Incidental Mutation 'R6858:Fign'
| ID |
535353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fign
|
| Ensembl Gene |
ENSMUSG00000075324 |
| Gene Name |
fidgetin |
| Synonyms |
Fgn |
| MMRRC Submission |
044960-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
63801852-63928382 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 63810157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 371
(T371K)
|
| 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 |
probably benign
Transcript: ENSMUST00000131615
AA Change: T371K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: T371K
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
96% (49/51) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldob |
T |
C |
4: 49,538,796 (GRCm39) |
T241A |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,070,283 (GRCm39) |
I65V |
probably benign |
Het |
| Bhmt2 |
C |
T |
13: 93,807,948 (GRCm39) |
E47K |
probably damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,979,514 (GRCm39) |
G213D |
probably benign |
Het |
| C4b |
C |
G |
17: 34,948,805 (GRCm39) |
A1548P |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,874,017 (GRCm39) |
V605A |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,420,195 (GRCm39) |
|
probably null |
Het |
| Cntrl |
T |
C |
2: 35,052,107 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,385,144 (GRCm39) |
D87G |
probably damaging |
Het |
| Crim1 |
A |
T |
17: 78,623,056 (GRCm39) |
E418V |
probably damaging |
Het |
| Crtac1 |
T |
C |
19: 42,307,174 (GRCm39) |
I196M |
possibly damaging |
Het |
| Crtap |
T |
C |
9: 114,209,084 (GRCm39) |
Y320C |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,452 (GRCm39) |
V27A |
probably damaging |
Het |
| Cyp2c69 |
G |
A |
19: 39,866,009 (GRCm39) |
L195F |
probably benign |
Het |
| Cyp2d26 |
G |
A |
15: 82,678,284 (GRCm39) |
R31C |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,222,375 (GRCm39) |
T2069A |
probably damaging |
Het |
| Gm3486 |
A |
G |
14: 41,210,322 (GRCm39) |
I53T |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,313 (GRCm39) |
N198S |
possibly damaging |
Het |
| Ighv1-42 |
A |
G |
12: 114,900,966 (GRCm39) |
S40P |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,204,892 (GRCm39) |
V515A |
probably benign |
Het |
| Kidins220 |
A |
T |
12: 25,058,542 (GRCm39) |
I523L |
possibly damaging |
Het |
| Lmx1a |
A |
T |
1: 167,660,450 (GRCm39) |
N245I |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,795,949 (GRCm39) |
D157G |
possibly damaging |
Het |
| Ola1 |
T |
C |
2: 72,927,574 (GRCm39) |
H335R |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,925 (GRCm39) |
M199L |
probably benign |
Het |
| Or4c12 |
A |
G |
2: 89,774,087 (GRCm39) |
I124T |
probably damaging |
Het |
| Or6c213 |
A |
G |
10: 129,574,333 (GRCm39) |
F151S |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,765 (GRCm39) |
I214T |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,034 (GRCm39) |
I256T |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,959,502 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,198,219 (GRCm39) |
G304D |
probably benign |
Het |
| Potegl |
T |
C |
2: 23,102,676 (GRCm39) |
V138A |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,095,470 (GRCm39) |
C325S |
possibly damaging |
Het |
| Ptk2b |
T |
C |
14: 66,450,847 (GRCm39) |
I40V |
probably damaging |
Het |
| Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,156 (GRCm39) |
I1469V |
probably benign |
Het |
| Serpina3k |
G |
A |
12: 104,311,504 (GRCm39) |
A361T |
possibly damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,365,171 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tmco3 |
A |
G |
8: 13,363,924 (GRCm39) |
D82G |
probably damaging |
Het |
| Trbv28 |
G |
T |
6: 41,248,624 (GRCm39) |
M51I |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,165,828 (GRCm39) |
H204L |
possibly damaging |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn1r25 |
T |
C |
6: 57,955,996 (GRCm39) |
S98G |
probably benign |
Het |
| Vmn2r2 |
A |
G |
3: 64,044,915 (GRCm39) |
F77S |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,580 (GRCm39) |
M654L |
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,764 (GRCm39) |
K211* |
probably null |
Het |
| Zwilch |
C |
T |
9: 64,060,869 (GRCm39) |
D328N |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGTGCTCACTCATGACTG -3'
(R):5'- ATGGTTTGACACCCATTGCAC -3'
Sequencing Primer
(F):5'- TCATGACTGGCGACGTATAC -3'
(R):5'- TCTGCTCTGACCAACAATTCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation