Incidental Mutation 'IGL03080:Ephb4'
ID417843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ephb4
Ensembl Gene ENSMUSG00000029710
Gene NameEph receptor B4
SynonymsMDK2, Htk, Myk1, Tyro11
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03080
Quality Score
Status
Chromosome5
Chromosomal Location137350109-137378669 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 137354083 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061244] [ENSMUST00000111054] [ENSMUST00000111055] [ENSMUST00000144296] [ENSMUST00000166239]
Predicted Effect probably benign
Transcript: ENSMUST00000061244
SMART Domains Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000111054
SMART Domains Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000111055
SMART Domains Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000144296
SMART Domains Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000166239
SMART Domains Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710

DomainStartEndE-ValueType
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T C 10: 82,283,982 D428G probably damaging Het
Abce1 T C 8: 79,703,001 probably null Het
Adgrf3 T C 5: 30,196,829 M734V probably benign Het
Aqp8 T G 7: 123,466,579 probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cntn4 A G 6: 106,655,539 D508G probably damaging Het
Cyp11b1 A T 15: 74,839,436 probably null Het
Dnah8 A G 17: 30,719,006 D1619G probably benign Het
Ffar3 A T 7: 30,855,322 V191E probably damaging Het
Galnt1 T A 18: 24,269,517 D310E probably damaging Het
Gm2075 A T 12: 88,011,845 probably benign Het
Igf2r T C 17: 12,726,676 Y342C probably benign Het
Jade1 T A 3: 41,600,075 C251* probably null Het
Jhy T C 9: 40,944,357 E278G probably damaging Het
Kif24 A C 4: 41,394,417 S819A probably benign Het
Lrp8 T C 4: 107,855,799 L344P probably damaging Het
Lrrc27 A G 7: 139,230,237 T375A probably benign Het
Mbd3 C T 10: 80,393,251 R204Q probably damaging Het
Nab2 T C 10: 127,664,794 N143S possibly damaging Het
Nkiras2 T C 11: 100,624,279 probably null Het
Olfr868 A T 9: 20,101,409 I217F probably damaging Het
Palm C A 10: 79,819,117 H74Q probably damaging Het
Pros1 T A 16: 62,918,143 N408K probably damaging Het
Psg23 T A 7: 18,606,985 Y448F probably damaging Het
Ranbp2 C A 10: 58,476,791 P1111Q probably benign Het
Rims2 A G 15: 39,535,903 S1115G probably damaging Het
Scn7a T C 2: 66,697,816 T777A probably benign Het
Stard3nl A T 13: 19,370,478 probably null Het
Sult1d1 T C 5: 87,556,988 D214G probably benign Het
Tmprss12 T C 15: 100,292,648 W300R probably damaging Het
Tmprss2 T C 16: 97,596,844 Y44C probably damaging Het
Ttk A G 9: 83,843,083 N154D probably damaging Het
Tyw1 T C 5: 130,267,055 Y108H probably damaging Het
Vmn2r44 C A 7: 8,383,245 probably benign Het
Zcchc11 T A 4: 108,505,824 S444R probably damaging Het
Zfand1 A G 3: 10,340,737 *269Q probably null Het
Zfp142 A T 1: 74,571,209 D1039E probably benign Het
Zkscan5 G T 5: 145,218,650 S377I probably damaging Het
Other mutations in Ephb4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
X0026:Ephb4 UTSW 5 137373558 missense probably damaging 1.00
Z1177:Ephb4 UTSW 5 137361359 missense probably benign 0.02
Posted On2016-08-02