Mutagenetix > Incidental Mutation

Incidental Mutation 'R0961:Ncbp1'

81869

Institutional Source

Beutler Lab

Gene Symbol

Ncbp1

Ensembl Gene

ENSMUSG00000028330

Gene Name

nuclear cap binding protein subunit 1

Synonyms

MMRRC Submission

039090-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46138613-46172403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46165193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 502 (L502P)

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: L502P

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: L502P

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

Meta Mutation Damage Score

0.0632

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.6%
20x: 89.7%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,686 (GRCm39)	S331A	probably benign	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4933412E24Rik	T	C	15: 59,887,160 (GRCm39)	I427V	probably benign	Het
Abca15	A	T	7: 119,960,208 (GRCm39)	K664*	probably null	Het
Adcy8	A	G	15: 64,626,711 (GRCm39)	V709A	possibly damaging	Het
Aox1	T	A	1: 58,349,230 (GRCm39)	D665E	probably benign	Het
Arhgap22	C	T	14: 33,089,070 (GRCm39)	T352M	probably damaging	Het
Atg9a	G	A	1: 75,163,390 (GRCm39)	L237F	probably damaging	Het
Ccdc178	T	G	18: 22,152,098 (GRCm39)	K672T	possibly damaging	Het
Ccdc63	T	G	5: 122,249,009 (GRCm39)	K440T	possibly damaging	Het
Cd55b	A	T	1: 130,341,813 (GRCm39)	W275R	probably damaging	Het
Col4a3	T	C	1: 82,686,297 (GRCm39)		probably benign	Het
Dmpk	C	G	7: 18,821,195 (GRCm39)	D204E	probably damaging	Het
Egfr	T	C	11: 16,812,964 (GRCm39)	V148A	probably damaging	Het
F11	A	T	8: 45,694,531 (GRCm39)	V610E	probably damaging	Het
Fam83b	A	T	9: 76,398,577 (GRCm39)	I842N	probably damaging	Het
Fbxw9	T	C	8: 85,788,658 (GRCm39)	Y165H	probably benign	Het
Fzd6	C	T	15: 38,889,073 (GRCm39)	L64F	probably damaging	Het
Galntl6	A	T	8: 59,364,374 (GRCm39)	H45Q	probably benign	Het
Gbp7	C	A	3: 142,247,318 (GRCm39)	S276*	probably null	Het
Gnb5	A	T	9: 75,242,933 (GRCm39)	I168F	probably damaging	Het
Gon4l	T	C	3: 88,805,403 (GRCm39)		probably benign	Het
Gpat4	C	T	8: 23,670,927 (GRCm39)	C95Y	probably damaging	Het
Gstm7	T	A	3: 107,834,302 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,755,745 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kank4	G	A	4: 98,644,756 (GRCm39)	R999W	probably benign	Het
Kdm2a	A	G	19: 4,379,219 (GRCm39)	V92A	probably benign	Het
Klhl9	T	C	4: 88,639,974 (GRCm39)	D89G	probably benign	Het
Klre1	A	G	6: 129,559,378 (GRCm39)	T103A	probably benign	Het
Lamc1	CGCTGGC	CGC	1: 153,097,392 (GRCm39)		probably null	Het
Lamc1	G	T	1: 153,097,446 (GRCm39)	L1533I	probably benign	Het
Lca5l	T	C	16: 95,962,560 (GRCm39)	H455R	possibly damaging	Het
Lmo7	C	A	14: 102,031,705 (GRCm39)	T33K	probably benign	Het
Lrig1	A	G	6: 94,640,895 (GRCm39)		probably benign	Het
Mep1b	T	A	18: 21,221,786 (GRCm39)	Y245*	probably null	Het
Mettl24	A	G	10: 40,686,615 (GRCm39)	T331A	possibly damaging	Het
Mycbp2	A	C	14: 103,422,271 (GRCm39)	D2467E	probably damaging	Het
Myo15b	T	C	11: 115,773,280 (GRCm39)	S1871P	probably benign	Het
Npr1	T	C	3: 90,366,028 (GRCm39)	N588D	possibly damaging	Het
Or2g7	T	A	17: 38,378,814 (GRCm39)	Y251N	probably damaging	Het
Or8k16	A	T	2: 85,519,790 (GRCm39)	T6S	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Phactr4	A	G	4: 132,105,731 (GRCm39)	S112P	probably benign	Het
R3hdm1	C	T	1: 128,121,333 (GRCm39)	T279I	probably benign	Het
Rere	A	G	4: 150,699,829 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,709,122 (GRCm39)	E4779V	unknown	Het
Sh2d4b	A	G	14: 40,596,139 (GRCm39)	V81A	probably benign	Het
Slc10a5	T	C	3: 10,399,484 (GRCm39)	H392R	probably benign	Het
Slc26a4	T	C	12: 31,585,618 (GRCm39)	T477A	probably benign	Het
Spata31d1b	T	C	13: 59,865,618 (GRCm39)	V922A	possibly damaging	Het
Sptan1	T	A	2: 29,870,075 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,523,920 (GRCm39)	D705G	probably benign	Het
Tdpoz3	T	A	3: 93,734,188 (GRCm39)	S288T	probably benign	Het
Tsga10	A	G	1: 37,800,509 (GRCm39)		probably null	Het
Usp18	G	A	6: 121,238,452 (GRCm39)	A200T	probably benign	Het
Zfp759	A	T	13: 67,287,927 (GRCm39)	T493S	probably benign	Het

Other mutations in Ncbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Ncbp1	APN	4	46,161,307 (GRCm39)	missense	probably damaging	1.00
IGL02085:Ncbp1	APN	4	46,159,699 (GRCm39)	missense	probably damaging	0.96
IGL02230:Ncbp1	APN	4	46,165,272 (GRCm39)	missense	probably benign	0.03
IGL02561:Ncbp1	APN	4	46,159,711 (GRCm39)	missense	possibly damaging	0.80
IGL02574:Ncbp1	APN	4	46,168,449 (GRCm39)	critical splice acceptor site	probably null
IGL03371:Ncbp1	APN	4	46,171,991 (GRCm39)	nonsense	probably null
R0549:Ncbp1	UTSW	4	46,168,476 (GRCm39)	missense	possibly damaging	0.69
R0594:Ncbp1	UTSW	4	46,170,551 (GRCm39)	missense	probably benign	0.00
R0699:Ncbp1	UTSW	4	46,147,528 (GRCm39)	missense	probably benign	0.17
R0725:Ncbp1	UTSW	4	46,152,056 (GRCm39)	missense	probably benign	0.01
R1330:Ncbp1	UTSW	4	46,167,354 (GRCm39)	missense	probably benign	0.19
R1622:Ncbp1	UTSW	4	46,171,963 (GRCm39)	missense	possibly damaging	0.60
R1756:Ncbp1	UTSW	4	46,169,131 (GRCm39)	nonsense	probably null
R2417:Ncbp1	UTSW	4	46,168,530 (GRCm39)	missense	probably benign	0.20
R4050:Ncbp1	UTSW	4	46,147,483 (GRCm39)	missense	probably damaging	0.99
R4132:Ncbp1	UTSW	4	46,169,241 (GRCm39)	nonsense	probably null
R4516:Ncbp1	UTSW	4	46,157,824 (GRCm39)	missense	probably damaging	1.00
R4795:Ncbp1	UTSW	4	46,152,967 (GRCm39)	missense	possibly damaging	0.83
R4796:Ncbp1	UTSW	4	46,152,967 (GRCm39)	missense	possibly damaging	0.83
R4960:Ncbp1	UTSW	4	46,165,273 (GRCm39)	nonsense	probably null
R5557:Ncbp1	UTSW	4	46,165,259 (GRCm39)	missense	probably benign	0.01
R5626:Ncbp1	UTSW	4	46,161,290 (GRCm39)	missense	probably damaging	1.00
R5682:Ncbp1	UTSW	4	46,170,474 (GRCm39)	unclassified	probably benign
R5859:Ncbp1	UTSW	4	46,163,026 (GRCm39)	missense	probably benign	0.00
R6377:Ncbp1	UTSW	4	46,150,703 (GRCm39)	missense	probably damaging	1.00
R6440:Ncbp1	UTSW	4	46,147,516 (GRCm39)	missense	probably damaging	1.00
R6793:Ncbp1	UTSW	4	46,157,827 (GRCm39)	missense	probably damaging	0.99
R7078:Ncbp1	UTSW	4	46,155,756 (GRCm39)	missense	probably benign	0.00
R7434:Ncbp1	UTSW	4	46,149,910 (GRCm39)	missense	probably damaging	1.00
R7445:Ncbp1	UTSW	4	46,149,914 (GRCm39)	missense	probably damaging	0.98
R7477:Ncbp1	UTSW	4	46,157,897 (GRCm39)	missense	probably damaging	1.00
R7670:Ncbp1	UTSW	4	46,170,015 (GRCm39)	missense	probably damaging	0.96
R8424:Ncbp1	UTSW	4	46,144,839 (GRCm39)	missense	probably benign
R8970:Ncbp1	UTSW	4	46,170,023 (GRCm39)	missense	probably damaging	0.99
R9712:Ncbp1	UTSW	4	46,144,837 (GRCm39)	missense	probably benign	0.03
X0013:Ncbp1	UTSW	4	46,150,702 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGCCCTCATCTTGGCGATGTTC -3'
(R):5'- GGCAGACTGTGTGACCACCAATAG -3'

Sequencing Primer
(F):5'- GTACTGACACTGAGTGTAACTAACC -3'
(R):5'- CCAATAGGTCACCACAGAGC -3'

Posted On

2013-11-08