Incidental Mutation 'R5540:Ephb3'
ID |
435922 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb3
|
Ensembl Gene |
ENSMUSG00000005958 |
Gene Name |
Eph receptor B3 |
Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
MMRRC Submission |
043098-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.927)
|
Stock # |
R5540 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21039610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 454
(F454Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
|
AlphaFold |
P54754 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006112
AA Change: F708Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006112 Gene: ENSMUSG00000005958 AA Change: F708Y
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 damaging
Transcript: ENSMUST00000161063
AA Change: F454Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700008O03Rik |
A |
G |
7: 44,012,371 (GRCm39) |
S15P |
probably damaging |
Het |
Actl7a |
A |
T |
4: 56,744,388 (GRCm39) |
H305L |
probably benign |
Het |
Adam26b |
C |
A |
8: 43,974,654 (GRCm39) |
C116F |
probably damaging |
Het |
Adgrl2 |
A |
G |
3: 148,543,198 (GRCm39) |
|
probably null |
Het |
Akr1b10 |
A |
G |
6: 34,371,047 (GRCm39) |
T238A |
probably damaging |
Het |
Akr1c18 |
A |
G |
13: 4,187,178 (GRCm39) |
V186A |
probably benign |
Het |
Alpk3 |
G |
A |
7: 80,745,184 (GRCm39) |
V1311M |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,143,569 (GRCm39) |
N1229S |
probably benign |
Het |
Apobec3 |
T |
A |
15: 79,782,120 (GRCm39) |
N43K |
probably benign |
Het |
Arid1a |
A |
C |
4: 133,407,765 (GRCm39) |
D2247E |
unknown |
Het |
Asph |
A |
G |
4: 9,635,906 (GRCm39) |
L77S |
probably damaging |
Het |
Cd300ld |
T |
A |
11: 114,878,231 (GRCm39) |
T94S |
probably damaging |
Het |
Celf2 |
T |
C |
2: 6,558,743 (GRCm39) |
T382A |
probably benign |
Het |
Cfap54 |
C |
T |
10: 92,808,470 (GRCm39) |
A1402T |
possibly damaging |
Het |
Chrnb1 |
A |
T |
11: 69,686,476 (GRCm39) |
V48E |
probably benign |
Het |
Col6a5 |
T |
A |
9: 105,739,975 (GRCm39) |
E2548V |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,961,071 (GRCm39) |
D56G |
possibly damaging |
Het |
Dctn5 |
A |
G |
7: 121,734,275 (GRCm39) |
T40A |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,301,141 (GRCm39) |
N2323K |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,627,384 (GRCm39) |
Q4021R |
probably benign |
Het |
Dyrk1a |
T |
G |
16: 94,486,202 (GRCm39) |
|
probably null |
Het |
Fbxo38 |
A |
G |
18: 62,647,864 (GRCm39) |
|
probably null |
Het |
Flg |
T |
C |
3: 93,184,923 (GRCm39) |
F15S |
probably damaging |
Het |
Fndc3b |
G |
A |
3: 27,555,651 (GRCm39) |
P301L |
probably damaging |
Het |
Fpr-rs7 |
C |
T |
17: 20,334,356 (GRCm39) |
G45R |
probably damaging |
Het |
Garin3 |
A |
G |
11: 46,295,715 (GRCm39) |
N29S |
probably damaging |
Het |
Gfi1 |
T |
A |
5: 107,867,991 (GRCm39) |
T360S |
probably damaging |
Het |
Grik4 |
T |
C |
9: 42,432,243 (GRCm39) |
H918R |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,241,119 (GRCm39) |
S385P |
possibly damaging |
Het |
Kdm5b |
A |
G |
1: 134,558,979 (GRCm39) |
D1501G |
probably damaging |
Het |
Kif20b |
A |
T |
19: 34,915,860 (GRCm39) |
M546L |
probably benign |
Het |
Map3k9 |
G |
T |
12: 81,819,587 (GRCm39) |
N222K |
probably damaging |
Het |
Me1 |
A |
G |
9: 86,561,926 (GRCm39) |
L53P |
possibly damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,195,520 (GRCm39) |
E748G |
possibly damaging |
Het |
Morc3 |
T |
A |
16: 93,644,268 (GRCm39) |
N186K |
probably benign |
Het |
Mtor |
A |
G |
4: 148,539,165 (GRCm39) |
T221A |
probably benign |
Het |
Muc6 |
A |
G |
7: 141,235,850 (GRCm39) |
|
probably null |
Het |
Myh8 |
C |
A |
11: 67,177,266 (GRCm39) |
T444N |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,140,143 (GRCm39) |
Y216H |
probably damaging |
Het |
Myom1 |
G |
A |
17: 71,416,782 (GRCm39) |
V1382M |
probably damaging |
Het |
Nbeal2 |
A |
T |
9: 110,460,801 (GRCm39) |
Y1718N |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,164,546 (GRCm39) |
S1168P |
probably damaging |
Het |
Or4c58 |
A |
G |
2: 89,675,011 (GRCm39) |
F102S |
probably damaging |
Het |
Or4d2 |
T |
A |
11: 87,784,511 (GRCm39) |
K80* |
probably null |
Het |
Or51f5 |
C |
T |
7: 102,424,136 (GRCm39) |
A135V |
probably benign |
Het |
Or5an9 |
T |
A |
19: 12,187,824 (GRCm39) |
I298N |
probably damaging |
Het |
Or6c8b |
G |
T |
10: 128,882,364 (GRCm39) |
D189E |
probably damaging |
Het |
Pcdha4 |
C |
A |
18: 37,087,890 (GRCm39) |
A691E |
probably benign |
Het |
Pde6a |
T |
G |
18: 61,364,438 (GRCm39) |
F165V |
probably damaging |
Het |
Ptpn14 |
A |
T |
1: 189,578,561 (GRCm39) |
M340L |
probably benign |
Het |
Rnasel |
G |
T |
1: 153,630,890 (GRCm39) |
E469* |
probably null |
Het |
Rsph3a |
T |
G |
17: 8,164,790 (GRCm39) |
L50R |
probably benign |
Het |
Rusc2 |
A |
G |
4: 43,423,975 (GRCm39) |
Y1043C |
probably damaging |
Het |
Serpinb6b |
A |
T |
13: 33,161,541 (GRCm39) |
K86* |
probably null |
Het |
Serpine1 |
T |
C |
5: 137,092,063 (GRCm39) |
T392A |
probably benign |
Het |
Shcbp1 |
A |
T |
8: 4,794,529 (GRCm39) |
D421E |
probably damaging |
Het |
Slc24a1 |
A |
G |
9: 64,855,863 (GRCm39) |
V348A |
unknown |
Het |
Slc26a7 |
A |
G |
4: 14,506,621 (GRCm39) |
F605L |
probably benign |
Het |
Slc66a1 |
A |
T |
4: 139,027,655 (GRCm39) |
L229Q |
probably damaging |
Het |
Spag17 |
A |
C |
3: 99,963,588 (GRCm39) |
E1102A |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,683,989 (GRCm39) |
V2390A |
probably benign |
Het |
Stk11 |
A |
G |
10: 79,961,883 (GRCm39) |
I35V |
probably benign |
Het |
Stk24 |
T |
C |
14: 121,531,693 (GRCm39) |
D321G |
possibly damaging |
Het |
Tbx4 |
A |
T |
11: 85,801,994 (GRCm39) |
N209I |
possibly damaging |
Het |
Tmem225 |
T |
C |
9: 40,060,681 (GRCm39) |
L80P |
probably damaging |
Het |
Tnfrsf4 |
C |
T |
4: 156,098,380 (GRCm39) |
T17I |
probably benign |
Het |
Traf3ip1 |
G |
A |
1: 91,429,037 (GRCm39) |
R268Q |
probably benign |
Het |
Trhde |
T |
A |
10: 114,636,497 (GRCm39) |
I237F |
probably benign |
Het |
Ugt2a1 |
A |
T |
5: 87,633,915 (GRCm39) |
W231R |
probably damaging |
Het |
Vash1 |
ACTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGC |
12: 86,726,831 (GRCm39) |
|
probably benign |
Het |
Vps16 |
T |
A |
2: 130,284,305 (GRCm39) |
D685E |
probably benign |
Het |
Washc4 |
A |
G |
10: 83,409,657 (GRCm39) |
D602G |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,211,816 (GRCm39) |
L377P |
possibly damaging |
Het |
Wdr81 |
T |
C |
11: 75,339,896 (GRCm39) |
E1364G |
probably 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 |
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 |
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'- AGAGCAAGTGGTCCTGCAAG -3'
(R):5'- TTGTCTCCAACATCCCAGTGG -3'
Sequencing Primer
(F):5'- TCGACTGAAACTGCCCGG -3'
(R):5'- CCAGCCCTAGTTTATAACTGAGG -3'
|
Posted On |
2016-10-24 |