Incidental Mutation 'R1643:Ephb1'
| ID |
173679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb1
|
| Ensembl Gene |
ENSMUSG00000032537 |
| Gene Name |
Eph receptor B1 |
| Synonyms |
Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk |
| MMRRC Submission |
039679-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1643 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
101799327-102231892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101874024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 550
(V550A)
|
| 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: V550A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: V550A
| 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: V550A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
AA Change: V550A
| 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 |
|
| Meta Mutation Damage Score |
0.1357 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.5%
|
| Validation Efficiency |
99% (74/75) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
T |
A |
16: 3,724,942 (GRCm39) |
K45* |
probably null |
Het |
| Abcc1 |
T |
A |
16: 14,231,232 (GRCm39) |
Y457N |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,017,009 (GRCm39) |
D19G |
probably damaging |
Het |
| Adam39 |
T |
C |
8: 41,279,523 (GRCm39) |
V638A |
possibly damaging |
Het |
| Adamts1 |
G |
T |
16: 85,593,705 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,778,791 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,720,632 (GRCm39) |
S565N |
probably benign |
Het |
| Casd1 |
A |
G |
6: 4,621,243 (GRCm39) |
E267G |
probably benign |
Het |
| Casr |
T |
C |
16: 36,320,567 (GRCm39) |
K527R |
probably damaging |
Het |
| Cep128 |
A |
C |
12: 91,292,306 (GRCm39) |
S248A |
probably damaging |
Het |
| Clic4 |
A |
G |
4: 134,966,206 (GRCm39) |
V50A |
possibly damaging |
Het |
| Cylc2 |
C |
T |
4: 51,225,173 (GRCm39) |
A36V |
probably benign |
Het |
| Derl1 |
T |
A |
15: 57,741,955 (GRCm39) |
M127L |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,021,735 (GRCm39) |
V3529A |
possibly damaging |
Het |
| Dock1 |
G |
T |
7: 134,700,508 (GRCm39) |
L1089F |
probably damaging |
Het |
| Edil3 |
T |
A |
13: 89,437,695 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,589,804 (GRCm39) |
T134S |
probably benign |
Het |
| Fcho2 |
G |
A |
13: 98,921,324 (GRCm39) |
T187I |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,515,902 (GRCm39) |
|
probably null |
Het |
| Gdf7 |
T |
C |
12: 8,347,971 (GRCm39) |
Y442C |
probably damaging |
Het |
| Gm11567 |
G |
A |
11: 99,770,623 (GRCm39) |
G187E |
unknown |
Het |
| Gm8674 |
T |
C |
13: 50,055,394 (GRCm39) |
|
noncoding transcript |
Het |
| Ift80 |
T |
A |
3: 68,823,490 (GRCm39) |
I591F |
probably benign |
Het |
| Kcnn3 |
C |
T |
3: 89,427,804 (GRCm39) |
S10L |
unknown |
Het |
| Keg1 |
A |
G |
19: 12,696,406 (GRCm39) |
I197V |
probably benign |
Het |
| Klhdc9 |
A |
G |
1: 171,187,034 (GRCm39) |
|
probably null |
Het |
| Klhl11 |
A |
G |
11: 100,353,841 (GRCm39) |
V660A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,133,818 (GRCm39) |
|
probably benign |
Het |
| Lrrc73 |
G |
T |
17: 46,566,266 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,050,685 (GRCm39) |
S689L |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,910,504 (GRCm39) |
|
probably benign |
Het |
| Meis1 |
A |
G |
11: 18,966,278 (GRCm39) |
S32P |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,226,631 (GRCm39) |
|
probably null |
Het |
| Mlph |
T |
C |
1: 90,869,456 (GRCm39) |
L486P |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,682,836 (GRCm39) |
E1090G |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,696,005 (GRCm39) |
S247P |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,331,712 (GRCm39) |
Y636C |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,416,916 (GRCm39) |
Y40N |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
| Nisch |
T |
C |
14: 30,895,125 (GRCm39) |
D1057G |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,791,041 (GRCm39) |
H475R |
probably benign |
Het |
| Pde6c |
C |
A |
19: 38,150,406 (GRCm39) |
T517K |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,215,986 (GRCm39) |
I994V |
probably benign |
Het |
| Pik3r4 |
A |
G |
9: 105,564,351 (GRCm39) |
D1315G |
possibly damaging |
Het |
| Pip5k1c |
T |
G |
10: 81,150,828 (GRCm39) |
V46G |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,465,711 (GRCm39) |
E1213G |
probably damaging |
Het |
| Prl7d1 |
T |
C |
13: 27,896,114 (GRCm39) |
S88G |
possibly damaging |
Het |
| Prodh |
T |
A |
16: 17,898,933 (GRCm39) |
N72I |
probably benign |
Het |
| Prrc2a |
G |
A |
17: 35,375,930 (GRCm39) |
R907C |
probably damaging |
Het |
| Ptger2 |
T |
A |
14: 45,226,423 (GRCm39) |
M1K |
probably null |
Het |
| Samd4b |
G |
C |
7: 28,123,041 (GRCm39) |
Q6E |
probably damaging |
Het |
| Sec24a |
C |
T |
11: 51,595,212 (GRCm39) |
R916H |
probably benign |
Het |
| Slc12a5 |
C |
A |
2: 164,835,947 (GRCm39) |
D865E |
probably benign |
Het |
| Slc17a3 |
T |
C |
13: 24,041,181 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
C |
2: 84,871,529 (GRCm39) |
V317A |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,035,307 (GRCm39) |
D95G |
possibly damaging |
Het |
| Taok2 |
A |
T |
7: 126,475,110 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
G |
18: 60,949,300 (GRCm39) |
K1205T |
possibly damaging |
Het |
| Trim43c |
C |
T |
9: 88,729,530 (GRCm39) |
R325C |
probably damaging |
Het |
| Trub2 |
T |
G |
2: 29,667,948 (GRCm39) |
T231P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uty |
T |
A |
Y: 1,152,054 (GRCm39) |
D724V |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,170 (GRCm39) |
D724G |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,023,781 (GRCm39) |
I2442T |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,795,542 (GRCm39) |
|
probably null |
Het |
| Zfp280b |
A |
G |
10: 75,875,444 (GRCm39) |
H441R |
probably damaging |
Het |
| Zfp60 |
A |
T |
7: 27,436,400 (GRCm39) |
Q7L |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,717,028 (GRCm39) |
L406S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTGCCCAGTTCCCATAACCAG -3'
(R):5'- ACTGTTCCCCACTCTGAAGCATTG -3'
Sequencing Primer
(F):5'- CAGTTCCCATAACCAGGTTTTATC -3'
(R):5'- CACTCTGAAGCATTGGAAGCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation