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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |