Mutagenetix > Incidental Mutation

Incidental Mutation 'R2022:Ncl'

224067

Institutional Source

Beutler Lab

Gene Symbol

Ncl

Ensembl Gene

ENSMUSG00000026234

Gene Name

nucleolin

Synonyms

C23, B530004O11Rik

MMRRC Submission

040031-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86272441-86287122 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 86284677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027438] [ENSMUST00000185785]

AlphaFold

P09405

Predicted Effect

probably null
Transcript: ENSMUST00000027438

SMART Domains

Protein: ENSMUSP00000027438
Gene: ENSMUSG00000026234

Domain	Start	End	E-Value	Type
low complexity region	23	47	N/A	INTRINSIC
low complexity region	51	66	N/A	INTRINSIC
low complexity region	69	92	N/A	INTRINSIC
low complexity region	121	142	N/A	INTRINSIC
low complexity region	143	168	N/A	INTRINSIC
low complexity region	178	188	N/A	INTRINSIC
low complexity region	189	215	N/A	INTRINSIC
low complexity region	241	273	N/A	INTRINSIC
low complexity region	288	299	N/A	INTRINSIC
RRM	310	381	2.1e-8	SMART
RRM	396	464	1.97e-13	SMART
RRM	488	557	4.56e-18	SMART
RRM	570	640	1.04e-21	SMART
low complexity region	648	695	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185676

Predicted Effect

probably benign
Transcript: ENSMUST00000185785

SMART Domains

Protein: ENSMUSP00000140696
Gene: ENSMUSG00000026234

Domain	Start	End	E-Value	Type
low complexity region	7	31	N/A	INTRINSIC
low complexity region	35	50	N/A	INTRINSIC
low complexity region	53	76	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189504

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Akr1cl	T	A	1: 65,053,857 (GRCm39)	Y271F	probably benign	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Atp12a	T	A	14: 56,602,739 (GRCm39)	M1K	probably null	Het
Atp4b	A	C	8: 13,437,477 (GRCm39)	N225K	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cactin	C	T	10: 81,158,727 (GRCm39)	T231I	possibly damaging	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc180	C	A	4: 45,944,418 (GRCm39)	H1423N	probably benign	Het
Cfap251	G	A	5: 123,411,853 (GRCm39)	G495D	probably benign	Het
Chd9	T	C	8: 91,761,682 (GRCm39)	Y2256H	probably benign	Het
Chst8	A	G	7: 34,374,589 (GRCm39)	Y417H	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Clec5a	A	T	6: 40,562,128 (GRCm39)	V12E	probably damaging	Het
Crebbp	C	T	16: 3,903,683 (GRCm39)	R1852H	probably damaging	Het
Cyp2c40	T	A	19: 39,801,224 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,601,836 (GRCm39)	L265P	probably damaging	Het
Dnah3	A	G	7: 119,550,465 (GRCm39)	Y3274H	probably damaging	Het
Dnah6	T	A	6: 73,004,405 (GRCm39)	T3853S	probably benign	Het
Dnttip2	T	C	3: 122,069,870 (GRCm39)	S362P	probably damaging	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dym	T	C	18: 75,213,321 (GRCm39)	V181A	probably benign	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Epb41l4a	C	T	18: 34,054,893 (GRCm39)	S65N	probably benign	Het
Erap1	T	A	13: 74,814,627 (GRCm39)	V451E	probably benign	Het
F830045P16Rik	T	A	2: 129,314,585 (GRCm39)	I231F	probably damaging	Het
Fahd1	T	C	17: 25,068,814 (GRCm39)	I88V	probably benign	Het
Fam120b	C	T	17: 15,644,638 (GRCm39)	T744I	possibly damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gdap1l1	A	T	2: 163,289,517 (GRCm39)	T161S	probably benign	Het
Gm6309	C	T	5: 146,105,121 (GRCm39)	G264D	probably benign	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ino80b	A	G	6: 83,101,353 (GRCm39)	M119T	probably damaging	Het
Kif3a	G	A	11: 53,461,408 (GRCm39)	V17M	probably damaging	Het
Krt40	T	A	11: 99,430,818 (GRCm39)	E285D	probably damaging	Het
Lair1	C	G	7: 4,066,063 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,999,503 (GRCm39)	T290A	possibly damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,242,573 (GRCm39)	V175A	probably damaging	Het
Mok	A	T	12: 110,778,257 (GRCm39)	D216E	probably benign	Het
Muc15	A	T	2: 110,561,821 (GRCm39)	T86S	probably benign	Het
Myo16	A	G	8: 10,322,633 (GRCm39)	K21R	probably benign	Het
Nfrkb	C	T	9: 31,322,546 (GRCm39)	T872I	probably benign	Het
Nhlrc2	A	T	19: 56,585,710 (GRCm39)	E648D	probably benign	Het
Nlrp9c	A	T	7: 26,084,221 (GRCm39)	Y453N	probably damaging	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nrg3	T	A	14: 38,098,309 (GRCm39)	D515V	probably damaging	Het
Nsd1	T	C	13: 55,361,092 (GRCm39)	V20A	probably damaging	Het
Opn4	T	A	14: 34,319,028 (GRCm39)	T186S	probably benign	Het
Or9k2	T	C	10: 129,999,049 (GRCm39)	M49V	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Phf11a	T	A	14: 59,532,363 (GRCm39)	E24V	possibly damaging	Het
Pigg	A	T	5: 108,460,788 (GRCm39)		probably benign	Het
Plscr2	A	G	9: 92,177,647 (GRCm39)	D136G	probably damaging	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Prdm6	A	G	18: 53,598,031 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,417,534 (GRCm39)	W1188R	possibly damaging	Het
Prmt2	T	A	10: 76,061,292 (GRCm39)	R65*	probably null	Het
Prom1	G	T	5: 44,187,068 (GRCm39)	D396E	probably benign	Het
Ptcd3	C	T	6: 71,862,537 (GRCm39)	C466Y	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rab36	T	C	10: 74,888,306 (GRCm39)	I250T	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Slc22a16	T	C	10: 40,467,873 (GRCm39)	Y469H	probably damaging	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Sptan1	C	T	2: 29,897,573 (GRCm39)	A1212V	probably damaging	Het
Ssr1	C	T	13: 38,173,525 (GRCm39)	A79T	probably damaging	Het
Tiam1	T	A	16: 89,674,075 (GRCm39)	T479S	probably benign	Het
Tm9sf3	A	G	19: 41,227,231 (GRCm39)	F280S	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Tpbpa	T	A	13: 61,088,036 (GRCm39)	N50I	probably benign	Het
Tshz1	T	A	18: 84,031,987 (GRCm39)	Y807F	probably damaging	Het
Tspo2	C	T	17: 48,755,750 (GRCm39)	A131T	possibly damaging	Het
Usp16	T	C	16: 87,270,014 (GRCm39)	L322P	probably damaging	Het
Vmn1r185	A	G	7: 26,310,935 (GRCm39)	V190A	possibly damaging	Het
Vmn1r34	T	C	6: 66,614,385 (GRCm39)	K118E	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,673,454 (GRCm39)	N171D	probably benign	Het
Vps51	T	C	19: 6,121,612 (GRCm39)	E162G	probably benign	Het
Yy1	CGGG	CGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zdhhc4	C	T	5: 143,307,538 (GRCm39)	R161H	probably damaging	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp541	T	A	7: 15,816,110 (GRCm39)	S866T	probably damaging	Het

Other mutations in Ncl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Ncl	APN	1	86,284,091 (GRCm39)	critical splice donor site	probably null
IGL03328:Ncl	APN	1	86,280,319 (GRCm39)	missense	probably damaging	1.00
PIT4498001:Ncl	UTSW	1	86,279,162 (GRCm39)	missense	possibly damaging	0.61
R0348:Ncl	UTSW	1	86,284,362 (GRCm39)	missense	possibly damaging	0.86
R1073:Ncl	UTSW	1	86,278,538 (GRCm39)	small insertion	probably benign
R2021:Ncl	UTSW	1	86,284,677 (GRCm39)	critical splice donor site	probably null
R4672:Ncl	UTSW	1	86,284,324 (GRCm39)	missense	probably benign	0.04
R4900:Ncl	UTSW	1	86,283,901 (GRCm39)	missense	probably benign	0.01
R6028:Ncl	UTSW	1	86,283,855 (GRCm39)	missense	probably benign	0.00
R7411:Ncl	UTSW	1	86,278,564 (GRCm39)	missense	probably damaging	1.00
R8113:Ncl	UTSW	1	86,284,364 (GRCm39)	missense	possibly damaging	0.84
R9083:Ncl	UTSW	1	86,279,183 (GRCm39)	missense	possibly damaging	0.95
R9210:Ncl	UTSW	1	86,280,239 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TTTGCTACCTACCAATCCAGAC -3'
(R):5'- AGCAAAAGCGTTGGTACCAAC -3'

Sequencing Primer
(F):5'- TACCAATCCAGACAAGATAAATGC -3'
(R):5'- CTCCTGGTAAAAAGGGAGCTGC -3'

Posted On

2014-08-25