Incidental Mutation 'IGL02245:Ephb3'
ID |
286135 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ephb3
|
Ensembl Gene |
ENSMUSG00000005958 |
Gene Name |
Eph receptor B3 |
Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.927)
|
Stock # |
IGL02245
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21040174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 512
(V512A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
|
AlphaFold |
P54754 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006112
AA Change: V766A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000006112 Gene: ENSMUSG00000005958 AA Change: V766A
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
EPH_lbd
|
31 |
204 |
6.47e-126 |
SMART |
Pfam:GCC2_GCC3
|
269 |
312 |
5.8e-9 |
PFAM |
FN3
|
332 |
430 |
8.43e-9 |
SMART |
FN3
|
448 |
527 |
2.72e-12 |
SMART |
Pfam:EphA2_TM
|
555 |
625 |
1e-24 |
PFAM |
TyrKc
|
628 |
887 |
1.35e-134 |
SMART |
SAM
|
917 |
984 |
3.88e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160053
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161063
AA Change: V512A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
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 two 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. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010] PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in corpus callosum formation and impaired Paneth cell downward migration in the intestinal epithelium, resulting in scattered positioning along crypt and villus. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,381,772 (GRCm39) |
I1398V |
probably benign |
Het |
Abca5 |
G |
A |
11: 110,188,995 (GRCm39) |
Q821* |
probably null |
Het |
Bcl9 |
A |
T |
3: 97,116,009 (GRCm39) |
L895Q |
probably damaging |
Het |
Cpne7 |
A |
G |
8: 123,844,357 (GRCm39) |
D41G |
probably damaging |
Het |
Daxx |
A |
G |
17: 34,131,351 (GRCm39) |
|
probably benign |
Het |
Dbx2 |
A |
G |
15: 95,522,628 (GRCm39) |
Y360H |
probably damaging |
Het |
Dpy19l2 |
T |
C |
9: 24,607,321 (GRCm39) |
T47A |
probably benign |
Het |
Exoc2 |
T |
C |
13: 31,090,842 (GRCm39) |
D254G |
probably benign |
Het |
Gtpbp1 |
G |
T |
15: 79,575,127 (GRCm39) |
R7L |
probably benign |
Het |
Gucy2c |
A |
T |
6: 136,706,201 (GRCm39) |
I500N |
probably benign |
Het |
H2ac6 |
A |
T |
13: 23,867,783 (GRCm39) |
Y40N |
probably damaging |
Het |
H2ac6 |
G |
T |
13: 23,867,784 (GRCm39) |
N39K |
possibly damaging |
Het |
Hormad2 |
T |
C |
11: 4,358,580 (GRCm39) |
|
probably benign |
Het |
Impg2 |
A |
G |
16: 56,089,445 (GRCm39) |
Q1130R |
probably damaging |
Het |
Itga4 |
T |
A |
2: 79,150,903 (GRCm39) |
D836E |
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,427,797 (GRCm39) |
T456S |
possibly damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Map1b |
T |
C |
13: 99,568,036 (GRCm39) |
T1562A |
unknown |
Het |
Mre11a |
C |
T |
9: 14,726,572 (GRCm39) |
|
probably benign |
Het |
Myh1 |
A |
C |
11: 67,102,313 (GRCm39) |
E868A |
possibly damaging |
Het |
Nlrp4e |
T |
G |
7: 23,020,300 (GRCm39) |
S262R |
probably damaging |
Het |
Nlrp9a |
C |
T |
7: 26,257,318 (GRCm39) |
T223I |
probably benign |
Het |
Nosip |
A |
G |
7: 44,723,466 (GRCm39) |
D44G |
probably benign |
Het |
Nr6a1 |
C |
T |
2: 38,630,565 (GRCm39) |
M217I |
probably benign |
Het |
Numa1 |
A |
G |
7: 101,649,601 (GRCm39) |
T1111A |
probably benign |
Het |
Or6c6c |
T |
A |
10: 129,541,608 (GRCm39) |
I287N |
probably damaging |
Het |
Pms1 |
A |
G |
1: 53,246,519 (GRCm39) |
L340P |
probably damaging |
Het |
Prmt7 |
T |
C |
8: 106,963,937 (GRCm39) |
V277A |
probably benign |
Het |
Pxmp4 |
T |
C |
2: 154,429,870 (GRCm39) |
Y173C |
probably damaging |
Het |
Rbm11 |
G |
T |
16: 75,389,896 (GRCm39) |
V21L |
possibly damaging |
Het |
Rims1 |
A |
G |
1: 22,416,712 (GRCm39) |
S1123P |
probably damaging |
Het |
Rnf220 |
C |
T |
4: 117,156,734 (GRCm39) |
|
probably benign |
Het |
Rnf41 |
T |
G |
10: 128,273,196 (GRCm39) |
*123G |
probably null |
Het |
Samhd1 |
C |
T |
2: 156,952,475 (GRCm39) |
D426N |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,501,218 (GRCm39) |
W189R |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,055,150 (GRCm39) |
F265L |
probably damaging |
Het |
Spag16 |
A |
G |
1: 69,897,661 (GRCm39) |
D137G |
probably benign |
Het |
Srsf12 |
G |
A |
4: 33,209,103 (GRCm39) |
|
probably benign |
Het |
Suclg2 |
A |
G |
6: 95,572,722 (GRCm39) |
I81T |
possibly damaging |
Het |
Tmc1 |
C |
T |
19: 20,776,556 (GRCm39) |
R601H |
probably damaging |
Het |
Trim33 |
T |
C |
3: 103,254,086 (GRCm39) |
|
probably null |
Het |
Vit |
A |
G |
17: 78,932,480 (GRCm39) |
D529G |
probably damaging |
Het |
Wbp1l |
C |
T |
19: 46,643,057 (GRCm39) |
H353Y |
possibly damaging |
Het |
Wdr70 |
A |
T |
15: 8,075,965 (GRCm39) |
V170D |
possibly damaging |
Het |
Ythdc2 |
T |
A |
18: 44,995,751 (GRCm39) |
I947N |
possibly damaging |
Het |
Zfp280b |
T |
C |
10: 75,875,197 (GRCm39) |
S359P |
probably benign |
Het |
Zfp936 |
T |
C |
7: 42,836,722 (GRCm39) |
|
probably null |
Het |
Zscan4d |
T |
A |
7: 10,896,716 (GRCm39) |
Y218F |
probably benign |
Het |
|
Other mutations in Ephb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00476:Ephb3
|
APN |
16 |
21,039,165 (GRCm39) |
splice site |
probably null |
|
IGL00966:Ephb3
|
APN |
16 |
21,036,044 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02166:Ephb3
|
APN |
16 |
21,039,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02321:Ephb3
|
APN |
16 |
21,033,139 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02337:Ephb3
|
APN |
16 |
21,040,253 (GRCm39) |
splice site |
probably null |
|
IGL02507:Ephb3
|
APN |
16 |
21,039,389 (GRCm39) |
splice site |
probably benign |
|
IGL02755:Ephb3
|
APN |
16 |
21,040,448 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02806:Ephb3
|
APN |
16 |
21,041,031 (GRCm39) |
missense |
probably benign |
0.02 |
PIT4362001:Ephb3
|
UTSW |
16 |
21,039,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R0026:Ephb3
|
UTSW |
16 |
21,033,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Ephb3
|
UTSW |
16 |
21,036,859 (GRCm39) |
missense |
probably benign |
0.01 |
R0196:Ephb3
|
UTSW |
16 |
21,036,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R0230:Ephb3
|
UTSW |
16 |
21,039,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R0828:Ephb3
|
UTSW |
16 |
21,037,784 (GRCm39) |
unclassified |
probably benign |
|
R1126:Ephb3
|
UTSW |
16 |
21,041,226 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1460:Ephb3
|
UTSW |
16 |
21,037,672 (GRCm39) |
missense |
probably benign |
|
R1592:Ephb3
|
UTSW |
16 |
21,040,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R1632:Ephb3
|
UTSW |
16 |
21,031,687 (GRCm39) |
missense |
probably benign |
0.00 |
R1694:Ephb3
|
UTSW |
16 |
21,040,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R1719:Ephb3
|
UTSW |
16 |
21,039,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1777:Ephb3
|
UTSW |
16 |
21,035,985 (GRCm39) |
missense |
probably damaging |
0.99 |
R1928:Ephb3
|
UTSW |
16 |
21,041,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1956:Ephb3
|
UTSW |
16 |
21,040,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R2378:Ephb3
|
UTSW |
16 |
21,036,993 (GRCm39) |
missense |
probably benign |
|
R3408:Ephb3
|
UTSW |
16 |
21,038,254 (GRCm39) |
missense |
probably damaging |
0.99 |
R4027:Ephb3
|
UTSW |
16 |
21,040,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R4429:Ephb3
|
UTSW |
16 |
21,033,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R4655:Ephb3
|
UTSW |
16 |
21,040,958 (GRCm39) |
missense |
probably damaging |
0.98 |
R4826:Ephb3
|
UTSW |
16 |
21,033,745 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4828:Ephb3
|
UTSW |
16 |
21,033,745 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4960:Ephb3
|
UTSW |
16 |
21,039,245 (GRCm39) |
missense |
probably benign |
0.09 |
R5057:Ephb3
|
UTSW |
16 |
21,039,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R5090:Ephb3
|
UTSW |
16 |
21,033,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R5396:Ephb3
|
UTSW |
16 |
21,037,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5540:Ephb3
|
UTSW |
16 |
21,039,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R5628:Ephb3
|
UTSW |
16 |
21,036,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R5666:Ephb3
|
UTSW |
16 |
21,041,241 (GRCm39) |
missense |
probably benign |
0.08 |
R5838:Ephb3
|
UTSW |
16 |
21,040,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R5866:Ephb3
|
UTSW |
16 |
21,030,129 (GRCm39) |
intron |
probably benign |
|
R6017:Ephb3
|
UTSW |
16 |
21,040,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R6020:Ephb3
|
UTSW |
16 |
21,040,763 (GRCm39) |
missense |
probably damaging |
0.99 |
R6510:Ephb3
|
UTSW |
16 |
21,036,861 (GRCm39) |
missense |
probably damaging |
0.98 |
R6539:Ephb3
|
UTSW |
16 |
21,040,218 (GRCm39) |
missense |
probably benign |
|
R6591:Ephb3
|
UTSW |
16 |
21,033,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R6691:Ephb3
|
UTSW |
16 |
21,033,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R7101:Ephb3
|
UTSW |
16 |
21,037,268 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7111:Ephb3
|
UTSW |
16 |
21,037,577 (GRCm39) |
nonsense |
probably null |
|
R7236:Ephb3
|
UTSW |
16 |
21,033,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R7307:Ephb3
|
UTSW |
16 |
21,040,976 (GRCm39) |
missense |
probably benign |
0.04 |
R7410:Ephb3
|
UTSW |
16 |
21,040,158 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7413:Ephb3
|
UTSW |
16 |
21,033,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R7452:Ephb3
|
UTSW |
16 |
21,036,107 (GRCm39) |
splice site |
probably null |
|
R7944:Ephb3
|
UTSW |
16 |
21,040,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R7945:Ephb3
|
UTSW |
16 |
21,040,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R9092:Ephb3
|
UTSW |
16 |
21,041,214 (GRCm39) |
missense |
probably benign |
0.01 |
R9504:Ephb3
|
UTSW |
16 |
21,036,830 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9706:Ephb3
|
UTSW |
16 |
21,039,193 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ephb3
|
UTSW |
16 |
21,036,786 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Posted On |
2015-04-16 |