Incidental Mutation 'R5859:Ncbp1'
ID 455048
Institutional Source Beutler Lab
Gene Symbol Ncbp1
Ensembl Gene ENSMUSG00000028330
Gene Name nuclear cap binding protein subunit 1
Synonyms
MMRRC Submission 044071-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5859 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 46138613-46172403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46163026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 480 (N480S)
Ref Sequence ENSEMBL: ENSMUSP00000030014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030014] [ENSMUST00000058232]
AlphaFold Q3UYV9
PDB Structure Mouse importin alpha: mouse CBP80 cNLS complex [X-RAY DIFFRACTION]
Mouse importin alpha: mouse CBP80Y8D cNLS complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000030014
AA Change: N480S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: N480S

DomainStartEndE-ValueType
MIF4G 28 240 1.33e-38 SMART
Pfam:MIF4G_like 309 471 1.4e-37 PFAM
Pfam:MIF4G_like_2 485 754 4e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058232
SMART Domains Protein: ENSMUSP00000050453
Gene: ENSMUSG00000028329

DomainStartEndE-ValueType
low complexity region 32 55 N/A INTRINSIC
Pfam:XPA_N 101 132 5.2e-18 PFAM
Pfam:XPA_C 134 185 3e-30 PFAM
low complexity region 212 223 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133286
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency 93% (70/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,303,477 (GRCm39) V150E probably benign Het
Alg11 A G 8: 22,555,857 (GRCm39) K373E probably benign Het
Arl14ep C T 2: 106,799,398 (GRCm39) probably benign Het
Ascc2 G A 11: 4,608,284 (GRCm39) G227R probably benign Het
Ash1l C T 3: 88,976,300 (GRCm39) P2627S probably damaging Het
Btla T G 16: 45,059,402 (GRCm39) probably null Het
Btnl10 C T 11: 58,813,138 (GRCm39) P256S probably benign Het
Cep162 C T 9: 87,086,145 (GRCm39) A1060T probably damaging Het
Cfap54 T A 10: 92,852,386 (GRCm39) K907* probably null Het
Chpf A T 1: 75,452,072 (GRCm39) F461I probably damaging Het
Chrdl2 A G 7: 99,670,114 (GRCm39) Y79C probably damaging Het
Copb2 G A 9: 98,450,161 (GRCm39) C40Y probably benign Het
Cyfip1 T C 7: 55,574,929 (GRCm39) L1060P probably damaging Het
Drg1 G A 11: 3,209,273 (GRCm39) probably benign Het
Erich3 A G 3: 154,468,134 (GRCm39) D862G possibly damaging Het
Flii G T 11: 60,607,137 (GRCm39) Y946* probably null Het
Glt8d2 T C 10: 82,507,915 (GRCm39) M1V probably null Het
Gm21136 T A 7: 38,567,165 (GRCm39) noncoding transcript Het
Gramd1c T C 16: 43,812,454 (GRCm39) T393A possibly damaging Het
Gucy2d T A 7: 98,101,090 (GRCm39) I471N probably benign Het
Hps3 G A 3: 20,063,034 (GRCm39) T711M probably benign Het
Hs3st4 A T 7: 123,582,831 (GRCm39) D143V probably benign Het
Kif17 T A 4: 138,018,744 (GRCm39) M461K possibly damaging Het
Klhdc7a T A 4: 139,694,885 (GRCm39) S21C probably damaging Het
Klk15 G A 7: 43,587,800 (GRCm39) R76H probably benign Het
Lnpk G A 2: 74,399,372 (GRCm39) T57I possibly damaging Het
Ltbp2 A G 12: 84,840,837 (GRCm39) V999A possibly damaging Het
Ltbr T C 6: 125,289,771 (GRCm39) H141R probably damaging Het
Lvrn T C 18: 47,026,816 (GRCm39) F805L probably damaging Het
Ms4a13 A T 19: 11,161,280 (GRCm39) C86* probably null Het
Nelfcd T G 2: 174,268,856 (GRCm39) *592G probably null Het
Neurog2 T C 3: 127,427,664 (GRCm39) V96A probably benign Het
Nod1 A T 6: 54,907,162 (GRCm39) W902R probably benign Het
Or12d13 T C 17: 37,647,260 (GRCm39) I288V possibly damaging Het
Or4k15c T A 14: 50,321,484 (GRCm39) Y218F probably damaging Het
Or55b3 T C 7: 102,126,957 (GRCm39) Y40C possibly damaging Het
Or6d13 T C 6: 116,517,861 (GRCm39) L149P probably damaging Het
Pcdha11 A T 18: 37,140,336 (GRCm39) H655L probably damaging Het
Plpp7 A G 2: 31,985,996 (GRCm39) E58G probably benign Het
Psph A T 5: 129,867,685 (GRCm39) probably benign Het
Rab11fip1 A C 8: 27,644,748 (GRCm39) S346A probably damaging Het
Rreb1 C A 13: 38,131,384 (GRCm39) P1513T probably benign Het
Rreb1 C T 13: 38,131,385 (GRCm39) P1513L probably benign Het
Rsf1 C T 7: 97,334,766 (GRCm39) R1300C probably damaging Het
Scap A G 9: 110,203,115 (GRCm39) N263S probably benign Het
Sec24d A T 3: 123,072,961 (GRCm39) probably benign Het
Slain2 T C 5: 73,105,888 (GRCm39) probably benign Het
Slc6a18 G T 13: 73,816,278 (GRCm39) T367N probably benign Het
Slk T A 19: 47,597,481 (GRCm39) D96E probably benign Het
Spag5 G A 11: 78,204,360 (GRCm39) V514I probably benign Het
St8sia2 T C 7: 73,616,654 (GRCm39) D107G probably damaging Het
Tgfbr3 T A 5: 107,288,381 (GRCm39) I427F probably benign Het
Tlr2 T G 3: 83,743,810 (GRCm39) T758P possibly damaging Het
Tmem270 A G 5: 134,931,738 (GRCm39) V68A probably benign Het
Vmn2r106 T A 17: 20,505,583 (GRCm39) H37L possibly damaging Het
Vmn2r27 T G 6: 124,177,647 (GRCm39) R452S probably damaging Het
Wdr5 A G 2: 27,423,362 (GRCm39) Y252C probably damaging Het
Zswim9 C T 7: 12,995,371 (GRCm39) V262M probably damaging Het
Other mutations in Ncbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Ncbp1 APN 4 46,161,307 (GRCm39) missense probably damaging 1.00
IGL02085:Ncbp1 APN 4 46,159,699 (GRCm39) missense probably damaging 0.96
IGL02230:Ncbp1 APN 4 46,165,272 (GRCm39) missense probably benign 0.03
IGL02561:Ncbp1 APN 4 46,159,711 (GRCm39) missense possibly damaging 0.80
IGL02574:Ncbp1 APN 4 46,168,449 (GRCm39) critical splice acceptor site probably null
IGL03371:Ncbp1 APN 4 46,171,991 (GRCm39) nonsense probably null
R0549:Ncbp1 UTSW 4 46,168,476 (GRCm39) missense possibly damaging 0.69
R0594:Ncbp1 UTSW 4 46,170,551 (GRCm39) missense probably benign 0.00
R0699:Ncbp1 UTSW 4 46,147,528 (GRCm39) missense probably benign 0.17
R0725:Ncbp1 UTSW 4 46,152,056 (GRCm39) missense probably benign 0.01
R0961:Ncbp1 UTSW 4 46,165,193 (GRCm39) missense possibly damaging 0.69
R1330:Ncbp1 UTSW 4 46,167,354 (GRCm39) missense probably benign 0.19
R1622:Ncbp1 UTSW 4 46,171,963 (GRCm39) missense possibly damaging 0.60
R1756:Ncbp1 UTSW 4 46,169,131 (GRCm39) nonsense probably null
R2417:Ncbp1 UTSW 4 46,168,530 (GRCm39) missense probably benign 0.20
R4050:Ncbp1 UTSW 4 46,147,483 (GRCm39) missense probably damaging 0.99
R4132:Ncbp1 UTSW 4 46,169,241 (GRCm39) nonsense probably null
R4516:Ncbp1 UTSW 4 46,157,824 (GRCm39) missense probably damaging 1.00
R4795:Ncbp1 UTSW 4 46,152,967 (GRCm39) missense possibly damaging 0.83
R4796:Ncbp1 UTSW 4 46,152,967 (GRCm39) missense possibly damaging 0.83
R4960:Ncbp1 UTSW 4 46,165,273 (GRCm39) nonsense probably null
R5557:Ncbp1 UTSW 4 46,165,259 (GRCm39) missense probably benign 0.01
R5626:Ncbp1 UTSW 4 46,161,290 (GRCm39) missense probably damaging 1.00
R5682:Ncbp1 UTSW 4 46,170,474 (GRCm39) unclassified probably benign
R6377:Ncbp1 UTSW 4 46,150,703 (GRCm39) missense probably damaging 1.00
R6440:Ncbp1 UTSW 4 46,147,516 (GRCm39) missense probably damaging 1.00
R6793:Ncbp1 UTSW 4 46,157,827 (GRCm39) missense probably damaging 0.99
R7078:Ncbp1 UTSW 4 46,155,756 (GRCm39) missense probably benign 0.00
R7434:Ncbp1 UTSW 4 46,149,910 (GRCm39) missense probably damaging 1.00
R7445:Ncbp1 UTSW 4 46,149,914 (GRCm39) missense probably damaging 0.98
R7477:Ncbp1 UTSW 4 46,157,897 (GRCm39) missense probably damaging 1.00
R7670:Ncbp1 UTSW 4 46,170,015 (GRCm39) missense probably damaging 0.96
R8424:Ncbp1 UTSW 4 46,144,839 (GRCm39) missense probably benign
R8970:Ncbp1 UTSW 4 46,170,023 (GRCm39) missense probably damaging 0.99
R9712:Ncbp1 UTSW 4 46,144,837 (GRCm39) missense probably benign 0.03
X0013:Ncbp1 UTSW 4 46,150,702 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TGCCTCTTAGTTGTTCACTGAG -3'
(R):5'- ACATTCCAGGAAAGAAGTCCTC -3'

Sequencing Primer
(F):5'- CACTGAGTTTGGGATCTTGGATTC -3'
(R):5'- TTCCAGGAAAGAAGTCCTCTTACTAC -3'
Posted On 2017-02-10