Incidental Mutation 'IGL01646:Eea1'
| ID |
102690 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eea1
|
| Ensembl Gene |
ENSMUSG00000036499 |
| Gene Name |
early endosome antigen 1 |
| Synonyms |
ZFYVE2, A430109M19Rik, B230358H09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
IGL01646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
95776525-95881380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95832877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 241
(T241A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053484]
[ENSMUST00000218291]
[ENSMUST00000218517]
|
| AlphaFold |
Q8BL66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053484
AA Change: T241A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: T241A
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218517
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
C |
T |
4: 63,066,977 (GRCm39) |
V188I |
probably benign |
Het |
| Bbs9 |
G |
T |
9: 22,582,221 (GRCm39) |
E638* |
probably null |
Het |
| Bmp6 |
A |
G |
13: 38,682,904 (GRCm39) |
M465V |
probably damaging |
Het |
| Ccdc192 |
T |
A |
18: 57,800,417 (GRCm39) |
C171* |
probably null |
Het |
| Cemip |
T |
C |
7: 83,632,440 (GRCm39) |
E374G |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,895,141 (GRCm39) |
Y200* |
probably null |
Het |
| Cox6b1 |
G |
T |
7: 30,323,929 (GRCm39) |
Y34* |
probably null |
Het |
| Cyp2d26 |
A |
C |
15: 82,675,619 (GRCm39) |
I303M |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 38,026,469 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
T |
C |
5: 104,359,731 (GRCm39) |
S136P |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Erap1 |
C |
A |
13: 74,814,291 (GRCm39) |
T25K |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,906,007 (GRCm39) |
E3137G |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,179,844 (GRCm39) |
|
probably null |
Het |
| Gldc |
T |
G |
19: 30,078,165 (GRCm39) |
D944A |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,689,267 (GRCm39) |
Y546C |
probably damaging |
Het |
| Igkv1-122 |
G |
A |
6: 67,993,728 (GRCm39) |
M1I |
probably null |
Het |
| Jag2 |
G |
A |
12: 112,879,969 (GRCm39) |
P380S |
possibly damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,108,311 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
C |
9: 44,736,781 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,022,333 (GRCm39) |
V286A |
probably damaging |
Het |
| Mllt10 |
C |
A |
2: 18,127,128 (GRCm39) |
H82N |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,039,639 (GRCm39) |
R837L |
probably damaging |
Het |
| Nsg1 |
C |
A |
5: 38,313,035 (GRCm39) |
D55Y |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,617,247 (GRCm39) |
R221M |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,837,583 (GRCm39) |
A1213D |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,885,665 (GRCm39) |
G174S |
probably damaging |
Het |
| Papss2 |
C |
T |
19: 32,629,482 (GRCm39) |
A357V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,881 (GRCm39) |
K4118R |
unknown |
Het |
| Pde2a |
T |
C |
7: 101,156,918 (GRCm39) |
I628T |
possibly damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,325,708 (GRCm39) |
W521R |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,153,813 (GRCm39) |
Q744L |
probably damaging |
Het |
| Pnpo |
T |
A |
11: 96,829,775 (GRCm39) |
E251V |
possibly damaging |
Het |
| Rdh10 |
C |
T |
1: 16,178,246 (GRCm39) |
H173Y |
possibly damaging |
Het |
| Sgpp2 |
A |
T |
1: 78,393,533 (GRCm39) |
I179F |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,423,899 (GRCm39) |
P409L |
probably damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,135,364 (GRCm39) |
N316I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,064,148 (GRCm39) |
I712V |
probably benign |
Het |
| Spr |
T |
C |
6: 85,111,222 (GRCm39) |
D216G |
possibly damaging |
Het |
| Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
| Tas2r124 |
T |
C |
6: 132,732,332 (GRCm39) |
S214P |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,549,936 (GRCm39) |
S233T |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,269,279 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,337 (GRCm39) |
F317S |
probably benign |
Het |
| Vmn2r99 |
C |
A |
17: 19,613,920 (GRCm39) |
|
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,331 (GRCm39) |
E156G |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation