Incidental Mutation 'IGL01655:Epha6'
ID 332107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epha6
Ensembl Gene ENSMUSG00000055540
Gene Name Eph receptor A6
Synonyms m-ehk2, Hek12, Ehk2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01655
Quality Score
Status
Chromosome 16
Chromosomal Location 59653483-60605531 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 59839303 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 817 (N817K)
Ref Sequence ENSEMBL: ENSMUSP00000066734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068860] [ENSMUST00000161358]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068860
AA Change: N817K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: N817K

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: ENSMUST00000161358
SMART Domains Protein: ENSMUSP00000124340
Gene: ENSMUSG00000055540

DomainStartEndE-ValueType
Pfam:EphA2_TM 9 88 1.2e-26 PFAM
Pfam:Pkinase_Tyr 91 183 3e-18 PFAM
Pfam:Pkinase 91 296 1.5e-29 PFAM
Pfam:Pkinase_Tyr 179 295 6e-31 PFAM
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 G A 3: 97,165,972 probably null Het
Aida T A 1: 183,313,683 Y104* probably null Het
Cd300lg T C 11: 102,047,075 S244P probably benign Het
Ces4a T A 8: 105,147,174 L425Q probably damaging Het
Chrnb3 T C 8: 27,394,174 V298A probably damaging Het
Cnot6 A C 11: 49,677,304 F486C probably damaging Het
Ctnna3 A G 10: 64,873,170 T663A probably benign Het
Cyp2j12 T A 4: 96,115,577 K267N possibly damaging Het
Dclre1a A T 19: 56,547,057 Y32N probably damaging Het
Ddx21 A G 10: 62,587,491 I644T probably damaging Het
Ercc6l2 T A 13: 63,819,752 Y55* probably null Het
Esyt1 A G 10: 128,522,312 I183T possibly damaging Het
Exoc8 T C 8: 124,896,228 T467A probably benign Het
Fance T C 17: 28,322,779 probably benign Het
Fbxo46 C T 7: 19,136,310 R285W probably damaging Het
Ffar2 A T 7: 30,819,587 V176E probably damaging Het
Fnbp1l T C 3: 122,568,749 probably null Het
Gm10288 T C 3: 146,838,810 noncoding transcript Het
Gm12588 T A 11: 121,907,951 Het
Gm9755 G A 8: 67,515,233 noncoding transcript Het
Gpr33 A T 12: 52,023,560 M232K probably damaging Het
Haus5 A T 7: 30,663,294 probably benign Het
Ilvbl A G 10: 78,577,333 probably benign Het
Kifap3 G A 1: 163,796,049 probably benign Het
Klhl26 T C 8: 70,451,883 Y378C probably damaging Het
Lama4 G A 10: 39,060,213 S628N probably benign Het
Lamc3 G A 2: 31,898,278 R150H probably damaging Het
Mrgprx2 A T 7: 48,482,691 C126* probably null Het
Myo3a A T 2: 22,423,326 D798V probably damaging Het
Ndufs1 A T 1: 63,151,557 L44Q probably damaging Het
Nfrkb G T 9: 31,403,459 R525L probably benign Het
Olfr1124 T A 2: 87,434,885 C133S probably damaging Het
Olfr1134 A G 2: 87,656,429 F164S probably damaging Het
Olfr1287 T C 2: 111,449,889 F250L probably benign Het
Olfr1370 T C 13: 21,072,905 Y132C probably damaging Het
Olfr146 T A 9: 39,018,918 I208F probably benign Het
Olfr394 T C 11: 73,887,927 I148M probably benign Het
Olfr458 T C 6: 42,460,540 T160A probably benign Het
Olfr735 A G 14: 50,346,184 M86T probably benign Het
Olfr824 G T 10: 130,126,991 T22K probably benign Het
Pias4 T C 10: 81,155,658 K352E probably benign Het
Pkhd1 G A 1: 20,534,633 Q1153* probably null Het
Pon1 C A 6: 5,175,760 W254C probably damaging Het
Prr14 A G 7: 127,475,767 T447A probably benign Het
Serpinb9g T A 13: 33,495,105 C319* probably null Het
Slc9c1 A T 16: 45,582,972 M801L probably benign Het
Tenm4 C T 7: 96,553,724 T182M probably damaging Het
Ubr4 T A 4: 139,407,796 L813Q probably damaging Het
Uimc1 T C 13: 55,028,704 E667G probably benign Het
Unc79 A G 12: 103,168,287 T2173A probably benign Het
Unkl T C 17: 25,210,848 S142P probably benign Het
Vezt A G 10: 93,996,997 V204A probably benign Het
Vps53 A T 11: 76,063,034 I402N probably damaging Het
Zfyve9 T C 4: 108,642,092 D1343G probably damaging Het
Other mutations in Epha6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Epha6 APN 16 59915962 missense probably damaging 1.00
IGL00849:Epha6 APN 16 60425111 missense possibly damaging 0.89
IGL00898:Epha6 APN 16 59775541 critical splice donor site probably null
IGL01353:Epha6 APN 16 60424895 missense probably damaging 1.00
IGL01409:Epha6 APN 16 59655737 nonsense probably null
IGL01577:Epha6 APN 16 59956926 missense possibly damaging 0.57
IGL01653:Epha6 APN 16 59839303 missense probably benign 0.05
IGL01654:Epha6 APN 16 59839303 missense probably benign 0.05
IGL01657:Epha6 APN 16 59839303 missense probably benign 0.05
IGL01663:Epha6 APN 16 59775644 missense probably damaging 1.00
IGL01899:Epha6 APN 16 59839303 missense probably benign 0.05
IGL02272:Epha6 APN 16 59818937 missense probably damaging 1.00
IGL03265:Epha6 APN 16 60060231 splice site probably benign
IGL03333:Epha6 APN 16 59682688 missense probably damaging 1.00
rauwulfia UTSW 16 59682616 missense probably damaging 1.00
PIT4377001:Epha6 UTSW 16 60205552 missense probably damaging 0.98
R0505:Epha6 UTSW 16 60205732 missense possibly damaging 0.89
R1593:Epha6 UTSW 16 60424904 missense probably damaging 1.00
R1764:Epha6 UTSW 16 59775728 missense probably null 1.00
R1836:Epha6 UTSW 16 60205745 missense probably damaging 1.00
R2061:Epha6 UTSW 16 59655797 missense probably damaging 1.00
R2125:Epha6 UTSW 16 59682688 missense probably damaging 1.00
R2867:Epha6 UTSW 16 59960296 splice site probably null
R2867:Epha6 UTSW 16 59960296 splice site probably null
R3760:Epha6 UTSW 16 60220984 missense possibly damaging 0.70
R4305:Epha6 UTSW 16 60526520 splice site probably null
R4613:Epha6 UTSW 16 59666597 missense possibly damaging 0.80
R4818:Epha6 UTSW 16 59654063 missense probably damaging 0.99
R4832:Epha6 UTSW 16 59960413 missense probably damaging 0.98
R4895:Epha6 UTSW 16 59666555 missense probably benign 0.08
R5014:Epha6 UTSW 16 59666579 missense probably benign 0.00
R5316:Epha6 UTSW 16 59954720 missense probably damaging 0.99
R5403:Epha6 UTSW 16 59775570 missense probably damaging 1.00
R5417:Epha6 UTSW 16 60424835 missense possibly damaging 0.89
R5418:Epha6 UTSW 16 60424835 missense possibly damaging 0.89
R5678:Epha6 UTSW 16 59818979 missense probably damaging 1.00
R5775:Epha6 UTSW 16 59818994 missense possibly damaging 0.92
R5808:Epha6 UTSW 16 59682742 missense probably damaging 1.00
R6076:Epha6 UTSW 16 60205710 missense probably damaging 1.00
R6146:Epha6 UTSW 16 60424835 missense possibly damaging 0.89
R6212:Epha6 UTSW 16 60425356 missense possibly damaging 0.77
R6242:Epha6 UTSW 16 59682662 missense probably damaging 1.00
R6503:Epha6 UTSW 16 60205621 missense possibly damaging 0.61
R6580:Epha6 UTSW 16 59682616 missense probably damaging 1.00
R6726:Epha6 UTSW 16 60424835 missense possibly damaging 0.89
R6728:Epha6 UTSW 16 60424835 missense possibly damaging 0.89
R6798:Epha6 UTSW 16 60605064 missense possibly damaging 0.53
R6798:Epha6 UTSW 16 60605065 missense possibly damaging 0.53
R6903:Epha6 UTSW 16 60526462 missense probably benign 0.00
R6999:Epha6 UTSW 16 60425170 missense possibly damaging 0.94
R7058:Epha6 UTSW 16 59682650 missense probably damaging 1.00
R7109:Epha6 UTSW 16 59682668 missense probably damaging 1.00
R7263:Epha6 UTSW 16 59775665 missense probably damaging 1.00
R7296:Epha6 UTSW 16 59915838 missense probably benign 0.00
R7343:Epha6 UTSW 16 59960430 missense probably damaging 0.98
R7443:Epha6 UTSW 16 59775625 missense possibly damaging 0.93
R7533:Epha6 UTSW 16 60205562 missense probably damaging 1.00
R7602:Epha6 UTSW 16 59775568 missense probably damaging 1.00
R7604:Epha6 UTSW 16 60205772 missense possibly damaging 0.89
R8321:Epha6 UTSW 16 59915954 missense probably damaging 1.00
R8414:Epha6 UTSW 16 60005667 missense probably damaging 1.00
R8794:Epha6 UTSW 16 60205672 missense probably benign 0.00
R8926:Epha6 UTSW 16 59839299 missense probably benign 0.11
R9166:Epha6 UTSW 16 60604875 missense probably benign 0.00
R9265:Epha6 UTSW 16 59655754 missense probably damaging 1.00
R9322:Epha6 UTSW 16 60424755 missense probably damaging 1.00
Z1188:Epha6 UTSW 16 59654090 missense probably damaging 1.00
Z1189:Epha6 UTSW 16 59654090 missense probably damaging 1.00
Posted On 2015-08-05