Incidental Mutation 'IGL03080:Ephb4'
ID |
417843 |
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 # |
IGL03080
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
137348371-137372784 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 137352345 bp (GRCm39)
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abce1 |
T |
C |
8: 80,429,630 (GRCm39) |
|
probably null |
Het |
Adgrf3 |
T |
C |
5: 30,401,827 (GRCm39) |
M734V |
probably benign |
Het |
Aqp8 |
T |
G |
7: 123,065,802 (GRCm39) |
|
probably benign |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cntn4 |
A |
G |
6: 106,632,500 (GRCm39) |
D508G |
probably damaging |
Het |
Cyp11b1 |
A |
T |
15: 74,711,285 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
G |
17: 30,937,980 (GRCm39) |
D1619G |
probably benign |
Het |
Eif1ad17 |
A |
T |
12: 87,978,615 (GRCm39) |
|
probably benign |
Het |
Ffar3 |
A |
T |
7: 30,554,747 (GRCm39) |
V191E |
probably damaging |
Het |
Galnt1 |
T |
A |
18: 24,402,574 (GRCm39) |
D310E |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,945,563 (GRCm39) |
Y342C |
probably benign |
Het |
Jade1 |
T |
A |
3: 41,554,510 (GRCm39) |
C251* |
probably null |
Het |
Jhy |
T |
C |
9: 40,855,653 (GRCm39) |
E278G |
probably damaging |
Het |
Kif24 |
A |
C |
4: 41,394,417 (GRCm39) |
S819A |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,712,996 (GRCm39) |
L344P |
probably damaging |
Het |
Lrrc27 |
A |
G |
7: 138,810,153 (GRCm39) |
T375A |
probably benign |
Het |
Mbd3 |
C |
T |
10: 80,229,085 (GRCm39) |
R204Q |
probably damaging |
Het |
Nab2 |
T |
C |
10: 127,500,663 (GRCm39) |
N143S |
possibly damaging |
Het |
Nkiras2 |
T |
C |
11: 100,515,105 (GRCm39) |
|
probably null |
Het |
Or7e174 |
A |
T |
9: 20,012,705 (GRCm39) |
I217F |
probably damaging |
Het |
Palm |
C |
A |
10: 79,654,951 (GRCm39) |
H74Q |
probably damaging |
Het |
Pros1 |
T |
A |
16: 62,738,506 (GRCm39) |
N408K |
probably damaging |
Het |
Psg23 |
T |
A |
7: 18,340,910 (GRCm39) |
Y448F |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,312,613 (GRCm39) |
P1111Q |
probably benign |
Het |
Rims2 |
A |
G |
15: 39,399,299 (GRCm39) |
S1115G |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,528,160 (GRCm39) |
T777A |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,119,816 (GRCm39) |
D428G |
probably damaging |
Het |
Stard3nl |
A |
T |
13: 19,554,648 (GRCm39) |
|
probably null |
Het |
Sult1d1 |
T |
C |
5: 87,704,847 (GRCm39) |
D214G |
probably benign |
Het |
Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
Tmprss2 |
T |
C |
16: 97,398,044 (GRCm39) |
Y44C |
probably damaging |
Het |
Ttk |
A |
G |
9: 83,725,136 (GRCm39) |
N154D |
probably damaging |
Het |
Tut4 |
T |
A |
4: 108,363,021 (GRCm39) |
S444R |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,295,896 (GRCm39) |
Y108H |
probably damaging |
Het |
Vmn2r44 |
C |
A |
7: 8,386,244 (GRCm39) |
|
probably benign |
Het |
Zfand1 |
A |
G |
3: 10,405,797 (GRCm39) |
*269Q |
probably null |
Het |
Zfp142 |
A |
T |
1: 74,610,368 (GRCm39) |
D1039E |
probably benign |
Het |
Zkscan5 |
G |
T |
5: 145,155,460 (GRCm39) |
S377I |
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 |
|
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 |
2016-08-02 |