Incidental Mutation 'IGL00492:Fcf1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcf1
Ensembl Gene ENSMUSG00000021243
Gene NameFCF1 rRNA processing protein
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.915) question?
Stock #IGL00492
Quality Score
Chromosomal Location84970897-84983303 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 84982332 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021669] [ENSMUST00000171040]
Predicted Effect probably null
Transcript: ENSMUST00000021669
SMART Domains Protein: ENSMUSP00000021669
Gene: ENSMUSG00000021243

low complexity region 23 40 N/A INTRINSIC
PINc 67 166 5.75e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171040
SMART Domains Protein: ENSMUSP00000131190
Gene: ENSMUSG00000021243

low complexity region 11 28 N/A INTRINSIC
PINc 55 154 5.75e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172241
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap29 G T 3: 122,003,312 E108* probably null Het
Braf A T 6: 39,660,999 probably null Het
Calr3 G A 8: 72,431,396 Q112* probably null Het
Dis3 A G 14: 99,082,674 I649T probably damaging Het
Dopey2 T C 16: 93,780,782 V65A probably benign Het
Dpp4 A G 2: 62,379,302 Y126H probably damaging Het
Dtwd2 A T 18: 49,723,709 Y170* probably null Het
Efcab7 A G 4: 99,831,463 T61A probably benign Het
Fbxl3 G T 14: 103,095,294 L83M probably damaging Het
Fbxo17 A C 7: 28,735,341 S184R probably damaging Het
Gm428 C T 4: 73,687,333 T327I probably damaging Het
Hcrtr2 T C 9: 76,246,441 Y223C probably damaging Het
Kcnn1 A G 8: 70,848,062 F432S probably benign Het
Kmt2a C T 9: 44,807,934 probably benign Het
Lce1j T C 3: 92,789,406 T22A unknown Het
Lrfn5 T A 12: 61,844,126 S734T probably benign Het
Lyst T A 13: 13,678,175 S2253R possibly damaging Het
Myrfl G A 10: 116,796,106 L645F possibly damaging Het
Nudt9 A G 5: 104,061,762 probably benign Het
Ostn T A 16: 27,321,382 M15K possibly damaging Het
Psg20 T C 7: 18,674,611 T395A possibly damaging Het
Rpf1 G A 3: 146,512,247 H171Y probably benign Het
Shprh A G 10: 11,188,158 E1325G probably damaging Het
Slc22a8 G T 19: 8,594,135 V77L probably benign Het
Tbck A C 3: 132,722,740 K285N probably benign Het
Vmn1r86 C T 7: 13,102,541 C86Y possibly damaging Het
Zdhhc20 A G 14: 57,873,924 I73T probably damaging Het
Zfp512b T C 2: 181,587,069 D701G probably damaging Het
Zfp735 T A 11: 73,711,366 Y379N possibly damaging Het
Znfx1 G T 2: 167,036,923 H980Q probably damaging Het
Other mutations in Fcf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Fcf1 APN 12 84973061 missense probably benign 0.00
IGL02319:Fcf1 APN 12 84971208 unclassified probably null
H8562:Fcf1 UTSW 12 84980612 splice site probably benign
R0387:Fcf1 UTSW 12 84973002 missense probably benign
R4790:Fcf1 UTSW 12 84974128 missense probably benign 0.06
R5823:Fcf1 UTSW 12 84974147 missense possibly damaging 0.77
R6050:Fcf1 UTSW 12 84982243 missense probably damaging 1.00
Posted On2012-12-06