Incidental Mutation 'IGL01375:Ephb6'
ID 78704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ephb6
Ensembl Gene ENSMUSG00000029869
Gene Name Eph receptor B6
Synonyms Cekl, Mep
Accession Numbers
Essential gene? Possibly essential (E-score: 0.659) question?
Stock # IGL01375
Quality Score
Status
Chromosome 6
Chromosomal Location 41582416-41597443 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 41592845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031902] [ENSMUST00000114732]
AlphaFold O08644
Predicted Effect probably benign
Transcript: ENSMUST00000031902
SMART Domains Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000114732
SMART Domains Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 C T 9: 69,390,301 (GRCm39) R68* probably null Het
Apc C T 18: 34,446,707 (GRCm39) S1167L probably damaging Het
Aqp2 A G 15: 99,479,983 (GRCm39) T149A possibly damaging Het
Asb8 T C 15: 98,039,190 (GRCm39) E70G probably damaging Het
Carmil1 T C 13: 24,278,454 (GRCm39) I172V possibly damaging Het
Cd38 A G 5: 44,060,939 (GRCm39) M172V probably benign Het
Dync2i1 G T 12: 116,193,296 (GRCm39) A552E possibly damaging Het
Dyrk2 A G 10: 118,696,592 (GRCm39) V222A probably damaging Het
Fbxo15 T C 18: 84,976,404 (GRCm39) S48P possibly damaging Het
Gsdma3 T C 11: 98,520,767 (GRCm39) probably null Het
H2bl1 A G 13: 99,120,650 (GRCm39) probably benign Het
Htr1d A G 4: 136,170,484 (GRCm39) T238A probably benign Het
Kcnh3 G A 15: 99,124,874 (GRCm39) W108* probably null Het
Kdsr A T 1: 106,655,424 (GRCm39) Y272N probably benign Het
Lrp2 A G 2: 69,308,910 (GRCm39) probably benign Het
Nup210l G A 3: 90,067,200 (GRCm39) V747M probably damaging Het
Or10g3 A G 14: 52,609,865 (GRCm39) I215T probably damaging Het
Or4a67 A G 2: 88,597,810 (GRCm39) V283A probably benign Het
Pfn3 T A 13: 55,562,641 (GRCm39) R113S possibly damaging Het
Pik3r4 T C 9: 105,521,803 (GRCm39) I123T possibly damaging Het
Plec A T 15: 76,060,640 (GRCm39) I3121N probably damaging Het
Prepl C T 17: 85,379,419 (GRCm39) G336D possibly damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Prps1l1 A G 12: 35,035,631 (GRCm39) T249A possibly damaging Het
Rptor T A 11: 119,787,262 (GRCm39) F1276I possibly damaging Het
Serpina3f G A 12: 104,186,735 (GRCm39) V434I unknown Het
Slc25a12 T C 2: 71,138,394 (GRCm39) probably benign Het
Slc4a4 T C 5: 89,327,593 (GRCm39) C642R probably damaging Het
Slit2 C T 5: 48,439,056 (GRCm39) probably benign Het
Tasor A G 14: 27,162,120 (GRCm39) R159G probably damaging Het
Tgfbr3 A G 5: 107,284,837 (GRCm39) V604A probably benign Het
Tnfrsf1b T C 4: 144,951,986 (GRCm39) Y126C probably damaging Het
Traf4 T C 11: 78,050,908 (GRCm39) N416S probably benign Het
Trappc10 A G 10: 78,024,733 (GRCm39) I1132T possibly damaging Het
Vps8 T A 16: 21,378,122 (GRCm39) Y642* probably null Het
Other mutations in Ephb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-05