Incidental Mutation 'R5475:Ephb4'
ID |
434012 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb4
|
Ensembl Gene |
ENSMUSG00000029710 |
Gene Name |
Eph receptor B4 |
Synonyms |
MDK2, Htk, b2b2412Clo, Myk1, Tyro11 |
MMRRC Submission |
043036-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5475 (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 137352701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 95
(M95V)
|
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
AA Change: M95V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000051622 Gene: ENSMUSG00000029710 AA Change: M95V
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
AA Change: M95V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106683 Gene: ENSMUSG00000029710 AA Change: M95V
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
AA Change: M95V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106684 Gene: ENSMUSG00000029710 AA Change: M95V
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
AA Change: M95V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115731 Gene: ENSMUSG00000029710 AA Change: M95V
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
AA Change: M95V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130275 Gene: ENSMUSG00000029710 AA Change: M95V
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 |
0.0898 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
Validation Efficiency |
96% (72/75) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
AA467197 |
A |
G |
2: 122,482,646 (GRCm39) |
K70R |
probably damaging |
Het |
Agr3 |
A |
G |
12: 35,997,539 (GRCm39) |
N83S |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,440,083 (GRCm39) |
T904A |
probably benign |
Het |
Ank |
A |
T |
15: 27,557,285 (GRCm39) |
K156N |
probably damaging |
Het |
Arsb |
T |
G |
13: 93,998,773 (GRCm39) |
D360E |
probably benign |
Het |
Atg14 |
C |
T |
14: 47,805,793 (GRCm39) |
R24Q |
possibly damaging |
Het |
Cacna1e |
A |
T |
1: 154,601,455 (GRCm39) |
F71I |
possibly damaging |
Het |
Cdc42bpg |
T |
C |
19: 6,361,101 (GRCm39) |
I242T |
probably damaging |
Het |
Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,651,537 (GRCm39) |
H1158R |
probably null |
Het |
Cse1l |
T |
C |
2: 166,783,174 (GRCm39) |
S684P |
probably damaging |
Het |
Cyp2c29 |
A |
T |
19: 39,318,731 (GRCm39) |
M404L |
possibly damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Dph7 |
A |
T |
2: 24,858,969 (GRCm39) |
|
probably null |
Het |
Dsg1c |
A |
T |
18: 20,415,088 (GRCm39) |
N662Y |
probably damaging |
Het |
Efcab9 |
T |
G |
11: 32,472,862 (GRCm39) |
D195A |
probably damaging |
Het |
Fam171a1 |
A |
T |
2: 3,226,334 (GRCm39) |
Y489F |
possibly damaging |
Het |
Fars2 |
T |
C |
13: 36,388,553 (GRCm39) |
I14T |
probably benign |
Het |
Fbxo34 |
T |
C |
14: 47,766,802 (GRCm39) |
V54A |
probably benign |
Het |
Fbxw17 |
T |
C |
13: 50,579,684 (GRCm39) |
I167T |
probably benign |
Het |
Fzd9 |
A |
T |
5: 135,279,123 (GRCm39) |
|
probably null |
Het |
Gm26996 |
T |
A |
6: 130,556,918 (GRCm39) |
|
noncoding transcript |
Het |
Gm4744 |
A |
G |
6: 40,927,388 (GRCm39) |
|
probably benign |
Het |
Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Has1 |
C |
A |
17: 18,068,583 (GRCm39) |
R257L |
possibly damaging |
Het |
Hjv |
T |
C |
3: 96,434,599 (GRCm39) |
S113P |
probably benign |
Het |
Hsd17b8 |
C |
T |
17: 34,246,287 (GRCm39) |
|
probably benign |
Het |
Kat2b |
T |
G |
17: 53,970,609 (GRCm39) |
V665G |
probably damaging |
Het |
Klhdc4 |
T |
A |
8: 122,526,311 (GRCm39) |
H276L |
possibly damaging |
Het |
Klhl6 |
A |
T |
16: 19,766,877 (GRCm39) |
C506S |
probably damaging |
Het |
Ldb2 |
T |
C |
5: 44,699,174 (GRCm39) |
Y88C |
probably damaging |
Het |
Lrit1 |
A |
G |
14: 36,776,958 (GRCm39) |
E26G |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,889,541 (GRCm39) |
Y414C |
probably damaging |
Het |
Mfsd5 |
A |
G |
15: 102,188,928 (GRCm39) |
D100G |
probably damaging |
Het |
Micall2 |
T |
A |
5: 139,702,224 (GRCm39) |
S340C |
probably damaging |
Het |
Npsr1 |
T |
C |
9: 24,211,715 (GRCm39) |
I81T |
probably damaging |
Het |
Or2bd2 |
G |
T |
7: 6,443,169 (GRCm39) |
R90L |
probably benign |
Het |
Or2t49 |
A |
G |
11: 58,392,431 (GRCm39) |
V317A |
probably benign |
Het |
Or6x1 |
T |
A |
9: 40,099,005 (GRCm39) |
L198H |
possibly damaging |
Het |
Or8b56 |
T |
A |
9: 38,739,762 (GRCm39) |
F258L |
possibly damaging |
Het |
Pax3 |
T |
C |
1: 78,080,055 (GRCm39) |
T444A |
probably benign |
Het |
Pea15a |
A |
G |
1: 172,026,809 (GRCm39) |
|
probably null |
Het |
Phc1 |
T |
A |
6: 122,311,051 (GRCm39) |
Q95L |
possibly damaging |
Het |
Plch2 |
T |
C |
4: 155,084,594 (GRCm39) |
Y361C |
probably damaging |
Het |
Pphln1-ps1 |
A |
T |
16: 13,494,977 (GRCm39) |
R25S |
possibly damaging |
Het |
Rad54l2 |
C |
T |
9: 106,583,057 (GRCm39) |
G787D |
probably damaging |
Het |
Rbm20 |
G |
T |
19: 53,823,136 (GRCm39) |
E578* |
probably null |
Het |
Sipa1l2 |
A |
T |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Thumpd1 |
A |
G |
7: 119,319,943 (GRCm39) |
S8P |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,908,567 (GRCm39) |
Y1407H |
probably damaging |
Het |
Trav2 |
T |
A |
14: 52,805,290 (GRCm39) |
V37E |
probably damaging |
Het |
Trav3-1 |
G |
T |
14: 52,818,494 (GRCm39) |
W56L |
probably damaging |
Het |
Usp31 |
A |
T |
7: 121,250,749 (GRCm39) |
L808Q |
probably damaging |
Het |
Vmn1r52 |
C |
T |
6: 90,155,894 (GRCm39) |
A66V |
probably benign |
Het |
Vmn2r105 |
T |
A |
17: 20,455,044 (GRCm39) |
I31L |
probably benign |
Het |
Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
Zbtb2 |
G |
T |
10: 4,319,275 (GRCm39) |
F250L |
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 |
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'- GTTGCACAGAAACACTCCGAG -3'
(R):5'- ACTGCTTGTAGTGGCATCG -3'
Sequencing Primer
(F):5'- TAGCTAGACGTCCTGACTGACAG -3'
(R):5'- GATCCCCCAGACTGTTGGTAC -3'
|
Posted On |
2016-10-06 |