Mutagenetix > Incidental Mutation

Incidental Mutation 'R0594:Ncbp1'

56093

Institutional Source

Beutler Lab

Gene Symbol

Ncbp1

Ensembl Gene

ENSMUSG00000028330

Gene Name

nuclear cap binding protein subunit 1

Synonyms

MMRRC Submission

038784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46138613-46172403 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46170551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 742 (N742S)

Ref Sequence

ENSEMBL: ENSMUSP00000030014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030013] [ENSMUST00000030014] [ENSMUST00000058232] [ENSMUST00000132358]

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: ENSMUST00000030013

SMART Domains

Protein: ENSMUSP00000030013
Gene: ENSMUSG00000028329

Domain	Start	End	E-Value	Type
low complexity region	32	55	N/A	INTRINSIC
Pfam:XPA_N	99	132	1.5e-20	PFAM
Pfam:XPA_C	133	185	3.7e-28	PFAM
low complexity region	212	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030014
AA Change: N742S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: N742S

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

probably benign
Transcript: ENSMUST00000132358

SMART Domains

Protein: ENSMUSP00000138512
Gene: ENSMUSG00000028329

Domain	Start	End	E-Value	Type
Pfam:XPA_N	1	23	1.1e-13	PFAM
Pfam:XPA_C	24	76	7.9e-29	PFAM
low complexity region	103	114	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141318

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

99% (119/120)

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,389,880	V41A	probably benign	Het
Acad11	A	G	9: 104,095,563	Q367R	probably benign	Het
Ackr4	A	G	9: 104,099,004	V248A	possibly damaging	Het
Adamts14	T	C	10: 61,202,887	E945G	probably damaging	Het
Akap2	A	G	4: 57,856,752	T694A	probably benign	Het
Ano2	A	G	6: 125,982,765	M663V	probably damaging	Het
Apc2	T	A	10: 80,306,256	C336*	probably null	Het
Arhgap17	A	G	7: 123,294,518	S560P	probably benign	Het
Arl5a	T	C	2: 52,405,014	D128G	probably damaging	Het
Atp6v0a2	C	A	5: 124,717,982	R678S	probably benign	Het
B4galnt2	C	A	11: 95,891,909	A26S	probably benign	Het
C1qtnf1	A	T	11: 118,446,628	T95S	possibly damaging	Het
Ccdc188	T	A	16: 18,218,920	F241L	probably benign	Het
Cdh19	A	T	1: 110,925,867	D281E	probably benign	Het
Cdk5rap2	T	C	4: 70,354,813	E241G	probably damaging	Het
Cherp	A	T	8: 72,462,402		probably null	Het
Cpne9	T	A	6: 113,290,400		probably benign	Het
Cthrc1	A	T	15: 39,077,142	R47W	possibly damaging	Het
Dcaf13	A	G	15: 39,123,268	E145G	probably benign	Het
Dcaf4	T	A	12: 83,538,043		probably null	Het
Dgka	A	C	10: 128,733,110		probably benign	Het
Dhrs13	T	A	11: 78,034,525	F157L	probably damaging	Het
Dnajb5	A	T	4: 42,956,577	Y88F	probably damaging	Het
Dpp8	A	G	9: 65,036,998	T16A	probably damaging	Het
Dscc1	A	T	15: 55,089,052	I91K	possibly damaging	Het
Efemp2	T	A	19: 5,475,063		probably benign	Het
Elf2	T	C	3: 51,256,453	T504A	possibly damaging	Het
Elk3	G	A	10: 93,265,160	S243F	probably damaging	Het
Ell2	A	G	13: 75,749,993	D93G	probably damaging	Het
Eln	G	T	5: 134,712,398		probably benign	Het
Eme1	C	T	11: 94,650,430	D189N	possibly damaging	Het
Epb41l2	A	G	10: 25,443,770	E167G	possibly damaging	Het
Exoc5	A	T	14: 49,036,087		probably benign	Het
Fam129c	C	A	8: 71,599,135	A38E	probably benign	Het
Fam170b	A	G	14: 32,836,314	K369E	unknown	Het
Fam187b	T	A	7: 30,977,154	C29*	probably null	Het
Fam20c	T	C	5: 138,766,637	S260P	possibly damaging	Het
Fam216b	G	A	14: 78,086,674	A21V	possibly damaging	Het
Fam98a	A	T	17: 75,538,487	Y421*	probably null	Het
Farp2	T	C	1: 93,576,500	V333A	probably damaging	Het
Fcgr1	T	C	3: 96,292,312	Y93C	probably damaging	Het
Fgd2	A	T	17: 29,365,552	I157F	probably damaging	Het
Frmd4b	T	A	6: 97,325,426		probably benign	Het
Fut9	T	C	4: 25,620,526	D96G	possibly damaging	Het
Glt8d1	G	A	14: 31,010,410		probably null	Het
Gm7579	T	A	7: 142,212,384	C176S	unknown	Het
Gmpr2	A	G	14: 55,677,988	E272G	probably damaging	Het
Grin2b	T	C	6: 135,733,929	H873R	probably damaging	Het
Gtf2i	C	T	5: 134,242,173		probably benign	Het
Htr3b	A	T	9: 48,947,631	V69E	probably benign	Het
Icam5	A	G	9: 21,035,598	N474S	probably benign	Het
Itgal	T	A	7: 127,314,060	S610T	probably damaging	Het
Jag1	T	A	2: 137,087,080	I819L	probably damaging	Het
Kif9	A	T	9: 110,511,340	E467V	probably benign	Het
Krit1	T	C	5: 3,823,694	L491P	possibly damaging	Het
Lipo2	T	G	19: 33,746,902	I155L	possibly damaging	Het
Lmbr1	A	G	5: 29,292,209	F65L	possibly damaging	Het
Lsp1	G	A	7: 142,488,950		probably benign	Het
Marc2	T	C	1: 184,841,339	N121D	probably benign	Het
Mgat5	T	A	1: 127,412,248	D455E	probably damaging	Het
Mical2	A	T	7: 112,318,450	Y338F	probably damaging	Het
Mkl1	G	A	15: 81,017,174	T372I	probably damaging	Het
Mre11a	T	G	9: 14,815,209	S396A	probably benign	Het
Myo3a	C	T	2: 22,544,332		probably benign	Het
Naca	T	C	10: 128,040,355		probably benign	Het
Nav1	A	T	1: 135,467,643	I996K	possibly damaging	Het
Ndufaf3	G	A	9: 108,566,923	A2V	probably benign	Het
Ntn5	G	T	7: 45,686,681	A47S	probably damaging	Het
Olfr1122	T	A	2: 87,387,954	I83N	probably damaging	Het
Olfr13	T	A	6: 43,174,607	V207E	possibly damaging	Het
Olfr1502	G	T	19: 13,862,279	C162F	probably benign	Het
Olfr384	G	A	11: 73,603,392	E271K	probably benign	Het
Olfr392	T	C	11: 73,814,617	H155R	probably benign	Het
Olfr777	T	C	10: 129,269,152	Y57C	possibly damaging	Het
Otud7a	T	A	7: 63,727,472	L203*	probably null	Het
Pcdhb13	A	G	18: 37,443,931	Y454C	probably damaging	Het
Pdzph1	C	T	17: 58,954,479	V853M	possibly damaging	Het
Plec	A	G	15: 76,172,253	S4517P	probably damaging	Het
Pm20d2	C	T	4: 33,181,746	E286K	probably damaging	Het
Polr2i	T	A	7: 30,232,745		probably null	Het
Ppp1r12b	A	G	1: 134,776,479	L879P	probably damaging	Het
Prf1	C	A	10: 61,303,722	Y486*	probably null	Het
Qsox2	T	G	2: 26,214,044	T325P	probably damaging	Het
Rab1b	G	T	19: 5,100,656		probably benign	Het
Rbm19	T	C	5: 120,128,316		probably null	Het
Rhobtb2	A	G	14: 69,793,948	V576A	probably benign	Het
Rnps1	G	A	17: 24,424,437	V215M	probably damaging	Het
Rps11	A	G	7: 45,124,282		probably benign	Het
Serpinb3d	C	T	1: 107,079,347	M210I	probably damaging	Het
Sgsm1	T	C	5: 113,310,562	T17A	probably benign	Het
Slc6a3	A	G	13: 73,538,642	T43A	probably damaging	Het
Sox4	C	G	13: 28,952,904	A40P	probably damaging	Het
Spry2	A	T	14: 105,893,310	D147E	possibly damaging	Het
Stpg1	A	G	4: 135,519,431	N157D	possibly damaging	Het
Sumf1	T	C	6: 108,173,414	D152G	probably benign	Het
Tbr1	T	C	2: 61,811,620	S410P	possibly damaging	Het
Tdrd6	A	G	17: 43,629,383	V258A	probably damaging	Het
Tirap	C	T	9: 35,188,761	G209D	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,861	V134D	probably damaging	Het
Tnr	A	G	1: 159,850,335	T97A	probably benign	Het
Tspan32	T	A	7: 143,015,610	F135L	probably damaging	Het
Ttn	T	C	2: 76,789,056	K16021E	probably damaging	Het
Tusc3	T	A	8: 39,096,968	I251N	probably damaging	Het
Usp38	A	T	8: 81,005,366	I305N	probably damaging	Het
Usp4	T	A	9: 108,370,881		probably null	Het
Usp5	A	T	6: 124,817,424	D764E	probably damaging	Het
Vangl2	A	T	1: 172,004,657	V544E	probably damaging	Het
Vldlr	G	A	19: 27,234,819	V78M	probably damaging	Het
Vmn1r29	T	C	6: 58,307,772	V159A	probably benign	Het
Vmn2r16	T	A	5: 109,363,896	F656L	probably damaging	Het
Wdfy3	T	A	5: 101,906,185	I1590F	possibly damaging	Het
Xpo1	T	A	11: 23,280,402	V263E	probably damaging	Het
Zbtb38	A	G	9: 96,685,954	S1026P	probably damaging	Het
Zfp407	A	T	18: 84,562,567	D140E	possibly damaging	Het
Zfp637	T	A	6: 117,845,686	Y258*	probably null	Het
Zfp951	T	A	5: 104,814,572	Q376L	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GCTATTCGACAACGTGTCACAGCC -3'
(R):5'- GTGGTAAGAGTCACAATCTGGTCTCG -3'

Sequencing Primer
(F):5'- TTTCTACAAGAGGCTACAGGAC -3'
(R):5'- GAGCACGACAGACTAGTGTTTTAC -3'

Posted On

2013-07-11