Incidental Mutation 'R1831:Ephb4'
| ID |
207318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb4
|
| Ensembl Gene |
ENSMUSG00000029710 |
| Gene Name |
Eph receptor B4 |
| Synonyms |
MDK2, Htk, b2b2412Clo, Myk1, Tyro11 |
| MMRRC Submission |
039858-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1831 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137348371-137372784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137352677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 87
(Y87N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061244]
[ENSMUST00000111054]
[ENSMUST00000111055]
[ENSMUST00000144296]
[ENSMUST00000166239]
|
| AlphaFold |
P54761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061244
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: Y87N
| 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 damaging
Transcript: ENSMUST00000111054
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: Y87N
| 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 damaging
Transcript: ENSMUST00000111055
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: Y87N
| 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 damaging
Transcript: ENSMUST00000144296
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: Y87N
| 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 damaging
Transcript: ENSMUST00000166239
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: Y87N
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.2%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,627,255 (GRCm39) |
D77G |
probably damaging |
Het |
| Adam1b |
A |
G |
5: 121,641,000 (GRCm39) |
I15T |
possibly damaging |
Het |
| Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
| Capn8 |
G |
A |
1: 182,438,666 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,348,862 (GRCm39) |
V15E |
probably benign |
Het |
| Ccdc42 |
T |
A |
11: 68,481,805 (GRCm39) |
M133K |
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,696,933 (GRCm39) |
D485G |
probably damaging |
Het |
| Cdhr18 |
A |
G |
14: 13,899,619 (GRCm38) |
I101T |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,087,003 (GRCm39) |
V842E |
probably benign |
Het |
| Cep162 |
T |
A |
9: 87,088,985 (GRCm39) |
I966L |
probably damaging |
Het |
| Cklf |
T |
C |
8: 104,977,687 (GRCm39) |
F13S |
probably damaging |
Het |
| Csf2rb |
C |
T |
15: 78,232,453 (GRCm39) |
P587S |
probably benign |
Het |
| Cyp21a1 |
A |
T |
17: 35,023,009 (GRCm39) |
|
probably benign |
Het |
| Cyp26a1 |
A |
T |
19: 37,689,071 (GRCm39) |
L335F |
probably damaging |
Het |
| Dcst1 |
A |
G |
3: 89,260,057 (GRCm39) |
F596L |
probably damaging |
Het |
| Dennd6a |
T |
A |
14: 26,328,109 (GRCm39) |
L44H |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,158,780 (GRCm39) |
R608C |
possibly damaging |
Het |
| Dnajb5 |
A |
T |
4: 42,957,333 (GRCm39) |
T311S |
probably benign |
Het |
| Dthd1 |
A |
G |
5: 62,984,572 (GRCm39) |
T426A |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,580,493 (GRCm39) |
K118R |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,871,442 (GRCm39) |
D347V |
possibly damaging |
Het |
| Ern1 |
A |
T |
11: 106,290,668 (GRCm39) |
|
probably null |
Het |
| Fam184a |
A |
T |
10: 53,523,180 (GRCm39) |
D164E |
probably damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,314,045 (GRCm39) |
E351G |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,939,074 (GRCm39) |
S3P |
possibly damaging |
Het |
| Gpr3 |
C |
T |
4: 132,938,454 (GRCm39) |
A73T |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,491,902 (GRCm39) |
T616A |
probably benign |
Het |
| Gtf3c2 |
G |
T |
5: 31,325,713 (GRCm39) |
Q452K |
probably damaging |
Het |
| H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
| Hacd2 |
T |
C |
16: 34,922,434 (GRCm39) |
Y208H |
probably damaging |
Het |
| Hid1 |
C |
T |
11: 115,239,729 (GRCm39) |
G734R |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,559,992 (GRCm39) |
I160T |
unknown |
Het |
| Itga11 |
T |
A |
9: 62,689,300 (GRCm39) |
L1155Q |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,753,224 (GRCm39) |
S157P |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,017,187 (GRCm39) |
T793A |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Ltn1 |
C |
T |
16: 87,197,034 (GRCm39) |
S1213N |
possibly damaging |
Het |
| Meak7 |
T |
C |
8: 120,497,992 (GRCm39) |
M171V |
probably null |
Het |
| Med1 |
T |
C |
11: 98,047,437 (GRCm39) |
|
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,355,134 (GRCm39) |
T1483M |
probably benign |
Het |
| Micall2 |
A |
G |
5: 139,702,508 (GRCm39) |
V245A |
probably benign |
Het |
| Mipep |
T |
G |
14: 61,109,512 (GRCm39) |
Y630D |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,395,127 (GRCm39) |
H501L |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,842,789 (GRCm38) |
M165L |
probably benign |
Het |
| Nmbr |
C |
A |
10: 14,642,609 (GRCm39) |
T56K |
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,237,452 (GRCm39) |
M268L |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,039,367 (GRCm39) |
Y185C |
probably benign |
Het |
| Ogdhl |
T |
A |
14: 32,059,484 (GRCm39) |
V377E |
probably damaging |
Het |
| Or11g1 |
T |
A |
14: 50,651,658 (GRCm39) |
|
probably null |
Het |
| Or14j4 |
G |
A |
17: 37,920,730 (GRCm39) |
S304L |
possibly damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,892,384 (GRCm39) |
R346G |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,678,958 (GRCm39) |
N337Y |
possibly damaging |
Het |
| Pask |
A |
C |
1: 93,248,491 (GRCm39) |
|
probably null |
Het |
| Pax3 |
G |
T |
1: 78,108,977 (GRCm39) |
T227K |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,434,860 (GRCm39) |
M594K |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,246,370 (GRCm39) |
F390L |
probably benign |
Het |
| Polg |
G |
A |
7: 79,109,518 (GRCm39) |
T433I |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,427,021 (GRCm39) |
Y898C |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,044 (GRCm39) |
C1921* |
probably null |
Het |
| Rif1 |
T |
A |
2: 51,968,507 (GRCm39) |
L230* |
probably null |
Het |
| Rnf148 |
A |
G |
6: 23,654,772 (GRCm39) |
F75L |
probably damaging |
Het |
| Rps18-ps6 |
A |
G |
13: 97,897,053 (GRCm39) |
V15A |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,156,425 (GRCm39) |
D735G |
probably benign |
Het |
| Spag5 |
T |
A |
11: 78,205,082 (GRCm39) |
N622K |
probably benign |
Het |
| Sspo |
T |
G |
6: 48,466,720 (GRCm39) |
C3935W |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,515,277 (GRCm39) |
S250P |
possibly damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,919,604 (GRCm39) |
T541A |
possibly damaging |
Het |
| Thada |
A |
C |
17: 84,538,542 (GRCm39) |
S1489A |
probably damaging |
Het |
| Tiam1 |
A |
T |
16: 89,657,182 (GRCm39) |
S685T |
probably benign |
Het |
| Tpsb2 |
T |
A |
17: 25,585,494 (GRCm39) |
|
probably null |
Het |
| Trip4 |
C |
A |
9: 65,765,622 (GRCm39) |
G359V |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,791,182 (GRCm39) |
F254L |
probably benign |
Het |
| Vmn1r120 |
T |
C |
7: 20,787,556 (GRCm39) |
K52E |
probably benign |
Het |
| Vmn1r29 |
C |
A |
6: 58,284,692 (GRCm39) |
Y137* |
probably null |
Het |
| Vmn2r52 |
T |
C |
7: 9,893,415 (GRCm39) |
K575E |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,475,891 (GRCm39) |
Y63C |
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 |
|
|
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'- ACTGAAGCAGGAGGTTGCAC -3'
(R):5'- CCCAGACTGTTGGTACCTTG -3'
Sequencing Primer
(F):5'- GAAACACTCCGAGATACTTGTTTCC -3'
(R):5'- CCCAGACTGTTGGTACCTTGATGTAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation