Incidental Mutation 'R5838:Ephb3'
ID |
449761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb3
|
Ensembl Gene |
ENSMUSG00000005958 |
Gene Name |
Eph receptor B3 |
Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
MMRRC Submission |
044058-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.927)
|
Stock # |
R5838 (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 C
at 21040437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 558
(S558P)
|
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: S812P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000006112 Gene: ENSMUSG00000005958 AA Change: S812P
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: S558P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
G |
A |
11: 105,863,706 (GRCm39) |
V385I |
probably benign |
Het |
Apmap |
T |
C |
2: 150,427,777 (GRCm39) |
Y315C |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,916,904 (GRCm39) |
T414I |
probably damaging |
Het |
Cd200r1 |
C |
A |
16: 44,586,397 (GRCm39) |
A9D |
possibly damaging |
Het |
Cdkal1 |
T |
C |
13: 29,875,669 (GRCm39) |
D183G |
probably benign |
Het |
Clk1 |
C |
A |
1: 58,451,819 (GRCm39) |
C432F |
probably damaging |
Het |
Col27a1 |
G |
T |
4: 63,143,765 (GRCm39) |
L484F |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,807,211 (GRCm39) |
E2480G |
unknown |
Het |
Dnah5 |
A |
G |
15: 28,290,341 (GRCm39) |
I1244V |
probably benign |
Het |
Dock3 |
G |
T |
9: 106,772,687 (GRCm39) |
P522Q |
possibly damaging |
Het |
Drc1 |
T |
A |
5: 30,523,857 (GRCm39) |
|
probably null |
Het |
Epas1 |
C |
T |
17: 87,131,114 (GRCm39) |
T298I |
possibly damaging |
Het |
Epha1 |
A |
T |
6: 42,338,580 (GRCm39) |
I699N |
probably damaging |
Het |
Epn1 |
T |
A |
7: 5,100,165 (GRCm39) |
L426* |
probably null |
Het |
Fam234b |
T |
C |
6: 135,202,265 (GRCm39) |
V329A |
probably benign |
Het |
Fasn |
G |
T |
11: 120,706,950 (GRCm39) |
R901S |
probably damaging |
Het |
Fbln2 |
T |
C |
6: 91,248,830 (GRCm39) |
M1165T |
possibly damaging |
Het |
Fer1l4 |
T |
C |
2: 155,893,913 (GRCm39) |
R103G |
probably benign |
Het |
G6pd2 |
T |
A |
5: 61,966,568 (GRCm39) |
D114E |
probably benign |
Het |
Galnt10 |
A |
G |
11: 57,671,882 (GRCm39) |
K391E |
probably damaging |
Het |
Gpr150 |
C |
A |
13: 76,204,045 (GRCm39) |
C300F |
probably benign |
Het |
Hhipl2 |
A |
G |
1: 183,204,479 (GRCm39) |
T151A |
probably damaging |
Het |
Hmcn2 |
C |
A |
2: 31,347,819 (GRCm39) |
L4822M |
probably damaging |
Het |
Ifi207 |
T |
A |
1: 173,559,953 (GRCm39) |
Q173L |
unknown |
Het |
Inca1 |
T |
C |
11: 70,580,707 (GRCm39) |
E86G |
probably damaging |
Het |
Iqca1 |
A |
G |
1: 90,072,667 (GRCm39) |
L71P |
probably benign |
Het |
Kank2 |
G |
T |
9: 21,706,689 (GRCm39) |
Q110K |
probably damaging |
Het |
Katnip |
A |
T |
7: 125,466,827 (GRCm39) |
M1361L |
possibly damaging |
Het |
Kif13b |
A |
T |
14: 64,975,004 (GRCm39) |
M407L |
probably damaging |
Het |
Kif5a |
A |
C |
10: 127,081,310 (GRCm39) |
I208S |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,489,469 (GRCm39) |
K4490R |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,835,875 (GRCm39) |
R1352H |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,345,947 (GRCm39) |
Q2061R |
possibly damaging |
Het |
Marcks |
A |
G |
10: 37,012,163 (GRCm39) |
S291P |
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,039,231 (GRCm39) |
V254A |
possibly damaging |
Het |
Mdn1 |
C |
T |
4: 32,754,547 (GRCm39) |
R4683W |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,846,397 (GRCm39) |
|
probably null |
Het |
Ndrg4 |
A |
T |
8: 96,433,421 (GRCm39) |
H134L |
probably damaging |
Het |
Nek7 |
C |
A |
1: 138,462,101 (GRCm39) |
|
probably null |
Het |
Nlrc3 |
C |
T |
16: 3,771,859 (GRCm39) |
S151N |
probably damaging |
Het |
Nsl1 |
C |
A |
1: 190,802,310 (GRCm39) |
A146E |
probably benign |
Het |
Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
Or2y1e |
A |
C |
11: 49,218,760 (GRCm39) |
N174T |
probably damaging |
Het |
Or52ac1 |
A |
G |
7: 104,246,104 (GRCm39) |
Y95H |
probably benign |
Het |
Or5b120 |
T |
A |
19: 13,479,922 (GRCm39) |
Y72N |
probably damaging |
Het |
Or6c210 |
A |
T |
10: 129,495,907 (GRCm39) |
R77S |
probably benign |
Het |
Pde4d |
A |
C |
13: 109,876,976 (GRCm39) |
S41R |
probably damaging |
Het |
Phlpp1 |
T |
A |
1: 106,274,862 (GRCm39) |
L875* |
probably null |
Het |
Pkd1 |
T |
A |
17: 24,799,186 (GRCm39) |
S2802T |
possibly damaging |
Het |
Polr3b |
A |
G |
10: 84,510,454 (GRCm39) |
T500A |
probably benign |
Het |
Ppp2r2c |
T |
C |
5: 37,097,531 (GRCm39) |
V239A |
probably benign |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Reln |
T |
A |
5: 22,104,111 (GRCm39) |
I3287F |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,407,651 (GRCm39) |
D763G |
probably damaging |
Het |
Setd5 |
T |
C |
6: 113,096,396 (GRCm39) |
V534A |
probably benign |
Het |
Slc10a4 |
T |
A |
5: 73,169,373 (GRCm39) |
C333S |
probably benign |
Het |
Slc15a1 |
G |
A |
14: 121,722,283 (GRCm39) |
A206V |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,273,829 (GRCm39) |
L654P |
probably damaging |
Het |
Sowahc |
G |
A |
10: 59,059,012 (GRCm39) |
A383T |
possibly damaging |
Het |
Taf1b |
A |
G |
12: 24,550,448 (GRCm39) |
D11G |
possibly damaging |
Het |
Tap1 |
C |
T |
17: 34,412,279 (GRCm39) |
Q164* |
probably null |
Het |
Tbcel |
T |
A |
9: 42,327,168 (GRCm39) |
R430W |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,965,594 (GRCm39) |
|
probably null |
Het |
Trim15 |
T |
C |
17: 37,173,732 (GRCm39) |
I259V |
probably damaging |
Het |
Trpt1 |
T |
C |
19: 6,975,668 (GRCm39) |
S141P |
probably damaging |
Het |
Tsc2 |
T |
A |
17: 24,832,190 (GRCm39) |
Q732L |
probably benign |
Het |
Tstd3 |
C |
A |
4: 21,759,622 (GRCm39) |
|
probably null |
Het |
Unc13d |
T |
C |
11: 115,955,451 (GRCm39) |
K914R |
possibly damaging |
Het |
Unk |
A |
G |
11: 115,940,157 (GRCm39) |
E170G |
probably damaging |
Het |
Uqcc2 |
T |
A |
17: 27,344,860 (GRCm39) |
K62* |
probably null |
Het |
Vim |
A |
G |
2: 13,585,001 (GRCm39) |
D394G |
probably damaging |
Het |
Wdr47 |
G |
A |
3: 108,532,052 (GRCm39) |
|
probably null |
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 |
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 |
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'- TGGTACAGGAAGCCTCTGAG -3'
(R):5'- GGTAACCGATAGTCTTGCTCTAC -3'
Sequencing Primer
(F):5'- TACAGGAAGCCTCTGAGGGATTTG -3'
(R):5'- GCTCTACAGCATTAATGACCTGG -3'
|
Posted On |
2016-12-20 |