Incidental Mutation 'R6115:Fign'
ID 485058
Institutional Source Beutler Lab
Gene Symbol Fign
Ensembl Gene ENSMUSG00000075324
Gene Name fidgetin
Synonyms Fgn
MMRRC Submission 044264-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6115 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 63801852-63928382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63809654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 539 (I539V)
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: I539V

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: I539V

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
Meta Mutation Damage Score 0.1011 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (51/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C G 5: 64,055,317 (GRCm39) Q18E probably damaging Het
Acsf3 T A 8: 123,517,411 (GRCm39) H402Q probably damaging Het
Adam34 T G 8: 44,105,098 (GRCm39) Q182H probably benign Het
Alx1 G A 10: 102,864,304 (GRCm39) P55L possibly damaging Het
Arhgef38 A T 3: 132,838,374 (GRCm39) probably null Het
Ccdc102a T C 8: 95,629,999 (GRCm39) N514S probably benign Het
Corin T A 5: 72,518,072 (GRCm39) T317S probably damaging Het
Ctnna2 A G 6: 77,613,822 (GRCm39) V256A probably benign Het
Dhx29 A T 13: 113,089,335 (GRCm39) probably null Het
Dnah2 C A 11: 69,337,475 (GRCm39) D3209Y probably damaging Het
Dnhd1 A G 7: 105,363,194 (GRCm39) T3919A probably benign Het
F7 T A 8: 13,083,958 (GRCm39) N214K probably benign Het
Fam3b T G 16: 97,276,568 (GRCm39) Q177H possibly damaging Het
Hc T G 2: 34,903,050 (GRCm39) D1067A probably damaging Het
Herc6 A G 6: 57,560,191 (GRCm39) D77G probably benign Het
Hmg20a A T 9: 56,397,116 (GRCm39) E305D possibly damaging Het
Il16 G A 7: 83,301,775 (GRCm39) Q116* probably null Het
Kif13a T A 13: 46,954,789 (GRCm39) I648F probably damaging Het
Lactb G T 9: 66,874,969 (GRCm39) N374K possibly damaging Het
Lmx1b T C 2: 33,459,118 (GRCm39) D145G probably damaging Het
Lrfn4 T C 19: 4,663,937 (GRCm39) D199G probably damaging Het
Lrrc49 A T 9: 60,522,444 (GRCm39) V307E possibly damaging Het
Magi1 A C 6: 93,685,051 (GRCm39) S776A possibly damaging Het
Mthfsl T A 9: 88,570,807 (GRCm39) *147L probably null Het
Nsmce4a G T 7: 130,148,722 (GRCm39) Q95K probably benign Het
Or1j15 A T 2: 36,458,963 (GRCm39) M118L probably damaging Het
Or4k37 A G 2: 111,159,558 (GRCm39) T265A probably benign Het
Or4k49 A T 2: 111,494,987 (GRCm39) K139* probably null Het
Or5b24 T C 19: 12,912,948 (GRCm39) V282A possibly damaging Het
Pcdha7 A G 18: 37,107,788 (GRCm39) E271G probably damaging Het
Pcdhga8 T A 18: 37,860,596 (GRCm39) F551I possibly damaging Het
Prpf31 T C 7: 3,642,705 (GRCm39) probably null Het
Qrfpr C T 3: 36,236,742 (GRCm39) V220I possibly damaging Het
Rnf170 T C 8: 26,615,994 (GRCm39) F95S possibly damaging Het
Scn9a T A 2: 66,393,973 (GRCm39) Y200F possibly damaging Het
Sfpq A T 4: 126,915,141 (GRCm39) probably null Het
Slc9c1 A T 16: 45,376,132 (GRCm39) Y406F probably damaging Het
Stk32c G T 7: 138,700,628 (GRCm39) Y200* probably null Het
Svil A G 18: 5,108,675 (GRCm39) R1938G probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tm9sf4 T C 2: 153,024,409 (GRCm39) probably null Het
Tmc3 A T 7: 83,264,170 (GRCm39) M633L possibly damaging Het
Tmem163 T C 1: 127,605,185 (GRCm39) D61G possibly damaging Het
Unc5b C A 10: 60,613,325 (GRCm39) A304S probably benign Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Vmn2r18 A T 5: 151,508,462 (GRCm39) S221T possibly damaging Het
Vmn2r85 T G 10: 130,258,672 (GRCm39) Y461S probably damaging Het
Yod1 T C 1: 130,646,800 (GRCm39) F226L possibly damaging Het
Zbtb4 T C 11: 69,667,148 (GRCm39) I151T probably damaging Het
Zfp110 A T 7: 12,583,701 (GRCm39) Q783L probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTTCCTCGCTCACTTGAGAG -3'
(R):5'- CACACCTCATTGACCTGGTC -3'

Sequencing Primer
(F):5'- CTCGCTCACTTGAGAGGAGAG -3'
(R):5'- TTGACCTGGTCACCAATGAG -3'
Posted On 2017-08-16