Incidental Mutation 'R0026:Ephb3'
| ID |
189191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb3
|
| Ensembl Gene |
ENSMUSG00000005958 |
| Gene Name |
Eph receptor B3 |
| Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
| MMRRC Submission |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
35 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21033667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 251
(D251G)
|
| 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: D251G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: D251G
| 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 benign
Transcript: ENSMUST00000231316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232407
|
| Meta Mutation Damage Score |
0.8714 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
93% (70/75) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,772,566 (GRCm39) |
I585N |
possibly damaging |
Het |
| A830005F24Rik |
C |
T |
13: 48,667,848 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
| Adam19 |
G |
T |
11: 46,027,086 (GRCm39) |
C573F |
probably damaging |
Het |
| Aff3 |
A |
G |
1: 38,242,974 (GRCm39) |
S948P |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,986,260 (GRCm39) |
Y300N |
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,809,130 (GRCm39) |
|
probably null |
Het |
| Cep135 |
C |
T |
5: 76,754,581 (GRCm39) |
R353* |
probably null |
Het |
| Cma1 |
A |
T |
14: 56,179,621 (GRCm39) |
C188S |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
| Dbn1 |
T |
C |
13: 55,625,597 (GRCm39) |
E275G |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,777,363 (GRCm39) |
Q203* |
probably null |
Het |
| Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
| Gm10801 |
T |
C |
2: 98,494,254 (GRCm39) |
|
probably benign |
Het |
| Got1l1 |
C |
T |
8: 27,690,276 (GRCm39) |
V132I |
probably benign |
Het |
| H2-M9 |
T |
C |
17: 36,952,419 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,708,818 (GRCm39) |
T519A |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
| Map1s |
G |
A |
8: 71,367,282 (GRCm39) |
G729D |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 120,137,174 (GRCm39) |
I465V |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,096,952 (GRCm39) |
R108G |
possibly damaging |
Het |
| Mrgprx2 |
T |
A |
7: 48,131,771 (GRCm39) |
H106L |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,329,255 (GRCm39) |
Y6C |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,297,334 (GRCm39) |
D773G |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 72,019,217 (GRCm39) |
S3P |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,694 (GRCm39) |
V199D |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,892 (GRCm39) |
V114I |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,385,549 (GRCm39) |
F338L |
probably benign |
Het |
| Pdcl3 |
T |
A |
1: 39,030,361 (GRCm39) |
L14Q |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,821 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
| Relt |
C |
A |
7: 100,499,428 (GRCm39) |
E164* |
probably null |
Het |
| Rnf185 |
T |
C |
11: 3,376,617 (GRCm39) |
D86G |
probably damaging |
Het |
| Rrm2b |
T |
C |
15: 37,953,985 (GRCm39) |
E21G |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,351,632 (GRCm39) |
I783T |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,403,665 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
| Slc5a2 |
T |
A |
7: 127,869,225 (GRCm39) |
I335N |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
| Sstr1 |
T |
A |
12: 58,259,644 (GRCm39) |
M89K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,241,969 (GRCm39) |
S1612R |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 120,330,975 (GRCm39) |
|
probably null |
Het |
| Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
| Tmem125 |
A |
G |
4: 118,399,270 (GRCm39) |
S54P |
possibly damaging |
Het |
| Ttf1 |
T |
A |
2: 28,961,361 (GRCm39) |
I583N |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
| Unc5b |
A |
T |
10: 60,610,371 (GRCm39) |
I482N |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,560,743 (GRCm39) |
Q824K |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
| Vmn2r61 |
T |
G |
7: 41,924,898 (GRCm39) |
I484R |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
| Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
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 |
|
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 |
|
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'- ACAAGAAGTGTGCATCCACCACTG -3'
(R):5'- AGGTTCGCACTGCTCACTAATCAAG -3'
Sequencing Primer
(F):5'- GCAGGCTTCGCACTCTTC -3'
(R):5'- cccaccactgagtatgtcc -3'
|
| Posted On |
2014-05-13 |
Incidental Mutation