Incidental Mutation 'IGL01969:Epha10'
ID181618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epha10
Ensembl Gene ENSMUSG00000028876
Gene NameEph receptor A10
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01969
Quality Score
Status
Chromosome4
Chromosomal Location124880899-124917800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 124885877 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 172 (K172T)
Ref Sequence ENSEMBL: ENSMUSP00000050810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059343]
Predicted Effect probably damaging
Transcript: ENSMUST00000059343
AA Change: K172T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050810
Gene: ENSMUSG00000028876
AA Change: K172T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EPH_lbd 35 211 2.5e-109 SMART
low complexity region 219 232 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000149146
AA Change: K26T
SMART Domains Protein: ENSMUSP00000118801
Gene: ENSMUSG00000028876
AA Change: K26T

DomainStartEndE-ValueType
Pfam:Ephrin_lbd 1 66 2.2e-25 PFAM
low complexity region 74 87 N/A INTRINSIC
FN3 193 290 6.54e-6 SMART
FN3 306 392 1.66e-7 SMART
Pfam:EphA2_TM 421 496 2.4e-15 PFAM
TyrKc 499 754 5.17e-90 SMART
SAM 784 851 1.2e-15 SMART
low complexity region 852 862 N/A INTRINSIC
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, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 C A 8: 123,480,431 P74H probably damaging Het
Aire T A 10: 78,042,982 D77V probably damaging Het
Ank2 T A 3: 126,953,223 H571L possibly damaging Het
Apol10b T C 15: 77,588,685 probably null Het
Cacna2d2 A T 9: 107,509,216 M181L probably benign Het
Ccnl1 T C 3: 65,948,487 probably benign Het
Chd9 A G 8: 91,033,510 E1961G possibly damaging Het
Dnajc12 C A 10: 63,395,830 H42N probably damaging Het
Eml4 T C 17: 83,445,980 V248A possibly damaging Het
Fat1 T C 8: 44,952,599 Y796H probably damaging Het
Gpr176 A C 2: 118,279,637 F380L probably damaging Het
Guca1a A T 17: 47,400,343 M26K probably damaging Het
Gucy2g T G 19: 55,227,438 M501L probably benign Het
Herc2 T C 7: 56,185,831 probably benign Het
Itgav A G 2: 83,803,283 E1028G probably damaging Het
Itpr1 A G 6: 108,377,691 T179A probably damaging Het
Lpin2 A G 17: 71,231,507 T383A probably benign Het
Midn A G 10: 80,155,259 T325A probably benign Het
Mpdz A G 4: 81,358,724 Y788H probably damaging Het
Muc1 A T 3: 89,232,006 D571V probably damaging Het
Myo3a A T 2: 22,297,688 H316L probably benign Het
Nagpa T C 16: 5,195,889 K362E probably benign Het
Ola1 G A 2: 73,100,146 A266V probably benign Het
Olfr1256 A G 2: 89,835,720 I75T probably benign Het
Olfr1447 C A 19: 12,901,052 A243S possibly damaging Het
Olfr393 T C 11: 73,847,609 N172S possibly damaging Het
Otof A G 5: 30,382,483 probably benign Het
Pi4ka A C 16: 17,378,483 V105G probably benign Het
Plppr4 G T 3: 117,328,359 T190K probably damaging Het
Pnpla3 G A 15: 84,179,224 A268T probably benign Het
Ppp6r2 C T 15: 89,275,510 H467Y probably damaging Het
Prkd2 C T 7: 16,865,757 T715M probably damaging Het
Rusc2 A G 4: 43,415,738 N348S probably benign Het
Ska3 A G 14: 57,811,662 V284A probably benign Het
Slc23a1 A T 18: 35,624,754 V199D possibly damaging Het
Slc6a13 T C 6: 121,335,642 L445P probably damaging Het
Smo A T 6: 29,755,172 probably null Het
Tmem131 A G 1: 36,825,460 L564S possibly damaging Het
Ttc23l G A 15: 10,551,434 Q69* probably null Het
Other mutations in Epha10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1319:Epha10 UTSW 4 124881914 missense probably benign
R1544:Epha10 UTSW 4 124885596 missense probably damaging 1.00
R4504:Epha10 UTSW 4 124915687 unclassified probably benign
R4505:Epha10 UTSW 4 124915687 unclassified probably benign
R4507:Epha10 UTSW 4 124915687 unclassified probably benign
R4572:Epha10 UTSW 4 124902568 missense unknown
R4605:Epha10 UTSW 4 124885757 missense probably damaging 1.00
R4818:Epha10 UTSW 4 124886214 critical splice donor site probably null
R5037:Epha10 UTSW 4 124915385 unclassified probably benign
R5281:Epha10 UTSW 4 124913988 unclassified probably benign
R5319:Epha10 UTSW 4 124914000 unclassified probably benign
R5322:Epha10 UTSW 4 124885748 missense probably damaging 1.00
R5400:Epha10 UTSW 4 124914121 unclassified probably benign
R5681:Epha10 UTSW 4 124902566 missense unknown
R5694:Epha10 UTSW 4 124902653 missense unknown
R6813:Epha10 UTSW 4 124902693 missense
R7471:Epha10 UTSW 4 124902572 missense
R7699:Epha10 UTSW 4 124902647 missense
R7732:Epha10 UTSW 4 124915299 missense
R7735:Epha10 UTSW 4 124913679 missense
R7793:Epha10 UTSW 4 124914453 missense probably benign 0.00
R7899:Epha10 UTSW 4 124914835 missense
R8057:Epha10 UTSW 4 124902683 missense
R8142:Epha10 UTSW 4 124885846 missense probably damaging 0.99
X0026:Epha10 UTSW 4 124885547 missense probably damaging 1.00
Z1176:Epha10 UTSW 4 124883942 missense probably damaging 1.00
Z1176:Epha10 UTSW 4 124885775 missense probably damaging 1.00
Z1177:Epha10 UTSW 4 124881960 missense probably damaging 0.96
Posted On2014-05-07