Incidental Mutation 'R6468:Eea1'
| ID |
516436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eea1
|
| Ensembl Gene |
ENSMUSG00000036499 |
| Gene Name |
early endosome antigen 1 |
| Synonyms |
ZFYVE2, A430109M19Rik, B230358H09Rik |
| MMRRC Submission |
044601-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R6468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
95776525-95881380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 95864274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 931
(I931R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053484]
[ENSMUST00000218291]
|
| AlphaFold |
Q8BL66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053484
AA Change: I931R
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: I931R
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,177,747 (GRCm39) |
V305A |
possibly damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,198,012 (GRCm39) |
T91A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,865,595 (GRCm39) |
I860V |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,482,866 (GRCm39) |
S132P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,062,592 (GRCm39) |
I3368T |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,946,266 (GRCm39) |
V33E |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,330,548 (GRCm39) |
V989D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,712,989 (GRCm39) |
D1807G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,854,987 (GRCm39) |
M807T |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,672,589 (GRCm39) |
D320G |
probably damaging |
Het |
| Cryzl1 |
A |
C |
16: 91,489,413 (GRCm39) |
|
probably null |
Het |
| Dcbld2 |
A |
T |
16: 58,253,736 (GRCm39) |
K158* |
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,069,575 (GRCm39) |
N437S |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,855,464 (GRCm39) |
S1496L |
probably benign |
Het |
| Eif2ak4 |
C |
A |
2: 118,266,722 (GRCm39) |
L714I |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,125,509 (GRCm39) |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,409,413 (GRCm39) |
K238* |
probably null |
Het |
| Fam83f |
A |
G |
15: 80,576,312 (GRCm39) |
Y321C |
possibly damaging |
Het |
| Fanci |
A |
G |
7: 79,067,687 (GRCm39) |
I42V |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,121,728 (GRCm39) |
R1299S |
unknown |
Het |
| Gak |
G |
T |
5: 108,771,202 (GRCm39) |
C102* |
probably null |
Het |
| Gcnt7 |
A |
G |
2: 172,295,993 (GRCm39) |
L277P |
probably damaging |
Het |
| Gucy2d |
A |
G |
7: 98,099,168 (GRCm39) |
E329G |
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,040,755 (GRCm39) |
I167V |
probably damaging |
Het |
| Hdlbp |
T |
A |
1: 93,345,389 (GRCm39) |
D662V |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,155,883 (GRCm39) |
V674E |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,290,320 (GRCm39) |
Q442R |
possibly damaging |
Het |
| Lce1j |
A |
T |
3: 92,696,729 (GRCm39) |
C16* |
probably null |
Het |
| Lrat |
A |
T |
3: 82,810,799 (GRCm39) |
M74K |
probably damaging |
Het |
| Lrig2 |
G |
A |
3: 104,374,509 (GRCm39) |
R191C |
probably damaging |
Het |
| Lrrc37a |
A |
C |
11: 103,351,666 (GRCm39) |
F2558L |
unknown |
Het |
| Mctp1 |
T |
A |
13: 76,879,930 (GRCm39) |
|
probably null |
Het |
| Mecom |
T |
A |
3: 30,194,535 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
A |
G |
6: 138,118,585 (GRCm39) |
|
probably null |
Het |
| Ms4a15 |
T |
G |
19: 10,970,534 (GRCm39) |
E3A |
probably benign |
Het |
| Myo1d |
T |
C |
11: 80,448,300 (GRCm39) |
I942V |
probably benign |
Het |
| Neu2 |
A |
G |
1: 87,524,600 (GRCm39) |
Y195C |
probably damaging |
Het |
| Nipa1 |
A |
T |
7: 55,669,252 (GRCm39) |
V22E |
probably benign |
Het |
| Or4n4b |
A |
T |
14: 50,535,924 (GRCm39) |
L281I |
probably benign |
Het |
| Or6c35 |
T |
C |
10: 129,169,580 (GRCm39) |
S277P |
possibly damaging |
Het |
| Or8k25 |
T |
A |
2: 86,244,381 (GRCm39) |
N5I |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,562,389 (GRCm39) |
T1223A |
possibly damaging |
Het |
| Ppl |
T |
C |
16: 4,910,305 (GRCm39) |
D811G |
probably damaging |
Het |
| Prep |
T |
A |
10: 44,991,203 (GRCm39) |
Y290N |
probably damaging |
Het |
| Ptk6 |
A |
T |
2: 180,840,895 (GRCm39) |
H215Q |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,582,971 (GRCm39) |
I474T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,343,513 (GRCm39) |
V3626E |
possibly damaging |
Het |
| Scn4a |
C |
T |
11: 106,236,502 (GRCm39) |
V253M |
probably damaging |
Het |
| Snta1 |
T |
A |
2: 154,219,069 (GRCm39) |
D422V |
probably damaging |
Het |
| Spata31h1 |
G |
T |
10: 82,131,150 (GRCm39) |
T620K |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,203,086 (GRCm39) |
L160P |
probably benign |
Het |
| Tapbp |
T |
C |
17: 34,145,072 (GRCm39) |
F323S |
probably damaging |
Het |
| Uggt1 |
C |
T |
1: 36,212,531 (GRCm39) |
R937Q |
probably benign |
Het |
| Vash2 |
G |
A |
1: 190,710,484 (GRCm39) |
P57L |
probably damaging |
Het |
| Vmn1r4 |
G |
A |
6: 56,933,852 (GRCm39) |
V119I |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,599 (GRCm39) |
D31G |
probably benign |
Het |
| Zfp114 |
T |
C |
7: 23,877,206 (GRCm39) |
V16A |
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 |
|
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 |
|
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'- CAGCTAGCTCATGTCACTAATTGCTAC -3'
(R):5'- GCCCACATATTTCTTTCTATAGGAG -3'
Sequencing Primer
(F):5'- GTCACTAATTGCTACGAGATAAGCC -3'
(R):5'- AGCTGATTTATGGTCCCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation