Incidental Mutation 'IGL02230:Ncbp1'
ID 285652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncbp1
Ensembl Gene ENSMUSG00000028330
Gene Name nuclear cap binding protein subunit 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02230
Quality Score
Status
Chromosome 4
Chromosomal Location 46138613-46172403 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 46165272 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 528 (N528K)
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: N528K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: N528K

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: ENSMUST00000133286
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,171,830 T727S probably benign Het
Cyp4a12b A T 4: 115,433,996 I374F probably damaging Het
Ecel1 T C 1: 87,152,194 N399S probably damaging Het
Fpr-rs3 T C 17: 20,623,928 E317G probably damaging Het
Gm10030 T A 9: 111,006,390 noncoding transcript Het
Gm4884 A T 7: 41,043,405 Q266L probably damaging Het
Gpr45 C A 1: 43,032,656 A153E probably damaging Het
Hc A G 2: 35,013,670 F991L probably benign Het
Hif1a T G 12: 73,932,450 D249E probably damaging Het
Hsd17b12 A G 2: 94,045,398 L194P possibly damaging Het
Hspg2 T C 4: 137,518,645 S947P probably damaging Het
Kng1 G T 16: 23,060,494 probably null Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc4 T A 6: 28,830,880 K245N probably damaging Het
Mdga2 G A 12: 66,655,423 R335* probably null Het
Naa16 A T 14: 79,377,361 probably benign Het
Olfr57 T A 10: 79,035,042 M82K probably damaging Het
Olfr714 A G 7: 107,074,493 I222V probably damaging Het
Pipox A G 11: 77,881,206 L364P probably damaging Het
R3hdm4 C A 10: 79,912,091 A206S probably damaging Het
Rasgrf2 A G 13: 91,988,026 I589T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sdr16c5 T C 4: 4,016,354 E24G probably damaging Het
Sec24a T C 11: 51,709,034 I815V possibly damaging Het
Serpina16 A G 12: 103,675,302 Y55H probably damaging Het
Sirt2 C T 7: 28,778,946 R83C probably damaging Het
Sntg1 A T 1: 8,681,971 probably null Het
Stmn1 A G 4: 134,472,913 E99G probably damaging Het
Tas2r103 T C 6: 133,037,056 I16V possibly damaging Het
Vit A G 17: 78,619,627 K334E probably damaging Het
Washc4 T C 10: 83,581,369 I876T probably benign Het
Wrn A T 8: 33,317,563 V289D probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Ncbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Ncbp1 APN 4 46161307 missense probably damaging 1.00
IGL02085:Ncbp1 APN 4 46159699 missense probably damaging 0.96
IGL02561:Ncbp1 APN 4 46159711 missense possibly damaging 0.80
IGL02574:Ncbp1 APN 4 46168449 critical splice acceptor site probably null
IGL03371:Ncbp1 APN 4 46171991 nonsense probably null
R0549:Ncbp1 UTSW 4 46168476 missense possibly damaging 0.69
R0594:Ncbp1 UTSW 4 46170551 missense probably benign 0.00
R0699:Ncbp1 UTSW 4 46147528 missense probably benign 0.17
R0725:Ncbp1 UTSW 4 46152056 missense probably benign 0.01
R0961:Ncbp1 UTSW 4 46165193 missense possibly damaging 0.69
R1330:Ncbp1 UTSW 4 46167354 missense probably benign 0.19
R1622:Ncbp1 UTSW 4 46171963 missense possibly damaging 0.60
R1756:Ncbp1 UTSW 4 46169131 nonsense probably null
R2417:Ncbp1 UTSW 4 46168530 missense probably benign 0.20
R4050:Ncbp1 UTSW 4 46147483 missense probably damaging 0.99
R4132:Ncbp1 UTSW 4 46169241 nonsense probably null
R4516:Ncbp1 UTSW 4 46157824 missense probably damaging 1.00
R4795:Ncbp1 UTSW 4 46152967 missense possibly damaging 0.83
R4796:Ncbp1 UTSW 4 46152967 missense possibly damaging 0.83
R4960:Ncbp1 UTSW 4 46165273 nonsense probably null
R5557:Ncbp1 UTSW 4 46165259 missense probably benign 0.01
R5626:Ncbp1 UTSW 4 46161290 missense probably damaging 1.00
R5682:Ncbp1 UTSW 4 46170474 unclassified probably benign
R5859:Ncbp1 UTSW 4 46163026 missense probably benign 0.00
R6377:Ncbp1 UTSW 4 46150703 missense probably damaging 1.00
R6440:Ncbp1 UTSW 4 46147516 missense probably damaging 1.00
R6793:Ncbp1 UTSW 4 46157827 missense probably damaging 0.99
R7078:Ncbp1 UTSW 4 46155756 missense probably benign 0.00
R7434:Ncbp1 UTSW 4 46149910 missense probably damaging 1.00
R7445:Ncbp1 UTSW 4 46149914 missense probably damaging 0.98
R7477:Ncbp1 UTSW 4 46157897 missense probably damaging 1.00
R7670:Ncbp1 UTSW 4 46170015 missense probably damaging 0.96
R8424:Ncbp1 UTSW 4 46144839 missense probably benign
R8970:Ncbp1 UTSW 4 46170023 missense probably damaging 0.99
R9712:Ncbp1 UTSW 4 46144837 missense probably benign 0.03
X0013:Ncbp1 UTSW 4 46150702 missense possibly damaging 0.94
Posted On 2015-04-16