Incidental Mutation 'IGL02660:Ephb1'
| ID |
302499 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ephb1
|
| Ensembl Gene |
ENSMUSG00000032537 |
| Gene Name |
Eph receptor B1 |
| Synonyms |
Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
101799327-102231892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101918291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 406
(I406N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035129]
[ENSMUST00000085169]
[ENSMUST00000149800]
|
| AlphaFold |
Q8CBF3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035129
AA Change: I406N
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: I406N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
EPH_lbd
|
19 |
196 |
1.69e-129 |
SMART |
|
FN3
|
323 |
416 |
2.44e-5 |
SMART |
|
FN3
|
434 |
515 |
2.26e-9 |
SMART |
|
Pfam:EphA2_TM
|
542 |
616 |
3e-24 |
PFAM |
|
TyrKc
|
619 |
878 |
6.45e-141 |
SMART |
|
SAM
|
908 |
975 |
1.22e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085169
AA Change: I406N
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
AA Change: I406N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
EPH_lbd
|
19 |
196 |
1.69e-129 |
SMART |
|
FN3
|
323 |
416 |
2.44e-5 |
SMART |
|
FN3
|
434 |
515 |
2.26e-9 |
SMART |
|
transmembrane domain
|
541 |
563 |
N/A |
INTRINSIC |
|
TyrKc
|
585 |
837 |
2.35e-134 |
SMART |
|
SAM
|
867 |
934 |
1.22e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149800
AA Change: I406N
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139470
Gene: ENSMUSG00000032537
AA Change: I406N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
EPH_lbd
|
19 |
196 |
1.69e-129 |
SMART |
|
FN3
|
323 |
416 |
2.44e-5 |
SMART |
|
| Coding Region Coverage |
|
| 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 is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene display marked reductions of the ipsilateral optic tract. Homozygotes for one null allele show reduced corticospinal tract and abnormal anterior commissure axon crossing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
A |
G |
15: 12,810,853 (GRCm39) |
L341P |
probably damaging |
Het |
| Abcd3 |
A |
C |
3: 121,577,669 (GRCm39) |
N206K |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,150,847 (GRCm39) |
D335G |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,823,816 (GRCm39) |
M150K |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,115,446 (GRCm39) |
D680G |
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,657,402 (GRCm39) |
V1804D |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,216,340 (GRCm39) |
V311A |
probably damaging |
Het |
| C2cd4c |
T |
A |
10: 79,449,136 (GRCm39) |
T4S |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,090,389 (GRCm39) |
Y456C |
probably damaging |
Het |
| Cbr1 |
A |
G |
16: 93,406,712 (GRCm39) |
S143G |
probably benign |
Het |
| Ccdc191 |
A |
G |
16: 43,780,462 (GRCm39) |
T815A |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,386,979 (GRCm39) |
Q1767L |
probably damaging |
Het |
| Col6a5 |
A |
C |
9: 105,814,085 (GRCm39) |
N642K |
unknown |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,127,868 (GRCm39) |
V370A |
possibly damaging |
Het |
| Gm14403 |
A |
T |
2: 177,201,257 (GRCm39) |
H401L |
probably damaging |
Het |
| Gp6 |
T |
G |
7: 4,387,997 (GRCm39) |
R157S |
probably benign |
Het |
| Gucy2e |
G |
A |
11: 69,122,833 (GRCm39) |
T514I |
probably benign |
Het |
| H2ac1 |
T |
C |
13: 24,118,608 (GRCm39) |
V55A |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,794,499 (GRCm39) |
I63T |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,349 (GRCm39) |
V169A |
probably damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,187,642 (GRCm39) |
T1193S |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,756,809 (GRCm39) |
|
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,264,920 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,435,787 (GRCm39) |
Y587H |
probably damaging |
Het |
| Scaf1 |
C |
A |
7: 44,661,542 (GRCm39) |
|
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,561,183 (GRCm39) |
F601Y |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,452 (GRCm39) |
I114T |
probably benign |
Het |
| Skint10 |
T |
A |
4: 112,622,227 (GRCm39) |
|
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,686,850 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,059,860 (GRCm39) |
L287P |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Trim5 |
C |
A |
7: 103,915,425 (GRCm39) |
R296L |
probably damaging |
Het |
| Vmn2r60 |
G |
T |
7: 41,791,720 (GRCm39) |
E548* |
probably null |
Het |
| Wdr26 |
A |
T |
1: 181,026,463 (GRCm39) |
W251R |
probably damaging |
Het |
|
| Other mutations in Ephb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01671:Ephb1
|
APN |
9 |
101,873,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01910:Ephb1
|
APN |
9 |
101,879,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02006:Ephb1
|
APN |
9 |
102,071,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02685:Ephb1
|
APN |
9 |
101,918,302 (GRCm39) |
nonsense |
probably null |
|
|
IGL02802:Ephb1
|
UTSW |
9 |
101,887,218 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0098:Ephb1
|
UTSW |
9 |
101,918,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0098:Ephb1
|
UTSW |
9 |
101,918,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0180:Ephb1
|
UTSW |
9 |
101,804,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0488:Ephb1
|
UTSW |
9 |
101,841,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Ephb1
|
UTSW |
9 |
101,873,179 (GRCm39) |
splice site |
probably benign |
|
|
R0601:Ephb1
|
UTSW |
9 |
102,072,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Ephb1
|
UTSW |
9 |
101,878,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1643:Ephb1
|
UTSW |
9 |
101,874,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1645:Ephb1
|
UTSW |
9 |
101,804,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Ephb1
|
UTSW |
9 |
101,806,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Ephb1
|
UTSW |
9 |
101,848,322 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2245:Ephb1
|
UTSW |
9 |
101,873,973 (GRCm39) |
splice site |
probably benign |
|
|
R2247:Ephb1
|
UTSW |
9 |
101,874,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2412:Ephb1
|
UTSW |
9 |
101,879,015 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3716:Ephb1
|
UTSW |
9 |
102,071,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3756:Ephb1
|
UTSW |
9 |
101,918,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3797:Ephb1
|
UTSW |
9 |
101,848,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Ephb1
|
UTSW |
9 |
101,878,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4981:Ephb1
|
UTSW |
9 |
101,918,159 (GRCm39) |
missense |
probably benign |
|
|
R5112:Ephb1
|
UTSW |
9 |
101,848,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5507:Ephb1
|
UTSW |
9 |
101,813,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5745:Ephb1
|
UTSW |
9 |
102,072,633 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6082:Ephb1
|
UTSW |
9 |
101,848,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Ephb1
|
UTSW |
9 |
102,072,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Ephb1
|
UTSW |
9 |
101,800,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Ephb1
|
UTSW |
9 |
101,944,097 (GRCm39) |
missense |
probably benign |
|
|
R6596:Ephb1
|
UTSW |
9 |
102,072,001 (GRCm39) |
nonsense |
probably null |
|
|
R6813:Ephb1
|
UTSW |
9 |
101,887,247 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6876:Ephb1
|
UTSW |
9 |
101,861,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6922:Ephb1
|
UTSW |
9 |
101,806,463 (GRCm39) |
splice site |
probably null |
|
|
R6950:Ephb1
|
UTSW |
9 |
102,072,108 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7144:Ephb1
|
UTSW |
9 |
101,841,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Ephb1
|
UTSW |
9 |
101,841,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7328:Ephb1
|
UTSW |
9 |
102,072,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Ephb1
|
UTSW |
9 |
101,813,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:Ephb1
|
UTSW |
9 |
101,861,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8109:Ephb1
|
UTSW |
9 |
101,918,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Ephb1
|
UTSW |
9 |
102,072,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Ephb1
|
UTSW |
9 |
101,841,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8958:Ephb1
|
UTSW |
9 |
102,072,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Ephb1
|
UTSW |
9 |
101,918,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9627:Ephb1
|
UTSW |
9 |
101,918,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9715:Ephb1
|
UTSW |
9 |
101,848,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ephb1
|
UTSW |
9 |
101,848,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ephb1
|
UTSW |
9 |
101,861,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ephb1
|
UTSW |
9 |
102,100,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation