Incidental Mutation 'R7309:Fign'
ID |
567427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fign
|
Ensembl Gene |
ENSMUSG00000075324 |
Gene Name |
fidgetin |
Synonyms |
Fgn |
MMRRC Submission |
045408-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7309 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
63801852-63928382 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63810301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 323
(M323K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102728]
[ENSMUST00000131615]
|
AlphaFold |
Q9ERZ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102728
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131615
AA Change: M323K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122855 Gene: ENSMUSG00000075324 AA Change: M323K
Domain | Start | End | E-Value | Type |
low complexity region
|
204 |
235 |
N/A |
INTRINSIC |
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
low complexity region
|
259 |
291 |
N/A |
INTRINSIC |
AAA
|
518 |
654 |
7.03e-12 |
SMART |
Pfam:Vps4_C
|
708 |
756 |
2.1e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
94% (47/50) |
MGI Phenotype |
PHENOTYPE: Homozygotes for a reporter allele show pre- and postnatal death, head-shaking, and small eyes. Spontaneous mutants show head-shaking, circling, reduced or absent semicircular canals, small abnormal eyes, aberrant cell-cycling, female sterility, and low prenetrance craniofacial and skeletal defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
C |
5: 109,884,819 (GRCm39) |
H346Q |
probably damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,546,530 (GRCm39) |
I71L |
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,516,604 (GRCm39) |
S377P |
probably damaging |
Het |
Cldnd2 |
A |
G |
7: 43,091,133 (GRCm39) |
T22A |
possibly damaging |
Het |
Comp |
A |
T |
8: 70,826,328 (GRCm39) |
|
probably null |
Het |
Cop1 |
A |
G |
1: 159,134,195 (GRCm39) |
K446E |
probably damaging |
Het |
Cox18 |
T |
C |
5: 90,362,917 (GRCm39) |
T314A |
possibly damaging |
Het |
Csrp3 |
A |
G |
7: 48,485,317 (GRCm39) |
V60A |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,093,988 (GRCm39) |
Y4694F |
probably damaging |
Het |
Dnm1l |
A |
G |
16: 16,139,510 (GRCm39) |
Y493H |
probably damaging |
Het |
Esf1 |
A |
T |
2: 139,967,011 (GRCm39) |
|
probably null |
Het |
Fam187a |
T |
A |
11: 102,776,832 (GRCm39) |
V212E |
probably damaging |
Het |
Foxf2 |
A |
G |
13: 31,810,496 (GRCm39) |
K145R |
probably damaging |
Het |
Fxyd5 |
T |
C |
7: 30,734,829 (GRCm39) |
N133D |
probably benign |
Het |
Hnrnpdl |
A |
T |
5: 100,185,482 (GRCm39) |
L240* |
probably null |
Het |
Kcna7 |
T |
G |
7: 45,058,679 (GRCm39) |
F322C |
probably damaging |
Het |
Kcnj9 |
A |
G |
1: 172,153,825 (GRCm39) |
C100R |
probably damaging |
Het |
Lrrc14b |
C |
A |
13: 74,511,321 (GRCm39) |
C253F |
probably benign |
Het |
Map3k11 |
T |
C |
19: 5,740,486 (GRCm39) |
V71A |
probably damaging |
Het |
Med13 |
C |
A |
11: 86,181,888 (GRCm39) |
M1315I |
probably benign |
Het |
Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
Miox |
G |
T |
15: 89,220,252 (GRCm39) |
C148F |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,300,195 (GRCm39) |
|
probably null |
Het |
Mthfsd |
G |
A |
8: 121,835,070 (GRCm39) |
|
probably benign |
Het |
Myh15 |
G |
A |
16: 48,916,828 (GRCm39) |
A383T |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,200,670 (GRCm39) |
H117R |
probably benign |
Het |
Ntrk1 |
A |
T |
3: 87,702,384 (GRCm39) |
M23K |
probably benign |
Het |
Or14c45 |
T |
A |
7: 86,176,349 (GRCm39) |
L128H |
probably damaging |
Het |
Or4c3d |
T |
A |
2: 89,881,801 (GRCm39) |
N289I |
probably damaging |
Het |
Or8g21 |
T |
A |
9: 38,906,576 (GRCm39) |
S52C |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,374,893 (GRCm39) |
|
probably null |
Het |
Plcz1 |
A |
T |
6: 139,968,882 (GRCm39) |
D185E |
probably damaging |
Het |
Plekhg5 |
C |
A |
4: 152,196,985 (GRCm39) |
Q757K |
possibly damaging |
Het |
Prr23a2 |
T |
A |
9: 98,739,027 (GRCm39) |
D128E |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,416,712 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
T |
14: 31,100,246 (GRCm39) |
V221M |
probably benign |
Het |
Slc25a27 |
A |
T |
17: 43,975,083 (GRCm39) |
D59E |
probably benign |
Het |
Slc35e1 |
G |
C |
8: 73,246,358 (GRCm39) |
R25G |
unknown |
Het |
Slc4a4 |
T |
C |
5: 89,318,610 (GRCm39) |
V626A |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,847,529 (GRCm39) |
L138P |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,165,780 (GRCm39) |
|
probably null |
Het |
Tnks2 |
G |
T |
19: 36,829,936 (GRCm39) |
A206S |
probably damaging |
Het |
Trav7-1 |
C |
A |
14: 52,892,521 (GRCm39) |
Q25K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,728,670 (GRCm39) |
M5470T |
unknown |
Het |
Vps35 |
A |
T |
8: 86,001,596 (GRCm39) |
D407E |
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,079,676 (GRCm39) |
D190G |
probably benign |
Het |
Wdr93 |
T |
A |
7: 79,423,103 (GRCm39) |
F456I |
possibly damaging |
Het |
Wdr95 |
A |
G |
5: 149,529,758 (GRCm39) |
E675G |
probably benign |
Het |
|
Other mutations in Fign |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Fign
|
APN |
2 |
63,809,354 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01149:Fign
|
APN |
2 |
63,810,104 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01328:Fign
|
APN |
2 |
63,809,216 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01448:Fign
|
APN |
2 |
63,810,032 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01680:Fign
|
APN |
2 |
63,808,988 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01989:Fign
|
APN |
2 |
63,810,794 (GRCm39) |
missense |
probably benign |
|
IGL02010:Fign
|
APN |
2 |
63,810,744 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02092:Fign
|
APN |
2 |
63,810,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02252:Fign
|
APN |
2 |
63,810,983 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02455:Fign
|
APN |
2 |
63,810,841 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02541:Fign
|
APN |
2 |
63,809,881 (GRCm39) |
missense |
probably benign |
0.38 |
IGL03109:Fign
|
APN |
2 |
63,811,006 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0534:Fign
|
UTSW |
2 |
63,811,135 (GRCm39) |
missense |
probably damaging |
0.96 |
R0630:Fign
|
UTSW |
2 |
63,810,485 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1678:Fign
|
UTSW |
2 |
63,810,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R2512:Fign
|
UTSW |
2 |
63,810,143 (GRCm39) |
missense |
probably benign |
0.03 |
R3125:Fign
|
UTSW |
2 |
63,809,044 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4679:Fign
|
UTSW |
2 |
63,809,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R4735:Fign
|
UTSW |
2 |
63,810,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R4753:Fign
|
UTSW |
2 |
63,809,363 (GRCm39) |
missense |
probably benign |
0.04 |
R5071:Fign
|
UTSW |
2 |
63,810,037 (GRCm39) |
nonsense |
probably null |
|
R5072:Fign
|
UTSW |
2 |
63,810,037 (GRCm39) |
nonsense |
probably null |
|
R5073:Fign
|
UTSW |
2 |
63,810,037 (GRCm39) |
nonsense |
probably null |
|
R5074:Fign
|
UTSW |
2 |
63,810,037 (GRCm39) |
nonsense |
probably null |
|
R5344:Fign
|
UTSW |
2 |
63,809,569 (GRCm39) |
missense |
probably benign |
0.01 |
R5427:Fign
|
UTSW |
2 |
63,809,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R5922:Fign
|
UTSW |
2 |
63,809,404 (GRCm39) |
missense |
probably damaging |
0.99 |
R6115:Fign
|
UTSW |
2 |
63,809,654 (GRCm39) |
missense |
probably benign |
0.22 |
R6373:Fign
|
UTSW |
2 |
63,809,989 (GRCm39) |
missense |
probably benign |
0.06 |
R6542:Fign
|
UTSW |
2 |
63,810,639 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6637:Fign
|
UTSW |
2 |
63,858,252 (GRCm39) |
intron |
probably benign |
|
R6858:Fign
|
UTSW |
2 |
63,810,157 (GRCm39) |
missense |
probably benign |
0.02 |
R7188:Fign
|
UTSW |
2 |
63,809,950 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7429:Fign
|
UTSW |
2 |
63,809,404 (GRCm39) |
missense |
probably damaging |
0.99 |
R7430:Fign
|
UTSW |
2 |
63,809,404 (GRCm39) |
missense |
probably damaging |
0.99 |
R7608:Fign
|
UTSW |
2 |
63,809,063 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7642:Fign
|
UTSW |
2 |
63,810,916 (GRCm39) |
missense |
probably benign |
0.16 |
R7782:Fign
|
UTSW |
2 |
63,809,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R8775:Fign
|
UTSW |
2 |
63,810,891 (GRCm39) |
missense |
probably benign |
0.32 |
R8775-TAIL:Fign
|
UTSW |
2 |
63,810,891 (GRCm39) |
missense |
probably benign |
0.32 |
R8939:Fign
|
UTSW |
2 |
63,809,456 (GRCm39) |
missense |
probably benign |
0.37 |
R9235:Fign
|
UTSW |
2 |
63,810,907 (GRCm39) |
missense |
probably damaging |
0.98 |
R9496:Fign
|
UTSW |
2 |
63,809,253 (GRCm39) |
nonsense |
probably null |
|
R9609:Fign
|
UTSW |
2 |
63,810,286 (GRCm39) |
missense |
probably benign |
0.11 |
X0028:Fign
|
UTSW |
2 |
63,811,195 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Fign
|
UTSW |
2 |
63,927,246 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Fign
|
UTSW |
2 |
63,810,034 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Fign
|
UTSW |
2 |
63,809,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCTTTGCTGCTCAGAGG -3'
(R):5'- AGCTATCCTCCTCAGACTGC -3'
Sequencing Primer
(F):5'- CTTTGCTGCTCAGAGGGCATC -3'
(R):5'- TCCTCAGACTGCCGTGG -3'
|
Posted On |
2019-06-26 |