Incidental Mutation 'IGL02229:Eea1'
ID 285433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eea1
Ensembl Gene ENSMUSG00000036499
Gene Name early endosome antigen 1
Synonyms ZFYVE2, A430109M19Rik, B230358H09Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.293) question?
Stock # IGL02229
Quality Score
Status
Chromosome 10
Chromosomal Location 95776525-95881380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95854046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 568 (E568V)
Ref Sequence ENSEMBL: ENSMUSP00000061493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053484] [ENSMUST00000218291]
AlphaFold Q8BL66
Predicted Effect probably damaging
Transcript: ENSMUST00000053484
AA Change: E568V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: E568V

DomainStartEndE-ValueType
ZnF_C2H2 41 64 2.2e-2 SMART
low complexity region 98 123 N/A INTRINSIC
low complexity region 135 148 N/A INTRINSIC
low complexity region 389 408 N/A INTRINSIC
low complexity region 480 500 N/A INTRINSIC
low complexity region 573 585 N/A INTRINSIC
low complexity region 616 630 N/A INTRINSIC
low complexity region 645 660 N/A INTRINSIC
low complexity region 748 760 N/A INTRINSIC
low complexity region 909 924 N/A INTRINSIC
low complexity region 947 958 N/A INTRINSIC
low complexity region 996 1010 N/A INTRINSIC
low complexity region 1165 1176 N/A INTRINSIC
low complexity region 1198 1217 N/A INTRINSIC
FYVE 1344 1411 1.99e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218088
Predicted Effect probably benign
Transcript: ENSMUST00000218291
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in Eea1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Eea1 APN 10 95,867,539 (GRCm39) missense probably damaging 0.99
IGL01645:Eea1 APN 10 95,825,451 (GRCm39) missense probably damaging 1.00
IGL01646:Eea1 APN 10 95,832,877 (GRCm39) missense probably damaging 0.99
IGL01870:Eea1 APN 10 95,809,848 (GRCm39) missense probably damaging 1.00
IGL02074:Eea1 APN 10 95,873,349 (GRCm39) missense probably damaging 1.00
IGL02885:Eea1 APN 10 95,877,346 (GRCm39) missense probably benign 0.04
IGL02971:Eea1 APN 10 95,877,389 (GRCm39) missense probably benign 0.37
IGL03223:Eea1 APN 10 95,875,473 (GRCm39) missense probably damaging 1.00
IGL03355:Eea1 APN 10 95,878,074 (GRCm39) utr 3 prime probably benign
prom UTSW 10 95,831,432 (GRCm39) missense probably benign 0.02
R4876_eea1_897 UTSW 10 95,831,475 (GRCm39) missense probably benign 0.07
Senior UTSW 10 95,846,899 (GRCm39) missense probably benign
Slump UTSW 10 95,872,495 (GRCm39) missense probably benign 0.00
R0189:Eea1 UTSW 10 95,831,444 (GRCm39) missense possibly damaging 0.86
R0374:Eea1 UTSW 10 95,875,634 (GRCm39) splice site probably benign
R0655:Eea1 UTSW 10 95,831,460 (GRCm39) missense probably benign 0.00
R0883:Eea1 UTSW 10 95,857,529 (GRCm39) missense possibly damaging 0.63
R1219:Eea1 UTSW 10 95,846,623 (GRCm39) splice site probably benign
R1344:Eea1 UTSW 10 95,830,861 (GRCm39) critical splice donor site probably null
R1768:Eea1 UTSW 10 95,832,822 (GRCm39) missense probably damaging 1.00
R1887:Eea1 UTSW 10 95,854,073 (GRCm39) critical splice donor site probably null
R2224:Eea1 UTSW 10 95,855,874 (GRCm39) missense probably damaging 0.99
R2927:Eea1 UTSW 10 95,849,220 (GRCm39) missense probably benign 0.00
R3922:Eea1 UTSW 10 95,872,495 (GRCm39) missense probably benign 0.00
R3950:Eea1 UTSW 10 95,877,996 (GRCm39) missense probably damaging 1.00
R4502:Eea1 UTSW 10 95,875,427 (GRCm39) missense probably benign 0.14
R4647:Eea1 UTSW 10 95,864,255 (GRCm39) missense probably benign
R4876:Eea1 UTSW 10 95,831,475 (GRCm39) missense probably benign 0.07
R5009:Eea1 UTSW 10 95,846,883 (GRCm39) missense probably benign
R5018:Eea1 UTSW 10 95,846,899 (GRCm39) missense probably benign
R5490:Eea1 UTSW 10 95,861,916 (GRCm39) missense probably benign 0.41
R5588:Eea1 UTSW 10 95,859,772 (GRCm39) missense probably benign 0.01
R5791:Eea1 UTSW 10 95,855,857 (GRCm39) missense probably benign 0.24
R5799:Eea1 UTSW 10 95,838,810 (GRCm39) missense possibly damaging 0.81
R5842:Eea1 UTSW 10 95,853,986 (GRCm39) missense probably damaging 1.00
R6332:Eea1 UTSW 10 95,877,335 (GRCm39) missense possibly damaging 0.79
R6376:Eea1 UTSW 10 95,874,660 (GRCm39) missense probably benign 0.01
R6468:Eea1 UTSW 10 95,864,274 (GRCm39) missense probably benign 0.14
R6740:Eea1 UTSW 10 95,859,855 (GRCm39) missense probably benign
R6889:Eea1 UTSW 10 95,873,340 (GRCm39) missense probably benign 0.14
R6904:Eea1 UTSW 10 95,838,741 (GRCm39) splice site probably null
R7269:Eea1 UTSW 10 95,854,000 (GRCm39) missense probably damaging 1.00
R7273:Eea1 UTSW 10 95,825,493 (GRCm39) missense probably benign 0.00
R7398:Eea1 UTSW 10 95,831,493 (GRCm39) missense probably benign
R7400:Eea1 UTSW 10 95,831,432 (GRCm39) missense probably benign 0.02
R7537:Eea1 UTSW 10 95,830,767 (GRCm39) nonsense probably null
R7687:Eea1 UTSW 10 95,862,460 (GRCm39) missense probably benign
R7762:Eea1 UTSW 10 95,864,301 (GRCm39) missense probably benign 0.10
R8097:Eea1 UTSW 10 95,862,516 (GRCm39) missense probably benign 0.01
R8114:Eea1 UTSW 10 95,830,851 (GRCm39) nonsense probably null
R8803:Eea1 UTSW 10 95,859,853 (GRCm39) missense probably benign 0.13
R8853:Eea1 UTSW 10 95,857,517 (GRCm39) missense
R8856:Eea1 UTSW 10 95,831,506 (GRCm39) missense probably benign 0.04
R8901:Eea1 UTSW 10 95,825,431 (GRCm39) missense probably damaging 1.00
R8907:Eea1 UTSW 10 95,826,274 (GRCm39) missense probably damaging 1.00
R8944:Eea1 UTSW 10 95,832,822 (GRCm39) missense probably damaging 1.00
R8960:Eea1 UTSW 10 95,864,381 (GRCm39) missense probably benign 0.00
R8966:Eea1 UTSW 10 95,832,901 (GRCm39) missense probably damaging 0.96
R8983:Eea1 UTSW 10 95,855,741 (GRCm39) nonsense probably null
R9069:Eea1 UTSW 10 95,831,510 (GRCm39) missense probably damaging 0.99
R9240:Eea1 UTSW 10 95,776,824 (GRCm39) missense probably benign 0.00
R9287:Eea1 UTSW 10 95,831,445 (GRCm39) missense probably damaging 1.00
R9661:Eea1 UTSW 10 95,862,742 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16