Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02561:Ncbp1'

298649

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02561

Quality Score

Status

Chromosome

Chromosomal Location

46138613-46172403 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46159711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 408 (T408M)

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

possibly damaging
Transcript: ENSMUST00000030014
AA Change: T408M

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: T408M

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 104,977,670	Q49L	probably benign	Het
Aifm2	A	G	10: 61,726,007	D44G	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cmya5	T	C	13: 93,091,858	T2241A	probably benign	Het
Cntn4	C	T	6: 106,523,509	P316S	probably damaging	Het
Ctnna2	G	T	6: 77,845,580	S13R	probably benign	Het
Cyb5a	G	A	18: 84,871,512	G46D	probably damaging	Het
Daam1	T	C	12: 71,946,516	V353A	unknown	Het
Ddx6	C	T	9: 44,634,168	T417I	probably damaging	Het
Fcgbp	C	T	7: 28,101,174		probably benign	Het
Gdi2	T	C	13: 3,548,954	I46T	possibly damaging	Het
Gm3629	T	C	14: 6,590,618		probably benign	Het
Grap2	A	T	15: 80,647,848		probably benign	Het
Gsto2	T	C	19: 47,886,190		probably benign	Het
Gtf2a1	A	T	12: 91,575,753	D57E	possibly damaging	Het
Hif1a	A	G	12: 73,942,206	I622M	possibly damaging	Het
Hmcn1	T	C	1: 150,809,726	T328A	probably benign	Het
Ighv1-54	T	C	12: 115,193,769	K86R	probably benign	Het
Igkv4-55	C	T	6: 69,607,376	S84N	probably damaging	Het
Ilvbl	T	C	10: 78,577,144	S167P	probably benign	Het
Kcnn2	A	G	18: 45,592,192	I252V	possibly damaging	Het
Lss	T	C	10: 76,540,430		probably benign	Het
Mlip	C	A	9: 77,181,351		probably null	Het
Notch4	A	G	17: 34,568,160		probably benign	Het
Npepps	A	T	11: 97,229,849	C528*	probably null	Het
Nxf2	T	C	X: 134,956,452	T163A	probably benign	Het
Olfr1224-ps1	T	C	2: 89,157,141	I11M	possibly damaging	Het
Phka1	A	T	X: 102,598,289		probably benign	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Robo3	A	G	9: 37,427,091	S343P	possibly damaging	Het
Smarca2	A	G	19: 26,716,182	D1262G	possibly damaging	Het
Spns1	C	T	7: 126,373,769		probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Ttpal	A	G	2: 163,607,449	T75A	probably damaging	Het
Usp34	A	G	11: 23,351,652	T359A	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zic2	A	T	14: 122,478,545	K360*	probably null	Het

Other mutations in Ncbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Ncbp1	APN	4	46161307	missense	probably damaging	1.00
IGL02085:Ncbp1	APN	4	46159699	missense	probably damaging	0.96
IGL02230:Ncbp1	APN	4	46165272	missense	probably benign	0.03
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