Incidental Mutation 'R9235:Fign'
| ID |
700403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fign
|
| Ensembl Gene |
ENSMUSG00000075324 |
| Gene Name |
fidgetin |
| Synonyms |
Fgn |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9235 (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 63810907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 121
(M121T)
|
| 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 damaging
Transcript: ENSMUST00000131615
AA Change: M121T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: M121T
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,623,518 (GRCm39) |
I76N |
possibly damaging |
Het |
| 4930558K02Rik |
T |
C |
1: 161,780,172 (GRCm39) |
H114R |
possibly damaging |
Het |
| C2 |
T |
C |
17: 35,083,845 (GRCm39) |
D414G |
probably damaging |
Het |
| Catsper4 |
C |
T |
4: 133,954,606 (GRCm39) |
D15N |
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,318,163 (GRCm39) |
V203A |
probably damaging |
Het |
| Cd2 |
A |
G |
3: 101,195,159 (GRCm39) |
F13L |
probably benign |
Het |
| Cwf19l1 |
G |
A |
19: 44,113,275 (GRCm39) |
A227V |
probably damaging |
Het |
| Dis3l2 |
G |
A |
1: 86,749,061 (GRCm39) |
D176N |
possibly damaging |
Het |
| Dmpk |
T |
G |
7: 18,822,141 (GRCm39) |
N366K |
probably damaging |
Het |
| Dnajb12 |
C |
T |
10: 59,728,799 (GRCm39) |
T229I |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,907,987 (GRCm39) |
D4479G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,833,674 (GRCm39) |
E126V |
probably null |
Het |
| Fbxo27 |
T |
A |
7: 28,397,756 (GRCm39) |
Y264* |
probably null |
Het |
| Flt3 |
T |
C |
5: 147,320,202 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Frmd4a |
G |
A |
2: 4,599,366 (GRCm39) |
R460H |
probably damaging |
Het |
| Igkv4-53 |
A |
T |
6: 69,626,301 (GRCm39) |
I13N |
possibly damaging |
Het |
| Islr |
T |
A |
9: 58,064,944 (GRCm39) |
I188F |
possibly damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Klra3 |
A |
T |
6: 130,311,218 (GRCm39) |
C54* |
probably null |
Het |
| Klrb1b |
A |
G |
6: 128,795,547 (GRCm39) |
F140S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,997 (GRCm39) |
E3437G |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,739,122 (GRCm39) |
L3648I |
probably benign |
Het |
| Mlxipl |
C |
A |
5: 135,157,541 (GRCm39) |
T359K |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,659,321 (GRCm39) |
W410R |
probably damaging |
Het |
| Mrpl49 |
G |
A |
19: 6,105,147 (GRCm39) |
R105* |
probably null |
Het |
| Myom3 |
T |
A |
4: 135,541,653 (GRCm39) |
Y1415N |
probably damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,330,760 (GRCm39) |
Y1100* |
probably null |
Het |
| Or14a257 |
A |
T |
7: 86,138,306 (GRCm39) |
V151E |
probably benign |
Het |
| Or5d43 |
A |
T |
2: 88,104,724 (GRCm39) |
I223N |
probably damaging |
Het |
| Or5t5 |
T |
C |
2: 86,616,548 (GRCm39) |
I158T |
probably benign |
Het |
| Or6c8b |
G |
T |
10: 128,882,051 (GRCm39) |
Q294K |
probably benign |
Het |
| Pank1 |
C |
A |
19: 34,856,197 (GRCm39) |
A94S |
probably benign |
Het |
| Pikfyve |
C |
A |
1: 65,299,188 (GRCm39) |
T1613K |
probably benign |
Het |
| Plbd2 |
T |
A |
5: 120,626,554 (GRCm39) |
I352L |
probably benign |
Het |
| Plec |
T |
C |
15: 76,059,701 (GRCm39) |
D3412G |
probably damaging |
Het |
| Plekhd1 |
T |
A |
12: 80,768,791 (GRCm39) |
Y425N |
possibly damaging |
Het |
| Plscr5 |
A |
G |
9: 92,086,417 (GRCm39) |
N129S |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,651,751 (GRCm39) |
M3796K |
probably damaging |
Het |
| Psme3 |
A |
T |
11: 101,211,594 (GRCm39) |
E213D |
possibly damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,233,271 (GRCm39) |
|
probably null |
Het |
| Sema5a |
A |
G |
15: 32,619,034 (GRCm39) |
S521G |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,226,667 (GRCm39) |
M597L |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,301,984 (GRCm39) |
R189G |
probably damaging |
Het |
| Smyd4 |
G |
A |
11: 75,295,689 (GRCm39) |
E782K |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,466,718 (GRCm39) |
C4078S |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Ttc21a |
G |
T |
9: 119,774,559 (GRCm39) |
R271L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,045,982 (GRCm39) |
L114P |
|
Het |
| Ugt1a2 |
A |
G |
1: 88,128,488 (GRCm39) |
R44G |
possibly damaging |
Het |
| Ulk4 |
G |
A |
9: 120,981,217 (GRCm39) |
T907I |
probably benign |
Het |
| Unc13a |
G |
T |
8: 72,115,912 (GRCm39) |
L97I |
probably benign |
Het |
| Uqcc6 |
A |
T |
10: 82,458,586 (GRCm39) |
C22S |
possibly damaging |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,488 (GRCm39) |
L267P |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,238 (GRCm39) |
N341K |
probably damaging |
Het |
| Wdr3 |
T |
A |
3: 100,054,023 (GRCm39) |
Q534L |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,397,605 (GRCm39) |
H680L |
probably damaging |
Het |
| Zfp986 |
T |
A |
4: 145,625,759 (GRCm39) |
F140I |
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 |
|
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 |
|
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'- CGTTGTATCCCGGAGCATATTC -3'
(R):5'- GACATATCTGCTCTGACTGCG -3'
Sequencing Primer
(F):5'- ATCCCGGAGCATATTCCTGAGATG -3'
(R):5'- GCTCTGACTGCGTCCAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation