Incidental Mutation 'IGL03109:Fign'
ID |
419119 |
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 # |
IGL03109
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
63801852-63928382 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63811006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 88
(L88P)
|
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 |
possibly damaging
Transcript: ENSMUST00000131615
AA Change: L88P
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122855 Gene: ENSMUSG00000075324 AA Change: L88P
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,473,628 (GRCm39) |
S96R |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,071,173 (GRCm39) |
H1506L |
probably damaging |
Het |
Adgrg1 |
T |
A |
8: 95,734,304 (GRCm39) |
|
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,846,841 (GRCm39) |
T424A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,886,329 (GRCm39) |
S552R |
possibly damaging |
Het |
Bptf |
T |
C |
11: 106,952,527 (GRCm39) |
T2172A |
possibly damaging |
Het |
Commd9 |
T |
C |
2: 101,727,515 (GRCm39) |
V103A |
probably benign |
Het |
Ctnnal1 |
T |
A |
4: 56,839,045 (GRCm39) |
D216V |
probably damaging |
Het |
Dcbld2 |
A |
G |
16: 58,276,765 (GRCm39) |
T519A |
probably benign |
Het |
Dennd6b |
T |
C |
15: 89,069,188 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,841,950 (GRCm39) |
T1369A |
probably benign |
Het |
Ect2 |
T |
C |
3: 27,199,121 (GRCm39) |
T222A |
possibly damaging |
Het |
Eef2k |
G |
A |
7: 120,490,949 (GRCm39) |
G523E |
probably damaging |
Het |
Ephb2 |
T |
G |
4: 136,498,855 (GRCm39) |
T75P |
probably damaging |
Het |
Exo1 |
A |
T |
1: 175,727,126 (GRCm39) |
N479I |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,735,973 (GRCm39) |
V1740E |
possibly damaging |
Het |
Icos |
A |
G |
1: 61,036,856 (GRCm39) |
|
probably benign |
Het |
Il6ra |
C |
A |
3: 89,784,165 (GRCm39) |
G369* |
probably null |
Het |
Itpr1 |
A |
G |
6: 108,394,942 (GRCm39) |
D83G |
probably damaging |
Het |
Kdm2a |
A |
G |
19: 4,379,135 (GRCm39) |
I560T |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,402,514 (GRCm39) |
R2219H |
probably benign |
Het |
Mical3 |
A |
T |
6: 120,986,085 (GRCm39) |
C119S |
probably damaging |
Het |
Mipol1 |
G |
A |
12: 57,411,010 (GRCm39) |
R267H |
probably benign |
Het |
Myrip |
A |
T |
9: 120,282,790 (GRCm39) |
|
probably null |
Het |
Nelfb |
G |
A |
2: 25,091,073 (GRCm39) |
L542F |
possibly damaging |
Het |
Nlrp4b |
T |
C |
7: 10,448,873 (GRCm39) |
C359R |
probably damaging |
Het |
Noxred1 |
T |
A |
12: 87,280,212 (GRCm39) |
H40L |
probably damaging |
Het |
Nphp1 |
A |
T |
2: 127,610,089 (GRCm39) |
|
probably benign |
Het |
Or14j8 |
C |
T |
17: 38,263,378 (GRCm39) |
C179Y |
probably damaging |
Het |
Pank3 |
T |
A |
11: 35,668,501 (GRCm39) |
F163L |
probably benign |
Het |
Pde10a |
T |
C |
17: 9,148,046 (GRCm39) |
|
probably null |
Het |
Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
Rfc3 |
A |
G |
5: 151,566,559 (GRCm39) |
S297P |
probably benign |
Het |
Serinc1 |
A |
T |
10: 57,399,165 (GRCm39) |
M246K |
probably benign |
Het |
Slc5a8 |
C |
T |
10: 88,742,278 (GRCm39) |
|
probably benign |
Het |
Tecrl |
A |
G |
5: 83,457,156 (GRCm39) |
|
probably benign |
Het |
Tex14 |
A |
T |
11: 87,434,191 (GRCm39) |
E119V |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,683,224 (GRCm39) |
K669R |
probably damaging |
Het |
Tnfrsf4 |
C |
A |
4: 156,099,868 (GRCm39) |
H130Q |
probably damaging |
Het |
Trav18 |
G |
A |
14: 54,069,008 (GRCm39) |
A18T |
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 |
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 |
2016-08-02 |