Mutagenetix > Incidental Mutation

Incidental Mutation 'R1465:Ephb6'

500307

Institutional Source

Beutler Lab

Gene Symbol

Ephb6

Ensembl Gene

ENSMUSG00000029869

Gene Name

Eph receptor B6

Synonyms

Cekl, Mep

MMRRC Submission

039519-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.659) question?

Stock #

R1465 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

41582416-41597443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41593040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 426 (F426S)

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: F426S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869
AA Change: F426S

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

unknown
Transcript: ENSMUST00000167082
AA Change: S123P

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

Coding Region Coverage

1x: 99.2%
3x: 97.3%
10x: 87.6%
20x: 63.2%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,651,866 (GRCm39)	Y121H	probably damaging	Het
Abca13	G	T	11: 9,349,303 (GRCm39)	G3626W	probably damaging	Het
Acvr1c	A	G	2: 58,174,973 (GRCm39)	Y192H	probably damaging	Het
Afm	A	T	5: 90,698,200 (GRCm39)	D534V	probably damaging	Het
Agl	T	C	3: 116,565,021 (GRCm39)	E1076G	probably benign	Het
Ahcyl	T	C	16: 45,974,211 (GRCm39)	K389E	probably benign	Het
Angptl3	A	T	4: 98,925,757 (GRCm39)	H361L	probably benign	Het
Apob	T	C	12: 8,061,421 (GRCm39)	F3301S	possibly damaging	Het
Arhgef33	T	A	17: 80,674,730 (GRCm39)	C376S	possibly damaging	Het
Ass1	A	G	2: 31,410,428 (GRCm39)	*413W	probably null	Het
Atp6v1h	T	A	1: 5,165,911 (GRCm39)	L127Q	probably damaging	Het
Bcl2l1	G	A	2: 152,671,870 (GRCm39)	S14F	probably damaging	Het
Bhmt1b	T	G	18: 87,775,382 (GRCm39)	F302V	probably damaging	Het
Birc6	G	A	17: 74,930,853 (GRCm39)	A2477T	probably benign	Het
Bpifb9a	G	A	2: 154,112,941 (GRCm39)	A589T	possibly damaging	Het
Casp9	C	A	4: 141,533,151 (GRCm39)	T252K	probably benign	Het
Cct4	G	A	11: 22,952,922 (GRCm39)	D533N	probably damaging	Het
Clcn6	A	C	4: 148,098,358 (GRCm39)	I555S	probably damaging	Het
Col4a4	A	T	1: 82,475,543 (GRCm39)		probably null	Het
Cyp2d10	A	T	15: 82,288,129 (GRCm39)		probably null	Het
D930048N14Rik	A	G	11: 51,545,740 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,204,764 (GRCm39)		probably null	Het
Dnah11	T	C	12: 118,002,430 (GRCm39)	E2240G	probably damaging	Het
Dnmt3a	A	G	12: 3,916,088 (GRCm39)	E17G	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Dpy19l2	A	G	9: 24,580,618 (GRCm39)	M241T	probably benign	Het
Dpy19l4	A	G	4: 11,296,034 (GRCm39)	S212P	probably damaging	Het
F5	A	T	1: 164,026,402 (GRCm39)	D1658V	probably benign	Het
Faah	A	T	4: 115,856,755 (GRCm39)	V469E	probably damaging	Het
Fas	T	C	19: 34,294,013 (GRCm39)	C123R	probably damaging	Het
Fhod1	T	C	8: 106,065,546 (GRCm39)		probably benign	Het
Filip1	A	G	9: 79,805,589 (GRCm39)	V55A	probably benign	Het
Frmpd1	G	A	4: 45,273,197 (GRCm39)	R372Q	probably damaging	Het
Glyctk	C	T	9: 106,034,806 (GRCm39)	G87S	probably damaging	Het
Golga3	T	C	5: 110,357,744 (GRCm39)	L1080P	probably damaging	Het
Gpr137	T	C	19: 6,915,812 (GRCm39)	T281A	probably benign	Het
Grap2	T	A	15: 80,532,612 (GRCm39)		probably null	Het
Hlcs	T	C	16: 94,069,151 (GRCm39)	D170G	probably damaging	Het
Hook1	A	G	4: 95,901,493 (GRCm39)	T484A	probably benign	Het
Hoxa5	T	A	6: 52,180,771 (GRCm39)	H187L	probably benign	Het
Inpp1	G	T	1: 52,829,253 (GRCm39)	S255R	probably benign	Het
Inpp4b	T	A	8: 82,494,786 (GRCm39)	V67E	probably damaging	Het
Iqgap3	A	G	3: 87,994,616 (GRCm39)	N105S	probably damaging	Het
Kcnq5	A	G	1: 21,539,692 (GRCm39)		probably null	Het
Klhl1	T	C	14: 96,477,649 (GRCm39)	N473S	probably benign	Het
Klk1b24	C	A	7: 43,840,785 (GRCm39)	T71N	probably benign	Het
Loxhd1	A	G	18: 77,468,269 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,001,071 (GRCm39)	R2165Q	probably benign	Het
Lrp2bp	A	T	8: 46,478,272 (GRCm39)	Q328L	possibly damaging	Het
Lrrc63	T	A	14: 75,344,829 (GRCm39)	K419N	possibly damaging	Het
Lrrc9	A	G	12: 72,547,533 (GRCm39)	N150S	probably benign	Het
Lrrn4	C	A	2: 132,713,995 (GRCm39)	C317F	probably damaging	Het
Ltbp2	T	C	12: 84,860,074 (GRCm39)	S627G	probably damaging	Het
Macf1	A	T	4: 123,386,947 (GRCm39)	S1224T	probably damaging	Het
Meis2	A	C	2: 115,889,151 (GRCm39)	H200Q	probably benign	Het
Mesd	C	A	7: 83,544,790 (GRCm39)	A80E	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Myo3a	T	C	2: 22,467,939 (GRCm39)	F398L	probably benign	Het
Nanp	A	G	2: 150,872,749 (GRCm39)	C60R	probably benign	Het
Nectin2	T	G	7: 19,464,041 (GRCm39)	M313L	probably benign	Het
Nek4	C	T	14: 30,678,844 (GRCm39)	H123Y	probably damaging	Het
Nploc4	A	G	11: 120,299,607 (GRCm39)	V371A	probably damaging	Het
Or11g7	A	G	14: 50,690,634 (GRCm39)	T42A	possibly damaging	Het
Or13c7b	A	G	4: 43,820,723 (GRCm39)	F213L	probably benign	Het
Or52n4	T	C	7: 104,294,153 (GRCm39)	N140S	probably benign	Het
Or5b109	T	A	19: 13,212,265 (GRCm39)	V217E	possibly damaging	Het
Pcdh20	T	A	14: 88,706,673 (GRCm39)	Q209L	probably benign	Het
Pcdhb20	G	A	18: 37,637,750 (GRCm39)	R92H	probably damaging	Het
Pgap1	T	C	1: 54,567,714 (GRCm39)	H377R	probably benign	Het
Phyhipl	G	T	10: 70,406,798 (GRCm39)	P52Q	probably damaging	Het
Pwwp2a	T	A	11: 43,596,383 (GRCm39)	V516E	possibly damaging	Het
Rack1	T	C	11: 48,692,586 (GRCm39)	V69A	probably damaging	Het
Rexo5	T	A	7: 119,400,581 (GRCm39)		probably null	Het
Rock1	G	T	18: 10,072,863 (GRCm39)	Q1161K	possibly damaging	Het
Rps6ka2	T	C	17: 7,560,266 (GRCm39)	L568P	probably damaging	Het
Seh1l	T	C	18: 67,917,054 (GRCm39)	S78P	probably damaging	Het
Serpinb3b	A	T	1: 107,083,573 (GRCm39)		probably null	Het
Setd1a	T	C	7: 127,387,512 (GRCm39)		probably benign	Het
Setx	G	T	2: 29,030,401 (GRCm39)		probably null	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Shc2	G	T	10: 79,467,136 (GRCm39)	R146S	probably damaging	Het
Skap2	T	C	6: 51,886,348 (GRCm39)	T5A	probably benign	Het
Slc35a3	T	C	3: 116,480,983 (GRCm39)	I93M	probably benign	Het
Sohlh1	C	T	2: 25,733,359 (GRCm39)	G295D	probably damaging	Het
Sult2a8	A	C	7: 14,150,208 (GRCm39)	C168G	probably benign	Het
Tbc1d4	T	C	14: 101,685,124 (GRCm39)	I1176V	possibly damaging	Het
Thada	A	T	17: 84,744,104 (GRCm39)	F735I	possibly damaging	Het
Tle1	A	C	4: 72,058,068 (GRCm39)	H52Q	probably damaging	Het
Tmem101	A	T	11: 102,044,155 (GRCm39)	V244E	probably damaging	Het
Tnfrsf26	C	A	7: 143,171,668 (GRCm39)	C95F	probably damaging	Het
Uspl1	T	C	5: 149,150,842 (GRCm39)	S482P	probably benign	Het
Vmn2r118	G	T	17: 55,917,935 (GRCm39)	N192K	probably benign	Het
Vmn2r14	C	T	5: 109,368,195 (GRCm39)	V266I	possibly damaging	Het
Vmn2r51	A	G	7: 9,834,249 (GRCm39)	I263T	probably damaging	Het
Zfp937	T	A	2: 150,080,967 (GRCm39)	C332*	probably null	Het
Zscan21	T	A	5: 138,123,470 (GRCm39)	S50T	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
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'- ACCTAACAACACTGGAAGTGAAAGGTC -3'
(R):5'- AGCTGAAGCAAGCTGTCCTTAAAGAG -3'

Sequencing Primer
(F):5'- CTTGAGTGACTTGAATTCTCCTG -3'
(R):5'- CTGTCCTTAAAGAGAAGGAAAAGAGC -3'

Posted On

2017-12-01