Incidental Mutation 'R0374:Eea1'
| ID |
38526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eea1
|
| Ensembl Gene |
ENSMUSG00000036499 |
| Gene Name |
early endosome antigen 1 |
| Synonyms |
ZFYVE2, A430109M19Rik, B230358H09Rik |
| MMRRC Submission |
038580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R0374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
95776525-95881380 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 95875634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053484]
|
| AlphaFold |
Q8BL66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053484
|
| SMART Domains |
Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano9 |
A |
G |
7: 140,687,727 (GRCm39) |
I267T |
probably damaging |
Het |
| Anxa6 |
T |
A |
11: 54,896,654 (GRCm39) |
N168I |
probably benign |
Het |
| Apbb1ip |
A |
G |
2: 22,709,717 (GRCm39) |
|
probably benign |
Het |
| Aqr |
G |
A |
2: 113,961,092 (GRCm39) |
H723Y |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,721,357 (GRCm39) |
|
probably benign |
Het |
| Casp9 |
T |
A |
4: 141,534,484 (GRCm39) |
I298N |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,220,430 (GRCm39) |
E261G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,951,954 (GRCm39) |
Y376* |
probably null |
Het |
| Cped1 |
T |
A |
6: 22,222,545 (GRCm39) |
|
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,601,073 (GRCm39) |
S563R |
possibly damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,490,637 (GRCm39) |
|
probably null |
Het |
| Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,311,084 (GRCm39) |
T112A |
probably benign |
Het |
| Dusp1 |
A |
G |
17: 26,727,143 (GRCm39) |
V52A |
probably damaging |
Het |
| Etfrf1 |
T |
C |
6: 145,161,288 (GRCm39) |
V86A |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,163,596 (GRCm39) |
C2087S |
possibly damaging |
Het |
| Fosb |
T |
G |
7: 19,041,075 (GRCm39) |
R139S |
probably damaging |
Het |
| Foxm1 |
C |
T |
6: 128,349,566 (GRCm39) |
R362W |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,561,381 (GRCm39) |
V1042A |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,280,802 (GRCm39) |
H401R |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,235 (GRCm39) |
|
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,251,758 (GRCm39) |
|
probably benign |
Het |
| H2-DMb1 |
T |
C |
17: 34,378,399 (GRCm39) |
V235A |
probably benign |
Het |
| Hr |
A |
G |
14: 70,793,916 (GRCm39) |
T59A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,260,890 (GRCm39) |
A588S |
probably benign |
Het |
| Kmt2c |
G |
A |
5: 25,514,706 (GRCm39) |
P3046S |
probably damaging |
Het |
| Lamc1 |
G |
A |
1: 153,126,811 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,260,651 (GRCm39) |
Y4527H |
probably damaging |
Het |
| Map3k2 |
G |
A |
18: 32,345,226 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Nfs1 |
C |
G |
2: 155,974,580 (GRCm39) |
G212R |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,340,054 (GRCm39) |
Y740F |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,185,772 (GRCm39) |
M859K |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,745,103 (GRCm39) |
F451S |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,505 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c6c |
G |
A |
10: 129,541,516 (GRCm39) |
M256I |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,278,720 (GRCm39) |
Y567H |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,100,796 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
A |
G |
5: 21,953,829 (GRCm39) |
D359G |
probably damaging |
Het |
| Poll |
T |
G |
19: 45,546,309 (GRCm39) |
S244R |
probably benign |
Het |
| Prkd3 |
T |
C |
17: 79,264,644 (GRCm39) |
D657G |
probably null |
Het |
| Prune2 |
G |
A |
19: 17,098,274 (GRCm39) |
M1259I |
probably benign |
Het |
| Ptpra |
T |
A |
2: 130,379,541 (GRCm39) |
M329K |
probably damaging |
Het |
| Rbm10 |
GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG |
GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG |
X: 20,503,798 (GRCm39) |
|
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,237,880 (GRCm39) |
D839E |
probably damaging |
Het |
| Sap30bp |
T |
A |
11: 115,855,103 (GRCm39) |
I271N |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,828,874 (GRCm39) |
C178S |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,918 (GRCm39) |
V587E |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,232,164 (GRCm39) |
|
probably benign |
Het |
| Sgk3 |
T |
A |
1: 9,949,306 (GRCm39) |
|
probably null |
Het |
| Shox2 |
A |
T |
3: 66,881,184 (GRCm39) |
H265Q |
probably damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,783,017 (GRCm39) |
F427S |
possibly damaging |
Het |
| Smarca5 |
T |
A |
8: 81,463,360 (GRCm39) |
Q69H |
probably benign |
Het |
| Specc1l |
T |
A |
10: 75,084,293 (GRCm39) |
F672Y |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,298,969 (GRCm39) |
S105R |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,968,000 (GRCm39) |
R917* |
probably null |
Het |
| Tbc1d2 |
G |
A |
4: 46,649,913 (GRCm39) |
T41M |
possibly damaging |
Het |
| Tbx18 |
T |
A |
9: 87,606,408 (GRCm39) |
I246F |
probably damaging |
Het |
| Tcf4 |
T |
A |
18: 69,814,883 (GRCm39) |
|
probably benign |
Het |
| Tmed2 |
C |
A |
5: 124,679,502 (GRCm39) |
|
probably null |
Het |
| Tmem243 |
A |
T |
5: 9,151,361 (GRCm39) |
D15V |
possibly damaging |
Het |
| Vmn2r87 |
T |
A |
10: 130,307,848 (GRCm39) |
S797C |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,793,528 (GRCm39) |
|
probably benign |
Het |
| Wls |
T |
A |
3: 159,603,074 (GRCm39) |
C162* |
probably null |
Het |
| Zbtb7c |
C |
T |
18: 76,270,464 (GRCm39) |
T184I |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,546,405 (GRCm39) |
K169E |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTGCCTTTCCAGAAGAAGCAAT -3'
(R):5'- GCAGGGGTTACACACTTTCCTCAAT -3'
Sequencing Primer
(F):5'- GCTTACTATGCAGGTCACAAC -3'
(R):5'- ctatctatcttccagacagggtttc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation