Incidental Mutation 'IGL01448:Fign'
ID 84520
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) question?
Stock # IGL01448
Quality Score
Status
Chromosome 2
Chromosomal Location 63801852-63928382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63810032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 413 (S413P)
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 damaging
Transcript: ENSMUST00000131615
AA Change: S413P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: S413P

DomainStartEndE-ValueType
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Fign
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2013-11-11