Incidental Mutation 'R0230:Ephb3'
ID |
34083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb3
|
Ensembl Gene |
ENSMUSG00000005958 |
Gene Name |
Eph receptor B3 |
Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
MMRRC Submission |
038473-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.927)
|
Stock # |
R0230 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21039525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 426
(I426F)
|
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: I680F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006112 Gene: ENSMUSG00000005958 AA Change: I680F
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: I426F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6145 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.7%
|
Validation Efficiency |
100% (83/83) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amy1 |
T |
C |
3: 113,352,079 (GRCm39) |
D371G |
probably benign |
Het |
Asrgl1 |
T |
A |
19: 9,095,883 (GRCm39) |
|
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,585,383 (GRCm39) |
|
probably benign |
Het |
B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
Bbof1 |
A |
G |
12: 84,471,978 (GRCm39) |
H74R |
probably damaging |
Het |
Bpifb9b |
C |
T |
2: 154,158,995 (GRCm39) |
T504M |
probably damaging |
Het |
Cdk12 |
T |
G |
11: 98,094,817 (GRCm39) |
S208R |
probably damaging |
Het |
Cdk5r1 |
T |
C |
11: 80,368,576 (GRCm39) |
L81P |
probably damaging |
Het |
Chrd |
T |
C |
16: 20,552,025 (GRCm39) |
L43P |
probably benign |
Het |
Col6a4 |
A |
C |
9: 105,949,565 (GRCm39) |
M690R |
probably benign |
Het |
Cyp39a1 |
A |
T |
17: 44,042,903 (GRCm39) |
R418W |
probably damaging |
Het |
Dars2 |
C |
T |
1: 160,890,357 (GRCm39) |
V162M |
probably benign |
Het |
Dixdc1 |
C |
T |
9: 50,606,807 (GRCm39) |
V270M |
possibly damaging |
Het |
Dnah11 |
C |
A |
12: 117,946,791 (GRCm39) |
E1194* |
probably null |
Het |
Dnah7b |
T |
C |
1: 46,258,508 (GRCm39) |
S1900P |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,746,141 (GRCm39) |
E3991K |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,381,681 (GRCm39) |
I2210F |
probably benign |
Het |
Ebf1 |
A |
G |
11: 44,886,949 (GRCm39) |
S556G |
probably damaging |
Het |
Enam |
G |
A |
5: 88,637,514 (GRCm39) |
|
probably benign |
Het |
Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
Epc1 |
T |
C |
18: 6,440,168 (GRCm39) |
D579G |
probably damaging |
Het |
Fam135b |
T |
G |
15: 71,317,886 (GRCm39) |
I1359L |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,856,250 (GRCm39) |
H2012Q |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,128 (GRCm39) |
S26P |
probably benign |
Het |
Gm17622 |
T |
A |
13: 96,627,594 (GRCm39) |
|
probably null |
Het |
Gpat2 |
G |
A |
2: 127,277,765 (GRCm39) |
V764I |
possibly damaging |
Het |
Gpx4 |
G |
A |
10: 79,890,838 (GRCm39) |
A81T |
probably benign |
Het |
Gss |
C |
A |
2: 155,420,326 (GRCm39) |
R83L |
probably damaging |
Het |
Hcls1 |
C |
A |
16: 36,758,216 (GRCm39) |
Q36K |
probably damaging |
Het |
Hepacam2 |
A |
G |
6: 3,463,336 (GRCm39) |
V438A |
probably benign |
Het |
Hnf4a |
T |
C |
2: 163,401,005 (GRCm39) |
F184S |
probably damaging |
Het |
Katnal1 |
T |
A |
5: 148,855,460 (GRCm39) |
D90V |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,174,083 (GRCm39) |
D30G |
probably benign |
Het |
Kyat1 |
T |
C |
2: 30,084,087 (GRCm39) |
E11G |
probably benign |
Het |
Lefty1 |
T |
A |
1: 180,764,579 (GRCm39) |
V168E |
probably damaging |
Het |
Map2k6 |
C |
T |
11: 110,387,281 (GRCm39) |
P218S |
probably damaging |
Het |
Mlkl |
C |
G |
8: 112,041,694 (GRCm39) |
K415N |
probably benign |
Het |
Myh7 |
A |
T |
14: 55,211,390 (GRCm39) |
M1593K |
probably benign |
Het |
Myo19 |
T |
A |
11: 84,784,159 (GRCm39) |
C186S |
possibly damaging |
Het |
Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
Nkiras1 |
A |
G |
14: 18,280,185 (GRCm38) |
N192S |
probably benign |
Het |
Or1j17 |
G |
A |
2: 36,578,628 (GRCm39) |
V205M |
probably benign |
Het |
Or2n1 |
A |
G |
17: 38,486,841 (GRCm39) |
I289V |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or8u9 |
T |
C |
2: 86,001,886 (GRCm39) |
I92V |
probably benign |
Het |
Pdcd6ip |
A |
G |
9: 113,514,361 (GRCm39) |
|
probably benign |
Het |
Pde4b |
T |
C |
4: 102,454,707 (GRCm39) |
Y186H |
probably benign |
Het |
Pex7 |
A |
G |
10: 19,780,331 (GRCm39) |
V101A |
possibly damaging |
Het |
Phldb3 |
G |
A |
7: 24,312,004 (GRCm39) |
R106Q |
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,635,209 (GRCm39) |
V1339A |
probably benign |
Het |
Proser1 |
A |
G |
3: 53,386,383 (GRCm39) |
N755S |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,674,997 (GRCm39) |
D658G |
probably damaging |
Het |
Rassf8 |
A |
C |
6: 145,765,700 (GRCm39) |
|
probably benign |
Het |
Rfc4 |
G |
A |
16: 22,932,849 (GRCm39) |
Q363* |
probably null |
Het |
Rxfp1 |
T |
C |
3: 79,552,282 (GRCm39) |
N673S |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,556,628 (GRCm39) |
E319G |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,345,984 (GRCm39) |
|
probably benign |
Het |
Scube2 |
C |
T |
7: 109,423,971 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
Slc6a13 |
A |
G |
6: 121,301,262 (GRCm39) |
N184D |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,182,054 (GRCm39) |
|
probably benign |
Het |
Slf1 |
T |
A |
13: 77,260,867 (GRCm39) |
|
probably benign |
Het |
Smarca4 |
G |
A |
9: 21,612,168 (GRCm39) |
V1518I |
probably damaging |
Het |
Smyd3 |
A |
G |
1: 179,250,993 (GRCm39) |
|
probably benign |
Het |
Sox5 |
A |
G |
6: 144,155,064 (GRCm39) |
F11L |
probably benign |
Het |
Spag17 |
T |
C |
3: 100,014,143 (GRCm39) |
S2139P |
probably benign |
Het |
Spice1 |
A |
T |
16: 44,185,939 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
T |
A |
2: 29,900,704 (GRCm39) |
|
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,066,286 (GRCm39) |
N571K |
probably damaging |
Het |
Tbl3 |
A |
G |
17: 24,920,307 (GRCm39) |
L670P |
probably damaging |
Het |
Tmem45a2 |
A |
G |
16: 56,867,359 (GRCm39) |
V114A |
possibly damaging |
Het |
Tmigd3 |
A |
G |
3: 105,826,053 (GRCm39) |
N132D |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,567,778 (GRCm39) |
D19378G |
probably damaging |
Het |
Ugcg |
C |
A |
4: 59,189,739 (GRCm39) |
Y32* |
probably null |
Het |
Ush2a |
C |
T |
1: 188,582,301 (GRCm39) |
P3788L |
probably damaging |
Het |
Usp22 |
T |
A |
11: 61,050,023 (GRCm39) |
|
probably benign |
Het |
Xaf1 |
T |
C |
11: 72,197,381 (GRCm39) |
|
probably benign |
Het |
Zbtb41 |
C |
T |
1: 139,374,673 (GRCm39) |
T711I |
probably damaging |
Het |
Zfp457 |
T |
C |
13: 67,442,180 (GRCm39) |
T132A |
possibly damaging |
Het |
Zfp64 |
T |
G |
2: 168,754,150 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTAAGCTGAGAGCAAGTGGTCCTG -3'
(R):5'- AAGCCCTCTGAGATCATGCTTTGTC -3'
Sequencing Primer
(F):5'- AAGTGGTCCTGCAAGGC -3'
(R):5'- ttagaccacacagacagtaagag -3'
|
Posted On |
2013-05-09 |