Incidental Mutation 'R2224:Eea1'
ID |
241558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eea1
|
Ensembl Gene |
ENSMUSG00000036499 |
Gene Name |
early endosome antigen 1 |
Synonyms |
ZFYVE2, A430109M19Rik, B230358H09Rik |
MMRRC Submission |
040225-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.293)
|
Stock # |
R2224 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
95776525-95881380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 95855874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 637
(V637D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053484]
[ENSMUST00000218291]
|
AlphaFold |
Q8BL66 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053484
AA Change: V637D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000061493 Gene: ENSMUSG00000036499 AA Change: V637D
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218088
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218291
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
G |
16: 14,289,932 (GRCm39) |
L1416R |
probably damaging |
Het |
Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,990,355 (GRCm39) |
|
probably benign |
Het |
Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
Arsb |
T |
A |
13: 93,930,679 (GRCm39) |
F216I |
probably damaging |
Het |
Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
Brinp3 |
C |
T |
1: 146,777,658 (GRCm39) |
Q702* |
probably null |
Het |
Btbd9 |
C |
A |
17: 30,746,320 (GRCm39) |
A169S |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,604,917 (GRCm39) |
N1132S |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
Cep250 |
A |
C |
2: 155,833,737 (GRCm39) |
E1886D |
possibly damaging |
Het |
Chd9 |
A |
C |
8: 91,737,913 (GRCm39) |
H1515P |
probably benign |
Het |
Cyp2c68 |
A |
G |
19: 39,724,026 (GRCm39) |
C213R |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,679,214 (GRCm39) |
T544I |
probably damaging |
Het |
Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
Exo1 |
A |
G |
1: 175,714,254 (GRCm39) |
|
probably null |
Het |
Fbxo21 |
T |
G |
5: 118,146,188 (GRCm39) |
Y597D |
probably damaging |
Het |
Fbxw20 |
G |
C |
9: 109,062,650 (GRCm39) |
Q59E |
possibly damaging |
Het |
Fpr3 |
T |
A |
17: 18,191,455 (GRCm39) |
V242D |
probably damaging |
Het |
Fyb1 |
A |
G |
15: 6,681,864 (GRCm39) |
Y737C |
probably damaging |
Het |
Gm17661 |
GG |
GGG |
2: 90,748,052 (GRCm39) |
|
noncoding transcript |
Het |
Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
Il17f |
A |
G |
1: 20,849,599 (GRCm39) |
V55A |
probably damaging |
Het |
Inpp1 |
T |
A |
1: 52,829,290 (GRCm39) |
E243V |
probably benign |
Het |
Leap2 |
A |
G |
11: 53,313,634 (GRCm39) |
L46P |
probably damaging |
Het |
Map4k3 |
A |
T |
17: 80,937,883 (GRCm39) |
D339E |
probably benign |
Het |
Met |
A |
G |
6: 17,563,721 (GRCm39) |
|
probably null |
Het |
Mgam |
G |
T |
6: 40,741,208 (GRCm39) |
|
probably null |
Het |
Mrgpra1 |
A |
G |
7: 46,984,854 (GRCm39) |
V275A |
possibly damaging |
Het |
Mrgprx2 |
T |
A |
7: 48,132,608 (GRCm39) |
Q70L |
probably benign |
Het |
Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
Mup18 |
G |
T |
4: 61,590,128 (GRCm39) |
F133L |
possibly damaging |
Het |
Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
Nin |
A |
T |
12: 70,108,004 (GRCm39) |
I196N |
probably damaging |
Het |
Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
Odc1 |
A |
G |
12: 17,597,336 (GRCm39) |
I13V |
probably benign |
Het |
Or1ad1 |
T |
C |
11: 50,876,059 (GRCm39) |
F177S |
probably damaging |
Het |
Or4a67 |
A |
T |
2: 88,597,930 (GRCm39) |
M243K |
possibly damaging |
Het |
Or5m12 |
T |
A |
2: 85,735,099 (GRCm39) |
I100F |
probably benign |
Het |
Pard3 |
A |
G |
8: 128,086,257 (GRCm39) |
I286V |
probably damaging |
Het |
Pcx |
T |
C |
19: 4,668,026 (GRCm39) |
I516T |
possibly damaging |
Het |
Ppp1r9a |
G |
T |
6: 5,154,074 (GRCm39) |
R1081L |
probably benign |
Het |
Prpf40b |
C |
T |
15: 99,201,172 (GRCm39) |
|
probably benign |
Het |
Rnmt |
C |
T |
18: 68,438,854 (GRCm39) |
|
probably benign |
Het |
Saxo5 |
A |
G |
8: 3,529,249 (GRCm39) |
T245A |
probably benign |
Het |
Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
Sirt2 |
A |
G |
7: 28,471,637 (GRCm39) |
|
probably null |
Het |
Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tsbp1 |
C |
A |
17: 34,667,737 (GRCm39) |
|
probably null |
Het |
Uqcrc2 |
T |
A |
7: 120,240,937 (GRCm39) |
V73E |
probably damaging |
Het |
Vmn2r100 |
A |
G |
17: 19,742,634 (GRCm39) |
K336R |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,701,295 (GRCm39) |
Y68* |
probably null |
Het |
Zbtb4 |
C |
T |
11: 69,667,184 (GRCm39) |
T163I |
probably benign |
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 |
|
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'- ACTCAACTGACGGAGAAGC -3'
(R):5'- TGTGCTGACAGTCCTACCAG -3'
Sequencing Primer
(F):5'- CTGAAGAATCAGTCGGAAAGCC -3'
(R):5'- TACAGAAATCACCTGTCCATAGGGAG -3'
|
Posted On |
2014-10-15 |