Mutagenetix > Incidental Mutation

Incidental Mutation 'R4900:Ncl'

376059

Institutional Source

Beutler Lab

Gene Symbol

Ncl

Ensembl Gene

ENSMUSG00000026234

Gene Name

nucleolin

Synonyms

C23, B530004O11Rik

MMRRC Submission

042504-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86272441-86287122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86283901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 307 (T307A)

Ref Sequence

ENSEMBL: ENSMUSP00000027438 (fasta)

Gene Model

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

AlphaFold

P09405

Predicted Effect

probably benign
Transcript: ENSMUST00000027438
AA Change: T307A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000027438
Gene: ENSMUSG00000026234
AA Change: T307A

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: ENSMUST00000082903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188682

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

Meta Mutation Damage Score

0.0623

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
Abtb2	A	G	2: 103,397,349 (GRCm39)	E93G	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Adgrb2	T	A	4: 129,907,668 (GRCm39)	Y1001N	probably damaging	Het
Aox1	T	G	1: 58,344,544 (GRCm39)	S546A	probably benign	Het
Asic2	T	C	11: 81,464,280 (GRCm39)		probably benign	Het
Bcl11b	T	A	12: 107,955,957 (GRCm39)	N64I	probably damaging	Het
Cacna1g	A	G	11: 94,350,177 (GRCm39)	F556S	possibly damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdh11	C	T	8: 103,374,090 (GRCm39)		probably null	Het
Ces2g	C	T	8: 105,693,989 (GRCm39)	Q442*	probably null	Het
Cps1	A	T	1: 67,200,063 (GRCm39)	T404S	probably damaging	Het
Csf2rb2	A	T	15: 78,170,174 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,346,318 (GRCm39)	Y1526C	probably benign	Het
Cyp2a12	C	T	7: 26,730,640 (GRCm39)	Q202*	probably null	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Cyp2j13	G	A	4: 95,947,280 (GRCm39)	T257I	probably damaging	Het
Dnah8	T	A	17: 30,965,949 (GRCm39)	L2427Q	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Flvcr2	T	A	12: 85,829,756 (GRCm39)	V255D	probably damaging	Het
Galc	G	T	12: 98,197,731 (GRCm39)	T326K	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,291,561 (GRCm39)	Y808N	probably benign	Het
Glis1	C	T	4: 107,476,761 (GRCm39)	A306V	probably damaging	Het
Gm10638	A	G	8: 87,473,028 (GRCm39)		probably benign	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gm27048	C	T	8: 81,661,228 (GRCm39)		noncoding transcript	Het
Gm4204	T	C	1: 135,160,556 (GRCm39)		noncoding transcript	Het
Gm904	A	T	13: 50,799,325 (GRCm39)	I95F	possibly damaging	Het
Gvin3	T	G	7: 106,197,793 (GRCm39)		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ints11	G	A	4: 155,972,887 (GRCm39)	D526N	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Kcnj8	A	G	6: 142,512,221 (GRCm39)	S129P	probably damaging	Het
Kcnq3	A	G	15: 65,867,259 (GRCm39)	S795P	probably damaging	Het
Lhx8	G	T	3: 154,035,925 (GRCm39)	A22E	probably benign	Het
Lrp8	A	G	4: 107,664,006 (GRCm39)		probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Lvrn	T	C	18: 47,014,479 (GRCm39)	S526P	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mroh8	T	C	2: 157,070,647 (GRCm39)	E568G	probably benign	Het
Ms4a4b	C	A	19: 11,440,503 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,303,280 (GRCm39)	F99S	probably benign	Het
Myo5c	T	A	9: 75,180,825 (GRCm39)	I738N	probably damaging	Het
Naip6	A	C	13: 100,433,477 (GRCm39)	V1120G	probably damaging	Het
Npr1	A	T	3: 90,363,272 (GRCm39)	D869E	possibly damaging	Het
Nup93	A	G	8: 95,013,231 (GRCm39)	T36A	probably benign	Het
Olfml2b	C	A	1: 170,489,947 (GRCm39)	T189N	probably damaging	Het
Or4c12b	A	G	2: 89,647,312 (GRCm39)	N208S	possibly damaging	Het
Or8b9	T	C	9: 37,766,608 (GRCm39)	F165L	probably benign	Het
P4htm	A	C	9: 108,456,427 (GRCm39)	W458G	probably damaging	Het
Pdzrn4	G	T	15: 92,668,638 (GRCm39)	R930L	probably damaging	Het
Pgam5	G	A	5: 110,408,301 (GRCm39)	A240V	probably damaging	Het
Prex2	T	C	1: 11,220,129 (GRCm39)		probably benign	Het
Ptpru	T	G	4: 131,515,693 (GRCm39)	E897A	probably damaging	Het
Rapgef2	A	T	3: 78,981,670 (GRCm39)	N1256K	probably benign	Het
Rhbdl3	A	G	11: 80,210,439 (GRCm39)	E64G	probably benign	Het
Sel1l3	A	T	5: 53,289,184 (GRCm39)	L879Q	probably damaging	Het
Siah1a	G	T	8: 87,451,703 (GRCm39)	D260E	probably benign	Het
Skint6	T	C	4: 112,924,667 (GRCm39)	I522V	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Smok3c	T	C	5: 138,062,813 (GRCm39)	I100T	probably damaging	Het
Snx24	C	A	18: 53,518,295 (GRCm39)	Y141*	probably null	Het
Tigit	A	G	16: 43,469,594 (GRCm39)	S166P	probably damaging	Het
Tmem183a	C	T	1: 134,275,904 (GRCm39)	R324Q	probably benign	Het
Tmie	T	C	9: 110,696,001 (GRCm39)	D130G	possibly damaging	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Vmn2r111	T	C	17: 22,767,637 (GRCm39)	N620S	possibly damaging	Het
Vmn2r12	T	A	5: 109,240,852 (GRCm39)	N87I	probably damaging	Het
Vmn2r92	A	G	17: 18,404,605 (GRCm39)	D583G	probably benign	Het
Zdhhc17	T	C	10: 110,821,819 (GRCm39)	D60G	possibly 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
R2022: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
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'- CCCCATGTTTAAAGGCAGGGAAG -3'
(R):5'- GTAAGCCTGCAAAACTGGGG -3'

Sequencing Primer
(F):5'- CCATGTTTAAAGGCAGGGAAGAATAC -3'
(R):5'- CCTGCAAAACTGGGGAAACAGATC -3'

Posted On

2016-03-17