Incidental Mutation 'R5745:Ephb1'
ID |
445757 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb1
|
Ensembl Gene |
ENSMUSG00000032537 |
Gene Name |
Eph receptor B1 |
Synonyms |
Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk |
MMRRC Submission |
043198-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5745 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
101799327-102231892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 102072633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 49
(D49N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082261
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035129]
[ENSMUST00000085169]
[ENSMUST00000149800]
|
AlphaFold |
Q8CBF3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035129
AA Change: D49N
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000035129 Gene: ENSMUSG00000032537 AA Change: D49N
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 benign
Transcript: ENSMUST00000085169
AA Change: D49N
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000082261 Gene: ENSMUSG00000032537 AA Change: D49N
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 |
probably benign
Transcript: ENSMUST00000149800
AA Change: D49N
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000139470 Gene: ENSMUSG00000032537 AA Change: D49N
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082I17Rik |
G |
A |
5: 139,349,828 (GRCm39) |
R74W |
probably damaging |
Het |
4933407L21Rik |
T |
G |
1: 85,858,995 (GRCm39) |
|
probably null |
Het |
Adcy8 |
A |
T |
15: 64,792,320 (GRCm39) |
I212N |
possibly damaging |
Het |
Cobll1 |
T |
C |
2: 64,928,801 (GRCm39) |
T879A |
probably damaging |
Het |
Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
Dgcr8 |
A |
T |
16: 18,098,307 (GRCm39) |
N361K |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
Dock8 |
T |
A |
19: 25,107,761 (GRCm39) |
N830K |
probably benign |
Het |
Fer1l6 |
A |
G |
15: 58,443,238 (GRCm39) |
I514V |
probably benign |
Het |
Fpr1 |
A |
G |
17: 18,097,344 (GRCm39) |
I215T |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,491,565 (GRCm39) |
V3668M |
possibly damaging |
Het |
Ighv3-4 |
T |
A |
12: 114,217,388 (GRCm39) |
I68L |
probably benign |
Het |
Intu |
A |
G |
3: 40,647,402 (GRCm39) |
|
probably null |
Het |
Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,393,889 (GRCm39) |
S2781A |
possibly damaging |
Het |
Myom2 |
T |
A |
8: 15,172,705 (GRCm39) |
S1211T |
probably benign |
Het |
Nrp1 |
A |
T |
8: 129,194,929 (GRCm39) |
I462F |
probably benign |
Het |
Or10d3 |
T |
C |
9: 39,461,987 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6c5c |
T |
A |
10: 129,299,307 (GRCm39) |
I254N |
probably damaging |
Het |
Pcsk1 |
A |
C |
13: 75,280,079 (GRCm39) |
S635R |
probably benign |
Het |
Pms1 |
A |
T |
1: 53,246,861 (GRCm39) |
Y280* |
probably null |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
Sema3b |
C |
A |
9: 107,478,628 (GRCm39) |
A356S |
probably damaging |
Het |
Shoc2 |
C |
A |
19: 54,018,323 (GRCm39) |
T485K |
probably benign |
Het |
Slc7a7 |
G |
A |
14: 54,615,292 (GRCm39) |
S235L |
possibly damaging |
Het |
Smcr8 |
A |
T |
11: 60,674,977 (GRCm39) |
T918S |
probably benign |
Het |
Tafa1 |
G |
A |
6: 96,626,146 (GRCm39) |
R128Q |
probably damaging |
Het |
Tle3 |
C |
A |
9: 61,322,133 (GRCm39) |
F719L |
probably damaging |
Het |
Vmn2r45 |
T |
A |
7: 8,486,074 (GRCm39) |
I405L |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,097,895 (GRCm39) |
H57Q |
possibly 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTGGGACATTTGGAAG -3'
(R):5'- TGGTGCACGGTTGAGAACTG -3'
Sequencing Primer
(F):5'- ACATTTGGAAGGCTGCTGCAG -3'
(R):5'- TGCAGACATGGTTATACGAGCTC -3'
|
Posted On |
2016-11-21 |