Incidental Mutation 'R6823:Cpsf7'
ID 537782
Institutional Source Beutler Lab
Gene Symbol Cpsf7
Ensembl Gene ENSMUSG00000034820
Gene Name cleavage and polyadenylation specific factor 7
Synonyms 5730453I16Rik, C330017N18Rik
MMRRC Submission 044935-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6823 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 10502630-10525017 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 10510248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 113 (L113*)
Ref Sequence ENSEMBL: ENSMUSP00000038958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038379] [ENSMUST00000145210]
AlphaFold Q8BTV2
Predicted Effect probably null
Transcript: ENSMUST00000038379
AA Change: L113*
SMART Domains Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820
AA Change: L113*

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: ENSMUST00000145210
SMART Domains Protein: ENSMUSP00000123397
Gene: ENSMUSG00000024667

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 69 2.8e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,626,735 (GRCm39) probably null Het
Adgrv1 A G 13: 81,705,200 (GRCm39) F1537L probably damaging Het
Aggf1 T C 13: 95,501,231 (GRCm39) S384G probably benign Het
Anxa8 A T 14: 33,816,722 (GRCm39) D204V possibly damaging Het
Asap3 A T 4: 135,954,883 (GRCm39) E71V possibly damaging Het
BC024139 T C 15: 76,003,946 (GRCm39) *773W probably null Het
Bckdhb T C 9: 83,835,814 (GRCm39) V106A possibly damaging Het
Cep250 A G 2: 155,823,379 (GRCm39) D1010G probably benign Het
Chrd T A 16: 20,553,486 (GRCm39) L243Q probably damaging Het
Cib2 G T 9: 54,457,175 (GRCm39) L30I possibly damaging Het
Cubn T A 2: 13,449,840 (GRCm39) I895L probably benign Het
Cyp24a1 C A 2: 170,329,899 (GRCm39) R351I probably benign Het
Cyp2a12 A T 7: 26,733,581 (GRCm39) D320V possibly damaging Het
Dact1 C G 12: 71,364,713 (GRCm39) P498R probably benign Het
Diaph1 T A 18: 38,009,436 (GRCm39) probably null Het
Dnah7a A T 1: 53,495,863 (GRCm39) I3198N probably benign Het
Dop1b A T 16: 93,552,373 (GRCm39) I271F possibly damaging Het
Elp1 A G 4: 56,787,939 (GRCm39) Y331H probably damaging Het
Erich3 C A 3: 154,433,074 (GRCm39) F349L probably damaging Het
Fam187b G C 7: 30,688,715 (GRCm39) V358L probably benign Het
Fat4 T A 3: 39,038,088 (GRCm39) H3913Q probably benign Het
Fbxw7 G C 3: 84,865,934 (GRCm39) E118D probably benign Het
Fgf1 A G 18: 38,980,161 (GRCm39) I71T probably damaging Het
Fryl A T 5: 73,222,560 (GRCm39) I2007K probably damaging Het
Galnt2 C G 8: 125,050,750 (GRCm39) P130A probably benign Het
H1f10 G A 6: 87,958,284 (GRCm39) R19C probably damaging Het
Hmga2 A C 10: 120,311,929 (GRCm39) S14A possibly damaging Het
Hoxb4 C T 11: 96,209,480 (GRCm39) probably benign Het
Hr A T 14: 70,802,814 (GRCm39) I756F probably damaging Het
Hspa1b A T 17: 35,177,161 (GRCm39) S275T probably benign Het
Kcnh1 T C 1: 192,187,597 (GRCm39) *99R probably null Het
Kit C A 5: 75,813,309 (GRCm39) L864I probably benign Het
Klk14 A T 7: 43,343,880 (GRCm39) K196* probably null Het
Lmod1 A G 1: 135,252,905 (GRCm39) N53S probably damaging Het
Myh13 T C 11: 67,246,984 (GRCm39) M1235T probably benign Het
Neurl3 T A 1: 36,307,785 (GRCm39) K175* probably null Het
Nlgn2 T A 11: 69,716,750 (GRCm39) K597M probably damaging Het
Npdc1 T C 2: 25,299,121 (GRCm39) M306T probably damaging Het
Obscn C T 11: 58,958,769 (GRCm39) probably null Het
Or1p1b T C 11: 74,130,522 (GRCm39) L44P probably damaging Het
Or52m2 G A 7: 102,263,693 (GRCm39) L168F probably damaging Het
Or8b49 T C 9: 38,506,201 (GRCm39) I228T possibly damaging Het
Pbrm1 A T 14: 30,806,747 (GRCm39) Y1042F probably damaging Het
Pclo T A 5: 14,727,921 (GRCm39) probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Phf12 C T 11: 77,913,337 (GRCm39) Q430* probably null Het
Plaat5 A T 19: 7,616,861 (GRCm39) probably benign Het
Pld3 C T 7: 27,235,322 (GRCm39) R302H probably damaging Het
Plekha5 T C 6: 140,471,584 (GRCm39) S112P probably benign Het
Pmfbp1 T A 8: 110,256,939 (GRCm39) S548T possibly damaging Het
Ppa1 A T 10: 61,503,382 (GRCm39) I220F probably damaging Het
Ppp2r3d A G 9: 124,439,078 (GRCm38) probably benign Het
Psmg2 A T 18: 67,781,927 (GRCm39) E164D possibly damaging Het
Rarb T C 14: 16,443,824 (GRCm38) R155G probably damaging Het
Rnf215 T C 11: 4,086,609 (GRCm39) L162S probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rtkn2 G A 10: 67,862,462 (GRCm39) V330M probably damaging Het
Slc16a4 A T 3: 107,218,814 (GRCm39) I472F probably benign Het
Snx14 T C 9: 88,276,435 (GRCm39) N617D possibly damaging Het
Spire2 T C 8: 124,083,466 (GRCm39) V150A probably damaging Het
Sptbn1 C A 11: 30,064,787 (GRCm39) R1904M probably damaging Het
Swap70 A G 7: 109,880,510 (GRCm39) E575G possibly damaging Het
Tbxas1 A T 6: 38,896,087 (GRCm39) M1L possibly damaging Het
Tenm3 A T 8: 48,709,872 (GRCm39) V1688D probably damaging Het
Tgfbr3 A T 5: 107,297,780 (GRCm39) S207T probably damaging Het
Timm44 A G 8: 4,317,282 (GRCm39) F248L probably damaging Het
Tmem161a T C 8: 70,633,849 (GRCm39) L170P probably damaging Het
Tmem63a A T 1: 180,788,035 (GRCm39) Y263F possibly damaging Het
Tnfsf9 C A 17: 57,412,513 (GRCm39) L28I probably benign Het
Tph2 T A 10: 115,010,011 (GRCm39) N183I probably benign Het
Ttyh1 T C 7: 4,125,528 (GRCm39) I60T probably damaging Het
Ubn1 T G 16: 4,882,411 (GRCm39) S48A probably damaging Het
Ubr5 T C 15: 37,989,842 (GRCm39) N2019S probably benign Het
Wbp2 T C 11: 115,977,736 (GRCm39) N6D probably benign Het
Wdr59 T A 8: 112,185,672 (GRCm39) E810V possibly damaging Het
Wiz T C 17: 32,579,395 (GRCm39) D220G probably damaging Het
Yipf7 A G 5: 69,674,413 (GRCm39) L244P probably damaging Het
Zdhhc17 T C 10: 110,790,972 (GRCm39) T366A possibly damaging Het
Zfp169 A T 13: 48,644,472 (GRCm39) probably benign Het
Zfp707 C T 15: 75,841,572 (GRCm39) probably benign Het
Zfp788 A G 7: 41,298,984 (GRCm39) H540R 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
R4374:Cpsf7 UTSW 19 10,517,001 (GRCm39) missense probably damaging 1.00
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
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'- AAGAAAAGCCTGCACTGATTG -3'
(R):5'- TGGCAGTTTGTCAAAACCAAG -3'

Sequencing Primer
(F):5'- CCTGCACTGATTGAAATATTGCTGG -3'
(R):5'- CCAAGGTAGTAAGCTAGGCC -3'
Posted On 2018-10-18