Incidental Mutation 'IGL01020:Fign'
| ID |
53454 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fign
|
| Ensembl Gene |
ENSMUSG00000075324 |
| Gene Name |
fidgetin |
| Synonyms |
Fgn |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01020
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
63801852-63928382 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63809354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 639
(S639P)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000126042
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131615
AA Change: S639P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: S639P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153538
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
T |
G |
1: 176,958,533 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,557,625 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,657 (GRCm39) |
H880R |
probably benign |
Het |
| Arhgef7 |
G |
A |
8: 11,832,540 (GRCm39) |
S5N |
probably damaging |
Het |
| Atp6v1e1 |
T |
C |
6: 120,785,372 (GRCm39) |
M40V |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,744,836 (GRCm39) |
V51A |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,259,623 (GRCm39) |
|
probably null |
Het |
| Btbd16 |
T |
A |
7: 130,426,091 (GRCm39) |
I502N |
probably damaging |
Het |
| Celsr2 |
G |
T |
3: 108,310,586 (GRCm39) |
L1499M |
probably damaging |
Het |
| Cfl1 |
C |
T |
19: 5,543,709 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,849,949 (GRCm39) |
E500G |
probably damaging |
Het |
| Dusp3 |
G |
T |
11: 101,875,470 (GRCm39) |
N31K |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,337,608 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
G |
A |
6: 135,188,904 (GRCm39) |
V170M |
probably benign |
Het |
| Gbp7 |
A |
G |
3: 142,248,618 (GRCm39) |
T294A |
probably benign |
Het |
| Golm2 |
G |
A |
2: 121,756,203 (GRCm39) |
V411I |
probably benign |
Het |
| Ift80 |
C |
T |
3: 68,871,012 (GRCm39) |
D195N |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,081,832 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
A |
T |
4: 117,024,101 (GRCm39) |
F397I |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,804,668 (GRCm39) |
V567A |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,369,640 (GRCm39) |
M36T |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,888,259 (GRCm39) |
W2220R |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,914,283 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,973 (GRCm39) |
D691G |
possibly damaging |
Het |
| Myh8 |
G |
A |
11: 67,174,229 (GRCm39) |
V189M |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,804,644 (GRCm39) |
R1418K |
probably benign |
Het |
| Nkpd1 |
G |
A |
7: 19,252,674 (GRCm39) |
V7M |
possibly damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,543,473 (GRCm39) |
V1116I |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,105,905 (GRCm39) |
M875V |
probably benign |
Het |
| Oat |
T |
C |
7: 132,168,902 (GRCm39) |
|
probably null |
Het |
| Or7g35 |
G |
A |
9: 19,496,616 (GRCm39) |
S261N |
possibly damaging |
Het |
| Or8g24 |
A |
C |
9: 38,989,747 (GRCm39) |
I98R |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,932,659 (GRCm39) |
R63Q |
probably damaging |
Het |
| Psg29 |
T |
A |
7: 16,942,657 (GRCm39) |
S219R |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,047,911 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
G |
T |
7: 138,834,771 (GRCm39) |
E71* |
probably null |
Het |
| Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,974,845 (GRCm39) |
N103Y |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,874,171 (GRCm39) |
E10G |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,432,903 (GRCm39) |
Q438* |
probably null |
Het |
| Thnsl1 |
T |
C |
2: 21,217,305 (GRCm39) |
L353S |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,146,612 (GRCm39) |
|
probably null |
Het |
| Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,702 (GRCm39) |
I108T |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,967 (GRCm39) |
N190S |
possibly damaging |
Het |
|
| Other mutations in Fign |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R7309:Fign
|
UTSW |
2 |
63,810,301 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation