Incidental Mutation 'R5417:Epha6'
ID 427808
Institutional Source Beutler Lab
Gene Symbol Epha6
Ensembl Gene ENSMUSG00000055540
Gene Name Eph receptor A6
Synonyms Ehk2, m-ehk2, Hek12
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5417 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 59473846-60425894 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 60245198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 334 (A334S)
Ref Sequence ENSEMBL: ENSMUSP00000066734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068860]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000068860
AA Change: A334S

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: A334S

DomainStartEndE-ValueType
low complexity region 4 37 N/A INTRINSIC
low complexity region 79 90 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
EPH_lbd 128 301 5.95e-125 SMART
Pfam:GCC2_GCC3 361 406 1.6e-8 PFAM
FN3 426 518 5.83e-3 SMART
FN3 537 618 2.19e-7 SMART
Pfam:EphA2_TM 644 722 1.8e-22 PFAM
TyrKc 725 1024 3.66e-122 SMART
SAM 1052 1119 1.24e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159383
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display discrete learning and memory deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A G 15: 76,619,301 (GRCm39) V761A possibly damaging Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cfap65 T C 1: 74,964,259 (GRCm39) E563G probably damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Col17a1 C A 19: 47,650,829 (GRCm39) G732C probably damaging Het
Cped1 A G 6: 22,233,579 (GRCm39) I812V probably null Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,373,755 (GRCm39) probably null Het
Dgkg A T 16: 22,407,081 (GRCm39) M168K possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dolpp1 T C 2: 30,286,249 (GRCm39) L18P probably damaging Het
Eif3e A T 15: 43,128,917 (GRCm39) D234E probably benign Het
Fbxw10 G A 11: 62,767,990 (GRCm39) R942Q possibly damaging Het
Flvcr2 T G 12: 85,793,965 (GRCm39) F114V probably damaging Het
Gm14443 A T 2: 175,011,796 (GRCm39) C217S probably damaging Het
Gphb5 A T 12: 75,459,746 (GRCm39) V83E possibly damaging Het
Gpsm1 T C 2: 26,214,045 (GRCm39) probably null Het
Grik4 A G 9: 42,582,544 (GRCm39) F134S probably benign Het
Ibsp G A 5: 104,458,335 (GRCm39) E291K possibly damaging Het
Igfals T G 17: 25,099,290 (GRCm39) L127R probably damaging Het
Igsf9b CGGCCCCGGCCCAG CGGCCCCGGCCCAGGCCCCGGCCCAG 9: 27,245,572 (GRCm39) probably benign Het
Iqcf3 T A 9: 106,431,413 (GRCm39) D63V probably damaging Het
Klc4 A G 17: 46,942,957 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mapk8ip2 C A 15: 89,341,642 (GRCm39) D284E probably benign Het
Muc5b A T 7: 141,411,781 (GRCm39) T1576S unknown Het
Nlrp3 G A 11: 59,439,889 (GRCm39) G489S probably damaging Het
Nr5a1 T A 2: 38,598,098 (GRCm39) Q233L possibly damaging Het
Nusap1 G A 2: 119,477,624 (GRCm39) V345I probably damaging Het
Or10q1 A G 19: 13,727,217 (GRCm39) H249R probably benign Het
Or4k51 A G 2: 111,585,265 (GRCm39) T224A possibly damaging Het
Or51aa2 A T 7: 103,187,970 (GRCm39) V157E possibly damaging Het
Oxr1 A G 15: 41,683,767 (GRCm39) T378A probably benign Het
Pcdhb12 T C 18: 37,569,087 (GRCm39) F78L probably benign Het
Pgm2l1 A T 7: 99,921,583 (GRCm39) I605L probably benign Het
Pik3c2g A G 6: 139,682,669 (GRCm39) I17V probably benign Het
Prss39 A G 1: 34,539,209 (GRCm39) S150G probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scg3 T A 9: 75,576,538 (GRCm39) Y279F probably benign Het
Skic2 C T 17: 35,065,574 (GRCm39) V327I probably damaging Het
Srfbp1 T C 18: 52,621,697 (GRCm39) C253R probably benign Het
Tcirg1 C T 19: 3,953,509 (GRCm39) probably null Het
Trim37 A G 11: 87,057,505 (GRCm39) Y313C probably damaging Het
Ttll9 A T 2: 152,844,912 (GRCm39) M427L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp5 A G 7: 55,475,409 (GRCm39) R932G possibly damaging Het
Other mutations in Epha6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Epha6 APN 16 59,736,325 (GRCm39) missense probably damaging 1.00
IGL00849:Epha6 APN 16 60,245,474 (GRCm39) missense possibly damaging 0.89
IGL00898:Epha6 APN 16 59,595,904 (GRCm39) critical splice donor site probably null
IGL01353:Epha6 APN 16 60,245,258 (GRCm39) missense probably damaging 1.00
IGL01409:Epha6 APN 16 59,476,100 (GRCm39) nonsense probably null
IGL01577:Epha6 APN 16 59,777,289 (GRCm39) missense possibly damaging 0.57
IGL01653:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL01654:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL01655:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL01657:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL01663:Epha6 APN 16 59,596,007 (GRCm39) missense probably damaging 1.00
IGL01899:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL02272:Epha6 APN 16 59,639,300 (GRCm39) missense probably damaging 1.00
IGL03265:Epha6 APN 16 59,880,594 (GRCm39) splice site probably benign
IGL03333:Epha6 APN 16 59,503,051 (GRCm39) missense probably damaging 1.00
rauwulfia UTSW 16 59,502,979 (GRCm39) missense probably damaging 1.00
PIT4377001:Epha6 UTSW 16 60,025,915 (GRCm39) missense probably damaging 0.98
R0505:Epha6 UTSW 16 60,026,095 (GRCm39) missense possibly damaging 0.89
R1593:Epha6 UTSW 16 60,245,267 (GRCm39) missense probably damaging 1.00
R1764:Epha6 UTSW 16 59,596,091 (GRCm39) missense probably null 1.00
R1836:Epha6 UTSW 16 60,026,108 (GRCm39) missense probably damaging 1.00
R2061:Epha6 UTSW 16 59,476,160 (GRCm39) missense probably damaging 1.00
R2125:Epha6 UTSW 16 59,503,051 (GRCm39) missense probably damaging 1.00
R2867:Epha6 UTSW 16 59,780,659 (GRCm39) splice site probably null
R2867:Epha6 UTSW 16 59,780,659 (GRCm39) splice site probably null
R3760:Epha6 UTSW 16 60,041,347 (GRCm39) missense possibly damaging 0.70
R4305:Epha6 UTSW 16 60,346,883 (GRCm39) splice site probably null
R4613:Epha6 UTSW 16 59,486,960 (GRCm39) missense possibly damaging 0.80
R4818:Epha6 UTSW 16 59,474,426 (GRCm39) missense probably damaging 0.99
R4832:Epha6 UTSW 16 59,780,776 (GRCm39) missense probably damaging 0.98
R4895:Epha6 UTSW 16 59,486,918 (GRCm39) missense probably benign 0.08
R5014:Epha6 UTSW 16 59,486,942 (GRCm39) missense probably benign 0.00
R5316:Epha6 UTSW 16 59,775,083 (GRCm39) missense probably damaging 0.99
R5403:Epha6 UTSW 16 59,595,933 (GRCm39) missense probably damaging 1.00
R5418:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
R5678:Epha6 UTSW 16 59,639,342 (GRCm39) missense probably damaging 1.00
R5775:Epha6 UTSW 16 59,639,357 (GRCm39) missense possibly damaging 0.92
R5808:Epha6 UTSW 16 59,503,105 (GRCm39) missense probably damaging 1.00
R6076:Epha6 UTSW 16 60,026,073 (GRCm39) missense probably damaging 1.00
R6146:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
R6212:Epha6 UTSW 16 60,245,719 (GRCm39) missense possibly damaging 0.77
R6242:Epha6 UTSW 16 59,503,025 (GRCm39) missense probably damaging 1.00
R6503:Epha6 UTSW 16 60,025,984 (GRCm39) missense possibly damaging 0.61
R6580:Epha6 UTSW 16 59,502,979 (GRCm39) missense probably damaging 1.00
R6726:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
R6728:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
R6798:Epha6 UTSW 16 60,425,428 (GRCm39) missense possibly damaging 0.53
R6798:Epha6 UTSW 16 60,425,427 (GRCm39) missense possibly damaging 0.53
R6903:Epha6 UTSW 16 60,346,825 (GRCm39) missense probably benign 0.00
R6999:Epha6 UTSW 16 60,245,533 (GRCm39) missense possibly damaging 0.94
R7058:Epha6 UTSW 16 59,503,013 (GRCm39) missense probably damaging 1.00
R7109:Epha6 UTSW 16 59,503,031 (GRCm39) missense probably damaging 1.00
R7263:Epha6 UTSW 16 59,596,028 (GRCm39) missense probably damaging 1.00
R7296:Epha6 UTSW 16 59,736,201 (GRCm39) missense probably benign 0.00
R7343:Epha6 UTSW 16 59,780,793 (GRCm39) missense probably damaging 0.98
R7443:Epha6 UTSW 16 59,595,988 (GRCm39) missense possibly damaging 0.93
R7533:Epha6 UTSW 16 60,025,925 (GRCm39) missense probably damaging 1.00
R7602:Epha6 UTSW 16 59,595,931 (GRCm39) missense probably damaging 1.00
R7604:Epha6 UTSW 16 60,026,135 (GRCm39) missense possibly damaging 0.89
R8321:Epha6 UTSW 16 59,736,317 (GRCm39) missense probably damaging 1.00
R8414:Epha6 UTSW 16 59,826,030 (GRCm39) missense probably damaging 1.00
R8794:Epha6 UTSW 16 60,026,035 (GRCm39) missense probably benign 0.00
R8926:Epha6 UTSW 16 59,659,662 (GRCm39) missense probably benign 0.11
R9166:Epha6 UTSW 16 60,425,238 (GRCm39) missense probably benign 0.00
R9265:Epha6 UTSW 16 59,476,117 (GRCm39) missense probably damaging 1.00
R9322:Epha6 UTSW 16 60,245,118 (GRCm39) missense probably damaging 1.00
R9442:Epha6 UTSW 16 60,025,850 (GRCm39) missense probably benign 0.26
R9742:Epha6 UTSW 16 60,026,065 (GRCm39) missense probably damaging 1.00
Z1188:Epha6 UTSW 16 59,474,453 (GRCm39) missense probably damaging 1.00
Z1189:Epha6 UTSW 16 59,474,453 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGGAAGCACAGTAGCATC -3'
(R):5'- ACTCAACACTGAAATCCGTGAG -3'

Sequencing Primer
(F):5'- CTTACCATGGCAAGAACC -3'
(R):5'- TGGGGCCTATAGAAAGGAAAGG -3'
Posted On 2016-09-01