Incidental Mutation 'IGL01645:Eea1'
ID 102636
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 # IGL01645
Quality Score
Status
Chromosome 10
Chromosomal Location 95776525-95881380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95825451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 49 (S49T)
Ref Sequence ENSEMBL: ENSMUSP00000061493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053484] [ENSMUST00000218291] [ENSMUST00000218517]
AlphaFold Q8BL66
Predicted Effect probably damaging
Transcript: ENSMUST00000053484
AA Change: S49T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: S49T

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
Predicted Effect probably damaging
Transcript: ENSMUST00000218517
AA Change: S49T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C T 7: 45,764,477 (GRCm39) C1156Y possibly damaging Het
Armh4 T C 14: 50,011,011 (GRCm39) E232G probably damaging Het
Atp8b1 G A 18: 64,679,184 (GRCm39) H766Y probably benign Het
Cacna2d1 C A 5: 16,217,389 (GRCm39) probably null Het
Card11 T A 5: 140,863,778 (GRCm39) T987S probably benign Het
Dennd2b T A 7: 109,126,841 (GRCm39) K540* probably null Het
Dmxl2 A T 9: 54,286,017 (GRCm39) Y2723N possibly damaging Het
Dnah11 T A 12: 118,150,733 (GRCm39) I342F possibly damaging Het
Dnajc10 A G 2: 80,170,871 (GRCm39) H454R possibly damaging Het
Dpy19l3 T C 7: 35,394,763 (GRCm39) T592A probably benign Het
Esd T A 14: 74,987,159 (GRCm39) N294K probably benign Het
Fmo3 A G 1: 162,791,575 (GRCm39) V234A possibly damaging Het
Folh1 A G 7: 86,391,435 (GRCm39) F420L probably damaging Het
Gabra1 T C 11: 42,026,389 (GRCm39) N301S probably damaging Het
Gm5422 A T 10: 31,126,069 (GRCm39) noncoding transcript Het
Gorab A T 1: 163,214,000 (GRCm39) L310Q possibly damaging Het
Gsdme A G 6: 50,228,316 (GRCm39) Y51H probably damaging Het
Hrob T C 11: 102,146,012 (GRCm39) L96P probably damaging Het
Itpr1 T C 6: 108,450,560 (GRCm39) I1964T possibly damaging Het
Lmbr1 A G 5: 29,440,053 (GRCm39) L410P probably damaging Het
Lrrc37a T C 11: 103,395,090 (GRCm39) R112G probably benign Het
Mrgpra6 T C 7: 46,835,681 (GRCm39) T247A probably benign Het
Mroh4 A G 15: 74,483,207 (GRCm39) probably benign Het
Mycbpap T C 11: 94,394,293 (GRCm39) probably null Het
Myoz2 T A 3: 122,827,881 (GRCm39) K12N probably damaging Het
Odad2 T C 18: 7,268,491 (GRCm39) S343G probably benign Het
Or1d2 T C 11: 74,256,359 (GRCm39) I288T possibly damaging Het
P3h1 T G 4: 119,093,980 (GRCm39) F212V probably damaging Het
Pcnx2 T C 8: 126,614,656 (GRCm39) D265G probably damaging Het
Pkd1l3 C T 8: 110,361,934 (GRCm39) T992I possibly damaging Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Pth2 T A 7: 44,830,764 (GRCm39) L29Q possibly damaging Het
Rab1b A C 19: 5,154,962 (GRCm39) probably benign Het
Rasa2 A T 9: 96,464,834 (GRCm39) C190* probably null Het
Scn9a T C 2: 66,317,986 (GRCm39) K1501E possibly damaging Het
Selenoi A G 5: 30,462,821 (GRCm39) probably benign Het
Slc11a2 T C 15: 100,286,999 (GRCm39) N558S probably benign Het
Sox10 T C 15: 79,040,539 (GRCm39) I173V probably benign Het
Sra1 A C 18: 36,804,526 (GRCm39) F476C probably damaging Het
Tmem119 T A 5: 113,933,409 (GRCm39) K131* probably null Het
Trim12c T A 7: 103,994,261 (GRCm39) K198* probably null Het
Ttn A G 2: 76,681,904 (GRCm39) probably benign Het
Unc119b C T 5: 115,265,371 (GRCm39) V154I probably benign Het
Usp47 T A 7: 111,654,069 (GRCm39) S108R probably damaging Het
Vmn1r15 T A 6: 57,235,547 (GRCm39) C138* probably null Het
Vmn1r191 T C 13: 22,363,614 (GRCm39) I47V probably benign Het
Wnt3 C T 11: 103,703,204 (GRCm39) A229V probably benign Het
Other mutations in Eea1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Eea1 APN 10 95,867,539 (GRCm39) missense probably damaging 0.99
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
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 2014-01-21