Incidental Mutation 'R8697:Ephb6'
| ID |
668777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb6
|
| Ensembl Gene |
ENSMUSG00000029869 |
| Gene Name |
Eph receptor B6 |
| Synonyms |
Cekl, Mep |
| MMRRC Submission |
068551-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.659)
|
| Stock # |
R8697 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
41582416-41597443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41591157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 105
(H105Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114732]
|
| AlphaFold |
O08644 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114732
AA Change: H105Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869
AA Change: H105Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
EPH_lbd
|
34 |
227 |
2.18e-100 |
SMART |
|
low complexity region
|
242 |
255 |
N/A |
INTRINSIC |
|
Pfam:GCC2_GCC3
|
299 |
341 |
1.9e-9 |
PFAM |
|
FN3
|
365 |
462 |
3.59e-3 |
SMART |
|
FN3
|
481 |
562 |
3.73e-10 |
SMART |
|
Pfam:EphA2_TM
|
589 |
660 |
3.4e-16 |
PFAM |
|
Pfam:Pkinase
|
663 |
908 |
1.4e-29 |
PFAM |
|
Pfam:Pkinase_Tyr
|
663 |
908 |
1.1e-67 |
PFAM |
|
SAM
|
938 |
1005 |
1e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167082
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: T cell responses such as lymphokine secretion, proliferation, and the development of delayed-type skin hypersensitivity and experimental autoimmune encephalitis were compromised in homozygous null mutants. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
C |
T |
1: 161,795,565 (GRCm39) |
A8T |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,351,441 (GRCm39) |
V1130A |
probably damaging |
Het |
| Ackr1 |
A |
G |
1: 173,159,775 (GRCm39) |
F248S |
probably damaging |
Het |
| Alx4 |
G |
A |
2: 93,505,657 (GRCm39) |
R253Q |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,122,783 (GRCm39) |
I485V |
possibly damaging |
Het |
| Aqp7 |
T |
C |
4: 41,045,305 (GRCm39) |
E25G |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,307,524 (GRCm39) |
N1753D |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,570,865 (GRCm39) |
N1063K |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,231,945 (GRCm39) |
V1801A |
probably benign |
Het |
| Ccdc171 |
T |
C |
4: 83,600,577 (GRCm39) |
W868R |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,710,779 (GRCm39) |
Y165H |
probably damaging |
Het |
| Clip4 |
G |
T |
17: 72,163,270 (GRCm39) |
G614V |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,838,986 (GRCm39) |
M236L |
probably damaging |
Het |
| Ctps1 |
T |
C |
4: 120,399,947 (GRCm39) |
D470G |
probably benign |
Het |
| Dmwd |
A |
C |
7: 18,812,113 (GRCm39) |
Q189P |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,976,985 (GRCm39) |
I1869T |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,497,998 (GRCm39) |
N361S |
probably benign |
Het |
| Fkbp15 |
A |
T |
4: 62,239,295 (GRCm39) |
Y603* |
probably null |
Het |
| Flt3 |
T |
C |
5: 147,294,811 (GRCm39) |
Y420C |
possibly damaging |
Het |
| Frem2 |
T |
A |
3: 53,433,249 (GRCm39) |
T2692S |
probably damaging |
Het |
| Gna12 |
T |
A |
5: 140,771,200 (GRCm39) |
R157S |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,651,883 (GRCm39) |
S243T |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,819,320 (GRCm39) |
|
probably benign |
Het |
| Hoxd11 |
G |
A |
2: 74,513,013 (GRCm39) |
G93R |
unknown |
Het |
| Hydin |
A |
G |
8: 111,259,515 (GRCm39) |
I2496V |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,226,308 (GRCm39) |
I2455T |
probably benign |
Het |
| Ilvbl |
A |
T |
10: 78,419,196 (GRCm39) |
R482* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,500,327 (GRCm39) |
Y2640C |
probably damaging |
Het |
| Kif20a |
C |
G |
18: 34,761,584 (GRCm39) |
Q326E |
probably benign |
Het |
| Lamp1 |
A |
T |
8: 13,224,448 (GRCm39) |
M371L |
possibly damaging |
Het |
| Lcn6 |
A |
G |
2: 25,567,166 (GRCm39) |
N56D |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,784 (GRCm39) |
V434A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,065,615 (GRCm39) |
N331S |
probably damaging |
Het |
| Mndal |
C |
A |
1: 173,700,558 (GRCm39) |
E138* |
probably null |
Het |
| Morc3 |
T |
C |
16: 93,667,908 (GRCm39) |
V762A |
probably benign |
Het |
| Ngef |
A |
T |
1: 87,417,459 (GRCm39) |
F279Y |
probably damaging |
Het |
| Or10ac1 |
A |
G |
6: 42,515,629 (GRCm39) |
V109A |
probably damaging |
Het |
| Or5m13b |
A |
T |
2: 85,754,200 (GRCm39) |
K196I |
possibly damaging |
Het |
| Padi4 |
GGAGCTCCTGA |
GGA |
4: 140,485,230 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
G |
A |
18: 37,441,832 (GRCm39) |
V381M |
probably benign |
Het |
| Ppm1d |
T |
C |
11: 85,227,986 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,877,055 (GRCm39) |
T807A |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 126,208,855 (GRCm39) |
K518E |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,328,274 (GRCm39) |
S1441G |
probably damaging |
Het |
| Slc52a3 |
A |
G |
2: 151,846,396 (GRCm39) |
D119G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,628,042 (GRCm39) |
H379Y |
unknown |
Het |
| Ssr1 |
G |
T |
13: 38,167,425 (GRCm39) |
S246* |
probably null |
Het |
| Tars2 |
C |
T |
3: 95,653,374 (GRCm39) |
E509K |
possibly damaging |
Het |
| Tepsin |
G |
T |
11: 119,988,354 (GRCm39) |
Y34* |
probably null |
Het |
| Tmtc2 |
A |
G |
10: 105,205,831 (GRCm39) |
I488T |
probably damaging |
Het |
| Trgc2 |
A |
T |
13: 19,491,514 (GRCm39) |
M69K |
|
Het |
| Ttn |
A |
G |
2: 76,575,120 (GRCm39) |
W25258R |
probably damaging |
Het |
| Utp14b |
T |
C |
1: 78,644,244 (GRCm39) |
M714T |
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,115,461 (GRCm39) |
H308Q |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,206,220 (GRCm39) |
D480G |
probably benign |
Het |
| Xcl1 |
C |
T |
1: 164,763,008 (GRCm39) |
V18I |
unknown |
Het |
| Zcchc2 |
C |
A |
1: 105,958,494 (GRCm39) |
N988K |
probably damaging |
Het |
|
| Other mutations in Ephb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Ephb6
|
APN |
6 |
41,592,845 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01691:Ephb6
|
APN |
6 |
41,591,449 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02052:Ephb6
|
APN |
6 |
41,590,256 (GRCm39) |
missense |
probably benign |
|
|
IGL02079:Ephb6
|
APN |
6 |
41,592,948 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03089:Ephb6
|
APN |
6 |
41,591,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4748:Ephb6
|
UTSW |
6 |
41,594,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0022:Ephb6
|
UTSW |
6 |
41,591,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0022:Ephb6
|
UTSW |
6 |
41,591,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0106:Ephb6
|
UTSW |
6 |
41,596,528 (GRCm39) |
unclassified |
probably benign |
|
|
R0106:Ephb6
|
UTSW |
6 |
41,596,528 (GRCm39) |
unclassified |
probably benign |
|
|
R0973:Ephb6
|
UTSW |
6 |
41,591,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0973:Ephb6
|
UTSW |
6 |
41,591,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0974:Ephb6
|
UTSW |
6 |
41,591,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1465:Ephb6
|
UTSW |
6 |
41,593,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Ephb6
|
UTSW |
6 |
41,593,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Ephb6
|
UTSW |
6 |
41,591,307 (GRCm39) |
nonsense |
probably null |
|
|
R1658:Ephb6
|
UTSW |
6 |
41,591,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Ephb6
|
UTSW |
6 |
41,594,300 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1733:Ephb6
|
UTSW |
6 |
41,596,654 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2191:Ephb6
|
UTSW |
6 |
41,593,019 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2439:Ephb6
|
UTSW |
6 |
41,595,669 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2915:Ephb6
|
UTSW |
6 |
41,591,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3020:Ephb6
|
UTSW |
6 |
41,591,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3499:Ephb6
|
UTSW |
6 |
41,593,093 (GRCm39) |
nonsense |
probably null |
|
|
R4606:Ephb6
|
UTSW |
6 |
41,593,508 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4663:Ephb6
|
UTSW |
6 |
41,594,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Ephb6
|
UTSW |
6 |
41,591,536 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4762:Ephb6
|
UTSW |
6 |
41,595,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4767:Ephb6
|
UTSW |
6 |
41,591,119 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4780:Ephb6
|
UTSW |
6 |
41,593,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Ephb6
|
UTSW |
6 |
41,593,743 (GRCm39) |
missense |
probably benign |
|
|
R4851:Ephb6
|
UTSW |
6 |
41,595,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5016:Ephb6
|
UTSW |
6 |
41,595,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5122:Ephb6
|
UTSW |
6 |
41,590,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5313:Ephb6
|
UTSW |
6 |
41,593,727 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5615:Ephb6
|
UTSW |
6 |
41,596,225 (GRCm39) |
missense |
probably benign |
|
|
R5623:Ephb6
|
UTSW |
6 |
41,593,415 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5686:Ephb6
|
UTSW |
6 |
41,596,638 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5840:Ephb6
|
UTSW |
6 |
41,592,507 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6147:Ephb6
|
UTSW |
6 |
41,593,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Ephb6
|
UTSW |
6 |
41,594,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6730:Ephb6
|
UTSW |
6 |
41,594,308 (GRCm39) |
nonsense |
probably null |
|
|
R7412:Ephb6
|
UTSW |
6 |
41,597,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Ephb6
|
UTSW |
6 |
41,594,981 (GRCm39) |
splice site |
probably null |
|
|
R7759:Ephb6
|
UTSW |
6 |
41,591,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7857:Ephb6
|
UTSW |
6 |
41,590,331 (GRCm39) |
missense |
probably benign |
|
|
R8425:Ephb6
|
UTSW |
6 |
41,595,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8898:Ephb6
|
UTSW |
6 |
41,590,293 (GRCm39) |
missense |
probably benign |
|
|
R8959:Ephb6
|
UTSW |
6 |
41,590,293 (GRCm39) |
missense |
probably benign |
|
|
R8961:Ephb6
|
UTSW |
6 |
41,590,293 (GRCm39) |
missense |
probably benign |
|
|
R8980:Ephb6
|
UTSW |
6 |
41,590,293 (GRCm39) |
missense |
probably benign |
|
|
R8989:Ephb6
|
UTSW |
6 |
41,590,293 (GRCm39) |
missense |
probably benign |
|
|
R8992:Ephb6
|
UTSW |
6 |
41,590,293 (GRCm39) |
missense |
probably benign |
|
|
R9065:Ephb6
|
UTSW |
6 |
41,590,293 (GRCm39) |
missense |
probably benign |
|
|
R9413:Ephb6
|
UTSW |
6 |
41,591,509 (GRCm39) |
missense |
|
|
|
R9512:Ephb6
|
UTSW |
6 |
41,593,030 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9617:Ephb6
|
UTSW |
6 |
41,596,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Ephb6
|
UTSW |
6 |
41,594,249 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9705:Ephb6
|
UTSW |
6 |
41,596,715 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9764:Ephb6
|
UTSW |
6 |
41,592,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0027:Ephb6
|
UTSW |
6 |
41,597,014 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGTAACAGATACAGCCC -3'
(R):5'- CATCTGCGGCAATTGTGTCC -3'
Sequencing Primer
(F):5'- CTCTGCAAACTCTGAGCAGTTATTG -3'
(R):5'- GCAATTGTGTCCACTTTGGTCCAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation