Incidental Mutation 'IGL00492:Fcf1'
ID10748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcf1
Ensembl Gene ENSMUSG00000021243
Gene NameFCF1 rRNA processing protein
Synonyms1110008B24Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.915) question?
Stock #IGL00492
Quality Score
Status
Chromosome12
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
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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