Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Ncbp1'

592085

Institutional Source

Beutler Lab

Gene Symbol

Ncbp1

Ensembl Gene

ENSMUSG00000028330

Gene Name

nuclear cap binding protein subunit 1

Synonyms

MMRRC Submission

045742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46138613-46172403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46170015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 696 (Q696R)

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 damaging
Transcript: ENSMUST00000030014
AA Change: Q696R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: Q696R

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

0.0682

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,023,190 (GRCm39)	H100L	probably benign	Het
Adgrf2	T	C	17: 43,022,263 (GRCm39)	N187S	probably damaging	Het
Adipoq	T	A	16: 22,976,332 (GRCm39)	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,373,845 (GRCm39)	S209T	probably benign	Het
Arrdc3	C	T	13: 81,037,212 (GRCm39)	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,579,865 (GRCm39)	N212D	probably benign	Het
Ccr9	A	T	9: 123,608,371 (GRCm39)	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 179,892,646 (GRCm39)	V270D	probably damaging	Het
Clic4	A	G	4: 134,944,516 (GRCm39)	Y220H	probably damaging	Het
Cntln	A	C	4: 84,897,577 (GRCm39)	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,538,925 (GRCm39)	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,408,925 (GRCm39)	N103D	probably benign	Het
Ddx60	T	C	8: 62,428,826 (GRCm39)	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,378 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,148,462 (GRCm39)	D279E	probably benign	Het
Eif1ad10	T	C	12: 88,216,524 (GRCm39)	N116S	probably benign	Het
Fam117a	A	G	11: 95,269,660 (GRCm39)	N308S	probably benign	Het
Fasn	A	G	11: 120,704,245 (GRCm39)	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,678,802 (GRCm39)	S625P	probably benign	Het
Gemin5	A	G	11: 58,038,754 (GRCm39)	V585A	probably benign	Het
Gm5145	C	A	17: 20,790,646 (GRCm39)	P8Q	probably benign	Het
Herc1	C	A	9: 66,323,629 (GRCm39)	T1381K	probably damaging	Het
Herc6	T	C	6: 57,637,107 (GRCm39)	I824T	probably damaging	Het
Klrb1	C	T	6: 128,687,050 (GRCm39)	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,799,258 (GRCm39)	N154D	not run	Het
Lcp1	A	T	14: 75,437,871 (GRCm39)	I94F	probably benign	Het
Lin7a	A	T	10: 107,218,552 (GRCm39)	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,846,351 (GRCm39)	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,834,517 (GRCm39)	V859A	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nme8	T	C	13: 19,842,999 (GRCm39)	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,349,414 (GRCm39)		probably null	Het
Nuggc	A	G	14: 65,850,975 (GRCm39)	I298V	probably damaging	Het
Nup155	A	C	15: 8,183,180 (GRCm39)	K1247Q	probably damaging	Het
Or1a1	A	G	11: 74,087,033 (GRCm39)	K235E	probably damaging	Het
Or5c1	A	T	2: 37,221,771 (GRCm39)	E4V	probably benign	Het
Otud4	T	A	8: 80,382,493 (GRCm39)		probably null	Het
Pacc1	A	G	1: 191,073,065 (GRCm39)	N162S	probably benign	Het
Pcdhb18	T	C	18: 37,624,749 (GRCm39)	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,727,210 (GRCm39)	F1108L	probably benign	Het
Prkca	A	T	11: 107,905,170 (GRCm39)	N189K	probably damaging	Het
Rbm24	A	G	13: 46,582,683 (GRCm39)	I201V	probably benign	Het
Reep6	T	C	10: 80,169,627 (GRCm39)	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,126 (GRCm39)		probably benign	Het
Rev3l	C	T	10: 39,712,718 (GRCm39)	T2382I	probably benign	Het
Rnf31	A	G	14: 55,831,818 (GRCm39)	N230S	probably benign	Het
Rreb1	T	C	13: 38,115,548 (GRCm39)	L969P	probably benign	Het
Rsph4a	T	A	10: 33,785,029 (GRCm39)	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,183,525 (GRCm39)	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,758,157 (GRCm39)	V232D	probably damaging	Het
Stmn2	T	C	3: 8,619,925 (GRCm39)	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424 (GRCm39)	G1373D	probably damaging	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tns1	C	A	1: 73,991,636 (GRCm39)	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620 (GRCm38)	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,373,324 (GRCm39)	C768*	probably null	Het
Ubl7	A	T	9: 57,837,052 (GRCm39)	E354D	probably benign	Het
Ush2a	T	C	1: 188,516,905 (GRCm39)	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,340,917 (GRCm39)	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,753,077 (GRCm39)	L402P	probably damaging	Het
Zfp27	T	A	7: 29,594,221 (GRCm39)	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,105,903 (GRCm39)		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
R0961:Ncbp1	UTSW	4	46,165,193 (GRCm39)	missense	possibly damaging	0.69
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
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'- ATAAAGTCCCTCCCTAGTGCAC -3'
(R):5'- CCTACAGGAGACAGATGCTGAG -3'

Sequencing Primer
(F):5'- CCAAAACCAGCTCGAGGGAG -3'
(R):5'- TGCTGAGATGGAGAGCAAAC -3'

Posted On

2019-11-12