Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02089:Ephb4'

279369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ephb4

Ensembl Gene

ENSMUSG00000029710

Gene Name

Eph receptor B4

Synonyms

MDK2, Htk, Myk1, Tyro11

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02089

Quality Score

Status

Chromosome

Chromosomal Location

137350109-137378669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137370762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 805 (K805E)

Ref Sequence

ENSEMBL: ENSMUSP00000106684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061244] [ENSMUST00000111054] [ENSMUST00000111055] [ENSMUST00000144296] [ENSMUST00000166239]

AlphaFold

P54761

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061244
AA Change: K796E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: K796E

Domain	Start	End	E-Value	Type
EPH_lbd	17	197	6.3e-106	SMART
Pfam:GCC2_GCC3	258	301	2.6e-11	PFAM
FN3	324	413	1.75e-6	SMART
FN3	434	516	1.07e-10	SMART
Pfam:EphA2_TM	540	612	8.9e-26	PFAM
TyrKc	615	874	5.09e-130	SMART
SAM	904	971	2.44e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111054
AA Change: K796E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: K796E

Domain	Start	End	E-Value	Type
EPH_lbd	17	197	6.3e-106	SMART
Pfam:GCC2_GCC3	258	301	1.4e-11	PFAM
FN3	324	413	1.75e-6	SMART
FN3	434	516	1.07e-10	SMART
Pfam:EphA2_TM	540	612	3.4e-26	PFAM
TyrKc	615	874	5.09e-130	SMART
Pfam:SAM_1	882	917	2.6e-7	PFAM
low complexity region	919	934	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111055
AA Change: K805E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: K805E

Domain	Start	End	E-Value	Type
EPH_lbd	17	197	6.3e-106	SMART
Pfam:GCC2_GCC3	258	301	4.2e-10	PFAM
FN3	324	413	1.75e-6	SMART
FN3	443	525	1.07e-10	SMART
Pfam:EphA2_TM	550	621	5e-24	PFAM
TyrKc	624	883	5.09e-130	SMART
SAM	913	980	2.44e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144296
AA Change: K796E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: K796E

Domain	Start	End	E-Value	Type
EPH_lbd	17	197	6.3e-106	SMART
Pfam:GCC2_GCC3	258	301	2.6e-11	PFAM
FN3	324	413	1.75e-6	SMART
FN3	434	516	1.07e-10	SMART
Pfam:EphA2_TM	540	612	8.9e-26	PFAM
TyrKc	615	874	5.09e-130	SMART
SAM	904	971	2.44e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166239
AA Change: K796E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: K796E

Domain	Start	End	E-Value	Type
EPH_lbd	17	197	6.3e-106	SMART
Pfam:GCC2_GCC3	258	301	2.6e-11	PFAM
FN3	324	413	1.75e-6	SMART
FN3	434	516	1.07e-10	SMART
Pfam:EphA2_TM	540	612	8.9e-26	PFAM
TyrKc	615	874	5.09e-130	SMART
SAM	904	971	2.44e-21	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit arrested angiogenesis and heart development and midgestational lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330160F10Rik	C	T	11: 69,060,187		silent	Het
Adck1	G	T	12: 88,446,710	V271F	probably damaging	Het
Aggf1	T	C	13: 95,370,929	D116G	probably benign	Het
Anapc1	A	T	2: 128,663,933	V661E	probably damaging	Het
Apoa5	T	C	9: 46,269,139		probably null	Het
Atp8a2	C	T	14: 60,026,920		probably null	Het
Bnipl	A	T	3: 95,250,266		probably benign	Het
Cbs	T	G	17: 31,615,545	D490A	probably benign	Het
Chrdl1	G	T	X: 143,303,514	H199N	possibly damaging	Het
D3Ertd254e	T	C	3: 36,164,728	F300S	possibly damaging	Het
Dcaf1	C	T	9: 106,863,111	T1232I	probably benign	Het
Ddx19b	T	C	8: 111,008,845		probably benign	Het
Ergic3	A	G	2: 156,010,475	N135D	probably benign	Het
Fbxw18	C	T	9: 109,701,322	V74I	probably benign	Het
Fmo4	G	T	1: 162,799,080	T299N	probably benign	Het
Gmeb1	T	C	4: 132,225,836	K540E	probably damaging	Het
H60c	T	A	10: 3,259,826	S154C	possibly damaging	Het
Herc1	T	C	9: 66,480,869	L3812S	probably damaging	Het
Hipk3	T	C	2: 104,431,379	D937G	probably damaging	Het
Ift122	A	G	6: 115,925,437	D1079G	probably benign	Het
Il6st	T	C	13: 112,495,240	W438R	probably benign	Het
Lypla2	C	T	4: 135,969,621	V117I	probably benign	Het
Mapk8ip1	T	C	2: 92,385,875	Y516C	probably damaging	Het
Mmp24	G	A	2: 155,812,293	G397D	probably damaging	Het
Muc4	G	A	16: 32,751,313	S397N	possibly damaging	Het
Muc5b	T	G	7: 141,863,250	V3311G	probably benign	Het
Naca	A	G	10: 128,036,489		probably benign	Het
Nrxn1	A	G	17: 91,088,401	V109A	probably benign	Het
Nup210	T	G	6: 91,076,698	D279A	probably benign	Het
Olfr1097	A	G	2: 86,891,116	S20P	possibly damaging	Het
Olfr981	A	T	9: 40,022,770	I126F	probably damaging	Het
Pappa	T	A	4: 65,156,124	V305E	possibly damaging	Het
Pcdh19	A	T	X: 133,588,496	M977K	probably benign	Het
Pdzph1	T	A	17: 58,967,339	I837F	possibly damaging	Het
Phip	A	T	9: 82,871,319	L1791M	probably damaging	Het
Pkdrej	C	T	15: 85,816,288	V1816I	possibly damaging	Het
Ptprz1	G	A	6: 23,033,448	V1063M	probably damaging	Het
Qprt	A	T	7: 127,108,356	M220K	probably damaging	Het
R3hcc1	T	C	14: 69,700,026	K391E	possibly damaging	Het
Rbbp7	C	A	X: 162,771,056	P162Q	probably benign	Het
Rev3l	A	T	10: 39,825,099	N1864I	probably damaging	Het
Rims1	A	G	1: 22,630,475	I84T	possibly damaging	Het
Rnase2b	A	T	14: 51,162,783	K107I	probably benign	Het
Sbf1	C	A	15: 89,302,505	E864*	probably null	Het
Strip2	G	A	6: 29,917,180		probably benign	Het
Stx4a	T	C	7: 127,848,398	I238T	probably damaging	Het
Tbc1d2b	C	T	9: 90,222,359	V577I	possibly damaging	Het
Tex38	T	C	4: 115,780,394	T71A	possibly damaging	Het
Usp38	T	C	8: 80,985,714	E564G	possibly damaging	Het
Vmn2r72	A	T	7: 85,738,166	V730E	probably benign	Het
Wwp2	T	A	8: 107,554,057	L644Q	probably damaging	Het
Zpld1	A	G	16: 55,251,611	I95T	probably benign	Het

Other mutations in Ephb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Ephb4	APN	5	137365615	splice site	probably benign
IGL00948:Ephb4	APN	5	137366659	missense	probably damaging	1.00
IGL01653:Ephb4	APN	5	137365741	splice site	probably benign
IGL01885:Ephb4	APN	5	137357797	missense	probably damaging	1.00
IGL01906:Ephb4	APN	5	137361194	missense	probably damaging	1.00
IGL02216:Ephb4	APN	5	137372070	missense	possibly damaging	0.92
IGL02233:Ephb4	APN	5	137354501	nonsense	probably null
IGL03080:Ephb4	APN	5	137354083	splice site	probably benign
IGL03111:Ephb4	APN	5	137372505	missense	probably benign	0.07
R0599:Ephb4	UTSW	5	137369855	missense	probably damaging	1.00
R0744:Ephb4	UTSW	5	137365667	missense	probably damaging	1.00
R1331:Ephb4	UTSW	5	137366534	splice site	probably benign
R1441:Ephb4	UTSW	5	137361247	missense	probably damaging	1.00
R1732:Ephb4	UTSW	5	137372178	missense	possibly damaging	0.93
R1745:Ephb4	UTSW	5	137360434	missense	probably benign
R1831:Ephb4	UTSW	5	137354415	missense	probably damaging	1.00
R1865:Ephb4	UTSW	5	137363310	missense	possibly damaging	0.53
R2165:Ephb4	UTSW	5	137354426	missense	probably benign	0.08
R2206:Ephb4	UTSW	5	137357719	missense	probably damaging	1.00
R2473:Ephb4	UTSW	5	137365700	missense	probably benign	0.15
R4779:Ephb4	UTSW	5	137365702	missense	probably benign	0.04
R4801:Ephb4	UTSW	5	137365506	missense	probably damaging	1.00
R4802:Ephb4	UTSW	5	137365506	missense	probably damaging	1.00
R5307:Ephb4	UTSW	5	137363312	missense	probably damaging	1.00
R5452:Ephb4	UTSW	5	137361142	missense	probably damaging	1.00
R5458:Ephb4	UTSW	5	137369852	missense	probably damaging	1.00
R5475:Ephb4	UTSW	5	137354439	missense	probably benign	0.00
R5662:Ephb4	UTSW	5	137372195	missense	probably damaging	0.98
R5879:Ephb4	UTSW	5	137360416	missense	probably benign	0.00
R6336:Ephb4	UTSW	5	137372085	missense	probably damaging	1.00
R6443:Ephb4	UTSW	5	137360449	missense	probably damaging	1.00
R6632:Ephb4	UTSW	5	137366587	missense	probably damaging	0.99
R6973:Ephb4	UTSW	5	137369804	missense	probably damaging	1.00
R7008:Ephb4	UTSW	5	137361274	missense	probably benign	0.00
R7145:Ephb4	UTSW	5	137372046	missense	probably damaging	1.00
R7421:Ephb4	UTSW	5	137354425	missense	possibly damaging	0.88
R7593:Ephb4	UTSW	5	137361298	missense	probably benign
R7635:Ephb4	UTSW	5	137372103	missense	probably damaging	1.00
R7751:Ephb4	UTSW	5	137365675	missense	probably damaging	1.00
R7825:Ephb4	UTSW	5	137372437	missense	probably damaging	1.00
R8539:Ephb4	UTSW	5	137357855	missense	probably damaging	1.00
R8904:Ephb4	UTSW	5	137370805	missense	probably damaging	1.00
R9228:Ephb4	UTSW	5	137354562	missense	possibly damaging	0.79
R9327:Ephb4	UTSW	5	137363267	missense	probably damaging	0.99
R9513:Ephb4	UTSW	5	137363302	missense	possibly damaging	0.76
R9659:Ephb4	UTSW	5	137365481	missense	probably damaging	1.00
R9788:Ephb4	UTSW	5	137365481	missense	probably damaging	1.00
X0026:Ephb4	UTSW	5	137373558	missense	probably damaging	1.00
Z1177:Ephb4	UTSW	5	137361359	missense	probably benign	0.02

Posted On

2015-04-16