Incidental Mutation 'R2412:Ephb1'
ID |
250039 |
Institutional Source |
Beutler Lab
|
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 # |
R2412 (G1)
|
Quality Score |
132 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
101799327-102231892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 101879015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 492
(R492C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082261
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035129]
[ENSMUST00000085169]
|
AlphaFold |
Q8CBF3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035129
AA Change: R492C
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000035129 Gene: ENSMUSG00000032537 AA Change: R492C
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: R492C
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000082261 Gene: ENSMUSG00000032537 AA Change: R492C
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
A |
T |
3: 36,127,740 (GRCm39) |
Q114L |
probably benign |
Het |
Adamts3 |
A |
G |
5: 89,849,630 (GRCm39) |
Y597H |
probably damaging |
Het |
Bmi1 |
A |
G |
2: 18,688,525 (GRCm39) |
H172R |
probably damaging |
Het |
Cyp3a44 |
A |
T |
5: 145,716,389 (GRCm39) |
Y400* |
probably null |
Het |
Dennd5b |
T |
C |
6: 148,906,736 (GRCm39) |
T1062A |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,144,246 (GRCm39) |
D1065G |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,011,221 (GRCm39) |
H2107L |
probably benign |
Het |
Itga8 |
A |
G |
2: 12,306,526 (GRCm39) |
V23A |
probably benign |
Het |
Lrba |
A |
G |
3: 86,235,007 (GRCm39) |
N851D |
probably damaging |
Het |
Ltbp3 |
A |
G |
19: 5,796,673 (GRCm39) |
T322A |
probably benign |
Het |
Ntpcr |
T |
C |
8: 126,472,144 (GRCm39) |
V151A |
probably damaging |
Het |
Or8h7 |
T |
C |
2: 86,721,178 (GRCm39) |
I114V |
probably benign |
Het |
Or9g3 |
C |
A |
2: 85,590,024 (GRCm39) |
G232V |
probably damaging |
Het |
Pramel51 |
A |
G |
12: 88,143,880 (GRCm39) |
V311A |
probably damaging |
Het |
Rps6ka4 |
A |
T |
19: 6,807,309 (GRCm39) |
*774K |
probably null |
Het |
Slc12a5 |
T |
C |
2: 164,818,382 (GRCm39) |
|
probably null |
Het |
Tmem219 |
T |
C |
7: 126,495,939 (GRCm39) |
S37G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tubb1 |
A |
G |
2: 174,298,903 (GRCm39) |
N195S |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,412,425 (GRCm39) |
|
probably null |
Het |
Zfp85 |
T |
C |
13: 67,897,765 (GRCm39) |
I102M |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCACCCGAAACACTCATTGC -3'
(R):5'- GGCCCAAATCTGGCTCTTCATC -3'
Sequencing Primer
(F):5'- CGAAACACTCATTGCCCACC -3'
(R):5'- GGCTGACCATCCTCATTCAGAG -3'
|
Posted On |
2014-11-12 |