Incidental Mutation 'R0534:Fign'
ID 49353
Institutional Source Beutler Lab
Gene Symbol Fign
Ensembl Gene ENSMUSG00000075324
Gene Name fidgetin
Synonyms Fgn
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0534 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 63801852-63928382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63811135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 45 (H45L)
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: H45L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: H45L

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 0.1450 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 44,986,659 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCGACCATTCACGAGTCCTGATG -3'
(R):5'- ACCTGGGAAGATTCTTATCCACCTCC -3'

Sequencing Primer
(F):5'- CCTGATGGTGTGTCTGAATAATTGC -3'
(R):5'- CCACCTCCATATTGTTAGTGGAAG -3'
Posted On 2013-06-12