Incidental Mutation 'R3922:Eea1'
ID 306987
Institutional Source Beutler Lab
Gene Symbol Eea1
Ensembl Gene ENSMUSG00000036499
Gene Name early endosome antigen 1
Synonyms ZFYVE2, A430109M19Rik, B230358H09Rik
MMRRC Submission 040819-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.293) question?
Stock # R3922 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 95776525-95881380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95872495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1068 (N1068K)
Ref Sequence ENSEMBL: ENSMUSP00000061493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053484]
AlphaFold Q8BL66
Predicted Effect probably benign
Transcript: ENSMUST00000053484
AA Change: N1068K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: N1068K

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
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
4921504E06Rik T A 2: 19,485,371 (GRCm39) E432V probably benign Het
Ahnak G A 19: 8,983,692 (GRCm39) D1659N probably benign Het
Arfgap2 C T 2: 91,105,150 (GRCm39) R405W probably damaging Het
Arhgef28 A G 13: 98,130,452 (GRCm39) L462P possibly damaging Het
Arid1b T C 17: 5,393,316 (GRCm39) V2282A probably damaging Het
Becn2 T C 1: 175,748,852 (GRCm39) V306A probably benign Het
Cdkl1 G T 12: 69,803,373 (GRCm39) R168S probably damaging Het
Cep70 T A 9: 99,157,632 (GRCm39) *117R probably null Het
Cnnm1 A G 19: 43,428,884 (GRCm39) M1V probably null Het
Cntrl A G 2: 35,019,751 (GRCm39) E526G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Ddx59 T A 1: 136,344,482 (GRCm39) V51D probably benign Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Egfr T A 11: 16,831,495 (GRCm39) C555S probably damaging Het
Esd A T 14: 74,980,667 (GRCm39) Q130H probably benign Het
Gpr89 A T 3: 96,798,215 (GRCm39) I147N probably damaging Het
H2-M10.1 T A 17: 36,636,577 (GRCm39) I76L probably benign Het
Lgi4 A T 7: 30,766,873 (GRCm39) D300V probably benign Het
Lrp1b C A 2: 40,567,593 (GRCm39) V276L unknown Het
Lrp2 T C 2: 69,336,720 (GRCm39) K1351E probably benign Het
Mroh8 T C 2: 157,064,731 (GRCm39) I782V probably benign Het
Msrb1 T C 17: 24,959,057 (GRCm39) S70P probably damaging Het
Nek10 T C 14: 14,861,585 (GRCm38) M547T possibly damaging Het
Or51ah3 T C 7: 103,209,912 (GRCm39) V76A probably benign Het
Or6c2b C A 10: 128,947,482 (GRCm39) V271F possibly damaging Het
Or9i2 T C 19: 13,816,130 (GRCm39) T136A probably damaging Het
P4htm T C 9: 108,460,094 (GRCm39) N227D probably benign Het
Plekhm2 T C 4: 141,356,843 (GRCm39) T787A probably benign Het
Pramel5 A G 4: 143,999,622 (GRCm39) L155P probably damaging Het
Sbno1 T C 5: 124,519,993 (GRCm39) Y1122C probably damaging Het
Scn9a T A 2: 66,357,217 (GRCm39) D1028V possibly damaging Het
Sft2d1 G T 17: 8,537,714 (GRCm39) L34F possibly damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc27a3 G T 3: 90,294,392 (GRCm39) H460N possibly damaging Het
Slc35g2 A T 9: 100,434,780 (GRCm39) I297N probably benign Het
Ssh1 T G 5: 114,080,769 (GRCm39) Q865P possibly damaging Het
Trp63 A G 16: 25,707,759 (GRCm39) D583G probably damaging Het
Usp28 T C 9: 48,942,223 (GRCm39) probably null Het
Wdr43 A G 17: 71,945,296 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,465,707 (GRCm39) Y1955C probably damaging Het
Zfp108 G A 7: 23,960,773 (GRCm39) G455R probably damaging Het
Zfp353-ps A T 8: 42,536,049 (GRCm39) noncoding transcript 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
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
Predicted Primers PCR Primer
(F):5'- ATAGCCCAGGTATGGTGTAGG -3'
(R):5'- GTCTCAGATCCTCTCGAGTCTG -3'

Sequencing Primer
(F):5'- CCCAGGTATGGTGTAGGCTACAATG -3'
(R):5'- CAGATCCTCTCGAGTCTGAGGTAAG -3'
Posted On 2015-04-17