Mutagenetix > Incidental Mutation

Incidental Mutation 'R6028:Ncl'

480144

Institutional Source

Beutler Lab

Gene Symbol

Ncl

Ensembl Gene

ENSMUSG00000026234

Gene Name

nucleolin

Synonyms

C23, B530004O11Rik

MMRRC Submission

044200-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86272441-86287122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86283855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 322 (V322A)

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: V322A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027438
Gene: ENSMUSG00000026234
AA Change: V322A

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: ENSMUST00000188682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186050

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,533,718 (GRCm39)		probably null	Het
Acat1	A	T	9: 53,503,366 (GRCm39)	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,260,561 (GRCm39)	A924E	probably damaging	Het
Adck1	A	T	12: 88,368,902 (GRCm39)	M127L	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alad	G	T	4: 62,428,359 (GRCm39)	T305K	probably benign	Het
Ankrd33	T	C	15: 101,016,953 (GRCm39)	F65S	probably damaging	Het
Ap3d1	T	C	10: 80,558,761 (GRCm39)	N281S	possibly damaging	Het
Arhgap30	A	G	1: 171,235,888 (GRCm39)	D754G	probably benign	Het
Asah2	T	C	19: 31,993,914 (GRCm39)	D438G	probably damaging	Het
Cachd1	C	A	4: 100,840,753 (GRCm39)	N905K	probably damaging	Het
Cdh23	G	T	10: 60,370,314 (GRCm39)	D160E	probably damaging	Het
Cntln	T	A	4: 84,889,410 (GRCm39)	S298T	probably benign	Het
Cplx3	A	G	9: 57,515,546 (GRCm39)	I443T	probably damaging	Het
Dnah5	T	A	15: 28,387,979 (GRCm39)	M3146K	probably damaging	Het
Doc2b	C	A	11: 75,663,412 (GRCm39)	A347S	probably benign	Het
Efcab3	T	C	11: 104,660,481 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,131 (GRCm39)	D137E	possibly damaging	Het
Eps8l2	T	C	7: 140,937,746 (GRCm39)	F422S	possibly damaging	Het
Esm1	A	G	13: 113,353,201 (GRCm39)	N161S	possibly damaging	Het
Fbxw10	C	T	11: 62,764,345 (GRCm39)	Q671*	probably null	Het
Fnbp4	C	A	2: 90,581,478 (GRCm39)	T177K	probably benign	Het
Gpr137c	C	A	14: 45,514,938 (GRCm39)	Q266K	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,188,837 (GRCm39)	K25N	probably null	Het
Klhl29	G	T	12: 5,140,995 (GRCm39)	Y616*	probably null	Het
Lmnb1	T	G	18: 56,876,348 (GRCm39)	Y485*	probably null	Het
Lrrc63	A	G	14: 75,323,614 (GRCm39)	S537P	possibly damaging	Het
Ltbp2	T	A	12: 84,831,626 (GRCm39)	N1686I	probably damaging	Het
Map9	T	A	3: 82,287,555 (GRCm39)		probably null	Het
Marco	T	A	1: 120,418,671 (GRCm39)	Q194L	probably damaging	Het
Mc3r	A	T	2: 172,091,129 (GRCm39)	D117V	probably damaging	Het
Meltf	T	A	16: 31,706,294 (GRCm39)	D259E	possibly damaging	Het
Mical1	A	T	10: 41,362,873 (GRCm39)	M973L	probably benign	Het
Mmp21	T	C	7: 133,280,443 (GRCm39)	T176A	probably benign	Het
Mterf1b	T	A	5: 4,247,666 (GRCm39)		probably null	Het
Muc16	G	A	9: 18,568,472 (GRCm39)	S1349F	unknown	Het
Nacc2	A	G	2: 25,951,590 (GRCm39)	V415A	probably damaging	Het
Neb	G	A	2: 52,083,243 (GRCm39)	T1639I	probably damaging	Het
Nfia	A	G	4: 97,999,488 (GRCm39)	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,257,762 (GRCm39)	T460I	probably benign	Het
Or8g24	T	A	9: 38,989,379 (GRCm39)	I221F	probably damaging	Het
Or8k32	T	A	2: 86,369,113 (GRCm39)	I49F	possibly damaging	Het
Patl2	T	A	2: 121,956,618 (GRCm39)	Q158L	possibly damaging	Het
Pja2	T	C	17: 64,616,085 (GRCm39)	D270G	probably benign	Het
Pkd1l1	T	C	11: 8,786,267 (GRCm39)	H1929R	probably benign	Het
Plekhh3	A	T	11: 101,057,396 (GRCm39)	M287K	probably damaging	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Popdc3	A	G	10: 45,194,015 (GRCm39)	D272G	probably benign	Het
Prkar2b	A	T	12: 32,043,757 (GRCm39)	D121E	possibly damaging	Het
Psmd3	T	A	11: 98,576,491 (GRCm39)	L131Q	probably damaging	Het
Ptcd3	A	T	6: 71,875,392 (GRCm39)	C197S	probably damaging	Het
Ptprf	A	T	4: 118,070,826 (GRCm39)	V1391D	probably benign	Het
Purb	A	G	11: 6,425,150 (GRCm39)	F246S	probably damaging	Het
Rgs8	C	A	1: 153,566,734 (GRCm39)	T95N	probably damaging	Het
Slc2a13	T	C	15: 91,160,319 (GRCm39)	N545S	probably damaging	Het
Smpd2	A	G	10: 41,365,344 (GRCm39)	W51R	probably damaging	Het
Srgap1	T	C	10: 121,664,635 (GRCm39)	Q490R	probably null	Het
Strbp	G	A	2: 37,515,267 (GRCm39)	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,707,685 (GRCm39)	M145K	probably damaging	Het
Taf5l	A	C	8: 124,729,714 (GRCm39)		probably null	Het
Tas2r131	T	G	6: 132,934,639 (GRCm39)	I57L	probably benign	Het
Tcf25	A	G	8: 124,108,176 (GRCm39)	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,255,268 (GRCm39)	T57A	possibly damaging	Het
Tspan17	A	G	13: 54,941,111 (GRCm39)	N130S	probably damaging	Het
Utrn	T	C	10: 12,530,460 (GRCm39)	S2118G	probably benign	Het
Vmn2r3	T	A	3: 64,182,698 (GRCm39)	T334S	probably benign	Het
Wnk2	G	T	13: 49,229,821 (GRCm39)	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,284,275 (GRCm39)	T947A	probably benign	Het
Zfhx3	C	T	8: 109,520,135 (GRCm39)	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549 (GRCm39)	S258P	probably damaging	Het
Zfp964	A	G	8: 70,116,563 (GRCm39)	T388A	unknown	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
R4900:Ncl	UTSW	1	86,283,901 (GRCm39)	missense	probably benign	0.01
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'- TATAGCCCCATGTTTAAAGGCAG -3'
(R):5'- GCCTGCAAAACTGGGGAAAC -3'

Sequencing Primer
(F):5'- CCCCATGTTTAAAGGCAGGGAAG -3'
(R):5'- TCAGAGTAGCACTAGCACAAG -3'

Posted On

2017-06-26