Incidental Mutation 'IGL02252:Fign'
| ID |
286456 |
| 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 # |
IGL02252
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
63801852-63928382 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63810983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 96
(S96P)
|
| 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 benign
Transcript: ENSMUST00000131615
AA Change: S96P
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: S96P
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,444,678 (GRCm39) |
|
probably benign |
Het |
| Actl7b |
A |
T |
4: 56,741,205 (GRCm39) |
I51N |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,311,101 (GRCm39) |
I1119M |
probably benign |
Het |
| Apol10a |
T |
A |
15: 77,372,670 (GRCm39) |
V102D |
probably benign |
Het |
| Atrx |
T |
C |
X: 104,889,429 (GRCm39) |
E1628G |
possibly damaging |
Het |
| Btnl2 |
C |
T |
17: 34,584,364 (GRCm39) |
S429F |
possibly damaging |
Het |
| C4bp |
C |
A |
1: 130,564,524 (GRCm39) |
D387Y |
probably damaging |
Het |
| Ceacam23 |
G |
T |
7: 17,644,457 (GRCm39) |
V525F |
possibly damaging |
Het |
| Crybg3 |
G |
T |
16: 59,372,887 (GRCm39) |
|
probably benign |
Het |
| Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
| Efcab3 |
C |
A |
11: 104,644,753 (GRCm39) |
R1114S |
possibly damaging |
Het |
| Elp1 |
G |
T |
4: 56,759,813 (GRCm39) |
Q1151K |
probably benign |
Het |
| Ggt5 |
A |
G |
10: 75,438,566 (GRCm39) |
I96V |
possibly damaging |
Het |
| Gm3238 |
A |
G |
10: 77,606,691 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
G |
T |
10: 94,131,102 (GRCm39) |
P69Q |
unknown |
Het |
| Ighv1-58 |
A |
T |
12: 115,275,897 (GRCm39) |
N80K |
possibly damaging |
Het |
| Irgm1 |
C |
T |
11: 48,756,981 (GRCm39) |
G277S |
possibly damaging |
Het |
| Jsrp1 |
A |
G |
10: 80,644,707 (GRCm39) |
V233A |
probably benign |
Het |
| Kcp |
T |
A |
6: 29,504,548 (GRCm39) |
R85W |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,406,130 (GRCm39) |
Y565H |
probably damaging |
Het |
| Klk1b4 |
G |
A |
7: 43,860,094 (GRCm39) |
W69* |
probably null |
Het |
| Knl1 |
A |
T |
2: 118,903,021 (GRCm39) |
Q1574L |
probably damaging |
Het |
| Lao1 |
A |
G |
4: 118,824,613 (GRCm39) |
N232D |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,049,157 (GRCm39) |
I108V |
probably benign |
Het |
| Lrrc49 |
T |
A |
9: 60,595,142 (GRCm39) |
M1L |
probably benign |
Het |
| Matn2 |
G |
T |
15: 34,316,736 (GRCm39) |
R26L |
probably damaging |
Het |
| Mmp16 |
G |
A |
4: 18,110,523 (GRCm39) |
D440N |
probably damaging |
Het |
| Mn1 |
G |
A |
5: 111,569,107 (GRCm39) |
A1026T |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,984,912 (GRCm39) |
F256I |
probably benign |
Het |
| Msantd3 |
A |
C |
4: 48,560,869 (GRCm39) |
E148D |
probably benign |
Het |
| Mylk3 |
G |
T |
8: 86,082,105 (GRCm39) |
L361I |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,293,980 (GRCm39) |
S117P |
probably benign |
Het |
| Nsmaf |
T |
C |
4: 6,398,378 (GRCm39) |
E870G |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,188,964 (GRCm39) |
T320A |
probably damaging |
Het |
| Or5p50 |
C |
A |
7: 107,422,353 (GRCm39) |
A108S |
probably benign |
Het |
| Or7g34 |
T |
A |
9: 19,478,267 (GRCm39) |
I138F |
probably damaging |
Het |
| Pard3 |
T |
G |
8: 128,125,237 (GRCm39) |
S729A |
probably benign |
Het |
| Pdzd9 |
T |
C |
7: 120,262,238 (GRCm39) |
I75V |
probably benign |
Het |
| Pgf |
A |
G |
12: 85,216,199 (GRCm39) |
|
probably benign |
Het |
| Phf1 |
T |
A |
17: 27,154,109 (GRCm39) |
V140D |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,357,708 (GRCm39) |
S775P |
possibly damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,085,515 (GRCm39) |
T85S |
probably damaging |
Het |
| Sez6 |
T |
A |
11: 77,865,339 (GRCm39) |
Y659N |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,539,690 (GRCm39) |
L826P |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,471 (GRCm39) |
D316V |
probably damaging |
Het |
| Shc2 |
T |
C |
10: 79,462,204 (GRCm39) |
D313G |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,986,326 (GRCm39) |
Y232H |
probably damaging |
Het |
| Sntg1 |
G |
T |
1: 8,484,452 (GRCm39) |
P456Q |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,302,841 (GRCm39) |
N783K |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,300,810 (GRCm39) |
I923F |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,067,712 (GRCm39) |
H2168L |
possibly damaging |
Het |
| Tmem132c |
A |
T |
5: 127,539,991 (GRCm39) |
N339I |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,979,139 (GRCm39) |
T129A |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,785,994 (GRCm39) |
L664P |
probably damaging |
Het |
| Ubl5 |
C |
T |
9: 20,556,923 (GRCm39) |
R56* |
probably null |
Het |
| Ubox5 |
G |
A |
2: 130,441,707 (GRCm39) |
R327W |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 38,025,138 (GRCm39) |
A546E |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,982,717 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
C |
T |
17: 21,507,101 (GRCm39) |
T73I |
probably benign |
Het |
| Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,531 (GRCm39) |
Y272H |
probably benign |
Het |
| Wdr43 |
T |
A |
17: 71,933,845 (GRCm39) |
D147E |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,112,367 (GRCm39) |
D169V |
probably benign |
Het |
| Zim1 |
A |
T |
7: 6,691,627 (GRCm39) |
N15K |
unknown |
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 |
|
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 |
2015-04-16 |
Incidental Mutation