Incidental Mutation 'R4374:Cpsf7'
ID 325054
Institutional Source Beutler Lab
Gene Symbol Cpsf7
Ensembl Gene ENSMUSG00000034820
Gene Name cleavage and polyadenylation specific factor 7
Synonyms 5730453I16Rik, C330017N18Rik
MMRRC Submission 041118-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4374 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 10502630-10525017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10517001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 368 (I368F)
Ref Sequence ENSEMBL: ENSMUSP00000038958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038379] [ENSMUST00000123788] [ENSMUST00000145210]
AlphaFold Q8BTV2
Predicted Effect probably damaging
Transcript: ENSMUST00000038379
AA Change: I368F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820
AA Change: I368F

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 benign
Transcript: ENSMUST00000145210
SMART Domains Protein: ENSMUSP00000123397
Gene: ENSMUSG00000024667

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 69 2.8e-21 PFAM
Meta Mutation Damage Score 0.2902 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (38/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 A G 7: 78,973,278 (GRCm39) M86V probably benign Het
Acin1 C A 14: 54,891,351 (GRCm39) probably benign Het
Aebp2 T A 6: 140,599,984 (GRCm39) probably benign Het
Akap13 A G 7: 75,258,732 (GRCm39) E452G probably damaging Het
Amz1 T C 5: 140,738,194 (GRCm39) S184P possibly damaging Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Ccdc83 A T 7: 89,875,986 (GRCm39) L295* probably null Het
Cd209c T C 8: 4,004,635 (GRCm39) noncoding transcript Het
Csf1r G A 18: 61,252,078 (GRCm39) C520Y probably damaging Het
Dapk1 A G 13: 60,867,498 (GRCm39) D235G probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Fktn T C 4: 53,720,201 (GRCm39) S72P probably damaging Het
Frem2 C A 3: 53,452,923 (GRCm39) V2189F possibly damaging Het
Gm10845 G T 14: 80,100,563 (GRCm39) noncoding transcript Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lama1 A G 17: 68,111,513 (GRCm39) M2255V probably benign Het
Lrsam1 G T 2: 32,845,203 (GRCm39) T104K possibly damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Myo7a G A 7: 97,751,881 (GRCm39) T54M probably damaging Het
Or52ae7 T C 7: 103,119,278 (GRCm39) S11P probably damaging Het
Or5k15 A C 16: 58,710,242 (GRCm39) C114G probably benign Het
Osbpl8 T A 10: 111,105,280 (GRCm39) I245N possibly damaging Het
Pfkp A G 13: 6,671,025 (GRCm39) S135P probably damaging Het
Phf20l1 C T 15: 66,476,686 (GRCm39) T260I possibly damaging Het
Pole T A 5: 110,485,071 (GRCm39) I395K possibly damaging Het
Ppp6r2 T G 15: 89,149,361 (GRCm39) C216W probably damaging Het
Pramel7 C T 2: 87,320,415 (GRCm39) A293T probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Setbp1 T C 18: 78,903,137 (GRCm39) R177G probably damaging Het
Sh2b3 G T 5: 121,966,549 (GRCm39) probably benign Het
Tbc1d30 A G 10: 121,130,617 (GRCm39) F271S probably damaging Het
Tpo T C 12: 30,153,151 (GRCm39) E401G possibly damaging Het
Zdhhc13 T C 7: 48,458,589 (GRCm39) Y308H probably damaging Het
Zfp112 C T 7: 23,825,798 (GRCm39) H589Y probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably damaging Het
Other mutations in Cpsf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Cpsf7 APN 19 10,517,151 (GRCm39) missense probably damaging 0.98
IGL00870:Cpsf7 APN 19 10,517,014 (GRCm39) splice site probably null
IGL01883:Cpsf7 APN 19 10,503,387 (GRCm39) missense possibly damaging 0.69
IGL02406:Cpsf7 APN 19 10,509,352 (GRCm39) missense probably damaging 0.96
IGL02491:Cpsf7 APN 19 10,517,001 (GRCm39) missense possibly damaging 0.92
IGL02990:Cpsf7 APN 19 10,509,159 (GRCm39) missense probably benign
R0003:Cpsf7 UTSW 19 10,516,993 (GRCm39) missense possibly damaging 0.88
R0540:Cpsf7 UTSW 19 10,510,682 (GRCm39) nonsense probably null
R0633:Cpsf7 UTSW 19 10,509,146 (GRCm39) missense probably benign 0.09
R0662:Cpsf7 UTSW 19 10,503,372 (GRCm39) start codon destroyed probably null 0.77
R1309:Cpsf7 UTSW 19 10,510,831 (GRCm39) critical splice donor site probably null
R1817:Cpsf7 UTSW 19 10,512,803 (GRCm39) missense possibly damaging 0.89
R2004:Cpsf7 UTSW 19 10,518,073 (GRCm39) missense probably damaging 1.00
R2286:Cpsf7 UTSW 19 10,512,660 (GRCm39) missense probably damaging 0.99
R2417:Cpsf7 UTSW 19 10,503,332 (GRCm39) start gained probably benign
R5788:Cpsf7 UTSW 19 10,518,082 (GRCm39) missense possibly damaging 0.88
R5801:Cpsf7 UTSW 19 10,516,996 (GRCm39) missense probably benign 0.02
R6823:Cpsf7 UTSW 19 10,510,248 (GRCm39) nonsense probably null
R7371:Cpsf7 UTSW 19 10,509,203 (GRCm39) missense probably benign 0.00
R7602:Cpsf7 UTSW 19 10,512,737 (GRCm39) missense probably damaging 0.99
R8185:Cpsf7 UTSW 19 10,514,224 (GRCm39) nonsense probably null
R8935:Cpsf7 UTSW 19 10,509,345 (GRCm39) nonsense probably null
R9450:Cpsf7 UTSW 19 10,518,213 (GRCm39) critical splice donor site probably null
Z1177:Cpsf7 UTSW 19 10,512,882 (GRCm39) missense probably null 0.83
Predicted Primers PCR Primer
(F):5'- ATAGGGCCACAAGTATATGTCAG -3'
(R):5'- AGAGTGTTGCTCCAGGTCAATC -3'

Sequencing Primer
(F):5'- GGGCCACAAGTATATGTCAGCTTTC -3'
(R):5'- GTTGCTCCAGGTCAATCAACTCAC -3'
Posted On 2015-07-06