Incidental Mutation 'IGL01671:Ephb1'
ID |
103499 |
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 # |
IGL01671
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
101799327-102231892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101873986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 563
(C563S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082261
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035129]
[ENSMUST00000085169]
|
AlphaFold |
Q8CBF3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035129
AA Change: C563S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035129 Gene: ENSMUSG00000032537 AA Change: C563S
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 |
probably damaging
Transcript: ENSMUST00000085169
AA Change: C563S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082261 Gene: ENSMUSG00000032537 AA Change: C563S
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 |
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdc7 |
C |
T |
5: 107,131,111 (GRCm39) |
P529S |
probably damaging |
Het |
Defb45 |
T |
C |
2: 152,435,331 (GRCm39) |
K26E |
probably benign |
Het |
Dnajb8 |
T |
C |
6: 88,199,902 (GRCm39) |
L146S |
probably benign |
Het |
Egln1 |
T |
C |
8: 125,637,454 (GRCm39) |
D399G |
probably benign |
Het |
Gad2 |
T |
A |
2: 22,513,711 (GRCm39) |
Y49* |
probably null |
Het |
Gga2 |
A |
G |
7: 121,594,079 (GRCm39) |
S470P |
probably benign |
Het |
Gm21276 |
G |
T |
7: 38,464,151 (GRCm39) |
|
noncoding transcript |
Het |
Gm3115 |
G |
A |
14: 4,084,189 (GRCm38) |
C9Y |
probably benign |
Het |
H2-M1 |
T |
C |
17: 36,981,330 (GRCm39) |
E235G |
probably damaging |
Het |
Hjv |
T |
C |
3: 96,435,807 (GRCm39) |
V355A |
probably damaging |
Het |
Hsp90b1 |
C |
T |
10: 86,540,189 (GRCm39) |
G41S |
probably benign |
Het |
Mccc1 |
T |
C |
3: 36,018,609 (GRCm39) |
D575G |
probably benign |
Het |
Metap2 |
T |
C |
10: 93,707,340 (GRCm39) |
|
probably benign |
Het |
Myh7 |
T |
C |
14: 55,210,381 (GRCm39) |
T1775A |
probably damaging |
Het |
Or2aj5 |
A |
G |
16: 19,424,671 (GRCm39) |
I249T |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,255 (GRCm39) |
F107L |
probably benign |
Het |
Or8g21 |
A |
G |
9: 38,906,149 (GRCm39) |
V194A |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,958,293 (GRCm39) |
D265G |
possibly damaging |
Het |
Pex1 |
A |
G |
5: 3,674,088 (GRCm39) |
I793V |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,485,609 (GRCm39) |
I479V |
possibly damaging |
Het |
Rhcg |
A |
C |
7: 79,248,299 (GRCm39) |
I435S |
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,380,678 (GRCm39) |
T535S |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,805,141 (GRCm39) |
D279G |
possibly damaging |
Het |
Wdr83 |
T |
C |
8: 85,802,448 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ephb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL02660:Ephb1
|
APN |
9 |
101,918,291 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
2014-01-21 |