Incidental Mutation 'R1732:Ephb4'
ID |
199378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb4
|
Ensembl Gene |
ENSMUSG00000029710 |
Gene Name |
Eph receptor B4 |
Synonyms |
MDK2, Htk, b2b2412Clo, Myk1, Tyro11 |
MMRRC Submission |
039764-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1732 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137348371-137372784 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137370440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 880
(N880S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061244]
[ENSMUST00000111054]
[ENSMUST00000111055]
[ENSMUST00000144296]
[ENSMUST00000166239]
|
AlphaFold |
P54761 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061244
AA Change: N880S
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000051622 Gene: ENSMUSG00000029710 AA Change: N880S
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: N880S
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106683 Gene: ENSMUSG00000029710 AA Change: N880S
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: N889S
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106684 Gene: ENSMUSG00000029710 AA Change: N889S
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: N880S
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000115731 Gene: ENSMUSG00000029710 AA Change: N880S
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: N880S
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130275 Gene: ENSMUSG00000029710 AA Change: N880S
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 |
|
Meta Mutation Damage Score |
0.1007 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.6%
|
Validation Efficiency |
99% (78/79) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
A |
12: 71,265,995 (GRCm39) |
Q1445K |
probably benign |
Het |
Acacb |
A |
T |
5: 114,328,148 (GRCm39) |
M303L |
possibly damaging |
Het |
Actl9 |
T |
C |
17: 33,652,096 (GRCm39) |
V52A |
probably damaging |
Het |
Adam7 |
T |
C |
14: 68,735,899 (GRCm39) |
T781A |
probably benign |
Het |
Agpat4 |
T |
C |
17: 12,435,615 (GRCm39) |
V293A |
probably benign |
Het |
Ank1 |
T |
A |
8: 23,601,479 (GRCm39) |
|
probably benign |
Het |
Atp1a1 |
C |
A |
3: 101,492,115 (GRCm39) |
G587V |
probably damaging |
Het |
Avpr1b |
T |
C |
1: 131,527,992 (GRCm39) |
F172L |
probably damaging |
Het |
Bmp1 |
A |
T |
14: 70,723,705 (GRCm39) |
D710E |
possibly damaging |
Het |
Cep126 |
A |
T |
9: 8,099,762 (GRCm39) |
I924N |
probably benign |
Het |
Chek2 |
G |
T |
5: 111,019,968 (GRCm39) |
A517S |
probably benign |
Het |
Cmbl |
A |
T |
15: 31,588,378 (GRCm39) |
E165D |
probably damaging |
Het |
Cntnap3 |
A |
T |
13: 64,888,626 (GRCm39) |
|
probably null |
Het |
Col1a1 |
A |
T |
11: 94,835,241 (GRCm39) |
|
probably benign |
Het |
Ctbp2 |
T |
C |
7: 132,600,653 (GRCm39) |
M624V |
possibly damaging |
Het |
Cwc15 |
A |
G |
9: 14,421,543 (GRCm39) |
D203G |
probably benign |
Het |
Cyld |
C |
T |
8: 89,458,295 (GRCm39) |
|
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,302,455 (GRCm39) |
I84F |
probably damaging |
Het |
Dennd3 |
T |
A |
15: 73,409,267 (GRCm39) |
|
probably benign |
Het |
Desi2 |
A |
C |
1: 178,084,217 (GRCm39) |
|
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,026,511 (GRCm39) |
L1873* |
probably null |
Het |
Dmxl1 |
T |
A |
18: 50,036,055 (GRCm39) |
H2359Q |
probably benign |
Het |
F10 |
T |
C |
8: 13,100,764 (GRCm39) |
L214P |
probably damaging |
Het |
F5 |
G |
A |
1: 164,001,719 (GRCm39) |
V141M |
probably damaging |
Het |
Fam135a |
A |
T |
1: 24,065,734 (GRCm39) |
S1022T |
possibly damaging |
Het |
Fam13b |
A |
T |
18: 34,620,187 (GRCm39) |
N232K |
probably benign |
Het |
Fyco1 |
T |
C |
9: 123,648,157 (GRCm39) |
E1259G |
probably benign |
Het |
Gak |
A |
T |
5: 108,724,448 (GRCm39) |
D1087E |
probably benign |
Het |
Gm7138 |
A |
T |
10: 77,612,682 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,962 (GRCm39) |
|
noncoding transcript |
Het |
Gpr25 |
A |
G |
1: 136,187,866 (GRCm39) |
V249A |
probably benign |
Het |
Hcn3 |
T |
C |
3: 89,055,426 (GRCm39) |
H607R |
probably damaging |
Het |
Hdac4 |
T |
A |
1: 91,875,257 (GRCm39) |
T905S |
probably benign |
Het |
Itgad |
T |
C |
7: 127,804,279 (GRCm39) |
S86P |
probably benign |
Het |
Itgb4 |
G |
T |
11: 115,879,744 (GRCm39) |
R632L |
probably damaging |
Het |
Kcnb2 |
A |
T |
1: 15,779,979 (GRCm39) |
T284S |
probably benign |
Het |
Klhl22 |
T |
A |
16: 17,594,888 (GRCm39) |
M339K |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Mybpc2 |
C |
A |
7: 44,163,099 (GRCm39) |
V484L |
probably benign |
Het |
Noa1 |
A |
T |
5: 77,454,221 (GRCm39) |
V473E |
probably benign |
Het |
Nwd1 |
C |
G |
8: 73,393,463 (GRCm39) |
S242C |
possibly damaging |
Het |
Or55b10 |
C |
A |
7: 102,143,247 (GRCm39) |
C245F |
probably damaging |
Het |
Or7e174 |
A |
G |
9: 20,012,796 (GRCm39) |
H247R |
probably damaging |
Het |
Otof |
A |
T |
5: 30,543,815 (GRCm39) |
W535R |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,712,084 (GRCm39) |
E1046G |
possibly damaging |
Het |
Phldb2 |
T |
C |
16: 45,577,529 (GRCm39) |
E1132G |
probably damaging |
Het |
Phtf2 |
A |
T |
5: 20,994,625 (GRCm39) |
|
probably null |
Het |
Plce1 |
G |
T |
19: 38,705,282 (GRCm39) |
A896S |
possibly damaging |
Het |
Prim1 |
T |
C |
10: 127,851,193 (GRCm39) |
Y26H |
probably damaging |
Het |
Prr12 |
T |
A |
7: 44,697,780 (GRCm39) |
T712S |
unknown |
Het |
Psme4 |
G |
A |
11: 30,798,105 (GRCm39) |
R1366H |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,740,021 (GRCm39) |
E409G |
probably benign |
Het |
Rabep1 |
A |
G |
11: 70,795,467 (GRCm39) |
N274S |
probably damaging |
Het |
Rbm14 |
A |
G |
19: 4,853,495 (GRCm39) |
S296P |
probably benign |
Het |
Rec114 |
A |
G |
9: 58,560,389 (GRCm39) |
S206P |
probably damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,587,381 (GRCm39) |
Y531N |
probably damaging |
Het |
Slc28a2 |
T |
C |
2: 122,280,239 (GRCm39) |
|
probably benign |
Het |
Slc34a1 |
A |
G |
13: 55,561,233 (GRCm39) |
H566R |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,373,291 (GRCm39) |
T290A |
probably benign |
Het |
Smarcc1 |
T |
A |
9: 110,014,888 (GRCm39) |
|
probably benign |
Het |
Srp54b |
T |
A |
12: 55,299,544 (GRCm39) |
|
probably null |
Het |
Stambpl1 |
C |
G |
19: 34,204,121 (GRCm39) |
N70K |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,761,118 (GRCm39) |
K710E |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,763,669 (GRCm39) |
D795V |
probably damaging |
Het |
Tgm2 |
T |
C |
2: 157,976,277 (GRCm39) |
Y149C |
probably damaging |
Het |
Tmem151a |
C |
A |
19: 5,132,895 (GRCm39) |
A104S |
probably damaging |
Het |
Top1mt |
A |
G |
15: 75,538,100 (GRCm39) |
|
probably null |
Het |
Tpgs1 |
T |
A |
10: 79,511,428 (GRCm39) |
L190Q |
possibly damaging |
Het |
Triobp |
T |
A |
15: 78,851,428 (GRCm39) |
H527Q |
possibly damaging |
Het |
Tspan2 |
A |
G |
3: 102,676,193 (GRCm39) |
I197V |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,525,506 (GRCm39) |
I76V |
probably benign |
Het |
Vmn1r32 |
A |
T |
6: 66,530,285 (GRCm39) |
S164T |
probably benign |
Het |
Zfp607a |
G |
T |
7: 27,577,884 (GRCm39) |
C318F |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGATTCTCTCAAGCCAGCTTCAC -3'
(R):5'- CAGCCGCTGCAAAACTTTCCTC -3'
Sequencing Primer
(F):5'- GCCAGCTTCACCCAGTC -3'
(R):5'- ATCTTGATGGCTCGAAGCCAC -3'
|
Posted On |
2014-05-23 |