Incidental Mutation 'R8213:Fgd6'
| ID |
636268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd6
|
| Ensembl Gene |
ENSMUSG00000020021 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 6 |
| Synonyms |
Etohd4, ZFYVE24 |
| MMRRC Submission |
067655-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.413)
|
| Stock # |
R8213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93871863-93981201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93879914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 256
(D256V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020208]
|
| AlphaFold |
Q69ZL1 |
| PDB Structure |
Solution Structure of the Pleckstrin Homology Domain of Mouse Ethanol Decreased 4 Protein [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020208
AA Change: D256V
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: D256V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
821 |
N/A |
INTRINSIC |
|
RhoGEF
|
845 |
1029 |
3.09e-46 |
SMART |
|
PH
|
1060 |
1155 |
6.25e-15 |
SMART |
|
FYVE
|
1183 |
1251 |
6.93e-28 |
SMART |
|
low complexity region
|
1268 |
1282 |
N/A |
INTRINSIC |
|
PH
|
1303 |
1398 |
1.54e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
| Acss1 |
T |
A |
2: 150,461,630 (GRCm39) |
D651V |
possibly damaging |
Het |
| Aktip |
G |
T |
8: 91,851,494 (GRCm39) |
P243H |
possibly damaging |
Het |
| Arl11 |
T |
G |
14: 61,548,714 (GRCm39) |
S175A |
probably benign |
Het |
| Aup1 |
A |
G |
6: 83,031,588 (GRCm39) |
|
probably benign |
Het |
| Avil |
A |
T |
10: 126,844,190 (GRCm39) |
I250F |
probably damaging |
Het |
| Btnl6 |
A |
T |
17: 34,727,857 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
C |
A |
8: 129,904,772 (GRCm39) |
Q137K |
probably benign |
Het |
| Cdk11b |
G |
A |
4: 155,724,338 (GRCm39) |
E319K |
unknown |
Het |
| Chka |
A |
C |
19: 3,935,882 (GRCm39) |
E196A |
probably damaging |
Het |
| Depdc5 |
C |
T |
5: 33,094,981 (GRCm39) |
R753C |
probably damaging |
Het |
| Dhx57 |
T |
A |
17: 80,582,585 (GRCm39) |
D340V |
possibly damaging |
Het |
| Dicer1 |
A |
T |
12: 104,668,952 (GRCm39) |
D1243E |
probably benign |
Het |
| Dnajb9 |
A |
T |
12: 44,253,916 (GRCm39) |
L164M |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,742,740 (GRCm39) |
V785A |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,006,897 (GRCm39) |
Y909C |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,208,783 (GRCm39) |
S226T |
probably benign |
Het |
| Fhl5 |
A |
T |
4: 25,207,113 (GRCm39) |
Y218* |
probably null |
Het |
| Filip1 |
C |
A |
9: 79,725,374 (GRCm39) |
A1082S |
probably benign |
Het |
| Heatr5a |
G |
A |
12: 51,938,226 (GRCm39) |
T1484M |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,358,170 (GRCm39) |
R2417L |
probably damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,044,486 (GRCm39) |
|
probably benign |
Het |
| Igsf5 |
A |
T |
16: 96,174,188 (GRCm39) |
I73F |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,449,995 (GRCm39) |
V91A |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,281,529 (GRCm39) |
D510G |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,269 (GRCm39) |
K548E |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 941,515 (GRCm39) |
C1239S |
probably damaging |
Het |
| Mamdc4 |
G |
A |
2: 25,456,368 (GRCm39) |
T709M |
probably benign |
Het |
| Mybbp1a |
T |
A |
11: 72,335,547 (GRCm39) |
Y353N |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,267,855 (GRCm39) |
E40D |
probably benign |
Het |
| Nhsl3 |
A |
T |
4: 129,115,252 (GRCm39) |
V1070D |
possibly damaging |
Het |
| Npat |
G |
T |
9: 53,481,870 (GRCm39) |
E1193* |
probably null |
Het |
| Nrde2 |
G |
A |
12: 100,097,262 (GRCm39) |
S846L |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,202,138 (GRCm39) |
V1290A |
probably benign |
Het |
| Or10a49 |
C |
A |
7: 108,467,726 (GRCm39) |
V212L |
probably benign |
Het |
| Or4d10b |
A |
G |
19: 12,036,456 (GRCm39) |
V220A |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,551,845 (GRCm39) |
L32Q |
probably null |
Het |
| Pde6a |
A |
T |
18: 61,353,768 (GRCm39) |
K31M |
possibly damaging |
Het |
| Pms2 |
C |
T |
5: 143,851,589 (GRCm39) |
R169C |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,775,621 (GRCm39) |
L30Q |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,380,755 (GRCm39) |
M423L |
probably benign |
Het |
| Pramel30 |
A |
T |
4: 144,057,030 (GRCm39) |
D71V |
probably benign |
Het |
| Prdm15 |
T |
A |
16: 97,608,260 (GRCm39) |
H679L |
probably damaging |
Het |
| Prl4a1 |
T |
G |
13: 28,207,369 (GRCm39) |
Y214* |
probably null |
Het |
| Prlr |
C |
T |
15: 10,329,328 (GRCm39) |
T601M |
possibly damaging |
Het |
| Psen2 |
A |
C |
1: 180,073,256 (GRCm39) |
S22A |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,769,699 (GRCm39) |
R764L |
probably damaging |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,833 (GRCm39) |
E89G |
probably damaging |
Het |
| Serpina10 |
T |
C |
12: 103,594,536 (GRCm39) |
I228V |
probably benign |
Het |
| Serpinb1a |
T |
A |
13: 33,026,982 (GRCm39) |
H320L |
probably damaging |
Het |
| Sesn2 |
C |
A |
4: 132,225,364 (GRCm39) |
Q267H |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,398,877 (GRCm39) |
W1019R |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,193,151 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,669,137 (GRCm39) |
M39V |
probably benign |
Het |
| Tgm7 |
A |
G |
2: 120,931,545 (GRCm39) |
V206A |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,897,094 (GRCm39) |
|
probably null |
Het |
| Trpv1 |
T |
C |
11: 73,145,077 (GRCm39) |
F721S |
probably damaging |
Het |
| Ttll10 |
A |
T |
4: 156,120,691 (GRCm39) |
M433K |
probably benign |
Het |
| Vmn1r216 |
T |
C |
13: 23,283,695 (GRCm39) |
I126T |
probably benign |
Het |
| Vmn2r108 |
G |
A |
17: 20,690,350 (GRCm39) |
S494F |
probably benign |
Het |
| Vwa3b |
C |
T |
1: 37,168,020 (GRCm39) |
A603V |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,307,210 (GRCm39) |
N19K |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 24,093,779 (GRCm39) |
N421K |
probably damaging |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Fgd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00764:Fgd6
|
APN |
10 |
93,879,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00975:Fgd6
|
APN |
10 |
93,969,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01366:Fgd6
|
APN |
10 |
93,879,338 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01940:Fgd6
|
APN |
10 |
93,925,512 (GRCm39) |
splice site |
probably null |
|
|
IGL01958:Fgd6
|
APN |
10 |
93,974,170 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01988:Fgd6
|
APN |
10 |
93,910,197 (GRCm39) |
splice site |
probably benign |
|
|
IGL02019:Fgd6
|
APN |
10 |
93,969,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02074:Fgd6
|
APN |
10 |
93,963,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02227:Fgd6
|
APN |
10 |
93,969,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02262:Fgd6
|
APN |
10 |
93,961,490 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02353:Fgd6
|
APN |
10 |
93,974,258 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02360:Fgd6
|
APN |
10 |
93,974,258 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02425:Fgd6
|
APN |
10 |
93,910,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02526:Fgd6
|
APN |
10 |
93,936,373 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02607:Fgd6
|
APN |
10 |
93,880,310 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02741:Fgd6
|
APN |
10 |
93,959,152 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02870:Fgd6
|
APN |
10 |
93,881,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Fgd6
|
APN |
10 |
93,881,501 (GRCm39) |
splice site |
probably benign |
|
|
IGL02995:Fgd6
|
APN |
10 |
93,881,342 (GRCm39) |
nonsense |
probably null |
|
|
IGL03189:Fgd6
|
APN |
10 |
93,880,318 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03258:Fgd6
|
APN |
10 |
93,969,215 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03396:Fgd6
|
APN |
10 |
93,880,318 (GRCm39) |
missense |
probably benign |
0.26 |
|
FR4449:Fgd6
|
UTSW |
10 |
93,880,182 (GRCm39) |
small deletion |
probably benign |
|
|
R0257:Fgd6
|
UTSW |
10 |
93,879,777 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0926:Fgd6
|
UTSW |
10 |
93,970,909 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1325:Fgd6
|
UTSW |
10 |
93,963,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Fgd6
|
UTSW |
10 |
93,881,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Fgd6
|
UTSW |
10 |
93,880,694 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1593:Fgd6
|
UTSW |
10 |
93,880,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Fgd6
|
UTSW |
10 |
93,973,298 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1929:Fgd6
|
UTSW |
10 |
93,880,868 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2064:Fgd6
|
UTSW |
10 |
93,880,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2965:Fgd6
|
UTSW |
10 |
93,880,056 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2966:Fgd6
|
UTSW |
10 |
93,880,056 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3889:Fgd6
|
UTSW |
10 |
93,925,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Fgd6
|
UTSW |
10 |
93,879,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4605:Fgd6
|
UTSW |
10 |
93,880,217 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4883:Fgd6
|
UTSW |
10 |
93,975,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5217:Fgd6
|
UTSW |
10 |
93,969,939 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5473:Fgd6
|
UTSW |
10 |
93,880,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5606:Fgd6
|
UTSW |
10 |
93,974,190 (GRCm39) |
nonsense |
probably null |
|
|
R5644:Fgd6
|
UTSW |
10 |
93,969,912 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6051:Fgd6
|
UTSW |
10 |
93,973,427 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6258:Fgd6
|
UTSW |
10 |
93,880,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6735:Fgd6
|
UTSW |
10 |
93,910,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7181:Fgd6
|
UTSW |
10 |
93,879,373 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7210:Fgd6
|
UTSW |
10 |
93,969,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7296:Fgd6
|
UTSW |
10 |
93,975,743 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7296:Fgd6
|
UTSW |
10 |
93,879,909 (GRCm39) |
nonsense |
probably null |
|
|
R7697:Fgd6
|
UTSW |
10 |
93,881,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7747:Fgd6
|
UTSW |
10 |
93,880,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Fgd6
|
UTSW |
10 |
93,939,193 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7940:Fgd6
|
UTSW |
10 |
93,956,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8022:Fgd6
|
UTSW |
10 |
93,880,206 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8138:Fgd6
|
UTSW |
10 |
93,970,005 (GRCm39) |
missense |
probably null |
0.45 |
|
R8171:Fgd6
|
UTSW |
10 |
93,910,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8189:Fgd6
|
UTSW |
10 |
93,910,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8960:Fgd6
|
UTSW |
10 |
93,880,868 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8981:Fgd6
|
UTSW |
10 |
93,880,916 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8989:Fgd6
|
UTSW |
10 |
93,959,425 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9609:Fgd6
|
UTSW |
10 |
93,879,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF031:Fgd6
|
UTSW |
10 |
93,880,187 (GRCm39) |
frame shift |
probably null |
|
|
RF040:Fgd6
|
UTSW |
10 |
93,880,187 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGATCACCTTGTGGTTC -3'
(R):5'- GTATCTACATGCTTCTGGCGGC -3'
Sequencing Primer
(F):5'- GATCACCTTGTGGTTCCCCGG -3'
(R):5'- CGAAGACGAGCAGCTGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation