Incidental Mutation 'R7181:Fgd6'
| ID |
558988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd6
|
| Ensembl Gene |
ENSMUSG00000020021 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 6 |
| Synonyms |
Etohd4, ZFYVE24 |
| MMRRC Submission |
045270-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.413)
|
| Stock # |
R7181 (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 G
at 93879373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 76
(T76A)
|
| 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: T76A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: T76A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,188,037 (GRCm39) |
N182D |
probably benign |
Het |
| Adgrl1 |
A |
G |
8: 84,652,878 (GRCm39) |
|
probably null |
Het |
| Adm |
T |
C |
7: 110,228,236 (GRCm39) |
I139T |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,852 (GRCm39) |
K4045N |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,392,752 (GRCm39) |
S344R |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,306,691 (GRCm39) |
S1896G |
probably benign |
Het |
| Cd209c |
A |
G |
8: 3,995,712 (GRCm39) |
V30A |
probably benign |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
A |
T |
8: 99,825,557 (GRCm39) |
M520K |
probably benign |
Het |
| Cyp2b23 |
G |
A |
7: 26,373,828 (GRCm39) |
T306I |
probably damaging |
Het |
| Dnajc10 |
T |
G |
2: 80,149,587 (GRCm39) |
Y96* |
probably null |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Elmod1 |
A |
C |
9: 53,841,382 (GRCm39) |
|
probably null |
Het |
| Eva1b |
A |
G |
4: 126,043,446 (GRCm39) |
H162R |
possibly damaging |
Het |
| Fam222b |
A |
T |
11: 78,045,804 (GRCm39) |
N455I |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,447,146 (GRCm39) |
A626T |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,788,640 (GRCm39) |
|
probably null |
Het |
| Gabrg2 |
T |
A |
11: 41,811,261 (GRCm39) |
I295F |
probably damaging |
Het |
| Gm10406 |
A |
T |
14: 7,027,359 (GRCm38) |
|
probably null |
Het |
| Gm47189 |
T |
C |
14: 41,492,059 (GRCm39) |
M73V |
probably benign |
Het |
| Gm9758 |
A |
T |
5: 14,963,667 (GRCm39) |
S54T |
probably damaging |
Het |
| Gm9857 |
A |
G |
3: 108,847,554 (GRCm39) |
S70P |
unknown |
Het |
| Gsap |
A |
T |
5: 21,458,427 (GRCm39) |
E470D |
probably damaging |
Het |
| Hesx1 |
T |
A |
14: 26,722,678 (GRCm39) |
M1K |
probably null |
Het |
| Hirip3 |
A |
G |
7: 126,463,235 (GRCm39) |
D397G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 33,983,447 (GRCm39) |
N13I |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,803,706 (GRCm39) |
S194T |
possibly damaging |
Het |
| Mrps35 |
T |
G |
6: 146,957,491 (GRCm39) |
|
probably null |
Het |
| Myrfl |
G |
T |
10: 116,697,448 (GRCm39) |
N25K |
probably damaging |
Het |
| Or51b6b |
C |
A |
7: 103,310,020 (GRCm39) |
G146C |
probably damaging |
Het |
| Or7a41 |
A |
G |
10: 78,871,287 (GRCm39) |
Y219C |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,626 (GRCm39) |
I41N |
possibly damaging |
Het |
| Phf14 |
A |
T |
6: 11,933,340 (GRCm39) |
E67D |
unknown |
Het |
| Prdm16 |
C |
T |
4: 154,613,094 (GRCm39) |
G111D |
probably damaging |
Het |
| Prex1 |
G |
A |
2: 166,412,291 (GRCm39) |
A1568V |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,214,325 (GRCm39) |
T1692I |
unknown |
Het |
| Ptprb |
C |
T |
10: 116,204,671 (GRCm39) |
S1835L |
probably damaging |
Het |
| Rbm19 |
G |
A |
5: 120,254,532 (GRCm39) |
|
probably benign |
Het |
| Rgs7bp |
T |
A |
13: 105,119,382 (GRCm39) |
H152L |
possibly damaging |
Het |
| Rmdn3 |
A |
T |
2: 118,969,849 (GRCm39) |
L404Q |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,023,144 (GRCm39) |
F1148I |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sec24c |
C |
A |
14: 20,739,401 (GRCm39) |
H559N |
probably damaging |
Het |
| Sephs2 |
T |
C |
7: 126,872,992 (GRCm39) |
S34G |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,613,203 (GRCm39) |
S366T |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,378,052 (GRCm39) |
E248D |
probably benign |
Het |
| Sesn1 |
G |
T |
10: 41,779,724 (GRCm39) |
R386L |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,602 (GRCm39) |
S430G |
unknown |
Het |
| Slc28a2 |
A |
T |
2: 122,282,462 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
T |
C |
3: 135,563,299 (GRCm39) |
F203S |
possibly damaging |
Het |
| Svip |
A |
G |
7: 51,653,177 (GRCm39) |
S46P |
possibly damaging |
Het |
| Tbx21 |
T |
A |
11: 96,989,923 (GRCm39) |
D423V |
probably benign |
Het |
| Tcirg1 |
G |
A |
19: 3,953,576 (GRCm39) |
A117V |
probably null |
Het |
| Tmem63b |
T |
A |
17: 45,984,094 (GRCm39) |
K258N |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,685,600 (GRCm39) |
N951S |
probably damaging |
Het |
| Uba2 |
G |
T |
7: 33,840,854 (GRCm39) |
D591E |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,258,893 (GRCm39) |
R1356W |
probably damaging |
Het |
| Wasf3 |
A |
G |
5: 146,403,615 (GRCm39) |
T242A |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,650,709 (GRCm39) |
L12P |
probably damaging |
Het |
| Zfp770 |
T |
C |
2: 114,027,872 (GRCm39) |
K66E |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,182 (GRCm39) |
D1431E |
probably benign |
Het |
| Zhx2 |
G |
A |
15: 57,686,746 (GRCm39) |
R705H |
probably benign |
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 |
|
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 |
|
R8213:Fgd6
|
UTSW |
10 |
93,879,914 (GRCm39) |
missense |
probably benign |
0.37 |
|
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'- TCCCAAGCCAAAGTTAGTGGG -3'
(R):5'- GCTTGAATCCCAGCTACTCC -3'
Sequencing Primer
(F):5'- GGGACCAATAATAAGCCACCTC -3'
(R):5'- AGAGGCTCTAAAACAAGCTGCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation