Incidental Mutation 'R5588:Eea1'
| ID |
438898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eea1
|
| Ensembl Gene |
ENSMUSG00000036499 |
| Gene Name |
early endosome antigen 1 |
| Synonyms |
ZFYVE2, A430109M19Rik, B230358H09Rik |
| MMRRC Submission |
043268-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R5588 (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 C
at 95859772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 686
(V686A)
|
| 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: V686A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: V686A
| 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: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
A |
15: 81,949,417 (GRCm39) |
Q1105K |
possibly damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,573,277 (GRCm39) |
V175D |
possibly damaging |
Het |
| Aldh1a2 |
G |
A |
9: 71,190,732 (GRCm39) |
R325H |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,438,878 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
A |
G |
5: 67,972,027 (GRCm39) |
L43P |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,256,937 (GRCm39) |
|
probably null |
Het |
| Ccdc85c |
T |
C |
12: 108,177,793 (GRCm39) |
Y320C |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,293,886 (GRCm39) |
L290* |
probably null |
Het |
| Cyp2c66 |
A |
G |
19: 39,151,858 (GRCm39) |
D191G |
possibly damaging |
Het |
| Dhx34 |
T |
C |
7: 15,932,825 (GRCm39) |
H1038R |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,349,517 (GRCm39) |
C101* |
probably null |
Het |
| Eif4a3 |
A |
C |
11: 119,186,952 (GRCm39) |
S84A |
probably benign |
Het |
| Elfn2 |
T |
C |
15: 78,558,076 (GRCm39) |
D157G |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,173,103 (GRCm39) |
I2537F |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,659,248 (GRCm39) |
F350L |
probably damaging |
Het |
| Fgd3 |
A |
T |
13: 49,440,786 (GRCm39) |
L215Q |
probably damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,372,783 (GRCm39) |
V73A |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,599,166 (GRCm39) |
T690S |
probably damaging |
Het |
| Gask1a |
C |
T |
9: 121,794,247 (GRCm39) |
Q134* |
probably null |
Het |
| Gm14418 |
A |
T |
2: 177,079,065 (GRCm39) |
I310K |
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,921,584 (GRCm39) |
N528K |
probably benign |
Het |
| Gsap |
A |
C |
5: 21,456,147 (GRCm39) |
E417A |
probably damaging |
Het |
| Kcnab1 |
A |
C |
3: 65,283,976 (GRCm39) |
D398A |
possibly damaging |
Het |
| Kif5b |
T |
G |
18: 6,225,787 (GRCm39) |
N160T |
probably benign |
Het |
| Lilrb4b |
G |
A |
10: 51,357,422 (GRCm39) |
R86Q |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,134,026 (GRCm39) |
|
probably null |
Het |
| Mlph |
T |
C |
1: 90,859,321 (GRCm39) |
S219P |
possibly damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,376,697 (GRCm39) |
I95T |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,469,437 (GRCm39) |
I572N |
possibly damaging |
Het |
| Nup155 |
G |
A |
15: 8,148,737 (GRCm39) |
|
probably null |
Het |
| Olfml2a |
T |
C |
2: 38,850,047 (GRCm39) |
S588P |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,269,760 (GRCm39) |
R288G |
probably damaging |
Het |
| Or4c12 |
T |
A |
2: 89,774,136 (GRCm39) |
T108S |
probably benign |
Het |
| Or6c1 |
T |
G |
10: 129,517,705 (GRCm39) |
N301T |
possibly damaging |
Het |
| Parva |
C |
A |
7: 112,159,269 (GRCm39) |
N142K |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,838,412 (GRCm39) |
S4678R |
unknown |
Het |
| Pcnt |
T |
C |
10: 76,278,445 (GRCm39) |
D3G |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,374,367 (GRCm39) |
S1923A |
possibly damaging |
Het |
| Per1 |
G |
A |
11: 68,998,453 (GRCm39) |
G1055D |
probably damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,249 (GRCm39) |
Q518* |
probably null |
Het |
| Plb1 |
G |
A |
5: 32,487,293 (GRCm39) |
|
probably null |
Het |
| Ppp1r14a |
C |
T |
7: 28,992,709 (GRCm39) |
P137L |
probably damaging |
Het |
| Rfx2 |
A |
T |
17: 57,086,890 (GRCm39) |
S612T |
possibly damaging |
Het |
| Rtel1 |
T |
C |
2: 180,993,893 (GRCm39) |
F642L |
probably benign |
Het |
| Sec14l3 |
T |
C |
11: 4,016,138 (GRCm39) |
F19S |
probably damaging |
Het |
| Skint8 |
A |
T |
4: 111,794,089 (GRCm39) |
M160L |
probably benign |
Het |
| Slc19a3 |
G |
T |
1: 83,000,776 (GRCm39) |
Y80* |
probably null |
Het |
| Slc37a1 |
T |
A |
17: 31,565,431 (GRCm39) |
W489R |
probably damaging |
Het |
| Smc4 |
A |
G |
3: 68,933,190 (GRCm39) |
I604V |
probably benign |
Het |
| Srprb |
G |
T |
9: 103,076,048 (GRCm39) |
Y796* |
probably null |
Het |
| Tdrd7 |
T |
A |
4: 45,992,225 (GRCm39) |
S220T |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,067,215 (GRCm39) |
F2215S |
probably damaging |
Het |
| Ticrr |
C |
T |
7: 79,328,853 (GRCm39) |
A664V |
probably damaging |
Het |
| Tnc |
T |
G |
4: 63,924,659 (GRCm39) |
D1013A |
possibly damaging |
Het |
| Tpte |
T |
A |
8: 22,774,983 (GRCm39) |
Y18N |
possibly damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,798,339 (GRCm39) |
Q386L |
probably damaging |
Het |
| Vmn1r194 |
T |
C |
13: 22,428,512 (GRCm39) |
V43A |
possibly damaging |
Het |
| Vmn2r130 |
A |
T |
17: 23,282,803 (GRCm39) |
Q161L |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,468,198 (GRCm39) |
D2785E |
probably 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 |
|
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'- TTAGCTGTTACACAAATTAGCTTGG -3'
(R):5'- TTGAGTGGAAAATACGACAAATCCG -3'
Sequencing Primer
(F):5'- GCTTGGTATCTAACAGTATGTACAAC -3'
(R):5'- CGACAAATCCGACTGGTTTTAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation