Incidental Mutation 'IGL00966:Ephb3'
ID 306617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ephb3
Ensembl Gene ENSMUSG00000005958
Gene Name Eph receptor B3
Synonyms Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL00966
Quality Score
Status
Chromosome 16
Chromosomal Location 21023530-21042054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 21036044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 57 (T57P)
Ref Sequence ENSEMBL: ENSMUSP00000124375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006112] [ENSMUST00000161063] [ENSMUST00000231316] [ENSMUST00000232407]
AlphaFold P54754
Predicted Effect probably benign
Transcript: ENSMUST00000006112
AA Change: T311P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: T311P

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
EPH_lbd 31 204 6.47e-126 SMART
Pfam:GCC2_GCC3 269 312 5.8e-9 PFAM
FN3 332 430 8.43e-9 SMART
FN3 448 527 2.72e-12 SMART
Pfam:EphA2_TM 555 625 1e-24 PFAM
TyrKc 628 887 1.35e-134 SMART
SAM 917 984 3.88e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160053
Predicted Effect probably benign
Transcript: ENSMUST00000161063
AA Change: T57P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000231316
Predicted Effect probably benign
Transcript: ENSMUST00000232407
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 two 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. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in corpus callosum formation and impaired Paneth cell downward migration in the intestinal epithelium, resulting in scattered positioning along crypt and villus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Ephb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Ephb3 APN 16 21,039,165 (GRCm39) splice site probably null
IGL02166:Ephb3 APN 16 21,039,499 (GRCm39) missense probably damaging 1.00
IGL02245:Ephb3 APN 16 21,040,174 (GRCm39) missense probably benign 0.04
IGL02321:Ephb3 APN 16 21,033,139 (GRCm39) missense probably damaging 1.00
IGL02337:Ephb3 APN 16 21,040,253 (GRCm39) splice site probably null
IGL02507:Ephb3 APN 16 21,039,389 (GRCm39) splice site probably benign
IGL02755:Ephb3 APN 16 21,040,448 (GRCm39) missense probably damaging 1.00
IGL02806:Ephb3 APN 16 21,041,031 (GRCm39) missense probably benign 0.02
PIT4362001:Ephb3 UTSW 16 21,039,607 (GRCm39) missense probably damaging 1.00
R0026:Ephb3 UTSW 16 21,033,667 (GRCm39) missense probably damaging 1.00
R0194:Ephb3 UTSW 16 21,036,859 (GRCm39) missense probably benign 0.01
R0196:Ephb3 UTSW 16 21,036,804 (GRCm39) missense probably damaging 1.00
R0230:Ephb3 UTSW 16 21,039,525 (GRCm39) missense probably damaging 1.00
R0828:Ephb3 UTSW 16 21,037,784 (GRCm39) unclassified probably benign
R1126:Ephb3 UTSW 16 21,041,226 (GRCm39) missense possibly damaging 0.87
R1460:Ephb3 UTSW 16 21,037,672 (GRCm39) missense probably benign
R1592:Ephb3 UTSW 16 21,040,450 (GRCm39) missense probably damaging 1.00
R1632:Ephb3 UTSW 16 21,031,687 (GRCm39) missense probably benign 0.00
R1694:Ephb3 UTSW 16 21,040,495 (GRCm39) missense probably damaging 1.00
R1719:Ephb3 UTSW 16 21,039,400 (GRCm39) missense probably damaging 1.00
R1777:Ephb3 UTSW 16 21,035,985 (GRCm39) missense probably damaging 0.99
R1928:Ephb3 UTSW 16 21,041,045 (GRCm39) missense possibly damaging 0.86
R1956:Ephb3 UTSW 16 21,040,132 (GRCm39) missense probably damaging 1.00
R2378:Ephb3 UTSW 16 21,036,993 (GRCm39) missense probably benign
R3408:Ephb3 UTSW 16 21,038,254 (GRCm39) missense probably damaging 0.99
R4027:Ephb3 UTSW 16 21,040,447 (GRCm39) missense probably damaging 1.00
R4429:Ephb3 UTSW 16 21,033,213 (GRCm39) missense probably damaging 1.00
R4655:Ephb3 UTSW 16 21,040,958 (GRCm39) missense probably damaging 0.98
R4826:Ephb3 UTSW 16 21,033,745 (GRCm39) missense possibly damaging 0.90
R4828:Ephb3 UTSW 16 21,033,745 (GRCm39) missense possibly damaging 0.90
R4960:Ephb3 UTSW 16 21,039,245 (GRCm39) missense probably benign 0.09
R5057:Ephb3 UTSW 16 21,039,197 (GRCm39) missense probably damaging 1.00
R5090:Ephb3 UTSW 16 21,033,237 (GRCm39) missense probably damaging 1.00
R5396:Ephb3 UTSW 16 21,037,855 (GRCm39) missense possibly damaging 0.91
R5540:Ephb3 UTSW 16 21,039,610 (GRCm39) missense probably damaging 1.00
R5628:Ephb3 UTSW 16 21,036,869 (GRCm39) missense probably damaging 1.00
R5666:Ephb3 UTSW 16 21,041,241 (GRCm39) missense probably benign 0.08
R5838:Ephb3 UTSW 16 21,040,437 (GRCm39) missense probably damaging 1.00
R5866:Ephb3 UTSW 16 21,030,129 (GRCm39) intron probably benign
R6017:Ephb3 UTSW 16 21,040,781 (GRCm39) missense probably damaging 1.00
R6020:Ephb3 UTSW 16 21,040,763 (GRCm39) missense probably damaging 0.99
R6510:Ephb3 UTSW 16 21,036,861 (GRCm39) missense probably damaging 0.98
R6539:Ephb3 UTSW 16 21,040,218 (GRCm39) missense probably benign
R6591:Ephb3 UTSW 16 21,033,223 (GRCm39) missense probably damaging 1.00
R6691:Ephb3 UTSW 16 21,033,223 (GRCm39) missense probably damaging 1.00
R7101:Ephb3 UTSW 16 21,037,268 (GRCm39) missense possibly damaging 0.86
R7111:Ephb3 UTSW 16 21,037,577 (GRCm39) nonsense probably null
R7236:Ephb3 UTSW 16 21,033,231 (GRCm39) missense probably damaging 1.00
R7307:Ephb3 UTSW 16 21,040,976 (GRCm39) missense probably benign 0.04
R7410:Ephb3 UTSW 16 21,040,158 (GRCm39) missense possibly damaging 0.75
R7413:Ephb3 UTSW 16 21,033,457 (GRCm39) missense probably damaging 1.00
R7452:Ephb3 UTSW 16 21,036,107 (GRCm39) splice site probably null
R7944:Ephb3 UTSW 16 21,040,434 (GRCm39) missense probably damaging 1.00
R7945:Ephb3 UTSW 16 21,040,434 (GRCm39) missense probably damaging 1.00
R9092:Ephb3 UTSW 16 21,041,214 (GRCm39) missense probably benign 0.01
R9504:Ephb3 UTSW 16 21,036,830 (GRCm39) missense possibly damaging 0.48
R9706:Ephb3 UTSW 16 21,039,193 (GRCm39) missense probably damaging 1.00
Z1176:Ephb3 UTSW 16 21,036,786 (GRCm39) missense possibly damaging 0.53
Posted On 2015-04-16