Incidental Mutation 'R0196:Ephb3'
| ID |
23465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb3
|
| Ensembl Gene |
ENSMUSG00000005958 |
| Gene Name |
Eph receptor B3 |
| Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
| MMRRC Submission |
038455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.927)
|
| Stock # |
R0196 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21036804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 343
(N343I)
|
| 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: N343I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: N343I
| 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 |
unknown
Transcript: ENSMUST00000161063
AA Change: N89I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232407
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 81.8%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,446,591 (GRCm39) |
|
probably benign |
Het |
| Aass |
G |
A |
6: 23,109,519 (GRCm39) |
P317L |
probably damaging |
Het |
| Abca12 |
T |
A |
1: 71,298,972 (GRCm39) |
N2313I |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,071,594 (GRCm39) |
I46T |
probably benign |
Het |
| Adipoq |
T |
G |
16: 22,965,393 (GRCm39) |
|
probably null |
Het |
| Amy1 |
A |
T |
3: 113,363,070 (GRCm39) |
D92E |
probably benign |
Het |
| Asb15 |
G |
A |
6: 24,564,392 (GRCm39) |
R282Q |
probably damaging |
Het |
| Bag6 |
G |
C |
17: 35,363,239 (GRCm39) |
G693A |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,887,282 (GRCm39) |
I870T |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,766,463 (GRCm39) |
K356R |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,360,076 (GRCm39) |
Q525R |
possibly damaging |
Het |
| Cd4 |
T |
C |
6: 124,844,769 (GRCm39) |
R339G |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,917,066 (GRCm39) |
S350P |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,249,509 (GRCm39) |
S469T |
probably damaging |
Het |
| Ckap2l |
A |
T |
2: 129,127,342 (GRCm39) |
S279T |
probably benign |
Het |
| Clnk |
T |
A |
5: 38,927,282 (GRCm39) |
N66Y |
probably damaging |
Het |
| Col27a1 |
A |
T |
4: 63,142,503 (GRCm39) |
T64S |
probably benign |
Het |
| Crtc1 |
T |
C |
8: 70,838,871 (GRCm39) |
D599G |
probably damaging |
Het |
| Cyp2c23 |
A |
C |
19: 44,000,795 (GRCm39) |
I363S |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,911,139 (GRCm39) |
I4519F |
possibly damaging |
Het |
| Dner |
T |
A |
1: 84,348,553 (GRCm39) |
I716F |
probably damaging |
Het |
| Dsel |
T |
G |
1: 111,789,333 (GRCm39) |
T401P |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,861,746 (GRCm39) |
D1175G |
probably benign |
Het |
| Fbxw10 |
T |
A |
11: 62,768,070 (GRCm39) |
F974I |
probably benign |
Het |
| Gfi1b |
T |
C |
2: 28,503,786 (GRCm39) |
Y138C |
probably damaging |
Het |
| Gm11168 |
T |
A |
9: 3,005,175 (GRCm39) |
L6H |
probably benign |
Het |
| Grb10 |
A |
C |
11: 11,895,583 (GRCm39) |
V247G |
probably damaging |
Het |
| Gstp2 |
A |
T |
19: 4,090,514 (GRCm39) |
|
probably null |
Het |
| Hars2 |
C |
T |
18: 36,922,257 (GRCm39) |
Q291* |
probably null |
Het |
| Hyal4 |
G |
T |
6: 24,756,220 (GRCm39) |
W146L |
probably damaging |
Het |
| Il22ra1 |
C |
T |
4: 135,461,556 (GRCm39) |
T107I |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,209,540 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,515,450 (GRCm39) |
S119P |
probably damaging |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,754,636 (GRCm39) |
V137A |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,018,545 (GRCm39) |
E226V |
probably damaging |
Het |
| Mcemp1 |
A |
T |
8: 3,718,201 (GRCm39) |
Q165L |
probably benign |
Het |
| Mcpt9 |
T |
A |
14: 56,265,453 (GRCm39) |
K82M |
probably benign |
Het |
| Mpzl3 |
A |
G |
9: 44,973,458 (GRCm39) |
T66A |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 88,287,788 (GRCm39) |
V143I |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,815,684 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
G |
T |
7: 4,343,972 (GRCm39) |
C153F |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,359,595 (GRCm39) |
M1411K |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,469,098 (GRCm39) |
V786D |
probably damaging |
Het |
| Nisch |
T |
C |
14: 30,925,351 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,963,694 (GRCm39) |
Y1093N |
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Or1e32 |
A |
T |
11: 73,705,731 (GRCm39) |
M59K |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
| Oxa1l |
T |
C |
14: 54,600,944 (GRCm39) |
I139T |
probably damaging |
Het |
| P3h3 |
T |
A |
6: 124,822,235 (GRCm39) |
N583Y |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,711,147 (GRCm39) |
|
probably null |
Het |
| Pcnp |
C |
T |
16: 55,844,896 (GRCm39) |
|
probably benign |
Het |
| Pdzd8 |
G |
T |
19: 59,289,563 (GRCm39) |
D612E |
probably benign |
Het |
| Pi4kb |
T |
C |
3: 94,906,261 (GRCm39) |
S8P |
probably damaging |
Het |
| Pikfyve |
T |
G |
1: 65,295,231 (GRCm39) |
V1454G |
possibly damaging |
Het |
| Podn |
T |
C |
4: 107,878,695 (GRCm39) |
N246D |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,330,243 (GRCm39) |
|
probably benign |
Het |
| R3hdm2 |
T |
C |
10: 127,320,390 (GRCm39) |
Y523H |
probably damaging |
Het |
| Rpf1 |
T |
A |
3: 146,213,904 (GRCm39) |
E231V |
possibly damaging |
Het |
| Slc16a10 |
C |
T |
10: 39,932,611 (GRCm39) |
E317K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 55,560,078 (GRCm39) |
I435F |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,344,683 (GRCm39) |
D629G |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,966,463 (GRCm39) |
I472T |
probably benign |
Het |
| Trp53 |
A |
G |
11: 69,479,506 (GRCm39) |
Y202C |
probably damaging |
Het |
| Ttc14 |
T |
A |
3: 33,863,403 (GRCm39) |
|
probably benign |
Het |
| Ugt1a1 |
C |
T |
1: 88,140,277 (GRCm39) |
A185V |
possibly damaging |
Het |
| Usp28 |
A |
G |
9: 48,939,578 (GRCm39) |
D655G |
probably damaging |
Het |
| Vmn1r215 |
C |
T |
13: 23,260,254 (GRCm39) |
T98I |
probably damaging |
Het |
| Vmn2r121 |
G |
T |
X: 123,041,879 (GRCm39) |
T426N |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,614,835 (GRCm39) |
N852D |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 146,889,580 (GRCm39) |
D654E |
probably damaging |
Het |
| Yju2 |
C |
A |
17: 56,271,653 (GRCm39) |
D191E |
probably damaging |
Het |
| Zfp335 |
C |
G |
2: 164,738,065 (GRCm39) |
A849P |
possibly damaging |
Het |
| Zfp954 |
C |
T |
7: 7,118,390 (GRCm39) |
V385M |
probably damaging |
Het |
| Zmynd15 |
A |
G |
11: 70,355,052 (GRCm39) |
T350A |
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 |
|
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'- ACCTAAGGGTGTGCTGTCTTCCTG -3'
(R):5'- CTGCCGAGGTACAAACTCTACGTTG -3'
Sequencing Primer
(F):5'- tgaggtatggaggatggagaag -3'
(R):5'- TTGTCATCGCAGCGTGAAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation