Incidental Mutation 'IGL00870:Cpsf7'
ID9876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpsf7
Ensembl Gene ENSMUSG00000034820
Gene Namecleavage and polyadenylation specific factor 7
SynonymsC330017N18Rik, 5730453I16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00870
Quality Score
Status
Chromosome19
Chromosomal Location10525244-10547735 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 10539650 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038379] [ENSMUST00000123788] [ENSMUST00000145210]
Predicted Effect probably damaging
Transcript: ENSMUST00000038379
AA Change: L372P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820
AA Change: L372P

DomainStartEndE-ValueType
low complexity region 51 63 N/A INTRINSIC
RRM 83 158 7.31e-8 SMART
low complexity region 188 202 N/A INTRINSIC
low complexity region 228 260 N/A INTRINSIC
low complexity region 265 291 N/A INTRINSIC
low complexity region 346 362 N/A INTRINSIC
low complexity region 405 439 N/A INTRINSIC
low complexity region 454 471 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123788
SMART Domains Protein: ENSMUSP00000119596
Gene: ENSMUSG00000024667

DomainStartEndE-ValueType
Pfam:Transmemb_17 15 123 9.9e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000145210
SMART Domains Protein: ENSMUSP00000123397
Gene: ENSMUSG00000024667

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 69 2.8e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,013,698 D4115E probably damaging Het
Asb5 T C 8: 54,583,660 probably null Het
Cpeb3 A T 19: 37,054,295 I569N probably damaging Het
Dlat A G 9: 50,650,869 L285P probably damaging Het
Dytn T C 1: 63,677,113 probably benign Het
Ears2 A T 7: 122,055,676 L123Q probably damaging Het
Gad2 T C 2: 22,629,971 V212A probably benign Het
Gon4l T C 3: 88,857,185 Y358H probably damaging Het
Gys1 T C 7: 45,448,013 probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Krtap20-2 G A 16: 89,205,987 G25D unknown Het
Lrif1 T C 3: 106,734,641 probably null Het
Naip2 A G 13: 100,152,060 probably benign Het
Olfr884 A T 9: 38,047,740 I173F probably damaging Het
Oxct1 T A 15: 4,101,818 L396Q probably damaging Het
Pclo A T 5: 14,539,983 R766W unknown Het
Pkhd1 T A 1: 20,571,390 I275F probably damaging Het
Rxfp3 A G 15: 11,036,215 F357S probably damaging Het
Rxfp3 A G 15: 11,036,305 V327A probably damaging Het
Serpinb2 A G 1: 107,523,070 I181V probably damaging Het
Smad5 A G 13: 56,723,667 D25G probably benign Het
Strada A G 11: 106,171,257 L82P probably damaging Het
Tek T A 4: 94,873,081 Y1079* probably null Het
Tenm3 T C 8: 48,417,132 T209A probably benign Het
Tnks1bp1 C T 2: 85,062,236 Q836* probably null Het
Toporsl T C 4: 52,610,172 S22P probably benign Het
Ttc17 T C 2: 94,371,733 probably null Het
Ttc39a A G 4: 109,442,345 probably benign Het
Vangl1 T C 3: 102,189,440 D60G probably damaging Het
Vmn1r13 A T 6: 57,210,113 M86L probably benign Het
Vmn1r220 C T 13: 23,184,477 M16I probably null Het
Other mutations in Cpsf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Cpsf7 APN 19 10539787 missense probably damaging 0.98
IGL01883:Cpsf7 APN 19 10526023 missense possibly damaging 0.69
IGL02406:Cpsf7 APN 19 10531988 missense probably damaging 0.96
IGL02491:Cpsf7 APN 19 10539637 missense possibly damaging 0.92
IGL02990:Cpsf7 APN 19 10531795 missense probably benign
R0003:Cpsf7 UTSW 19 10539629 missense possibly damaging 0.88
R0540:Cpsf7 UTSW 19 10533318 nonsense probably null
R0633:Cpsf7 UTSW 19 10531782 missense probably benign 0.09
R0662:Cpsf7 UTSW 19 10526008 start codon destroyed probably null 0.77
R1309:Cpsf7 UTSW 19 10533467 critical splice donor site probably null
R1817:Cpsf7 UTSW 19 10535439 missense possibly damaging 0.89
R2004:Cpsf7 UTSW 19 10540709 missense probably damaging 1.00
R2286:Cpsf7 UTSW 19 10535296 missense probably damaging 0.99
R2417:Cpsf7 UTSW 19 10525968 start gained probably benign
R4374:Cpsf7 UTSW 19 10539637 missense probably damaging 1.00
R5788:Cpsf7 UTSW 19 10540718 missense possibly damaging 0.88
R5801:Cpsf7 UTSW 19 10539632 missense probably benign 0.02
R6823:Cpsf7 UTSW 19 10532884 nonsense probably null
R7371:Cpsf7 UTSW 19 10531839 missense probably benign 0.00
R7602:Cpsf7 UTSW 19 10535373 missense probably damaging 0.99
Posted On2012-12-06