Mutagenetix > Incidental Mutation

Incidental Mutation 'R0725:Ncbp1'

218368

Institutional Source

Beutler Lab

Gene Symbol

Ncbp1

Ensembl Gene

ENSMUSG00000028330

Gene Name

nuclear cap binding protein subunit 1

Synonyms

MMRRC Submission

038907-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0725 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

46138613-46172403 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46152056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 218 (T218A)

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: T218A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: T218A

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

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

100% (70/70)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	T	9: 8,027,143	D131E	probably damaging	Het
Asph	C	T	4: 9,542,275	D305N	probably damaging	Het
Atp13a3	T	C	16: 30,351,387	K327R	probably damaging	Het
Cacna1s	T	C	1: 136,098,526		probably benign	Het
Ccnk	T	C	12: 108,195,575		probably benign	Het
Cep55	T	C	19: 38,060,174	S93P	possibly damaging	Het
Cfh	A	G	1: 140,157,343		probably benign	Het
Clptm1l	A	G	13: 73,606,343	T129A	probably benign	Het
Cntnap5a	A	G	1: 116,292,476	E672G	probably benign	Het
Cpped1	C	A	16: 11,828,450	W170L	probably damaging	Het
Crygb	T	C	1: 65,081,941	I76V	probably benign	Het
Cyp3a25	A	G	5: 145,994,936	S121P	probably damaging	Het
Cyp4b1	T	C	4: 115,626,827	D395G	probably damaging	Het
Dll4	T	C	2: 119,332,689	V597A	probably damaging	Het
Dock7	T	C	4: 98,945,291	D1891G	probably damaging	Het
Dsel	T	C	1: 111,859,952	D951G	possibly damaging	Het
Dync2h1	C	A	9: 7,015,497	V3603F	possibly damaging	Het
Fam109a	T	A	5: 121,853,251	H225Q	probably benign	Het
Fam129a	A	G	1: 151,706,015	E454G	probably benign	Het
Fam167b	C	A	4: 129,578,285	A31S	probably damaging	Het
Fgfrl1	T	A	5: 108,704,673	I25N	probably damaging	Het
Gzf1	C	T	2: 148,684,649	R347*	probably null	Het
Heatr5b	T	A	17: 78,796,396	I1117F	probably benign	Het
Kntc1	T	C	5: 123,769,704	V456A	possibly damaging	Het
Macc1	C	A	12: 119,447,516	S673*	probably null	Het
Mpp4	T	C	1: 59,121,422	E574G	probably damaging	Het
Muc20	C	T	16: 32,793,488	M506I	probably benign	Het
Nfxl1	A	T	5: 72,559,130	V46E	probably benign	Het
Nfyc	G	T	4: 120,768,734		probably benign	Het
Olfr561	T	A	7: 102,774,532	S3T	probably benign	Het
Olfr972	A	T	9: 39,873,347	Q24L	probably damaging	Het
Osbpl8	T	C	10: 111,286,240	F681S	possibly damaging	Het
Pcm1	G	C	8: 41,287,811	E1031D	probably damaging	Het
Pdcd11	A	G	19: 47,127,291	E1486G	probably benign	Het
Pex12	G	T	11: 83,298,034	A45E	probably damaging	Het
Pigm	A	G	1: 172,376,817	D40G	probably damaging	Het
Pkp1	G	T	1: 135,880,740	N496K	probably benign	Het
Psmc4	T	C	7: 28,048,862	I54V	probably benign	Het
Rbm33	T	C	5: 28,394,483	V951A	unknown	Het
Selenbp2	G	T	3: 94,697,502		probably benign	Het
Slc3a1	G	A	17: 85,060,835	W510*	probably null	Het
Stx12	A	C	4: 132,857,390		probably benign	Het
Tas2r125	G	T	6: 132,910,122	D158Y	probably benign	Het
Tchp	C	A	5: 114,719,621	Q392K	probably benign	Het
Tmed11	T	A	5: 108,778,989	D139V	probably damaging	Het
Ttn	C	T	2: 76,748,310	V24080M	probably damaging	Het
Ush2a	G	A	1: 188,951,525	G4967D	probably damaging	Het
Vezf1	T	C	11: 88,073,330	S103P	probably benign	Het
Xpnpep3	T	C	15: 81,430,842	S248P	probably damaging	Het
Yipf2	G	C	9: 21,592,223		probably null	Het
Zfp110	A	T	7: 12,836,363	Q39L	possibly damaging	Het
Zfp287	A	T	11: 62,714,213	C623S	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACAGATGTCAGTAACACAGTGTGTGAA -3'
(R):5'- AGACGTACAAGTACAACAGGCTGAAC -3'

Sequencing Primer
(F):5'- ggttcctggtacgataaacaag -3'
(R):5'- gcagcacacaatccacag -3'

Posted On

2014-08-01