Incidental Mutation 'R9659:Ephb4'
ID |
727442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb4
|
Ensembl Gene |
ENSMUSG00000029710 |
Gene Name |
Eph receptor B4 |
Synonyms |
MDK2, Htk, b2b2412Clo, Myk1, Tyro11 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9659 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137348371-137372784 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 137363743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 583
(Y583D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061244]
[ENSMUST00000111054]
[ENSMUST00000111055]
[ENSMUST00000144296]
[ENSMUST00000166239]
|
AlphaFold |
P54761 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061244
AA Change: Y574D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000051622 Gene: ENSMUSG00000029710 AA Change: Y574D
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: Y574D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106683 Gene: ENSMUSG00000029710 AA Change: Y574D
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: Y583D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106684 Gene: ENSMUSG00000029710 AA Change: Y583D
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: Y574D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000115731 Gene: ENSMUSG00000029710 AA Change: Y574D
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: Y574D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130275 Gene: ENSMUSG00000029710 AA Change: Y574D
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330070K13Rik |
T |
C |
5: 130,407,876 (GRCm39) |
I112V |
unknown |
Het |
Adcy7 |
A |
G |
8: 89,045,733 (GRCm39) |
T572A |
probably benign |
Het |
Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
C2cd2 |
A |
G |
16: 97,723,473 (GRCm39) |
S15P |
possibly damaging |
Het |
Cabp1 |
T |
C |
5: 115,311,187 (GRCm39) |
D289G |
possibly damaging |
Het |
Ccdc14 |
A |
G |
16: 34,541,913 (GRCm39) |
I545V |
probably damaging |
Het |
Cep295 |
C |
A |
9: 15,233,846 (GRCm39) |
A2317S |
probably benign |
Het |
Cerkl |
T |
C |
2: 79,223,322 (GRCm39) |
D133G |
possibly damaging |
Het |
Cited4 |
T |
G |
4: 120,524,543 (GRCm39) |
C182G |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,811,034 (GRCm39) |
K828N |
unknown |
Het |
Ear2 |
A |
G |
14: 44,340,705 (GRCm39) |
Y121C |
probably damaging |
Het |
Ect2l |
C |
T |
10: 18,041,347 (GRCm39) |
C369Y |
possibly damaging |
Het |
Elapor1 |
G |
A |
3: 108,377,297 (GRCm39) |
T387I |
possibly damaging |
Het |
Ep300 |
A |
G |
15: 81,505,273 (GRCm39) |
Y631C |
unknown |
Het |
Fbn2 |
C |
G |
18: 58,342,654 (GRCm39) |
R75P |
probably damaging |
Het |
Gabra2 |
T |
C |
5: 71,192,140 (GRCm39) |
D63G |
probably benign |
Het |
Gfra1 |
A |
G |
19: 58,441,652 (GRCm39) |
M93T |
probably damaging |
Het |
Gm21886 |
AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG |
AGAGGCCTG |
18: 80,132,776 (GRCm39) |
|
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,519,724 (GRCm39) |
H10Q |
possibly damaging |
Het |
Helz2 |
T |
C |
2: 180,882,025 (GRCm39) |
D256G |
probably benign |
Het |
Herc1 |
A |
C |
9: 66,307,185 (GRCm39) |
I1002L |
probably benign |
Het |
Hpgd |
C |
G |
8: 56,772,075 (GRCm39) |
C182W |
probably damaging |
Het |
Htr5b |
A |
G |
1: 121,455,428 (GRCm39) |
L164P |
possibly damaging |
Het |
Kmo |
T |
C |
1: 175,486,085 (GRCm39) |
F403L |
probably damaging |
Het |
Ly75 |
C |
A |
2: 60,168,665 (GRCm39) |
D748Y |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Mipep |
A |
G |
14: 61,083,893 (GRCm39) |
T595A |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,232,100 (GRCm39) |
D968G |
probably damaging |
Het |
Myo18b |
T |
C |
5: 113,022,382 (GRCm39) |
T337A |
unknown |
Het |
Nlrp1b |
T |
A |
11: 71,073,132 (GRCm39) |
Q237L |
possibly damaging |
Het |
Nr1h4 |
A |
G |
10: 89,314,638 (GRCm39) |
|
probably null |
Het |
Nxph1 |
A |
G |
6: 9,247,418 (GRCm39) |
T130A |
probably damaging |
Het |
Or10al6 |
T |
G |
17: 38,082,880 (GRCm39) |
F112C |
probably damaging |
Het |
Or1l4 |
T |
A |
2: 37,091,897 (GRCm39) |
C215S |
possibly damaging |
Het |
Or4m1 |
A |
G |
14: 50,558,181 (GRCm39) |
F37S |
probably benign |
Het |
Or5p4 |
T |
C |
7: 107,680,745 (GRCm39) |
V248A |
probably damaging |
Het |
Or8g21 |
A |
G |
9: 38,906,296 (GRCm39) |
V145A |
possibly damaging |
Het |
Pcsk5 |
A |
G |
19: 17,455,245 (GRCm39) |
Y1062H |
probably benign |
Het |
Plch1 |
T |
C |
3: 63,681,136 (GRCm39) |
I164V |
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,854,892 (GRCm39) |
M42K |
possibly damaging |
Het |
Polr2a |
T |
C |
11: 69,625,654 (GRCm39) |
Y1832C |
unknown |
Het |
Prpf4 |
G |
A |
4: 62,334,296 (GRCm39) |
|
probably null |
Het |
Psg16 |
T |
C |
7: 16,824,524 (GRCm39) |
S12P |
possibly damaging |
Het |
Ptpn14 |
T |
A |
1: 189,587,174 (GRCm39) |
M528K |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,318,673 (GRCm39) |
H697Q |
probably benign |
Het |
Reg3a |
T |
G |
6: 78,360,574 (GRCm39) |
C171G |
possibly damaging |
Het |
Slc22a26 |
G |
A |
19: 7,763,798 (GRCm39) |
P412S |
probably benign |
Het |
Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
Tcstv2a |
T |
A |
13: 120,725,754 (GRCm39) |
D139E |
probably damaging |
Het |
Tlk2 |
T |
C |
11: 105,131,263 (GRCm39) |
I203T |
probably benign |
Het |
Tmem120b |
T |
G |
5: 123,253,788 (GRCm39) |
H279Q |
probably damaging |
Het |
Trip4 |
T |
C |
9: 65,740,702 (GRCm39) |
E535G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Ubr5 |
A |
T |
15: 37,984,254 (GRCm39) |
L2298I |
|
Het |
Utp20 |
A |
G |
10: 88,653,171 (GRCm39) |
L303P |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,839,860 (GRCm39) |
Y1895H |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,041,942 (GRCm39) |
N258D |
possibly damaging |
Het |
Wdr20rt |
A |
T |
12: 65,273,343 (GRCm39) |
S269C |
probably damaging |
Het |
Zfand4 |
T |
G |
6: 116,282,588 (GRCm39) |
Y54D |
probably damaging |
Het |
Zfp82 |
C |
T |
7: 29,755,963 (GRCm39) |
R373H |
probably damaging |
Het |
Zmiz2 |
A |
G |
11: 6,346,814 (GRCm39) |
E141G |
probably benign |
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 |
|
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 |
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'- TAAAGACTGGCCACCTGCTC -3'
(R):5'- TGCCTCATTAGGGTCTTCGTAAG -3'
Sequencing Primer
(F):5'- TGGTATCAACCTGCCGAATG -3'
(R):5'- TAGGGTCTTCGTAAGTAAAAGGATC -3'
|
Posted On |
2022-10-06 |