Incidental Mutation 'R4606:Ephb6'
| ID |
346009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb6
|
| Ensembl Gene |
ENSMUSG00000029869 |
| Gene Name |
Eph receptor B6 |
| Synonyms |
Cekl, Mep |
| MMRRC Submission |
041817-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.659)
|
| Stock # |
R4606 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
41582416-41597443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41593508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 518
(Y518C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031902]
[ENSMUST00000114732]
[ENSMUST00000201471]
|
| AlphaFold |
O08644 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031902
|
| SMART Domains |
Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
44 |
74 |
2.39e2 |
SMART |
|
ANK
|
78 |
107 |
6.17e-1 |
SMART |
|
ANK
|
116 |
145 |
3.06e-5 |
SMART |
|
ANK
|
162 |
191 |
1.85e-4 |
SMART |
|
Blast:ANK
|
195 |
223 |
3e-10 |
BLAST |
|
ANK
|
238 |
267 |
2.47e2 |
SMART |
|
Pfam:Ion_trans
|
327 |
589 |
9.8e-18 |
PFAM |
|
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114732
AA Change: Y518C
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869
AA Change: Y518C
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201471
|
| SMART Domains |
Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
44 |
74 |
2.39e2 |
SMART |
|
ANK
|
78 |
107 |
6.17e-1 |
SMART |
|
ANK
|
116 |
145 |
3.06e-5 |
SMART |
|
ANK
|
162 |
191 |
1.85e-4 |
SMART |
|
Blast:ANK
|
195 |
223 |
3e-10 |
BLAST |
|
ANK
|
238 |
267 |
2.47e2 |
SMART |
|
Pfam:Ion_trans
|
327 |
589 |
9.8e-18 |
PFAM |
|
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2279 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (69/72) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,937,374 (GRCm39) |
W178R |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,896,345 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
A |
6: 34,283,599 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,634 (GRCm39) |
F1199S |
unknown |
Het |
| Atp4b |
A |
G |
8: 13,439,998 (GRCm39) |
F116S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,729,443 (GRCm39) |
S127P |
probably damaging |
Het |
| Blk |
C |
T |
14: 63,611,652 (GRCm39) |
V428I |
probably benign |
Het |
| Ccser1 |
T |
C |
6: 61,288,568 (GRCm39) |
S244P |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,173,951 (GRCm39) |
I235F |
probably damaging |
Het |
| Cyp2g1 |
T |
A |
7: 26,513,579 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,829,421 (GRCm39) |
I278F |
probably benign |
Het |
| Degs1 |
T |
C |
1: 182,104,388 (GRCm39) |
D299G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,113,210 (GRCm39) |
V1542I |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,095,248 (GRCm39) |
S2942R |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,016,015 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,127,760 (GRCm39) |
F606I |
possibly damaging |
Het |
| Extl1 |
A |
G |
4: 134,098,690 (GRCm39) |
S114P |
probably damaging |
Het |
| Extl1 |
A |
C |
4: 134,098,691 (GRCm39) |
D113E |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,403,720 (GRCm39) |
V157A |
possibly damaging |
Het |
| Fcho1 |
A |
T |
8: 72,165,124 (GRCm39) |
D444E |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,450,036 (GRCm39) |
D71V |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,965,190 (GRCm39) |
D316E |
possibly damaging |
Het |
| Gys2 |
A |
T |
6: 142,400,210 (GRCm39) |
F334I |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,886,608 (GRCm39) |
R360L |
possibly damaging |
Het |
| Kazn |
A |
C |
4: 141,845,599 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
T |
15: 98,737,597 (GRCm39) |
|
probably benign |
Het |
| Krr1 |
T |
C |
10: 111,811,582 (GRCm39) |
|
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,384,930 (GRCm39) |
E389K |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,460,658 (GRCm39) |
V428A |
probably benign |
Het |
| Lvrn |
C |
A |
18: 46,997,832 (GRCm39) |
T260K |
possibly damaging |
Het |
| Mcc |
C |
T |
18: 44,601,488 (GRCm39) |
E614K |
probably damaging |
Het |
| Msrb3 |
A |
T |
10: 120,685,902 (GRCm39) |
V81D |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,832,268 (GRCm39) |
|
noncoding transcript |
Het |
| Myadm |
T |
A |
7: 3,345,916 (GRCm39) |
L226* |
probably null |
Het |
| Myof |
C |
T |
19: 37,955,547 (GRCm39) |
V526M |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,327,204 (GRCm39) |
|
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,874,718 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4b1 |
G |
T |
2: 89,979,160 (GRCm39) |
|
probably benign |
Het |
| Or4c35 |
C |
A |
2: 89,808,350 (GRCm39) |
A76D |
possibly damaging |
Het |
| Or9g10 |
T |
A |
2: 85,584,284 (GRCm39) |
|
probably benign |
Het |
| Pars2 |
T |
C |
4: 106,511,247 (GRCm39) |
V307A |
probably benign |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,581 (GRCm39) |
Y177* |
probably null |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,705 (GRCm39) |
D338E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,224,780 (GRCm39) |
R199* |
probably null |
Het |
| Pla2g4f |
C |
T |
2: 120,144,467 (GRCm39) |
R24Q |
probably benign |
Het |
| Pnma2 |
T |
C |
14: 67,153,681 (GRCm39) |
I35T |
probably benign |
Het |
| Podn |
C |
A |
4: 107,875,064 (GRCm39) |
A568S |
probably benign |
Het |
| Pou3f1 |
A |
T |
4: 124,552,629 (GRCm39) |
E377V |
probably damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,038,929 (GRCm39) |
D494G |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,461 (GRCm39) |
D137E |
probably damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,929,495 (GRCm39) |
T71S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,486 (GRCm39) |
P1192L |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf217 |
T |
A |
10: 31,393,472 (GRCm39) |
K370* |
probably null |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Scaper |
A |
T |
9: 55,563,187 (GRCm39) |
|
probably null |
Het |
| Sos2 |
T |
C |
12: 69,661,380 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
C |
T |
2: 119,897,927 (GRCm39) |
|
probably null |
Het |
| Sumo1 |
A |
G |
1: 59,683,668 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
C |
A |
12: 76,036,027 (GRCm39) |
N3771K |
probably damaging |
Het |
| Tbx18 |
T |
C |
9: 87,612,822 (GRCm39) |
I26V |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,955,988 (GRCm39) |
M1140K |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,966,356 (GRCm39) |
|
probably null |
Het |
| Wdr7 |
C |
T |
18: 63,913,016 (GRCm39) |
Q946* |
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,553,975 (GRCm39) |
D46G |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 169,961,670 (GRCm39) |
N219S |
possibly damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,577,953 (GRCm39) |
I256T |
probably benign |
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 |
|
|
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 |
|
R8697:Ephb6
|
UTSW |
6 |
41,591,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GCCAGCCTGCATTAGACATC -3'
(R):5'- TCTGCCTAGGGACAACAATCAC -3'
Sequencing Primer
(F):5'- AGCCTGCATTAGACATCTTATTCTG -3'
(R):5'- GGACAACAATCACTCACTCACTTTTC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation