Incidental Mutation 'R5662:Ephb4'
ID |
444126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb4
|
Ensembl Gene |
ENSMUSG00000029710 |
Gene Name |
Eph receptor B4 |
Synonyms |
MDK2, Htk, b2b2412Clo, Myk1, Tyro11 |
MMRRC Submission |
043305-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5662 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137348371-137372784 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 137370457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 886
(I886F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061244]
[ENSMUST00000111054]
[ENSMUST00000111055]
[ENSMUST00000144296]
[ENSMUST00000166239]
|
AlphaFold |
P54761 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061244
AA Change: I886F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000051622 Gene: ENSMUSG00000029710 AA Change: I886F
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: I886F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106683 Gene: ENSMUSG00000029710 AA Change: I886F
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: I895F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106684 Gene: ENSMUSG00000029710 AA Change: I895F
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: I886F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115731 Gene: ENSMUSG00000029710 AA Change: I886F
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: I886F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130275 Gene: ENSMUSG00000029710 AA Change: I886F
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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
A |
7: 78,749,855 (GRCm39) |
V1542D |
possibly damaging |
Het |
Acsm4 |
T |
G |
7: 119,294,023 (GRCm39) |
N131K |
possibly damaging |
Het |
Ankrd54 |
A |
G |
15: 78,946,814 (GRCm39) |
S62P |
possibly damaging |
Het |
Ccdc186 |
A |
G |
19: 56,781,920 (GRCm39) |
I753T |
probably benign |
Het |
Cers2 |
C |
T |
3: 95,228,295 (GRCm39) |
R112C |
probably damaging |
Het |
Col6a4 |
C |
G |
9: 105,945,200 (GRCm39) |
R971S |
probably damaging |
Het |
Ctsf |
T |
C |
19: 4,906,606 (GRCm39) |
S178P |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,713,525 (GRCm39) |
T492I |
probably benign |
Het |
Dhx8 |
A |
G |
11: 101,657,584 (GRCm39) |
K1212E |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 30,956,307 (GRCm39) |
T2096A |
probably damaging |
Het |
Eprs1 |
T |
G |
1: 185,126,622 (GRCm39) |
N519K |
possibly damaging |
Het |
Fam3c |
T |
C |
6: 22,355,061 (GRCm39) |
|
probably benign |
Het |
Galnt17 |
G |
A |
5: 131,114,844 (GRCm39) |
R219C |
probably damaging |
Het |
Gm10645 |
A |
G |
8: 83,892,486 (GRCm39) |
|
probably benign |
Het |
Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
Hydin |
T |
G |
8: 111,307,341 (GRCm39) |
S3907A |
probably benign |
Het |
Ighv1-49 |
A |
T |
12: 115,019,027 (GRCm39) |
V56E |
probably damaging |
Het |
Igtp |
A |
G |
11: 58,097,105 (GRCm39) |
D92G |
probably damaging |
Het |
Itga1 |
C |
T |
13: 115,122,707 (GRCm39) |
V750I |
probably benign |
Het |
Katnip |
A |
G |
7: 125,441,875 (GRCm39) |
R595G |
probably benign |
Het |
Kif3c |
T |
A |
12: 3,417,031 (GRCm39) |
Y351N |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,329,939 (GRCm39) |
I356N |
probably benign |
Het |
Lrrc34 |
T |
C |
3: 30,685,473 (GRCm39) |
Y292C |
probably benign |
Het |
Ly75 |
G |
A |
2: 60,182,725 (GRCm39) |
T526M |
probably damaging |
Het |
Mroh4 |
A |
T |
15: 74,497,277 (GRCm39) |
D181E |
possibly damaging |
Het |
Nutm1 |
T |
C |
2: 112,079,645 (GRCm39) |
N757D |
probably benign |
Het |
Or1e25 |
T |
C |
11: 73,494,005 (GRCm39) |
F200L |
probably benign |
Het |
Or1m1 |
A |
G |
9: 18,666,896 (GRCm39) |
F12L |
probably damaging |
Het |
Or6c215 |
T |
C |
10: 129,638,176 (GRCm39) |
T73A |
possibly damaging |
Het |
Or9s18 |
T |
C |
13: 65,300,067 (GRCm39) |
F10L |
possibly damaging |
Het |
Paxbp1 |
G |
A |
16: 90,834,285 (GRCm39) |
T167M |
probably benign |
Het |
Pnpla7 |
A |
G |
2: 24,942,396 (GRCm39) |
D1238G |
probably damaging |
Het |
Pom121l2 |
T |
C |
13: 22,166,358 (GRCm39) |
S210P |
probably benign |
Het |
Ripor3 |
T |
G |
2: 167,835,476 (GRCm39) |
N165T |
probably benign |
Het |
Serpine3 |
T |
G |
14: 62,908,291 (GRCm39) |
S106R |
probably benign |
Het |
Slc25a11 |
G |
A |
11: 70,536,245 (GRCm39) |
R158* |
probably null |
Het |
Slc26a6 |
G |
A |
9: 108,736,538 (GRCm39) |
V506M |
possibly damaging |
Het |
Slc45a2 |
A |
G |
15: 11,022,169 (GRCm39) |
K304E |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
Smarcb1 |
T |
C |
10: 75,740,404 (GRCm39) |
N267S |
possibly damaging |
Het |
Spink6 |
C |
A |
18: 44,207,481 (GRCm39) |
Q24K |
possibly damaging |
Het |
Srebf2 |
T |
C |
15: 82,079,204 (GRCm39) |
S811P |
probably benign |
Het |
Ssc4d |
A |
G |
5: 135,989,748 (GRCm39) |
*587R |
probably null |
Het |
Sult2a8 |
C |
T |
7: 14,161,765 (GRCm39) |
R27H |
probably benign |
Het |
Sun2 |
C |
T |
15: 79,623,069 (GRCm39) |
A90T |
probably benign |
Het |
Ubr7 |
T |
C |
12: 102,734,526 (GRCm39) |
S267P |
probably benign |
Het |
Wdr55 |
G |
A |
18: 36,893,448 (GRCm39) |
V37M |
possibly damaging |
Het |
Xdh |
C |
T |
17: 74,248,110 (GRCm39) |
G45S |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,920,111 (GRCm39) |
S570T |
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 |
|
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 |
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'- CTGTAGGTGATCAATGCCATTG -3'
(R):5'- AATAGTGAGGCTGCCGTTGG -3'
Sequencing Primer
(F):5'- CATTGAACAGGACTACCGGCTG -3'
(R):5'- CTGCCGTTGGTCCAAGAGTG -3'
|
Posted On |
2016-11-09 |