Incidental Mutation 'IGL02971:Eea1'
ID 365803
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 # IGL02971
Quality Score
Status
Chromosome 10
Chromosomal Location 95776525-95881380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95877389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1368 (T1368A)
Ref Sequence ENSEMBL: ENSMUSP00000061493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053484]
AlphaFold Q8BL66
Predicted Effect probably benign
Transcript: ENSMUST00000053484
AA Change: T1368A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: T1368A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Guca2b A G 4: 119,514,885 (GRCm39) S59P probably damaging Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Mapkapk3 A T 9: 107,134,279 (GRCm39) D328E probably benign Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Npffr1 T C 10: 61,449,918 (GRCm39) V64A probably damaging Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or2t49 A G 11: 58,393,211 (GRCm39) L57P probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pcca A G 14: 123,126,945 (GRCm39) D718G probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Rtraf A T 14: 19,866,260 (GRCm39) M152K possibly damaging Het
Satb1 T C 17: 52,049,717 (GRCm39) D579G possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
St8sia2 C T 7: 73,616,559 (GRCm39) V139M probably damaging Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Tmem220 A G 11: 66,924,933 (GRCm39) probably null Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K 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
IGL02229:Eea1 APN 10 95,854,046 (GRCm39) missense probably damaging 1.00
IGL02885:Eea1 APN 10 95,877,346 (GRCm39) missense probably benign 0.04
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 2015-12-18