Incidental Mutation 'R9788:Ephb4'
| ID |
734439 |
| 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 # |
R9788 (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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,192,253 (GRCm39) |
M753K |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,045,733 (GRCm39) |
T572A |
probably benign |
Het |
| Bmp8b |
A |
G |
4: 122,999,369 (GRCm39) |
M76V |
probably damaging |
Het |
| C2cd2 |
A |
G |
16: 97,723,473 (GRCm39) |
S15P |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,036,499 (GRCm39) |
I702V |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cntln |
G |
A |
4: 84,968,093 (GRCm39) |
V771M |
probably damaging |
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 |
| Gabra2 |
T |
C |
5: 71,192,140 (GRCm39) |
D63G |
probably benign |
Het |
| Gfra1 |
A |
G |
19: 58,441,652 (GRCm39) |
M93T |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,519,724 (GRCm39) |
H10Q |
possibly damaging |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,307,185 (GRCm39) |
I1002L |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,528,333 (GRCm39) |
I3272V |
probably benign |
Het |
| Izumo3 |
A |
G |
4: 92,035,037 (GRCm39) |
I60T |
probably benign |
Het |
| Jakmip2 |
T |
A |
18: 43,704,927 (GRCm39) |
N358I |
probably damaging |
Het |
| Klra9 |
T |
A |
6: 130,159,385 (GRCm39) |
K209N |
possibly damaging |
Het |
| Ldah |
A |
T |
12: 8,333,946 (GRCm39) |
Y279F |
possibly damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,602,286 (GRCm39) |
H126Q |
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 |
| Mms22l |
A |
G |
4: 24,586,204 (GRCm39) |
T859A |
probably benign |
Het |
| Mogat1 |
A |
G |
1: 78,499,342 (GRCm39) |
M39V |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,232,100 (GRCm39) |
D968G |
probably damaging |
Het |
| Nab1 |
T |
C |
1: 52,529,166 (GRCm39) |
K244E |
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 |
| Obscn |
A |
G |
11: 58,969,678 (GRCm39) |
V2426A |
possibly damaging |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or11l3 |
T |
A |
11: 58,516,692 (GRCm39) |
Y60F |
probably benign |
Het |
| Or1e31 |
T |
C |
11: 73,689,768 (GRCm39) |
T272A |
probably benign |
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 |
| Osbpl3 |
A |
G |
6: 50,324,344 (GRCm39) |
|
probably null |
Het |
| Otop3 |
T |
A |
11: 115,235,087 (GRCm39) |
C259S |
unknown |
Het |
| Pcsk5 |
A |
G |
19: 17,455,245 (GRCm39) |
Y1062H |
probably benign |
Het |
| Phf21a |
T |
C |
2: 92,181,978 (GRCm39) |
|
probably null |
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 |
| Plekhm3 |
T |
C |
1: 64,961,422 (GRCm39) |
D278G |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,019,911 (GRCm39) |
Y447C |
probably damaging |
Het |
| Psg16 |
T |
C |
7: 16,824,524 (GRCm39) |
S12P |
possibly damaging |
Het |
| Ptprq |
A |
T |
10: 107,401,751 (GRCm39) |
C1914S |
probably benign |
Het |
| Rai1 |
A |
G |
11: 60,078,080 (GRCm39) |
T715A |
possibly damaging |
Het |
| Rsad2 |
G |
A |
12: 26,500,577 (GRCm39) |
H237Y |
probably benign |
Het |
| Sarm1 |
A |
G |
11: 78,378,863 (GRCm39) |
L394P |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,535,901 (GRCm39) |
S258P |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a26 |
G |
A |
19: 7,763,798 (GRCm39) |
P412S |
probably benign |
Het |
| Son |
TATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA |
TATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA |
16: 91,453,699 (GRCm39) |
|
probably benign |
Het |
| Synrg |
A |
T |
11: 83,877,781 (GRCm39) |
H342L |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,788,596 (GRCm39) |
Y478C |
probably benign |
Het |
| Tlr9 |
C |
T |
9: 106,101,006 (GRCm39) |
P99L |
probably damaging |
Het |
| Trip4 |
T |
C |
9: 65,740,702 (GRCm39) |
E535G |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,653,171 (GRCm39) |
L303P |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,041,942 (GRCm39) |
N258D |
possibly damaging |
Het |
| Zfp616 |
G |
A |
11: 73,975,276 (GRCm39) |
G515D |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,797,816 (GRCm39) |
L374P |
probably benign |
Het |
| Zfp82 |
C |
T |
7: 29,755,963 (GRCm39) |
R373H |
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 |
|
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 |
|
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'- CATCGTAGAGCAAGCCTTCC -3'
(R):5'- TCTTGACATAGGAGACATCGATCTC -3'
Sequencing Primer
(F):5'- GTAGAGCAAGCCTTCCTGTCTTTC -3'
(R):5'- CATAGGAGACATCGATCTCTTTGGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation