Incidental Mutation 'R4502:Eea1'
ID 331865
Institutional Source Beutler Lab
Gene Symbol Eea1
Ensembl Gene ENSMUSG00000036499
Gene Name early endosome antigen 1
Synonyms ZFYVE2, A430109M19Rik, B230358H09Rik
MMRRC Submission 041754-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.293) question?
Stock # R4502 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 95776525-95881380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95875427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1233 (E1233K)
Ref Sequence ENSEMBL: ENSMUSP00000061493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053484]
AlphaFold Q8BL66
Predicted Effect probably benign
Transcript: ENSMUST00000053484
AA Change: E1233K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: E1233K

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b A C 3: 20,369,962 (GRCm39) Y215D probably damaging Het
Arf5 T C 6: 28,425,775 (GRCm39) V123A possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atm A G 9: 53,407,246 (GRCm39) V1164A possibly damaging Het
Atp6v0d1 A G 8: 106,292,430 (GRCm39) C39R probably damaging Het
Bmp8a T A 4: 123,236,192 (GRCm39) S104C probably damaging Het
Cand1 T C 10: 119,052,572 (GRCm39) T185A probably benign Het
Ccdc171 A G 4: 83,782,560 (GRCm39) E1284G probably damaging Het
Chodl A G 16: 78,728,332 (GRCm39) S26G possibly damaging Het
Cic C T 7: 24,987,892 (GRCm39) P620S probably damaging Het
Col3a1 T C 1: 45,387,837 (GRCm39) probably benign Het
Dpyd G T 3: 118,591,186 (GRCm39) G225C probably damaging Het
Dst G A 1: 34,286,772 (GRCm39) V5560M probably damaging Het
Fryl T C 5: 73,245,740 (GRCm39) D1139G probably damaging Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Hc T C 2: 34,896,264 (GRCm39) D1173G probably benign Het
Htr2a T A 14: 74,879,428 (GRCm39) M19K probably benign Het
Kank4 G A 4: 98,665,335 (GRCm39) S653L possibly damaging Het
Kcnt2 G T 1: 140,435,485 (GRCm39) C484F probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Klhl1 A G 14: 96,755,282 (GRCm39) S158P probably benign Het
Ldb2 T C 5: 44,826,749 (GRCm39) D62G probably damaging Het
Ldhb T C 6: 142,436,183 (GRCm39) K329E possibly damaging Het
Mtmr7 T C 8: 41,011,203 (GRCm39) E285G possibly damaging Het
Or2p2 A T 13: 21,256,916 (GRCm39) I185N probably damaging Het
Or5k15 T C 16: 58,710,539 (GRCm39) I15V probably benign Het
Or6aa1 T A 7: 86,044,485 (GRCm39) T74S possibly damaging Het
Pi4kb T A 3: 94,903,918 (GRCm39) H501Q probably benign Het
Ppargc1b T C 18: 61,435,750 (GRCm39) K910R probably benign Het
Ppp1r12a G T 10: 108,085,339 (GRCm39) R428I probably benign Het
Rbbp8nl G T 2: 179,920,989 (GRCm39) T465N possibly damaging Het
Rpl5 T C 5: 108,052,723 (GRCm39) F223S possibly damaging Het
Scpep1 T C 11: 88,835,211 (GRCm39) K154R probably benign Het
Sil1 T C 18: 35,450,928 (GRCm39) Y249C probably benign Het
Slc12a1 T A 2: 125,067,964 (GRCm39) L1017Q probably damaging Het
Slc2a9 T C 5: 38,556,154 (GRCm39) N264S probably benign Het
Slc49a4 T C 16: 35,539,787 (GRCm39) M345V probably benign Het
Tdrd5 T A 1: 156,128,334 (GRCm39) M141L probably benign Het
Tdrd9 T C 12: 111,960,259 (GRCm39) C182R probably damaging Het
Thap4 T C 1: 93,678,709 (GRCm39) probably null Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Tnks1bp1 C T 2: 84,892,991 (GRCm39) R973* probably null Het
Ulk3 A G 9: 57,500,512 (GRCm39) Y307C probably damaging Het
Usp25 T C 16: 76,912,284 (GRCm39) L1001P probably damaging Het
Vmn2r80 A T 10: 78,984,764 (GRCm39) T39S probably benign Het
Vps33b G A 7: 79,937,655 (GRCm39) A468T possibly damaging Het
Wnt9a T C 11: 59,219,363 (GRCm39) S130P probably damaging Het
Zfp236 T C 18: 82,655,079 (GRCm39) E730G probably benign Het
Zfp689 C A 7: 127,047,925 (GRCm39) V36L probably benign Het
Zfp938 A G 10: 82,062,105 (GRCm39) S172P possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCACACATTTGGGTTGCAGAATC -3'
(R):5'- AGGAGTGCTCTTCTTTCGTC -3'

Sequencing Primer
(F):5'- CATTTGGGTTGCAGAATCAGAATTG -3'
(R):5'- CGTCTTGATTATTCTGAACAGTTGC -3'
Posted On 2015-07-21