Mutagenetix > Incidental Mutation

Incidental Mutation 'R4960:Ncbp1'

382249

Institutional Source

Beutler Lab

Gene Symbol

Ncbp1

Ensembl Gene

ENSMUSG00000028330

Gene Name

nuclear cap binding protein subunit 1

Synonyms

MMRRC Submission

042557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46138613-46172403 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 46165273 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 529 (Q529*)

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 null
Transcript: ENSMUST00000030014
AA Change: Q529*

SMART Domains

Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: Q529*

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: ENSMUST00000133286

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	G	T	8: 105,283,211	R369S	probably damaging	Het
Abcc9	A	T	6: 142,620,783		probably null	Het
Adamts20	T	C	15: 94,379,774	H269R	probably benign	Het
Adamtsl1	C	T	4: 86,424,173	Q1642*	probably null	Het
Adamtsl3	A	C	7: 82,566,977	T863P	probably damaging	Het
Adcy3	G	T	12: 4,134,896	V191L	probably benign	Het
Akap9	G	T	5: 3,957,664	R244L	probably benign	Het
Als2cr12	T	A	1: 58,667,806	E234V	probably damaging	Het
Anapc1	C	T	2: 128,684,594	V95M	probably benign	Het
Arhgap17	G	T	7: 123,286,926		probably benign	Het
Arntl	T	A	7: 113,299,435		probably null	Het
Art2b	T	A	7: 101,580,230	Y154F	probably damaging	Het
Atrn	C	T	2: 130,995,047	R1144*	probably null	Het
Atxn3	T	C	12: 101,948,379	S29G	possibly damaging	Het
Batf3	C	T	1: 191,098,510	P18S	probably benign	Het
Bmpr1b	A	T	3: 141,870,785	C96S	probably damaging	Het
Bola1	A	G	3: 96,197,054	S75P	probably benign	Het
Btbd11	A	C	10: 85,651,662	N998T	probably benign	Het
Cela3a	G	A	4: 137,402,648	R221*	probably null	Het
Chat	A	G	14: 32,420,814	V406A	possibly damaging	Het
Chd1	T	A	17: 15,742,231	M750K	probably damaging	Het
Clip1	T	A	5: 123,654,003	K35*	probably null	Het
Cnr2	G	A	4: 135,917,607	G332D	probably benign	Het
Cnrip1	A	G	11: 17,052,228	D20G	probably damaging	Het
Col2a1	T	C	15: 97,976,149	Y1384C	unknown	Het
Col6a3	T	A	1: 90,804,218	I831F	probably damaging	Het
Cp	G	A	3: 19,973,797	V456I	probably damaging	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Ctbp2	T	C	7: 133,014,238	I323V	probably benign	Het
Ctnna2	C	T	6: 77,653,111	R120H	probably damaging	Het
Cyp2a12	A	G	7: 27,034,150	H318R	probably benign	Het
Cyp2c66	A	T	19: 39,163,322		probably null	Het
Cyp2j8	T	C	4: 96,507,377	T4A	probably benign	Het
Cyp4v3	A	G	8: 45,320,637	V165A	possibly damaging	Het
D5Ertd579e	G	A	5: 36,616,227	R275*	probably null	Het
Deup1	G	T	9: 15,600,968	Q160K	possibly damaging	Het
Dhx36	A	T	3: 62,496,859	I221K	probably damaging	Het
Dnah7b	T	A	1: 46,233,726	M2338K	probably benign	Het
Dync2li1	T	G	17: 84,633,541	L62V	probably benign	Het
Ephb3	A	G	16: 21,220,495	K367R	probably benign	Het
Etv3	A	G	3: 87,528,061	K80E	probably damaging	Het
Gdap1l1	T	C	2: 163,453,859	F346L	probably benign	Het
Gm12794	T	C	4: 101,941,464	Y211H	probably benign	Het
Gm4787	C	T	12: 81,379,316	V23M	probably damaging	Het
Greb1l	T	A	18: 10,547,306	I1508N	probably damaging	Het
Heatr5b	G	A	17: 78,831,584	T43I	probably benign	Het
Hephl1	T	C	9: 15,086,290	Y360C	probably damaging	Het
Itgam	A	C	7: 128,115,840	T865P	possibly damaging	Het
Kcnma1	T	C	14: 24,004,118		probably benign	Het
Kidins220	T	A	12: 24,992,260	C185*	probably null	Het
Klhl35	G	T	7: 99,469,068	G273V	probably damaging	Het
Lama5	A	G	2: 180,208,252		probably null	Het
Lamc3	A	G	2: 31,915,954	Q689R	probably benign	Het
Lnx2	C	T	5: 147,019,040	V649I	probably benign	Het
Lrrc43	A	G	5: 123,499,612	I281V	probably benign	Het
Ly6g6d	C	A	17: 35,071,754	A67S	probably benign	Het
Map1b	A	G	13: 99,432,212	S1334P	probably benign	Het
Marc2	T	A	1: 184,833,919	M186L	probably benign	Het
Mast1	T	A	8: 84,917,871	T810S	probably benign	Het
Mbnl1	A	G	3: 60,595,696	M1V	probably null	Het
Mc5r	T	G	18: 68,338,819	M83R	possibly damaging	Het
Mkln1	T	C	6: 31,459,006	F300S	probably damaging	Het
Mrgpre	A	T	7: 143,781,351	C138*	probably null	Het
Nrcam	A	G	12: 44,566,299	D591G	probably benign	Het
Nrxn3	A	T	12: 88,795,201	H6L	possibly damaging	Het
Nsmaf	T	A	4: 6,423,342	D342V	probably damaging	Het
Oip5	TGAGAAA	T	2: 119,617,861		probably benign	Het
Olfr1318	A	G	2: 112,156,352	T134A	probably benign	Het
Olfr202	A	G	16: 59,283,985	S171P	probably benign	Het
Olfr459	C	A	6: 41,772,069	V77F	probably damaging	Het
Olfr667	A	G	7: 104,916,708	I196T	probably benign	Het
Olfr794	A	C	10: 129,571,026	I124L	probably damaging	Het
Omt2a	T	A	9: 78,313,023	E31D	possibly damaging	Het
Phyhipl	A	G	10: 70,568,985	V131A	probably benign	Het
Pik3r5	A	G	11: 68,493,638	M619V	probably benign	Het
Ptprg	A	T	14: 12,237,837	E1431D	probably benign	Het
Rnf20	A	G	4: 49,638,029	T85A	probably damaging	Het
Rtn3	A	T	19: 7,456,521	I683K	probably damaging	Het
Rwdd3	A	G	3: 121,158,821	F174L	probably damaging	Het
Ryr1	T	C	7: 29,078,783	Q2096R	possibly damaging	Het
Scrn1	T	C	6: 54,534,422	D111G	probably damaging	Het
Sema3e	A	G	5: 14,252,632	R724G	possibly damaging	Het
She	A	G	3: 89,834,237	M232V	possibly damaging	Het
Slc25a54	A	T	3: 109,112,816	N382I	possibly damaging	Het
Slc26a2	T	C	18: 61,198,803	M519V	probably damaging	Het
Slc9a1	T	A	4: 133,370,656	L38H	probably damaging	Het
Slc9a3r1	A	G	11: 115,176,463	D180G	probably benign	Het
Snap47	A	T	11: 59,428,543	D256E	probably damaging	Het
Tacc3	A	G	5: 33,671,982	T610A	probably benign	Het
Tbc1d30	G	A	10: 121,267,216	T637M	probably benign	Het
Tbcd	T	A	11: 121,573,855	M572K	probably benign	Het
Thoc7	A	T	14: 13,953,460	D68E	probably benign	Het
Tmpo	G	A	10: 91,153,309	T250M	probably damaging	Het
Tmtc1	TGTCCGCCAGGCCCTTGCCCCAGAAGTC	TGTC	6: 148,443,947		probably benign	Het
Tnfaip1	A	T	11: 78,527,570	C224S	possibly damaging	Het
Tshz1	T	C	18: 84,014,862	T474A	probably benign	Het
Tspoap1	C	T	11: 87,766,396	Q345*	probably null	Het
Ttc21a	A	G	9: 119,945,001	E258G	possibly damaging	Het
Ttc37	T	A	13: 76,185,156	V1508E	possibly damaging	Het
Ttyh1	T	C	7: 4,128,226	L232P	probably damaging	Het
Usp2	T	A	9: 44,075,813	L136Q	probably damaging	Het
Usp31	T	C	7: 121,648,645	S1192G	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
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
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'- CTGATCTTGGGCTGAAGTATGC -3'
(R):5'- CTCTCCCCAGGAATTTTAGGGC -3'

Sequencing Primer
(F):5'- ATAACAAACTTGGTTTAGCTGCTCC -3'
(R):5'- CCCAGGAATTTTAGGGCCTCTTAG -3'

Posted On

2016-04-27