Incidental Mutation 'IGL01328:Fign'
| ID |
74396 |
| 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 # |
IGL01328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
63801852-63928382 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63809216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 685
(T685A)
|
| 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: T685A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: T685A
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
C |
T |
18: 59,181,954 (GRCm39) |
S1131F |
possibly damaging |
Het |
| Alg14 |
G |
A |
3: 121,155,232 (GRCm39) |
V151I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,206,019 (GRCm39) |
|
probably null |
Het |
| Arhgef28 |
A |
T |
13: 98,106,831 (GRCm39) |
C698S |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,354,637 (GRCm39) |
H247R |
probably damaging |
Het |
| Clec12b |
A |
T |
6: 129,356,517 (GRCm39) |
W216R |
probably damaging |
Het |
| Clnk |
C |
T |
5: 38,941,871 (GRCm39) |
S35N |
possibly damaging |
Het |
| Cnot4 |
T |
A |
6: 35,055,049 (GRCm39) |
N80I |
probably damaging |
Het |
| Cntn5 |
C |
T |
9: 9,781,773 (GRCm39) |
M635I |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,252,419 (GRCm39) |
V107A |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,181,343 (GRCm39) |
F155I |
probably damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,006,739 (GRCm39) |
I254V |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,792,621 (GRCm39) |
D221E |
probably damaging |
Het |
| F13b |
T |
A |
1: 139,435,820 (GRCm39) |
|
probably benign |
Het |
| Fam131b |
G |
A |
6: 42,295,206 (GRCm39) |
L324F |
probably damaging |
Het |
| Fam83a |
A |
T |
15: 57,849,901 (GRCm39) |
R148S |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,447,729 (GRCm39) |
I236V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,807 (GRCm39) |
F2820I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,944,140 (GRCm39) |
V1011E |
probably damaging |
Het |
| Fgf7 |
A |
G |
2: 125,930,164 (GRCm39) |
E99G |
probably damaging |
Het |
| Fubp1 |
G |
A |
3: 151,925,855 (GRCm39) |
G289E |
probably damaging |
Het |
| Gata6 |
G |
T |
18: 11,064,530 (GRCm39) |
M477I |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,673 (GRCm39) |
Y249C |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,807,904 (GRCm39) |
D1768G |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,420,697 (GRCm39) |
|
probably null |
Het |
| Irs2 |
C |
A |
8: 11,054,792 (GRCm39) |
Q1213H |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,132,264 (GRCm39) |
R210C |
probably damaging |
Het |
| Klk1b27 |
T |
C |
7: 43,705,303 (GRCm39) |
S157P |
probably damaging |
Het |
| Klri1 |
T |
C |
6: 129,675,800 (GRCm39) |
S157G |
probably damaging |
Het |
| Mtmr2 |
G |
T |
9: 13,713,223 (GRCm39) |
G395* |
probably null |
Het |
| Mx1 |
T |
A |
16: 97,256,832 (GRCm39) |
I116F |
probably damaging |
Het |
| Oip5 |
A |
C |
2: 119,442,314 (GRCm39) |
M200R |
possibly damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,925 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Or10g3 |
T |
C |
14: 52,609,967 (GRCm39) |
D181G |
probably damaging |
Het |
| Or4b1d |
T |
C |
2: 89,969,418 (GRCm39) |
K22E |
probably benign |
Het |
| Or4k39 |
A |
G |
2: 111,239,564 (GRCm39) |
Y268C |
probably damaging |
Het |
| Pamr1 |
T |
A |
2: 102,472,482 (GRCm39) |
S594T |
probably benign |
Het |
| Phf13 |
C |
T |
4: 152,080,285 (GRCm39) |
E13K |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,200,074 (GRCm39) |
|
probably null |
Het |
| Rad17 |
A |
C |
13: 100,754,311 (GRCm39) |
N636K |
probably benign |
Het |
| Rad21 |
T |
A |
15: 51,836,520 (GRCm39) |
D217V |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,885,917 (GRCm39) |
D4G |
possibly damaging |
Het |
| Stc1 |
A |
G |
14: 69,275,726 (GRCm39) |
D173G |
probably benign |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,061,424 (GRCm39) |
Q559* |
probably null |
Het |
| Trim44 |
T |
A |
2: 102,230,365 (GRCm39) |
E222V |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,981,767 (GRCm39) |
E2343G |
possibly damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,288,365 (GRCm39) |
T379A |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,545,819 (GRCm39) |
T564A |
probably benign |
Het |
| Vsir |
C |
A |
10: 60,203,539 (GRCm39) |
|
probably benign |
Het |
| Vwc2l |
T |
A |
1: 70,768,163 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
T |
C |
2: 146,871,850 (GRCm39) |
V396A |
possibly damaging |
Het |
| Zbbx |
T |
A |
3: 75,000,382 (GRCm39) |
K208* |
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,309,344 (GRCm39) |
L857M |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,800,904 (GRCm39) |
D53G |
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 |
|
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 |
2013-10-07 |
Incidental Mutation