Incidental Mutation 'R7413:Ephb3'
| ID |
575242 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21033457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 181
(F181S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
[ENSMUST00000231316]
[ENSMUST00000232407]
|
| AlphaFold |
P54754 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006112
AA Change: F181S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: F181S
| 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 |
probably benign
Transcript: ENSMUST00000161063
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231316
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232407
AA Change: F147S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
A |
T |
4: 111,514,495 (GRCm39) |
D502V |
probably benign |
Het |
| Akap5 |
T |
A |
12: 76,375,678 (GRCm39) |
V370E |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,288 (GRCm39) |
C1844R |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,831,542 (GRCm39) |
K1191E |
probably benign |
Het |
| Bsn |
C |
T |
9: 108,016,690 (GRCm39) |
R107Q |
possibly damaging |
Het |
| Catsperb |
G |
T |
12: 101,447,307 (GRCm39) |
R269L |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,804 (GRCm39) |
S156P |
unknown |
Het |
| Cdh16 |
C |
T |
8: 105,346,572 (GRCm39) |
A241T |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,172,972 (GRCm39) |
S1367P |
probably damaging |
Het |
| Cds2 |
C |
T |
2: 132,135,235 (GRCm39) |
P42L |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,245,431 (GRCm39) |
Y61H |
possibly damaging |
Het |
| Dclre1a |
G |
A |
19: 56,531,082 (GRCm39) |
P755S |
probably damaging |
Het |
| Ddi1 |
A |
T |
9: 6,265,670 (GRCm39) |
M233K |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,187,333 (GRCm39) |
Y474C |
probably damaging |
Het |
| Epha7 |
T |
A |
4: 28,871,838 (GRCm39) |
M389K |
probably benign |
Het |
| Epor |
G |
A |
9: 21,874,776 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
C |
A |
13: 62,985,067 (GRCm39) |
V285L |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,452,258 (GRCm39) |
D1694V |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,882,339 (GRCm39) |
M98K |
probably benign |
Het |
| Gcm2 |
A |
G |
13: 41,259,230 (GRCm39) |
S80P |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
| Gne |
T |
C |
4: 44,044,857 (GRCm39) |
N426D |
probably benign |
Het |
| Ifne |
A |
T |
4: 88,797,840 (GRCm39) |
*193R |
probably null |
Het |
| Igf2r |
G |
T |
17: 12,917,115 (GRCm39) |
S1595* |
probably null |
Het |
| Krt26 |
C |
T |
11: 99,225,887 (GRCm39) |
M226I |
probably benign |
Het |
| Lars2 |
G |
A |
9: 123,288,568 (GRCm39) |
V805I |
probably benign |
Het |
| Lrrc57 |
C |
A |
2: 120,436,577 (GRCm39) |
R177L |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,546,083 (GRCm39) |
E627G |
probably benign |
Het |
| Magel2 |
CCCTCCTCCTCCTCCTCCTCCT |
CCCTCCTCCTCCTCCTCCT |
7: 62,027,592 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,069,647 (GRCm39) |
V133E |
probably damaging |
Het |
| Med12l |
A |
G |
3: 58,998,971 (GRCm39) |
T644A |
probably benign |
Het |
| Meis1 |
T |
A |
11: 18,938,357 (GRCm39) |
D218V |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,768,970 (GRCm39) |
E1439G |
|
Het |
| Naa12 |
T |
C |
18: 80,254,874 (GRCm39) |
V56A |
possibly damaging |
Het |
| Nckipsd |
G |
A |
9: 108,691,280 (GRCm39) |
V401I |
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,092,669 (GRCm39) |
I655V |
probably damaging |
Het |
| Oprm1 |
A |
T |
10: 6,778,919 (GRCm39) |
I107F |
probably damaging |
Het |
| Or4k42 |
A |
C |
2: 111,319,933 (GRCm39) |
I190R |
probably benign |
Het |
| Or52n3 |
A |
T |
7: 104,530,057 (GRCm39) |
I48F |
probably benign |
Het |
| Or5p51 |
T |
C |
7: 107,444,721 (GRCm39) |
D73G |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,945,704 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
T |
G |
3: 49,699,232 (GRCm39) |
S1077R |
possibly damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,975 (GRCm39) |
K312* |
probably null |
Het |
| Plekhh2 |
A |
T |
17: 84,873,724 (GRCm39) |
E336D |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,165,076 (GRCm39) |
S49T |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,052,927 (GRCm39) |
I1035V |
probably benign |
Het |
| Rlf |
C |
T |
4: 121,007,297 (GRCm39) |
G671D |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,128 (GRCm39) |
|
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,607,404 (GRCm39) |
Q275R |
probably benign |
Het |
| Slc10a1 |
G |
T |
12: 81,007,396 (GRCm39) |
F128L |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,357 (GRCm39) |
Y451* |
probably null |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Stambpl1 |
G |
C |
19: 34,204,116 (GRCm39) |
G69R |
probably damaging |
Het |
| Surf4 |
G |
T |
2: 26,814,455 (GRCm39) |
R149S |
probably benign |
Het |
| Tmem151a |
T |
C |
19: 5,132,702 (GRCm39) |
Y168C |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,861,746 (GRCm39) |
K416R |
possibly damaging |
Het |
| Tut4 |
T |
C |
4: 108,406,533 (GRCm39) |
I1367T |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,932,309 (GRCm39) |
I472T |
probably damaging |
Het |
| Vmn1r212 |
A |
C |
13: 23,067,718 (GRCm39) |
L205R |
probably damaging |
Het |
| Wscd2 |
T |
C |
5: 113,715,402 (GRCm39) |
I414T |
probably benign |
Het |
| Zfp1005 |
A |
C |
2: 150,108,081 (GRCm39) |
T14P |
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 |
|
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 |
|
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'- AGCATTCCCAACATCCCTGG -3'
(R):5'- GCTTGAGTGGTACAGAGACCTC -3'
Sequencing Primer
(F):5'- TGCAAGGAAACCTTCAACCTTTTC -3'
(R):5'- GTGGTACAGAGACCTCCACAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation