Incidental Mutation 'IGL02861:Cpsf2'
ID362167
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpsf2
Ensembl Gene ENSMUSG00000041781
Gene Namecleavage and polyadenylation specific factor 2
Synonyms100kDa, 2610024B04Rik, Cpsf
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.969) question?
Stock #IGL02861
Quality Score
Status
Chromosome12
Chromosomal Location101975988-102006424 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 101999566 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 597 (V597I)
Ref Sequence ENSEMBL: ENSMUSP00000047797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047357]
Predicted Effect probably benign
Transcript: ENSMUST00000047357
AA Change: V597I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: V597I

DomainStartEndE-ValueType
Lactamase_B 17 223 5.22e-1 SMART
Beta-Casp 243 368 1.8e-21 SMART
coiled coil region 380 418 N/A INTRINSIC
Pfam:RMMBL 527 569 1.2e-14 PFAM
Pfam:CPSF100_C 608 779 5.7e-46 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 60,853,332 probably benign Het
6430548M08Rik G A 8: 120,150,124 R157H probably damaging Het
Amer3 A G 1: 34,588,125 K482E probably damaging Het
Ankrd11 A T 8: 122,895,827 S429T probably damaging Het
Ano3 T A 2: 110,738,812 N125I probably damaging Het
BC106179 T A 16: 23,223,996 probably benign Het
Bclaf3 T C X: 159,555,528 I457T possibly damaging Het
Cbr3 T G 16: 93,685,119 V121G probably damaging Het
Cd44 A G 2: 102,832,481 probably null Het
Cd72 G A 4: 43,448,332 A316V probably benign Het
Cdc27 A T 11: 104,522,831 probably benign Het
Cdon A T 9: 35,486,957 Q990L probably damaging Het
Clk2 T C 3: 89,173,399 W231R probably damaging Het
D630003M21Rik A G 2: 158,200,998 V874A probably benign Het
Daam2 A G 17: 49,469,427 F811L probably damaging Het
Ddx54 T C 5: 120,618,130 probably benign Het
Dysf T A 6: 84,039,537 L59Q probably damaging Het
Eps8 A G 6: 137,499,599 Y601H probably damaging Het
Faf2 T C 13: 54,648,422 Y131H probably damaging Het
Hectd4 T A 5: 121,307,004 D101E possibly damaging Het
Hk2 T C 6: 82,760,158 T30A possibly damaging Het
Il27 A T 7: 126,592,649 L77Q probably damaging Het
Klhdc1 T A 12: 69,251,451 V83D possibly damaging Het
Manba T G 3: 135,570,263 S822A probably benign Het
Mterf2 A C 10: 85,120,331 V143G probably damaging Het
Ncapd3 A G 9: 27,069,899 D895G probably benign Het
Olfr1220 T A 2: 89,097,457 I157L probably benign Het
Olfr429 T A 1: 174,089,036 probably benign Het
Panx1 T C 9: 15,007,805 K253E probably benign Het
Phc1 T A 6: 122,323,789 probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ptchd4 A G 17: 42,377,317 E250G probably damaging Het
Rp1 G T 1: 4,346,152 S1579* probably null Het
Rrp1 A G 10: 78,409,222 probably benign Het
Ryr3 A G 2: 112,652,841 L4187P possibly damaging Het
Serpinc1 A T 1: 160,999,991 I387F probably damaging Het
Slc2a7 G A 4: 150,168,379 C492Y probably benign Het
Slf1 A G 13: 77,126,359 probably benign Het
Spta1 T A 1: 174,211,598 L1169Q probably damaging Het
Stap1 T A 5: 86,071,965 probably benign Het
Taf6 A G 5: 138,183,885 L66P probably damaging Het
Ttn T C 2: 76,802,497 E14071G probably damaging Het
Unk A G 11: 116,056,299 H586R possibly damaging Het
Zfpm2 A C 15: 41,103,266 K917T probably damaging Het
Other mutations in Cpsf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Cpsf2 APN 12 101983466 missense probably damaging 1.00
IGL01114:Cpsf2 APN 12 101989839 missense possibly damaging 0.93
IGL01121:Cpsf2 APN 12 101988706 missense probably damaging 1.00
IGL01377:Cpsf2 APN 12 101987381 splice site probably null
IGL01465:Cpsf2 APN 12 101997333 missense probably damaging 1.00
R0469:Cpsf2 UTSW 12 101988786 missense probably damaging 1.00
R0504:Cpsf2 UTSW 12 101990003 missense probably damaging 1.00
R0510:Cpsf2 UTSW 12 101988786 missense probably damaging 1.00
R0626:Cpsf2 UTSW 12 101985231 missense probably benign 0.09
R0697:Cpsf2 UTSW 12 101983184 missense probably benign 0.34
R0837:Cpsf2 UTSW 12 101997242 splice site probably benign
R1475:Cpsf2 UTSW 12 101985236 missense probably damaging 1.00
R1709:Cpsf2 UTSW 12 101999542 missense probably damaging 1.00
R1974:Cpsf2 UTSW 12 101990047 missense probably benign 0.33
R1996:Cpsf2 UTSW 12 101998608 missense probably benign 0.18
R2063:Cpsf2 UTSW 12 101983463 missense probably damaging 1.00
R2164:Cpsf2 UTSW 12 101985335 missense probably damaging 1.00
R2228:Cpsf2 UTSW 12 101989829 missense probably benign 0.00
R3082:Cpsf2 UTSW 12 101988810 missense probably damaging 0.99
R3732:Cpsf2 UTSW 12 101987308 missense probably damaging 0.99
R3732:Cpsf2 UTSW 12 101987308 missense probably damaging 0.99
R3733:Cpsf2 UTSW 12 101987308 missense probably damaging 0.99
R4627:Cpsf2 UTSW 12 101989895 missense probably benign 0.18
R4665:Cpsf2 UTSW 12 101983207 missense probably damaging 1.00
R4666:Cpsf2 UTSW 12 101983207 missense probably damaging 1.00
R4765:Cpsf2 UTSW 12 101997440 missense probably damaging 1.00
R4777:Cpsf2 UTSW 12 101996832 missense probably damaging 0.99
R4847:Cpsf2 UTSW 12 101997302 missense probably benign 0.18
R4923:Cpsf2 UTSW 12 101981984 missense probably benign
R4975:Cpsf2 UTSW 12 101983493 missense probably damaging 1.00
R5239:Cpsf2 UTSW 12 101987273 nonsense probably null
R5440:Cpsf2 UTSW 12 101996879 missense probably benign
R5601:Cpsf2 UTSW 12 101985355 splice site probably null
R5603:Cpsf2 UTSW 12 101998631 missense probably benign 0.02
R5841:Cpsf2 UTSW 12 101985238 missense probably damaging 0.99
R6153:Cpsf2 UTSW 12 101999360 splice site probably null
R6663:Cpsf2 UTSW 12 101999593 missense probably damaging 1.00
R7451:Cpsf2 UTSW 12 102000792 missense possibly damaging 0.52
R8357:Cpsf2 UTSW 12 102002670 missense probably damaging 0.99
R8457:Cpsf2 UTSW 12 102002670 missense probably damaging 0.99
V8831:Cpsf2 UTSW 12 102003141 missense probably damaging 1.00
Posted On2015-12-18