Incidental Mutation 'IGL01465:Cpsf2'
ID88097
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 #IGL01465
Quality Score
Status
Chromosome12
Chromosomal Location101975988-102006424 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 101997333 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 440 (D440E)
Ref Sequence ENSEMBL: ENSMUSP00000047797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047357]
Predicted Effect probably damaging
Transcript: ENSMUST00000047357
AA Change: D440E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: D440E

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,839 probably null Het
Abracl A T 10: 18,011,651 I76N probably damaging Het
Akap12 C T 10: 4,356,886 T1232I probably damaging Het
Clcn6 A T 4: 148,021,451 probably benign Het
Csf2ra A G 19: 61,225,998 V243A possibly damaging Het
Cyp4f18 T A 8: 72,002,444 H96L probably benign Het
Dvl2 T A 11: 70,006,354 I294N probably damaging Het
Fbn2 T A 18: 58,203,833 N117Y probably null Het
Gdpd3 A G 7: 126,768,657 I221V possibly damaging Het
Grk2 A T 19: 4,290,858 C221S probably damaging Het
Idi1 T C 13: 8,890,379 I199T probably benign Het
Klhl6 T C 16: 19,982,822 E61G probably damaging Het
Lig1 T A 7: 13,296,391 S431R probably benign Het
Lrg1 T C 17: 56,120,705 E89G probably benign Het
Lrrk2 A G 15: 91,728,925 K751E probably benign Het
Macf1 T A 4: 123,490,721 T1128S probably benign Het
Nphs1 T C 7: 30,486,714 *1243R probably null Het
Rere G A 4: 150,509,994 V354I unknown Het
Safb A G 17: 56,602,974 probably benign Het
Slc2a10 C A 2: 165,517,677 A487D possibly damaging Het
Slc7a12 T A 3: 14,499,323 S85R possibly damaging Het
Sorbs3 G A 14: 70,195,509 probably benign Het
Ttn A G 2: 76,769,791 M19013T probably damaging Het
Utp4 A G 8: 106,894,698 T36A probably benign Het
Vmn2r111 A T 17: 22,548,737 F593Y probably benign 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
IGL02861:Cpsf2 APN 12 101999566 missense probably benign 0.00
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 On2013-11-18