Incidental Mutation 'R8966:Eea1'
| ID |
682748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eea1
|
| Ensembl Gene |
ENSMUSG00000036499 |
| Gene Name |
early endosome antigen 1 |
| Synonyms |
ZFYVE2, A430109M19Rik, B230358H09Rik |
| MMRRC Submission |
068800-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R8966 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
95776525-95881380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95832901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 249
(E249K)
|
| 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: E249K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: E249K
| 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 |
probably benign
Transcript: ENSMUST00000218291
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218517
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930444P10Rik |
A |
T |
1: 16,151,062 (GRCm39) |
M40K |
possibly damaging |
Het |
| Aak1 |
A |
C |
6: 86,964,234 (GRCm39) |
N945T |
unknown |
Het |
| Abca13 |
C |
G |
11: 9,578,588 (GRCm39) |
D4863E |
probably damaging |
Het |
| Abca8a |
C |
T |
11: 109,962,245 (GRCm39) |
|
probably null |
Het |
| Alppl2 |
T |
A |
1: 87,015,210 (GRCm39) |
N413I |
probably damaging |
Het |
| Asb13 |
T |
A |
13: 3,692,093 (GRCm39) |
H24Q |
probably damaging |
Het |
| Atg9b |
A |
G |
5: 24,596,200 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
T |
A |
1: 133,666,317 (GRCm39) |
H245L |
probably benign |
Het |
| B3galt2 |
A |
C |
1: 143,521,883 (GRCm39) |
R6S |
probably damaging |
Het |
| B4galnt2 |
T |
C |
11: 95,781,811 (GRCm39) |
H118R |
probably damaging |
Het |
| Ccdc121rt2 |
T |
A |
5: 112,598,103 (GRCm39) |
W217R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,544,872 (GRCm39) |
S372P |
probably benign |
Het |
| Cnn1 |
T |
C |
9: 22,010,716 (GRCm39) |
|
probably null |
Het |
| Cpne6 |
C |
T |
14: 55,750,060 (GRCm39) |
R64C |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,250,059 (GRCm39) |
H973L |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,901,474 (GRCm39) |
H1137Q |
probably damaging |
Het |
| Dnah3 |
G |
T |
7: 119,549,881 (GRCm39) |
Y500* |
probably null |
Het |
| Dnajc19 |
A |
G |
3: 34,132,893 (GRCm39) |
V104A |
unknown |
Het |
| Eif1ad19 |
G |
T |
12: 87,740,273 (GRCm39) |
Y95* |
probably null |
Het |
| Fancc |
T |
C |
13: 63,495,285 (GRCm39) |
Q213R |
probably benign |
Het |
| Gabrr1 |
A |
G |
4: 33,152,411 (GRCm39) |
|
probably null |
Het |
| Hgd |
T |
A |
16: 37,431,532 (GRCm39) |
V113E |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,351,717 (GRCm39) |
S809P |
probably benign |
Het |
| Lrrcc1 |
T |
C |
3: 14,602,359 (GRCm39) |
C151R |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,675,019 (GRCm39) |
S266G |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,672,837 (GRCm39) |
Q486* |
probably null |
Het |
| Mstn |
G |
T |
1: 53,105,641 (GRCm39) |
V328L |
probably benign |
Het |
| Ndc80 |
C |
A |
17: 71,815,573 (GRCm39) |
G404V |
probably benign |
Het |
| Nelfb |
T |
C |
2: 25,090,751 (GRCm39) |
R557G |
probably damaging |
Het |
| Nol10 |
T |
G |
12: 17,419,507 (GRCm39) |
V266G |
possibly damaging |
Het |
| Optc |
C |
A |
1: 133,828,872 (GRCm39) |
A245S |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,718,139 (GRCm39) |
L33P |
probably damaging |
Het |
| Or52ae7 |
A |
T |
7: 103,119,524 (GRCm39) |
I93F |
probably benign |
Het |
| Or5b111 |
A |
T |
19: 13,291,196 (GRCm39) |
F151Y |
probably damaging |
Het |
| Or6c75 |
A |
T |
10: 129,336,951 (GRCm39) |
Y58F |
probably damaging |
Het |
| Or8i2 |
T |
A |
2: 86,852,879 (GRCm39) |
E3V |
possibly damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,037 (GRCm39) |
T456A |
possibly damaging |
Het |
| Pkd1 |
A |
G |
17: 24,794,751 (GRCm39) |
E2146G |
possibly damaging |
Het |
| Pkdrej |
A |
T |
15: 85,702,012 (GRCm39) |
I1308N |
probably damaging |
Het |
| Plekha3 |
A |
T |
2: 76,523,006 (GRCm39) |
I225F |
probably benign |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,736 (GRCm39) |
D11E |
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,054,118 (GRCm39) |
D1155G |
unknown |
Het |
| Prcc |
T |
C |
3: 87,792,232 (GRCm39) |
K140E |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,554,229 (GRCm39) |
V334D |
possibly damaging |
Het |
| Rab3d |
G |
A |
9: 21,826,060 (GRCm39) |
T118M |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,438,379 (GRCm39) |
E206G |
probably benign |
Het |
| Rps17 |
C |
A |
7: 80,994,660 (GRCm39) |
V34L |
probably benign |
Het |
| Serpinb13 |
T |
C |
1: 106,928,165 (GRCm39) |
S262P |
probably damaging |
Het |
| Serpinb6b |
T |
A |
13: 33,162,035 (GRCm39) |
L278Q |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,680,332 (GRCm39) |
|
probably null |
Het |
| Slc27a5 |
C |
A |
7: 12,725,090 (GRCm39) |
R452S |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,001,122 (GRCm39) |
W74R |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,635,092 (GRCm39) |
T175A |
probably benign |
Het |
| Sos1 |
C |
A |
17: 80,705,879 (GRCm39) |
G1231C |
possibly damaging |
Het |
| Spata32 |
T |
C |
11: 103,100,143 (GRCm39) |
T121A |
probably damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,301,437 (GRCm39) |
F222Y |
probably benign |
Het |
| Stag3 |
T |
C |
5: 138,289,666 (GRCm39) |
Y279H |
probably damaging |
Het |
| Stk31 |
T |
C |
6: 49,423,134 (GRCm39) |
I795T |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,146,197 (GRCm39) |
I1665T |
probably damaging |
Het |
| Tas2r118 |
A |
G |
6: 23,970,020 (GRCm39) |
Y14H |
probably damaging |
Het |
| Tmc7 |
G |
A |
7: 118,160,228 (GRCm39) |
P203L |
probably benign |
Het |
| Tnik |
T |
G |
3: 28,587,044 (GRCm39) |
M105R |
unknown |
Het |
| Trrap |
A |
G |
5: 144,740,162 (GRCm39) |
T1195A |
probably damaging |
Het |
| Usf1 |
T |
A |
1: 171,245,101 (GRCm39) |
|
probably null |
Het |
| Usp53 |
G |
A |
3: 122,754,981 (GRCm39) |
T158I |
probably damaging |
Het |
| Uty |
T |
C |
Y: 1,099,748 (GRCm39) |
E1149G |
possibly damaging |
Het |
| Vmn2r23 |
G |
A |
6: 123,719,079 (GRCm39) |
V811M |
possibly damaging |
Het |
| Zfp663 |
T |
A |
2: 165,194,958 (GRCm39) |
K420N |
probably damaging |
Het |
| Zfp703 |
T |
C |
8: 27,468,302 (GRCm39) |
S91P |
possibly damaging |
Het |
| Zpld2 |
T |
C |
4: 133,929,712 (GRCm39) |
T198A |
probably damaging |
Het |
| Zscan4-ps1 |
A |
C |
7: 10,800,250 (GRCm39) |
I213S |
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 |
|
|
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 |
|
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'- GCAGGAATCAGTGTTTGCG -3'
(R):5'- CAGACTTGGTTTACTGCAACC -3'
Sequencing Primer
(F):5'- TGCGGTTTAGAGTCTAAAAATTGG -3'
(R):5'- TCACTTACCAACTGGCCT -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation