Incidental Mutation 'R7537:Eea1'
| ID |
583668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eea1
|
| Ensembl Gene |
ENSMUSG00000036499 |
| Gene Name |
early endosome antigen 1 |
| Synonyms |
ZFYVE2, A430109M19Rik, B230358H09Rik |
| MMRRC Submission |
045609-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R7537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
95776525-95881380 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 95830767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 143
(Q143*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053484]
[ENSMUST00000218291]
[ENSMUST00000218517]
|
| AlphaFold |
Q8BL66 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053484
AA Change: Q143*
|
| SMART Domains |
Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: Q143*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,967,637 (GRCm39) |
L2229P |
possibly damaging |
Het |
| Acaca |
T |
A |
11: 84,151,460 (GRCm39) |
M786K |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adap1 |
T |
G |
5: 139,278,928 (GRCm39) |
E117D |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,463,053 (GRCm39) |
S746P |
probably benign |
Het |
| Appl2 |
A |
G |
10: 83,453,292 (GRCm39) |
I208T |
possibly damaging |
Het |
| Astn1 |
A |
G |
1: 158,332,956 (GRCm39) |
E346G |
possibly damaging |
Het |
| Astn1 |
G |
A |
1: 158,495,208 (GRCm39) |
|
probably null |
Het |
| Atp23 |
T |
A |
10: 126,704,594 (GRCm39) |
I180L |
unknown |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
T |
10: 60,220,724 (GRCm39) |
I1340N |
probably benign |
Het |
| Cdh8 |
G |
A |
8: 99,825,517 (GRCm39) |
Q493* |
probably null |
Het |
| Ces1g |
T |
C |
8: 94,046,455 (GRCm39) |
I357V |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,798,291 (GRCm39) |
D226G |
probably damaging |
Het |
| Erlin2 |
G |
T |
8: 27,521,800 (GRCm39) |
|
probably null |
Het |
| Fat3 |
T |
A |
9: 15,849,615 (GRCm39) |
D3929V |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,271,247 (GRCm39) |
D898G |
probably damaging |
Het |
| Gm16519 |
A |
G |
17: 71,236,351 (GRCm39) |
N100S |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,299,428 (GRCm39) |
H533R |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,551,454 (GRCm39) |
T301A |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,869,527 (GRCm39) |
R4295* |
probably null |
Het |
| Insm2 |
T |
C |
12: 55,646,303 (GRCm39) |
S16P |
possibly damaging |
Het |
| Jak2 |
C |
T |
19: 29,276,037 (GRCm39) |
T778I |
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,806,734 (GRCm39) |
T128A |
probably damaging |
Het |
| Lst1 |
A |
G |
17: 35,405,920 (GRCm39) |
|
probably null |
Het |
| Magi1 |
G |
T |
6: 93,685,091 (GRCm39) |
Y762* |
probably null |
Het |
| Man2b1 |
T |
A |
8: 85,817,594 (GRCm39) |
C358* |
probably null |
Het |
| Mga |
T |
C |
2: 119,766,032 (GRCm39) |
V1432A |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Morc2a |
C |
T |
11: 3,633,566 (GRCm39) |
Q587* |
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,183,623 (GRCm39) |
I4T |
probably benign |
Het |
| Muc16 |
C |
A |
9: 18,549,431 (GRCm39) |
V5621F |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,047,513 (GRCm39) |
R340G |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,218,248 (GRCm39) |
Y34C |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,345 (GRCm39) |
D804E |
unknown |
Het |
| Nlrp4b |
A |
G |
7: 10,448,816 (GRCm39) |
M340V |
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,480,094 (GRCm39) |
T157S |
probably benign |
Het |
| Or2ag2b |
G |
A |
7: 106,417,581 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
| Or5al5 |
A |
G |
2: 85,961,608 (GRCm39) |
V133A |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,337,063 (GRCm39) |
N1271K |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,672 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,732,118 (GRCm39) |
V3540A |
unknown |
Het |
| Pemt |
A |
G |
11: 59,867,670 (GRCm39) |
F154S |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rnpc3 |
G |
T |
3: 113,407,481 (GRCm39) |
T376K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,310,246 (GRCm39) |
Y143C |
probably damaging |
Het |
| Sbk2 |
T |
C |
7: 4,966,148 (GRCm39) |
E12G |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,213,526 (GRCm39) |
I106T |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,135,981 (GRCm39) |
D92G |
probably damaging |
Het |
| Sorl1 |
C |
T |
9: 41,891,984 (GRCm39) |
V1889I |
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,846,563 (GRCm39) |
N29I |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,378,108 (GRCm39) |
V878A |
probably damaging |
Het |
| Timp4 |
A |
G |
6: 115,227,421 (GRCm39) |
S53P |
probably damaging |
Het |
| Tssk1 |
G |
T |
16: 17,712,948 (GRCm39) |
E244D |
probably benign |
Het |
| Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,258,735 (GRCm39) |
V440E |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,217,001 (GRCm39) |
D270G |
|
Het |
| Zbbx |
G |
A |
3: 74,992,826 (GRCm39) |
P223S |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,239 (GRCm39) |
C235* |
probably null |
Het |
| Zranb3 |
A |
T |
1: 127,960,584 (GRCm39) |
|
probably null |
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 |
|
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'- TCCCTGGATATGGCAGATCTT -3'
(R):5'- ACCAACAGTAGACTACTTAGTACTTT -3'
Sequencing Primer
(F):5'- TAAAAGGCAAAACTAAACCTCTAAGC -3'
(R):5'- CTCCATTAATCACTTCTATAGTTTAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation