Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03371:Ncbp1'

420295

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 #

IGL03371

Quality Score

Status

Chromosome

Chromosomal Location

46138613-46172403 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 46171991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 786 (C786*)

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 null
Transcript: ENSMUST00000030014
AA Change: C786*

SMART Domains

Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: C786*

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agk	C	T	6: 40,394,642	R358C	probably benign	Het
Ahnak	G	T	19: 9,004,228	V959F	possibly damaging	Het
Aoc1	C	T	6: 48,906,446	R419C	probably benign	Het
Brf2	T	C	8: 27,125,844	D171G	probably benign	Het
Cnot1	T	C	8: 95,774,716	I75V	possibly damaging	Het
D430041D05Rik	A	G	2: 104,248,374	V1199A	probably damaging	Het
Dpp9	G	A	17: 56,187,377	H861Y	probably benign	Het
Eddm3b	G	A	14: 51,116,965	D137N	probably damaging	Het
Erich3	A	T	3: 154,727,477	I363F	probably damaging	Het
F13b	T	A	1: 139,506,936	C147S	probably damaging	Het
Fam186b	T	C	15: 99,280,377	E356G	probably benign	Het
Fat2	T	A	11: 55,311,164	R361S	probably benign	Het
Fat4	A	T	3: 38,983,187	I3663F	possibly damaging	Het
Haus3	C	A	5: 34,166,343	E308*	probably null	Het
Ifna11	A	G	4: 88,820,175	K73E	probably benign	Het
Itga10	A	G	3: 96,654,788	K664E	possibly damaging	Het
L3mbtl4	G	A	17: 68,461,568	V224M	probably damaging	Het
Mcf2l	C	A	8: 13,001,298	A378D	probably damaging	Het
Mixl1	T	C	1: 180,694,626	N230S	probably benign	Het
Nup153	C	T	13: 46,683,152	S1327N	probably benign	Het
Olfr1049	A	T	2: 86,255,591	I34N	possibly damaging	Het
Olfr1255	A	T	2: 89,817,165	T280S	possibly damaging	Het
Osr2	C	A	15: 35,300,854	Y185*	probably null	Het
Ppp1r3b	T	C	8: 35,384,249	F81L	possibly damaging	Het
Ppp3r2	T	A	4: 49,681,630	I107F	probably damaging	Het
Rin2	G	A	2: 145,885,926		probably benign	Het
Rpap1	A	T	2: 119,775,057		probably benign	Het
Slc12a4	A	G	8: 105,950,505	Y466H	probably null	Het
Slc25a40	C	T	5: 8,427,442	P9L	probably benign	Het
Slc27a1	T	C	8: 71,585,408	S567P	probably benign	Het
Sox8	G	A	17: 25,567,440	R430C	probably damaging	Het
Tacc2	T	C	7: 130,626,061	V1492A	possibly damaging	Het
Taf5l	A	G	8: 123,997,986	S365P	possibly damaging	Het
Tet2	T	A	3: 133,467,551	H1650L	possibly damaging	Het
Tmem117	G	A	15: 95,011,393	R229H	probably damaging	Het
Ttc17	A	G	2: 94,386,105	L79P	probably damaging	Het
Usp54	A	T	14: 20,589,368		probably benign	Het
Zfp455	T	A	13: 67,207,002	C111*	probably null	Het
Zmym4	A	C	4: 126,915,088	C389G	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
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

2016-08-02