Incidental Mutation 'R5432:Fjx1'
ID 428081
Institutional Source Beutler Lab
Gene Symbol Fjx1
Ensembl Gene ENSMUSG00000075012
Gene Name four jointed box 1
Synonyms
MMRRC Submission 042997-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5432 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 102279711-102282137 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102280864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 357 (N357S)
Ref Sequence ENSEMBL: ENSMUSP00000097270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099678]
AlphaFold Q8BQB4
Predicted Effect possibly damaging
Transcript: ENSMUST00000099678
AA Change: N357S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097270
Gene: ENSMUSG00000075012
AA Change: N357S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 56 67 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased dendritic length and reduced dendritic complexity of hippocampal neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt G A 9: 4,309,349 (GRCm39) R30* probably null Het
Abca9 G A 11: 110,032,380 (GRCm39) R746W possibly damaging Het
Akap13 A G 7: 75,252,578 (GRCm39) E236G probably damaging Het
Asb4 A C 6: 5,430,912 (GRCm39) R382S probably damaging Het
Bahcc1 T C 11: 120,178,814 (GRCm39) S2458P probably benign Het
Bspry T C 4: 62,400,952 (GRCm39) V148A probably benign Het
Cacna2d3 A C 14: 28,665,512 (GRCm39) probably null Het
Cblb T A 16: 51,963,228 (GRCm39) H390Q probably damaging Het
Cct8l1 T C 5: 25,721,305 (GRCm39) S7P possibly damaging Het
Cep295 T C 9: 15,262,991 (GRCm39) T191A possibly damaging Het
Cts8 A C 13: 61,398,826 (GRCm39) F227V probably benign Het
Elac1 T C 18: 73,875,864 (GRCm39) T56A possibly damaging Het
Gm5414 T C 15: 101,533,069 (GRCm39) T453A probably damaging Het
Hcls1 G A 16: 36,781,910 (GRCm39) E340K probably benign Het
Hrc C A 7: 44,986,285 (GRCm39) H479N possibly damaging Het
Ikzf4 A G 10: 128,470,047 (GRCm39) V491A probably damaging Het
Kalrn A G 16: 33,873,992 (GRCm39) S138P probably damaging Het
Lama3 G T 18: 12,705,123 (GRCm39) D3062Y probably damaging Het
Lcor A G 19: 41,573,042 (GRCm39) E599G probably damaging Het
Llgl1 T C 11: 60,598,449 (GRCm39) S442P probably benign Het
Macf1 T A 4: 123,353,129 (GRCm39) K1517* probably null Het
Myo9a A T 9: 59,772,953 (GRCm39) Y995F possibly damaging Het
Nek3 A C 8: 22,638,748 (GRCm39) probably null Het
Nynrin A G 14: 56,101,923 (GRCm39) T531A possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2m12 A T 16: 19,104,839 (GRCm39) I218N probably benign Het
Pdia4 A G 6: 47,775,400 (GRCm39) V470A possibly damaging Het
Pinlyp T C 7: 24,241,892 (GRCm39) D105G probably damaging Het
Pla2g6 A G 15: 79,186,817 (GRCm39) probably null Het
Plpp7 A G 2: 31,985,932 (GRCm39) S37G probably benign Het
Prdm11 G T 2: 92,806,158 (GRCm39) P264Q probably benign Het
Rbl2 G T 8: 91,828,911 (GRCm39) R604L probably benign Het
Rfx7 A G 9: 72,500,584 (GRCm39) T115A probably benign Het
Samd4 A G 14: 47,311,519 (GRCm39) Q279R probably benign Het
Sdha G T 13: 74,475,068 (GRCm39) A591D probably damaging Het
Secisbp2 AAGCAGCAGCAGCAGCAGCA AAGCAGCAGCAGCAGCA 13: 51,828,002 (GRCm39) probably benign Het
Sephs2 G A 7: 126,872,977 (GRCm39) R39W probably damaging Het
Serpina3f T C 12: 104,186,577 (GRCm39) I381T possibly damaging Het
Shd A T 17: 56,283,214 (GRCm39) Q281L probably damaging Het
Sik3 A G 9: 46,034,539 (GRCm39) S98G probably benign Het
Srgap1 T A 10: 121,705,728 (GRCm39) N232I probably damaging Het
Thbs1 A T 2: 117,945,164 (GRCm39) N246Y probably benign Het
Usp9y A G Y: 1,368,022 (GRCm39) probably null Het
Vwde A G 6: 13,190,591 (GRCm39) M500T probably damaging Het
Wdr72 T G 9: 74,183,228 (GRCm39) S1053R probably damaging Het
Yif1b T C 7: 28,945,393 (GRCm39) C192R probably damaging Het
Zc3h13 A G 14: 75,568,687 (GRCm39) S1327G probably damaging Het
Zfp1004 A G 2: 150,033,901 (GRCm39) N74S possibly damaging Het
Other mutations in Fjx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02835:Fjx1 UTSW 2 102,281,092 (GRCm39) missense possibly damaging 0.93
R0384:Fjx1 UTSW 2 102,281,452 (GRCm39) missense probably damaging 1.00
R1624:Fjx1 UTSW 2 102,281,509 (GRCm39) missense probably benign 0.04
R1959:Fjx1 UTSW 2 102,281,152 (GRCm39) missense probably benign 0.12
R4059:Fjx1 UTSW 2 102,281,066 (GRCm39) missense possibly damaging 0.53
R6186:Fjx1 UTSW 2 102,281,152 (GRCm39) missense probably benign 0.12
R6941:Fjx1 UTSW 2 102,280,903 (GRCm39) missense probably benign 0.40
R7092:Fjx1 UTSW 2 102,281,101 (GRCm39) missense possibly damaging 0.94
R8036:Fjx1 UTSW 2 102,280,720 (GRCm39) missense probably damaging 1.00
R8443:Fjx1 UTSW 2 102,281,156 (GRCm39) missense possibly damaging 0.52
Z1177:Fjx1 UTSW 2 102,281,342 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- TTTGGCGAGGAAGTCAAGGC -3'
(R):5'- ATGGACCGATCTGATCCTCTTC -3'

Sequencing Primer
(F):5'- AGTCAAGGCGGCGCTGTAG -3'
(R):5'- GATTACCTGACGGCCAACTTTGAC -3'
Posted On 2016-09-01