Mutagenetix > Incidental Mutation

Incidental Mutation 'P4748:Ephb6'

26536

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: 0.680) question?

Stock #

P4748 () of strain 712

Quality Score

222

Status

Validated (trace)

Chromosome

Chromosomal Location

41582416-41597443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41594219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 583 (P583L)

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 damaging
Transcript: ENSMUST00000114732
AA Change: P583L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869
AA Change: P583L

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

0.1655

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.5%
20x: 94.5%

Validation Efficiency

87% (26/30)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930556J24Rik	A	T	11: 3,888,178 (GRCm39)		probably null	Het
Acoxl	T	C	2: 127,928,264 (GRCm39)		probably benign	Het
Ahi1	G	C	10: 20,848,009 (GRCm39)	R472S	probably damaging	Het
Akap10	A	G	11: 61,763,846 (GRCm39)	L662P	possibly damaging	Het
Arhgef10	C	T	8: 14,978,925 (GRCm39)	T64M	possibly damaging	Het
Ccr4	C	T	9: 114,321,906 (GRCm39)	G53D	probably damaging	Het
Cdc25a	T	C	9: 109,713,176 (GRCm39)		probably benign	Het
Clec4n	A	C	6: 123,221,499 (GRCm39)	Q114H	probably damaging	Het
Cmya5	A	G	13: 93,210,983 (GRCm39)		probably benign	Het
Depdc1a	T	C	3: 159,228,184 (GRCm39)	V312A	probably damaging	Het
Klra8	A	T	6: 130,099,007 (GRCm39)	D185E	possibly damaging	Het
Meis2	T	A	2: 115,694,961 (GRCm39)	Q394L	probably benign	Het
Or2t47	G	A	11: 58,442,348 (GRCm39)	T239I	probably damaging	Het
Pzp	C	T	6: 128,467,052 (GRCm39)	G1107D	probably damaging	Het
Ralgapa2	C	T	2: 146,188,731 (GRCm39)	W1350*	probably null	Het
Scand1	C	A	2: 156,153,865 (GRCm39)	R135L	probably damaging	Het
Spopl	A	T	2: 23,401,455 (GRCm39)	M351K	probably benign	Het
Tmed4	T	C	11: 6,223,727 (GRCm39)		probably benign	Het
Ube2e2	A	G	14: 18,630,297 (GRCm38)		probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp51	GATGCAT	GAT	X: 151,791,227 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,031 (GRCm39)	D425E	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
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

Predicted Primers

PCR Primer
(F):5'- GTCTGAATGCATGGAGTGTGGACAG -3'
(R):5'- AACCCTTTCCTCACCAGGCAAGTG -3'

Sequencing Primer
(F):5'- AGTGTGGACAGTTCTTGAATACAG -3'
(R):5'- AGCCTAGAATGACACTTGCTTC -3'

Posted On

2013-04-16