Incidental Mutation 'IGL00966:Ephb3'
ID |
306617 |
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 # |
IGL00966
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 21036044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 57
(T57P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
[ENSMUST00000231316]
[ENSMUST00000232407]
|
AlphaFold |
P54754 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006112
AA Change: T311P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000006112 Gene: ENSMUSG00000005958 AA Change: T311P
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: T57P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231316
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232407
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
A |
G |
9: 104,003,855 (GRCm39) |
E649G |
probably damaging |
Het |
Adgre1 |
C |
A |
17: 57,726,335 (GRCm39) |
T402K |
probably benign |
Het |
Agap3 |
A |
G |
5: 24,706,000 (GRCm39) |
|
probably benign |
Het |
Amy1 |
T |
C |
3: 113,349,689 (GRCm39) |
I494V |
probably benign |
Het |
Arhgef40 |
G |
A |
14: 52,229,155 (GRCm39) |
|
probably null |
Het |
Atp2c2 |
T |
C |
8: 120,472,329 (GRCm39) |
V461A |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,652,583 (GRCm39) |
S595P |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,844,836 (GRCm39) |
Y692* |
probably null |
Het |
Cmya5 |
C |
T |
13: 93,234,414 (GRCm39) |
V225I |
probably benign |
Het |
Cnbd1 |
T |
C |
4: 18,906,988 (GRCm39) |
|
probably benign |
Het |
Cux1 |
A |
T |
5: 136,340,345 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,656,664 (GRCm39) |
I178N |
probably benign |
Het |
Dus2 |
T |
A |
8: 106,752,533 (GRCm39) |
|
probably null |
Het |
Enpp1 |
G |
A |
10: 24,529,929 (GRCm39) |
H570Y |
probably damaging |
Het |
Fat3 |
C |
A |
9: 15,910,390 (GRCm39) |
V1871F |
possibly damaging |
Het |
Fbll1 |
T |
C |
11: 35,688,874 (GRCm39) |
T130A |
probably benign |
Het |
Fbxl20 |
C |
T |
11: 98,001,800 (GRCm39) |
S99N |
probably damaging |
Het |
Folr2 |
T |
C |
7: 101,489,593 (GRCm39) |
E182G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,703,080 (GRCm39) |
D281G |
probably benign |
Het |
Gm17175 |
G |
T |
14: 51,810,526 (GRCm39) |
Q34K |
possibly damaging |
Het |
Gm5592 |
T |
A |
7: 40,938,519 (GRCm39) |
D600E |
probably damaging |
Het |
Gtf2e1 |
T |
C |
16: 37,336,092 (GRCm39) |
E294G |
probably benign |
Het |
Gtf3c2 |
A |
G |
5: 31,327,517 (GRCm39) |
|
probably benign |
Het |
Heg1 |
T |
C |
16: 33,530,977 (GRCm39) |
L151P |
probably damaging |
Het |
Hmcn2 |
T |
G |
2: 31,319,006 (GRCm39) |
V3902G |
probably damaging |
Het |
Ift140 |
A |
G |
17: 25,237,776 (GRCm39) |
Y4C |
probably damaging |
Het |
Ighv1-19 |
A |
C |
12: 114,672,569 (GRCm39) |
V17G |
possibly damaging |
Het |
Iqca1 |
T |
A |
1: 89,973,379 (GRCm39) |
I770F |
probably benign |
Het |
Jak3 |
T |
A |
8: 72,131,656 (GRCm39) |
C115S |
probably benign |
Het |
Kif18b |
A |
T |
11: 102,805,501 (GRCm39) |
M252K |
probably damaging |
Het |
Klhdc7a |
A |
T |
4: 139,694,236 (GRCm39) |
V237D |
probably benign |
Het |
Klhl11 |
C |
T |
11: 100,354,031 (GRCm39) |
V597I |
possibly damaging |
Het |
Krt72 |
T |
A |
15: 101,689,396 (GRCm39) |
Y312F |
probably damaging |
Het |
Lonp2 |
T |
A |
8: 87,360,600 (GRCm39) |
I191N |
probably damaging |
Het |
Npc2 |
A |
T |
12: 84,819,619 (GRCm39) |
I8N |
possibly damaging |
Het |
Nr4a1 |
T |
C |
15: 101,170,669 (GRCm39) |
L413P |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,638,645 (GRCm39) |
N895S |
probably damaging |
Het |
Or7e175 |
T |
C |
9: 20,048,531 (GRCm39) |
F40L |
probably benign |
Het |
Ppef1 |
A |
G |
X: 159,468,290 (GRCm39) |
I94T |
probably benign |
Het |
Prrt4 |
G |
A |
6: 29,176,455 (GRCm39) |
T290I |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,499,927 (GRCm39) |
V1239E |
probably damaging |
Het |
Rab8b |
T |
G |
9: 66,760,274 (GRCm39) |
M117L |
probably benign |
Het |
S1pr5 |
T |
A |
9: 21,155,512 (GRCm39) |
I305F |
possibly damaging |
Het |
Sdr39u1 |
A |
G |
14: 56,135,463 (GRCm39) |
V160A |
probably damaging |
Het |
Slc6a21 |
C |
T |
7: 44,937,668 (GRCm39) |
T653M |
probably benign |
Het |
Stk39 |
T |
A |
2: 68,042,302 (GRCm39) |
E544D |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,290,367 (GRCm39) |
T313A |
probably benign |
Het |
Tle6 |
A |
T |
10: 81,430,292 (GRCm39) |
L287M |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,105,932 (GRCm39) |
H821R |
probably benign |
Het |
Tmem230 |
G |
T |
2: 132,087,897 (GRCm39) |
D26E |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,880,885 (GRCm39) |
F394S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,641,721 (GRCm39) |
L13458F |
probably damaging |
Het |
Vwa5a |
A |
T |
9: 38,634,675 (GRCm39) |
N161I |
probably benign |
Het |
Wdr87-ps |
C |
A |
7: 29,236,888 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL02166:Ephb3
|
APN |
16 |
21,039,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02245:Ephb3
|
APN |
16 |
21,040,174 (GRCm39) |
missense |
probably benign |
0.04 |
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 |