Mutagenetix > Incidental Mutation

Incidental Mutation 'R9788:Ephb4'

734439

Institutional Source

Beutler Lab

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 #

R9788 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137350109-137378669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 137365481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 583 (Y583D)

Ref Sequence

ENSEMBL: ENSMUSP00000106684 (fasta)

Gene Model

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

AlphaFold

P54761

Predicted Effect

probably damaging
Transcript: ENSMUST00000061244
AA Change: Y574D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: Y574D

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

probably damaging
Transcript: ENSMUST00000111054
AA Change: Y574D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: Y574D

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: Y583D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: Y583D

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

probably damaging
Transcript: ENSMUST00000144296
AA Change: Y574D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: Y574D

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

probably damaging
Transcript: ENSMUST00000166239
AA Change: Y574D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: Y574D

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

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,469,981	T387I	possibly damaging	Het
Abca5	A	T	11: 110,301,427	M753K	probably damaging	Het
Adcy7	A	G	8: 88,319,105	T572A	probably benign	Het
Bmp8b	A	G	4: 123,105,576	M76V	probably damaging	Het
C2cd2	A	G	16: 97,922,273	S15P	possibly damaging	Het
Cfh	T	C	1: 140,108,761	I702V	probably benign	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Cntln	G	A	4: 85,049,856	V771M	probably damaging	Het
Ear2	A	G	14: 44,103,248	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,165,599	C369Y	possibly damaging	Het
Gabra2	T	C	5: 71,034,797	D63G	probably benign	Het
Gfra1	A	G	19: 58,453,220	M93T	probably damaging	Het
Gm3604	A	T	13: 62,371,910	H10Q	possibly damaging	Het
Gtf2b	AATCATC	AATC	3: 142,771,417		probably benign	Het
Herc1	A	C	9: 66,399,903	I1002L	probably benign	Het
Hmcn1	T	C	1: 150,652,582	I3272V	probably benign	Het
Izumo3	A	G	4: 92,146,800	I60T	probably benign	Het
Jakmip2	T	A	18: 43,571,862	N358I	probably damaging	Het
Klra9	T	A	6: 130,182,422	K209N	possibly damaging	Het
Ldah	A	T	12: 8,283,946	Y279F	possibly damaging	Het
Lrrcc1	T	A	3: 14,537,226	H126Q	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mipep	A	G	14: 60,846,444	T595A	probably damaging	Het
Mms22l	A	G	4: 24,586,204	T859A	probably benign	Het
Mogat1	A	G	1: 78,522,705	M39V	probably benign	Het
Muc6	T	C	7: 141,645,833	D968G	probably damaging	Het
Nab1	T	C	1: 52,490,007	K244E	possibly damaging	Het
Nr1h4	A	G	10: 89,478,776		probably null	Het
Nxph1	A	G	6: 9,247,418	T130A	probably damaging	Het
Obscn	A	G	11: 59,078,852	V2426A	possibly damaging	Het
Olfr1406	C	T	1: 173,183,891	R181H	probably benign	Het
Olfr323	T	A	11: 58,625,866	Y60F	probably benign	Het
Olfr391-ps	T	C	11: 73,798,942	T272A	probably benign	Het
Olfr481	T	C	7: 108,081,538	V248A	probably damaging	Het
Olfr734	A	G	14: 50,320,724	F37S	probably benign	Het
Olfr935	A	G	9: 38,995,000	V145A	possibly damaging	Het
Osbpl3	A	G	6: 50,347,364		probably null	Het
Otop3	T	A	11: 115,344,261	C259S	unknown	Het
Pcsk5	A	G	19: 17,477,881	Y1062H	probably benign	Het
Phf21a	T	C	2: 92,351,633		probably null	Het
Plch1	T	C	3: 63,773,715	I164V	probably benign	Het
Plekhh2	T	A	17: 84,547,464	M42K	possibly damaging	Het
Plekhm3	T	C	1: 64,922,263	D278G	possibly damaging	Het
Plod3	A	G	5: 136,991,057	Y447C	probably damaging	Het
Psg16	T	C	7: 17,090,599	S12P	possibly damaging	Het
Ptprq	A	T	10: 107,565,890	C1914S	probably benign	Het
Rai1	A	G	11: 60,187,254	T715A	possibly damaging	Het
Rsad2	G	A	12: 26,450,578	H237Y	probably benign	Het
Sarm1	A	G	11: 78,488,037	L394P	probably damaging	Het
Scube1	A	G	15: 83,651,700	S258P	possibly damaging	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc22a26	G	A	19: 7,786,433	P412S	probably benign	Het
Son	TATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	TATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	16: 91,656,811		probably benign	Het
Synrg	A	T	11: 83,986,955	H342L	probably benign	Het
Tenm3	T	C	8: 48,335,561	Y478C	probably benign	Het
Tlr9	C	T	9: 106,223,807	P99L	probably damaging	Het
Trip4	T	C	9: 65,833,420	E535G	probably benign	Het
Utp20	A	G	10: 88,817,309	L303P	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521	N258D	possibly damaging	Het
Zfp616	G	A	11: 74,084,450	G515D	probably damaging	Het
Zfp786	A	G	6: 47,820,882	L374P	probably benign	Het
Zfp82	C	T	7: 30,056,538	R373H	probably damaging	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
IGL02089:Ephb4	APN	5	137370762	missense	probably damaging	0.98
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
X0026:Ephb4	UTSW	5	137373558	missense	probably damaging	1.00
Z1177:Ephb4	UTSW	5	137361359	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CATCGTAGAGCAAGCCTTCC -3'
(R):5'- TCTTGACATAGGAGACATCGATCTC -3'

Sequencing Primer
(F):5'- GTAGAGCAAGCCTTCCTGTCTTTC -3'
(R):5'- CATAGGAGACATCGATCTCTTTGGC -3'

Posted On

2022-11-14