Incidental Mutation 'R6580:Epha6'
ID 524115
Institutional Source Beutler Lab
Gene Symbol Epha6
Ensembl Gene ENSMUSG00000055540
Gene Name Eph receptor A6
Synonyms Ehk2, m-ehk2, Hek12
MMRRC Submission 044704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6580 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 59473846-60425894 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 59502979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 976 (N976T)
Ref Sequence ENSEMBL: ENSMUSP00000066734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068860]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000068860
AA Change: N976T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: N976T

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
Meta Mutation Damage Score 0.1514 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 97% (32/33)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,386 (GRCm39) R525H probably benign Het
Acox3 T A 5: 35,765,747 (GRCm39) L600Q probably damaging Het
Ankrd49 A G 9: 14,692,694 (GRCm39) S157P probably damaging Het
Ccdc141 A G 2: 76,842,099 (GRCm39) F1444S possibly damaging Het
Cimap2 G T 4: 106,468,711 (GRCm39) H271N possibly damaging Het
Defb28 C T 2: 152,360,215 (GRCm39) S10L possibly damaging Het
Gm45861 A G 8: 28,034,979 (GRCm39) K976E unknown Het
Gtf2ird1 T G 5: 134,389,893 (GRCm39) N920H probably damaging Het
Gtf3c1 A T 7: 125,243,519 (GRCm39) M1695K probably benign Het
Hfm1 C T 5: 106,995,575 (GRCm39) E1279K probably benign Het
Il31ra C T 13: 112,688,476 (GRCm39) D34N possibly damaging Het
Klhl3 T A 13: 58,166,701 (GRCm39) I430F possibly damaging Het
Mfhas1 A G 8: 36,056,419 (GRCm39) Y298C probably damaging Het
Muc20 A T 16: 32,613,859 (GRCm39) M506K possibly damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Naip1 T A 13: 100,581,157 (GRCm39) D30V probably damaging Het
Nol9 A G 4: 152,136,218 (GRCm39) N430S probably benign Het
Or8b44 T C 9: 38,410,319 (GRCm39) M118T probably damaging Het
Palm3 A G 8: 84,756,177 (GRCm39) E563G probably damaging Het
Pcdhga4 A G 18: 37,820,370 (GRCm39) S640G possibly damaging Het
Pi4ka A G 16: 17,168,694 (GRCm39) F679L probably damaging Het
Pierce1 A G 2: 28,356,062 (GRCm39) W74R probably damaging Het
Polr3c A G 3: 96,634,659 (GRCm39) probably null Het
Ptdss2 T A 7: 140,732,925 (GRCm39) I236N probably damaging Het
Rapgef1 A G 2: 29,620,621 (GRCm39) Y879C possibly damaging Het
Shc3 T C 13: 51,596,809 (GRCm39) T405A probably benign Het
Smtnl2 G T 11: 72,293,859 (GRCm39) S232R probably benign Het
Taar8a G A 10: 23,952,791 (GRCm39) A132T probably damaging Het
Tex47 T C 5: 7,355,212 (GRCm39) I131T probably damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r63 A G 7: 5,805,913 (GRCm39) S240P probably benign Het
Vmn2r130 T C 17: 23,282,740 (GRCm39) V140A probably benign Het
Vmn2r84 A G 10: 130,225,110 (GRCm39) W467R possibly damaging Het
Zscan12 T C 13: 21,553,328 (GRCm39) L384P probably 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
R5417:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
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
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'- AGGTAAGATGTGTGCCCAGC -3'
(R):5'- CCTGTGTCTTAATATACTTGGGAAC -3'

Sequencing Primer
(F):5'- ATGTGTGCCCAGCATGGAAC -3'
(R):5'- AAAGTTCTCCTCAGCCAG -3'
Posted On 2018-06-22