Incidental Mutation 'IGL01409:Epha6'
ID 79932
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 # IGL01409
Quality Score
Status
Chromosome 16
Chromosomal Location 59653483-60605531 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 59655737 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 1089 (R1089*)
Ref Sequence ENSEMBL: ENSMUSP00000066734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068860]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000068860
AA Change: R1089*
SMART Domains Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: R1089*

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: ENSMUST00000232158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232302
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap26 C T 18: 39,110,451 probably benign Het
Asxl1 T C 2: 153,392,940 probably benign Het
Atm A T 9: 53,499,171 V1037E probably benign Het
Bmp6 A G 13: 38,485,889 N383S probably damaging Het
Btbd11 C T 10: 85,658,165 A1049V possibly damaging Het
Btf3l4 A C 4: 108,819,197 S103R probably damaging Het
Cadps2 T C 6: 23,587,441 D321G probably damaging Het
Ccdc144b T A 3: 36,025,928 M227L possibly damaging Het
Col24a1 G A 3: 145,538,564 S1531N probably benign Het
Cpb1 T A 3: 20,249,805 Y365F possibly damaging Het
Dpp6 T C 5: 27,557,601 Y238H probably damaging Het
Fam46c A T 3: 100,473,169 D90E probably damaging Het
Fga T C 3: 83,032,752 F571S probably damaging Het
Focad A G 4: 88,342,305 T933A unknown Het
Gria2 A G 3: 80,707,697 probably null Het
Hnrnpul1 T C 7: 25,724,652 N725S unknown Het
Ik A T 18: 36,756,921 K534N probably damaging Het
Itga8 T C 2: 12,191,714 T631A probably benign Het
Kcnip1 G T 11: 33,630,593 D214E probably benign Het
Kcnk10 A T 12: 98,490,063 Y170N probably damaging Het
Lalba A G 15: 98,482,067 probably null Het
Ly75 A T 2: 60,321,692 probably null Het
Myh10 T C 11: 68,807,219 L1629P probably damaging Het
Myo15b C A 11: 115,869,504 C1127* probably null Het
Neurl4 T G 11: 69,907,099 N728K probably damaging Het
Nrxn3 T A 12: 89,510,358 F801Y probably damaging Het
Nup214 G T 2: 32,026,931 probably null Het
Obscn G A 11: 59,031,058 R6624C probably damaging Het
Olfr123 T C 17: 37,795,522 F26S probably damaging Het
Pdk1 A G 2: 71,895,779 T344A probably benign Het
Pitx2 C A 3: 129,214,764 S63Y probably damaging Het
Ppara A C 15: 85,777,643 L28F probably damaging Het
Rad54l G A 4: 116,105,877 T308I probably damaging Het
Sbds T C 5: 130,254,066 E7G probably damaging Het
Slc22a19 T C 19: 7,711,130 I22V probably benign Het
Slfn10-ps T C 11: 83,035,496 noncoding transcript Het
Spag4 T C 2: 156,069,332 S396P possibly damaging Het
Spef2 C A 15: 9,716,413 L362F probably damaging Het
Srebf2 A G 15: 82,171,218 T208A probably damaging Het
Ssc5d A G 7: 4,942,809 T947A probably benign Het
Tdp1 T C 12: 99,909,681 I297T possibly damaging Het
Tsen2 T C 6: 115,559,594 Y104H possibly damaging Het
Was G A X: 8,087,816 R229C 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
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
IGL01655: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 2013-11-05