW |
5 |
137365675 |
missense |
probably damaging |
1.00 |
|
R7825:Ephb4
|
UTSW |
5 |
137372437 |
missense |
probably damaging |
1.00 |
|
R8539:Ephb4
|
UTSW |
5 |
137357855 |
missense |
probably damaging |
1.00 |
|
R8904:Ephb4
|
UTSW |
5 |
137370805 |
missense |
probably damaging |
1.00 |
|
R9228:Ephb4
|
UTSW |
5 |
137354562 |
missense |
possibly damaging |
0.79 |
|
R9327:Ephb4
|
UTSW |
5 |
137363267 |
missense |
probably damaging |
0.99 |
|
R9513:Ephb4
|
UTSW |
5 |
137363302 |
missense |
possibly damaging |
0.76 |
|
R9659:Ephb4
|
UTSW |
5 |
137365481 |
missense |
probably damaging |
1.00 |
|
R9788:Ephb4
|
UTSW |
5 |
137365481 |
missense |
probably damaging |
1.00 |
|
X0026:Ephb4
|
UTSW |
5 |
137373558 |
missense |
probably damaging |
1.00 |
|
Z1177:Ephb4
|
UTSW |
5 |
137361359 |
missense |
probably benign |
0.02 |
|
| Posted On |
2012-12-06 |
Incidental Mutation