Incidental Mutation 'R4429:Ephb3'
ID |
328346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb3
|
Ensembl Gene |
ENSMUSG00000005958 |
Gene Name |
Eph receptor B3 |
Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
MMRRC Submission |
041699-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.927)
|
Stock # |
R4429 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 21033213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 66
(E66K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
[ENSMUST00000231316]
[ENSMUST00000232407]
|
AlphaFold |
P54754 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006112
AA Change: E100K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000006112 Gene: ENSMUSG00000005958 AA Change: E100K
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 |
probably benign
Transcript: ENSMUST00000161063
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231316
AA Change: E66K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232407
AA Change: E66K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Abca5 |
T |
C |
11: 110,202,236 (GRCm39) |
T390A |
probably benign |
Het |
Ahcyl2 |
T |
G |
6: 29,894,874 (GRCm39) |
V452G |
probably damaging |
Het |
Ano4 |
T |
A |
10: 88,828,804 (GRCm39) |
N545I |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Catip |
T |
A |
1: 74,407,891 (GRCm39) |
|
probably benign |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cnpy3 |
T |
A |
17: 47,058,070 (GRCm39) |
Q111L |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,971,120 (GRCm39) |
N2725D |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Gm6594 |
T |
A |
17: 82,846,923 (GRCm39) |
D79E |
probably benign |
Het |
Gtf2e2 |
T |
A |
8: 34,242,521 (GRCm39) |
Y74* |
probably null |
Het |
Hacd4 |
A |
T |
4: 88,353,184 (GRCm39) |
F103I |
possibly damaging |
Het |
Hap1 |
T |
C |
11: 100,245,098 (GRCm39) |
T38A |
probably benign |
Het |
Havcr2 |
T |
A |
11: 46,347,387 (GRCm39) |
D72E |
probably damaging |
Het |
Iqcg |
G |
A |
16: 32,839,860 (GRCm39) |
T362I |
probably benign |
Het |
Lect2 |
C |
T |
13: 56,693,538 (GRCm39) |
|
probably null |
Het |
Lemd3 |
T |
C |
10: 120,813,893 (GRCm39) |
T447A |
probably benign |
Het |
Lrrc72 |
T |
C |
12: 36,258,623 (GRCm39) |
N78S |
probably damaging |
Het |
Map3k14 |
A |
G |
11: 103,118,410 (GRCm39) |
L592P |
probably damaging |
Het |
Meioc |
T |
C |
11: 102,566,546 (GRCm39) |
Y721H |
probably damaging |
Het |
Mrps10 |
T |
A |
17: 47,689,124 (GRCm39) |
|
probably null |
Het |
Myo5c |
A |
G |
9: 75,201,283 (GRCm39) |
Y1406C |
probably damaging |
Het |
Myo7a |
T |
C |
7: 97,702,395 (GRCm39) |
Y2098C |
probably damaging |
Het |
Nol9 |
C |
T |
4: 152,125,631 (GRCm39) |
T194I |
probably damaging |
Het |
Nox3 |
G |
A |
17: 3,733,233 (GRCm39) |
T206I |
probably benign |
Het |
Nsd2 |
T |
G |
5: 34,000,546 (GRCm39) |
M21R |
probably damaging |
Het |
Pcdh9 |
T |
C |
14: 94,124,820 (GRCm39) |
N327S |
probably damaging |
Het |
Pclo |
T |
G |
5: 14,728,114 (GRCm39) |
|
probably benign |
Het |
Pparg |
T |
A |
6: 115,416,984 (GRCm39) |
M59K |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,613,796 (GRCm39) |
K1116R |
probably damaging |
Het |
Rhbdf1 |
C |
T |
11: 32,163,369 (GRCm39) |
E368K |
probably benign |
Het |
Rita1 |
A |
G |
5: 120,747,626 (GRCm39) |
V224A |
probably damaging |
Het |
Rsph6a |
T |
A |
7: 18,807,988 (GRCm39) |
W384R |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,181,329 (GRCm39) |
Y65N |
possibly damaging |
Het |
Serpina5 |
C |
A |
12: 104,069,665 (GRCm39) |
F292L |
probably benign |
Het |
Sf3b3 |
A |
C |
8: 111,552,750 (GRCm39) |
L511V |
probably benign |
Het |
Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
Slco6d1 |
T |
C |
1: 98,424,091 (GRCm39) |
V581A |
possibly damaging |
Het |
Sptbn2 |
T |
C |
19: 4,788,383 (GRCm39) |
Y1121H |
probably damaging |
Het |
Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
Timm29 |
G |
C |
9: 21,504,775 (GRCm39) |
A148P |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Uba6 |
C |
T |
5: 86,268,406 (GRCm39) |
V941I |
probably damaging |
Het |
Vmn1r174 |
T |
C |
7: 23,453,565 (GRCm39) |
V77A |
probably benign |
Het |
Zfp661 |
A |
G |
2: 127,420,628 (GRCm39) |
V57A |
probably damaging |
Het |
Zfp867 |
C |
T |
11: 59,355,863 (GRCm39) |
D64N |
possibly damaging |
Het |
Zp3r |
T |
C |
1: 130,519,128 (GRCm39) |
T294A |
possibly damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCAGAAAGTGTGCATGCG -3'
(R):5'- AAGCTCTCATCTGGCGCAATG -3'
Sequencing Primer
(F):5'- CTGTGAAGTAAATAGAGCAGCTCCTC -3'
(R):5'- CAATGGTGTCCACTTTCACGTAGG -3'
|
Posted On |
2015-07-07 |