Incidental Mutation 'R6798:Epha6'
ID 533144
Institutional Source Beutler Lab
Gene Symbol Epha6
Ensembl Gene ENSMUSG00000055540
Gene Name Eph receptor A6
Synonyms Ehk2, m-ehk2, Hek12
MMRRC Submission 044911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6798 (G1)
Quality Score 143.008
Status Validated
Chromosome 16
Chromosomal Location 59473846-60425894 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 60425427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 62 (E62A)
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: E62A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: E62A

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 0.0663 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency 97% (73/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,782,364 (GRCm39) Y916H probably damaging Het
Adam11 A G 11: 102,667,834 (GRCm39) I740V probably damaging Het
Adam22 A T 5: 8,210,784 (GRCm39) D161E probably damaging Het
Agap3 A G 5: 24,703,280 (GRCm39) probably null Het
Ank2 T C 3: 126,737,913 (GRCm39) probably benign Het
Aspm T A 1: 139,396,423 (GRCm39) H867Q possibly damaging Het
Aurkaip1 T C 4: 155,917,196 (GRCm39) probably null Het
BC048507 A C 13: 68,011,683 (GRCm39) D20A probably benign Het
Cacna1a G A 8: 85,338,231 (GRCm39) A1704T probably damaging Het
Cep152 A C 2: 125,408,447 (GRCm39) probably null Het
Cep19 T C 16: 31,922,867 (GRCm39) probably null Het
Cfhr4 T C 1: 139,625,859 (GRCm39) T813A probably benign Het
Chd9 A T 8: 91,778,182 (GRCm39) E2731V possibly damaging Het
Chrd T C 16: 20,553,056 (GRCm39) L139P probably damaging Het
Cit A G 5: 116,064,585 (GRCm39) E489G possibly damaging Het
Clcn7 A G 17: 25,378,734 (GRCm39) N720D probably damaging Het
Col6a3 T C 1: 90,722,731 (GRCm39) probably null Het
Dchs2 T A 3: 83,255,593 (GRCm39) Y2430N probably damaging Het
Dpy30 A G 17: 74,614,751 (GRCm39) I64T probably damaging Het
Eif2b3 G T 4: 116,923,655 (GRCm39) W290L probably benign Het
Epha8 C T 4: 136,672,980 (GRCm39) R268Q probably benign Het
Fbxw17 C A 13: 50,587,300 (GRCm39) probably null Het
Fndc8 C T 11: 82,783,217 (GRCm39) T66I probably benign Het
Frmpd1 A G 4: 45,284,850 (GRCm39) T1224A probably benign Het
Gcm2 T C 13: 41,259,361 (GRCm39) D36G probably damaging Het
Glt28d2 T C 3: 85,779,296 (GRCm39) D59G probably benign Het
Gorasp1 T C 9: 119,758,663 (GRCm39) D243G probably benign Het
Gtsf1l T C 2: 162,929,391 (GRCm39) K31E probably benign Het
Heatr5a A G 12: 51,928,048 (GRCm39) V1816A probably benign Het
Il10ra T C 9: 45,167,730 (GRCm39) K274E probably damaging Het
Il1rl2 T C 1: 40,404,400 (GRCm39) I507T probably damaging Het
Jak3 T G 8: 72,133,615 (GRCm39) F408V probably damaging Het
Kdm1b A G 13: 47,222,012 (GRCm39) T484A probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Map9 T G 3: 82,287,471 (GRCm39) L31W probably damaging Het
Mical2 T C 7: 111,975,266 (GRCm39) probably benign Het
Mt1 A G 8: 94,906,516 (GRCm39) probably benign Het
Myo18b T C 5: 112,909,252 (GRCm39) I1964V probably damaging Het
Nalf1 G A 8: 9,820,205 (GRCm39) Q272* probably null Het
Nod1 A T 6: 54,921,596 (GRCm39) C241S probably damaging Het
Nrxn1 T A 17: 90,937,378 (GRCm39) D685V probably damaging Het
Oog1 A T 12: 87,655,609 (GRCm39) probably null Het
Or11a4 T G 17: 37,536,697 (GRCm39) L227R probably damaging Het
Or2ag13 T C 7: 106,313,402 (GRCm39) Y162C probably damaging Het
Or4k2 A G 14: 50,424,584 (GRCm39) V30A probably benign Het
Or56b1b T A 7: 108,164,967 (GRCm39) K12* probably null Het
P4htm T A 9: 108,460,117 (GRCm39) N219I possibly damaging Het
Pcif1 T C 2: 164,727,711 (GRCm39) L168P possibly damaging Het
Pde4dip A G 3: 97,795,850 (GRCm39) V46A probably benign Het
Pias1 T C 9: 62,799,451 (GRCm39) T480A probably benign Het
Prkd2 A T 7: 16,583,128 (GRCm39) K297* probably null Het
Prl7d1 T A 13: 27,893,380 (GRCm39) probably null Het
Pxdc1 G T 13: 34,836,408 (GRCm39) A4E possibly damaging Het
Rcor1 A G 12: 111,006,320 (GRCm39) probably benign Het
Rev3l A T 10: 39,730,759 (GRCm39) D2761V probably damaging Het
Scgb1b7 A G 7: 31,412,406 (GRCm39) T61A probably damaging Het
Sec14l2 A G 11: 4,061,213 (GRCm39) Y83H probably damaging Het
Setd4 C A 16: 93,386,841 (GRCm39) V286F probably damaging Het
Slc22a29 A G 19: 8,137,968 (GRCm39) S536P probably benign Het
Snx25 T C 8: 46,486,810 (GRCm39) H977R probably damaging Het
Spint5 T A 2: 164,559,060 (GRCm39) C95* probably null Het
Sprr5 G C 3: 92,440,243 (GRCm39) C65W unknown Het
Srgap1 T C 10: 121,761,809 (GRCm39) D113G probably damaging Het
Stxbp2 T A 8: 3,691,180 (GRCm39) S476T probably benign Het
Tg A G 15: 66,550,688 (GRCm39) T273A probably damaging Het
Tnc C T 4: 63,883,841 (GRCm39) R1868H probably benign Het
Trappc10 A G 10: 78,024,665 (GRCm39) Y1155H probably benign Het
Trpm2 T A 10: 77,750,574 (GRCm39) N1341Y probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfand1 T G 3: 10,411,236 (GRCm39) K67T probably benign Het
Zfand4 A C 6: 116,305,214 (GRCm39) K214Q probably benign Het
Zfp653 A T 9: 21,968,668 (GRCm39) V465E probably damaging Het
Zswim8 A G 14: 20,766,060 (GRCm39) Y782C 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
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
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'- CTTACCTTGGTTGGAGACGTGAC -3'
(R):5'- ACGGTGGTGGATGCAATTCC -3'

Sequencing Primer
(F):5'- TGGAGACGTGACTGCAGTC -3'
(R):5'- TGGTGGATGCAATTCCCCTCG -3'
Posted On 2018-08-29