Mutagenetix > Incidental Mutation

Incidental Mutation 'R2439:Ephb6'

249729

Institutional Source

Beutler Lab

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 #

R2439 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

41582416-41597443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41595669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 809 (H809Q)

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: H809Q

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869
AA Change: H809Q

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

noncoding transcript
Transcript: ENSMUST00000194405

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11b	C	A	3: 35,868,233 (GRCm39)	T635K	possibly damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Btla	G	T	16: 45,059,503 (GRCm39)	C69F	probably damaging	Het
Cdh10	T	G	15: 19,013,484 (GRCm39)	L695V	probably damaging	Het
Cfap44	C	T	16: 44,301,609 (GRCm39)		probably benign	Het
Dock10	T	G	1: 80,510,149 (GRCm39)	N1560H	probably damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Gdf7	A	G	12: 8,348,050 (GRCm39)	S416P	probably damaging	Het
Ints8	T	C	4: 11,225,725 (GRCm39)	M611V	probably benign	Het
Lypd8l	A	G	11: 58,501,603 (GRCm39)	C127R	probably damaging	Het
Mical2	A	G	7: 111,994,002 (GRCm39)	E504G	probably damaging	Het
Mrps30	G	A	13: 118,521,808 (GRCm39)	P231S	probably damaging	Het
Nr1h3	T	C	2: 91,020,565 (GRCm39)	D256G	probably benign	Het
Pramel5	T	C	4: 144,000,310 (GRCm39)	M89V	probably benign	Het
Psg18	T	C	7: 18,080,044 (GRCm39)	T386A	probably benign	Het
Ptprc	A	G	1: 137,993,890 (GRCm39)	V1180A	possibly damaging	Het
Rassf8	T	C	6: 145,761,060 (GRCm39)	S129P	probably damaging	Het
Rbm6	A	G	9: 107,656,796 (GRCm39)	Y994H	probably damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc2a4	A	G	11: 69,836,451 (GRCm39)	F222S	possibly damaging	Het
Smarca2	T	C	19: 26,668,854 (GRCm39)		probably null	Het
Tmtc4	T	G	14: 123,209,315 (GRCm39)	N110T	probably damaging	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,654,707 (GRCm39)		probably benign	Het
Umad1	T	A	6: 8,427,078 (GRCm39)	D110E	probably damaging	Het
Ylpm1	A	G	12: 85,060,891 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGTATGTTTACCCTGCTG -3'
(R):5'- CACGACCTCTGCATTGACAG -3'

Sequencing Primer
(F):5'- GCTGGTGACCTCTGTTCTCTG -3'
(R):5'- CGACCTCTGCATTGACAGTAAGG -3'

Posted On

2014-11-12