Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01691:Ephb6'

104102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ephb6

Ensembl Gene

ENSMUSG00000029869

Gene Name

Eph receptor B6

Synonyms

Cekl, Mep

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.659) question?

Stock #

IGL01691

Quality Score

Status

Chromosome

Chromosomal Location

41582416-41597443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41591449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 202 (R202H)

Ref Sequence

ENSEMBL: ENSMUSP00000110380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114732]

AlphaFold

O08644

Predicted Effect

probably benign
Transcript: ENSMUST00000114732
AA Change: R202H

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869
AA Change: R202H

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

noncoding transcript
Transcript: ENSMUST00000170624

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	T	A	3: 32,774,349 (GRCm39)	M282K	possibly damaging	Het
Adam22	T	C	5: 8,142,742 (GRCm39)	N831S	probably damaging	Het
Adamdec1	C	T	14: 68,810,556 (GRCm39)	R200Q	probably damaging	Het
Asb15	A	G	6: 24,567,271 (GRCm39)	I531V	probably benign	Het
Btrc	T	A	19: 45,501,117 (GRCm39)	D223E	probably benign	Het
Ccdc30	T	A	4: 119,250,761 (GRCm39)	E161V	probably damaging	Het
Cd38	G	A	5: 44,060,928 (GRCm39)		probably benign	Het
Clec2d	T	C	6: 129,161,185 (GRCm39)	F94S	probably damaging	Het
Cwf19l1	C	T	19: 44,109,311 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,430,269 (GRCm39)	N96K	probably benign	Het
Gm43191	T	A	3: 116,471,616 (GRCm39)	I218L	probably benign	Het
Gm7168	G	A	17: 14,169,140 (GRCm39)	S169N	probably damaging	Het
Gm7964	T	C	7: 83,405,344 (GRCm39)		noncoding transcript	Het
Kif20b	T	C	19: 34,913,143 (GRCm39)		probably benign	Het
Kmt2e	A	G	5: 23,702,089 (GRCm39)	T906A	probably benign	Het
Mboat2	A	G	12: 25,004,221 (GRCm39)	N341D	probably damaging	Het
Msh6	T	C	17: 88,292,907 (GRCm39)	V554A	probably benign	Het
Ndc80	T	C	17: 71,815,634 (GRCm39)	T384A	possibly damaging	Het
Or1af1	G	T	2: 37,110,038 (GRCm39)	C179F	probably damaging	Het
Or8g18	G	A	9: 39,149,315 (GRCm39)	T135I	probably benign	Het
Ptpn5	G	T	7: 46,732,906 (GRCm39)	H312Q	probably benign	Het
Rftn2	C	T	1: 55,253,445 (GRCm39)	V53I	probably damaging	Het
Rgs20	T	C	1: 4,987,145 (GRCm39)	T124A	probably benign	Het
Sox18	T	C	2: 181,313,143 (GRCm39)	S58G	possibly damaging	Het
Togaram2	A	G	17: 72,036,485 (GRCm39)	M1012V	probably null	Het
Usp48	A	T	4: 137,350,583 (GRCm39)		probably null	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
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
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

Posted On

2014-01-21