Incidental Mutation 'R7642:Fign'
| ID |
590279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fign
|
| Ensembl Gene |
ENSMUSG00000075324 |
| Gene Name |
fidgetin |
| Synonyms |
Fgn |
| MMRRC Submission |
045645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7642 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
63801852-63928382 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63810916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 118
(V118A)
|
| 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: V118A
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: V118A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,613,540 (GRCm39) |
S680P |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,251,189 (GRCm39) |
T844A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,659,512 (GRCm39) |
D781E |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,638 (GRCm39) |
M537V |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,415,248 (GRCm39) |
M1497T |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,135,192 (GRCm39) |
I1655F |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,716,589 (GRCm39) |
S16P |
probably benign |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,084 (GRCm39) |
Y424C |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,672,741 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,248,125 (GRCm39) |
|
probably null |
Het |
| Dpp4 |
A |
G |
2: 62,190,627 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
G |
15: 71,350,991 (GRCm39) |
N295T |
possibly damaging |
Het |
| Gpr108 |
A |
T |
17: 57,543,228 (GRCm39) |
Y480* |
probably null |
Het |
| Ky |
T |
C |
9: 102,419,469 (GRCm39) |
V492A |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrrc30 |
C |
T |
17: 67,939,472 (GRCm39) |
G36E |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,452,466 (GRCm39) |
V452A |
probably benign |
Het |
| Mks1 |
C |
T |
11: 87,747,666 (GRCm39) |
T183M |
possibly damaging |
Het |
| Mpg |
G |
A |
11: 32,179,517 (GRCm39) |
|
probably null |
Het |
| Nat10 |
A |
G |
2: 103,557,131 (GRCm39) |
L841P |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,316,386 (GRCm39) |
E1863G |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Nr2e3 |
T |
A |
9: 59,854,671 (GRCm39) |
I292F |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,163,285 (GRCm39) |
Y246C |
probably damaging |
Het |
| Or1o3 |
A |
T |
17: 37,573,964 (GRCm39) |
M197K |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,313,823 (GRCm39) |
F44S |
probably damaging |
Het |
| Or5ac15 |
T |
G |
16: 58,940,011 (GRCm39) |
T141P |
possibly damaging |
Het |
| Or5h26 |
A |
G |
16: 58,988,080 (GRCm39) |
V142A |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,660 (GRCm39) |
L166* |
probably null |
Het |
| Pcdha5 |
T |
A |
18: 37,093,544 (GRCm39) |
F18I |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,779 (GRCm39) |
K190E |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Ppm1g |
G |
T |
5: 31,362,447 (GRCm39) |
Y284* |
probably null |
Het |
| Rp1 |
A |
G |
1: 4,218,054 (GRCm39) |
V1026A |
unknown |
Het |
| Scap |
C |
T |
9: 110,203,081 (GRCm39) |
R252C |
probably damaging |
Het |
| Scn9a |
C |
A |
2: 66,366,580 (GRCm39) |
K734N |
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,682,471 (GRCm39) |
S955F |
probably damaging |
Het |
| Serpinb10 |
A |
G |
1: 107,456,831 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Sh2d5 |
A |
G |
4: 137,986,467 (GRCm39) |
T397A |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,587,409 (GRCm39) |
F490L |
probably benign |
Het |
| Tbc1d19 |
A |
T |
5: 54,014,260 (GRCm39) |
Y296F |
probably damaging |
Het |
| Tmppe |
T |
C |
9: 114,233,862 (GRCm39) |
S54P |
possibly damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,795 (GRCm39) |
N229I |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,987,624 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
T |
A |
3: 108,550,480 (GRCm39) |
M835K |
possibly damaging |
Het |
| Wscd2 |
A |
T |
5: 113,715,475 (GRCm39) |
K438N |
possibly damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,900,678 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
T |
A |
9: 95,903,906 (GRCm39) |
F1148I |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,346 (GRCm39) |
D722G |
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 |
|
|
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 |
|
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'- TGAAGACTAGGTACTGTGTGGC -3'
(R):5'- GTCATTTACAGCGCACCTACC -3'
Sequencing Primer
(F):5'- GGCTTCCACAGGTACTACTTGAG -3'
(R):5'- GGCGAATGATGACATATCTGCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation