Mutagenetix > Incidental Mutation

Incidental Mutation 'R0348:Ncl'

35957

Institutional Source

Beutler Lab

Gene Symbol

Ncl

Ensembl Gene

ENSMUSG00000026234

Gene Name

nucleolin

Synonyms

C23, B530004O11Rik

MMRRC Submission

038555-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R0348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86272441-86287122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86284362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 245 (D245N)

Ref Sequence

ENSEMBL: ENSMUSP00000027438 (fasta)

Gene Model

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

AlphaFold

P09405

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027438
AA Change: D245N

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027438
Gene: ENSMUSG00000026234
AA Change: D245N

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: ENSMUST00000190804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186050

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	C	11: 3,844,987 (GRCm39)	D34G	probably benign	Het
Adam6a	T	C	12: 113,508,337 (GRCm39)	S237P	probably damaging	Het
Adamts13	A	C	2: 26,871,092 (GRCm39)	D235A	probably benign	Het
Adgb	T	A	10: 10,233,623 (GRCm39)	M1259L	probably benign	Het
Apbb1	T	C	7: 105,214,510 (GRCm39)	Q529R	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Camta1	T	C	4: 151,670,888 (GRCm39)	T96A	possibly damaging	Het
Ccdc148	A	T	2: 58,894,084 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,703,240 (GRCm39)	Y568H	probably damaging	Het
Clca4b	A	T	3: 144,627,741 (GRCm39)	I410N	probably damaging	Het
Cnot10	G	A	9: 114,427,838 (GRCm39)	T592I	probably benign	Het
Col6a3	C	T	1: 90,755,771 (GRCm39)	A173T	probably damaging	Het
Ctcf	T	A	8: 106,402,789 (GRCm39)	C560*	probably null	Het
Daglb	G	A	5: 143,472,951 (GRCm39)	V369I	probably benign	Het
Defb19	G	A	2: 152,422,146 (GRCm39)	L8F	unknown	Het
Emcn	G	T	3: 137,078,608 (GRCm39)	E65*	probably null	Het
Etl4	G	T	2: 20,782,940 (GRCm39)	R753L	probably damaging	Het
Fam151b	T	C	13: 92,586,689 (GRCm39)	Y248C	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gjd4	A	G	18: 9,280,964 (GRCm39)	V38A	possibly damaging	Het
Hivep1	T	C	13: 42,311,855 (GRCm39)	V1365A	possibly damaging	Het
Hivep2	T	C	10: 14,005,702 (GRCm39)	S767P	possibly damaging	Het
Hoxa6	T	C	6: 52,183,548 (GRCm39)	T166A	possibly damaging	Het
Ift80	G	T	3: 68,843,232 (GRCm39)	L367I	probably benign	Het
Igf2bp1	T	C	11: 95,859,719 (GRCm39)	N369S	possibly damaging	Het
Igsf11	C	A	16: 38,829,179 (GRCm39)	D24E	probably benign	Het
Ints5	C	T	19: 8,873,114 (GRCm39)	L358F	probably damaging	Het
Kbtbd3	A	G	9: 4,330,519 (GRCm39)	T298A	possibly damaging	Het
Kif28	C	A	1: 179,558,818 (GRCm39)	V297F	probably damaging	Het
Krt12	T	C	11: 99,308,771 (GRCm39)	Y422C	probably damaging	Het
Lig1	T	A	7: 13,043,122 (GRCm39)	W856R	probably damaging	Het
Liph	C	T	16: 21,786,730 (GRCm39)		probably null	Het
Lrig3	T	A	10: 125,849,317 (GRCm39)	C1012*	probably null	Het
Lrit1	A	G	14: 36,782,182 (GRCm39)	E285G	probably damaging	Het
Lrrc31	A	G	3: 30,743,377 (GRCm39)	V196A	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Mllt10	T	C	2: 18,167,424 (GRCm39)	Y372H	probably damaging	Het
Mrpl50	A	T	4: 49,514,515 (GRCm39)	V52E	probably damaging	Het
Mthfd1l	T	C	10: 4,006,766 (GRCm39)	V676A	probably damaging	Het
Neil1	A	T	9: 57,054,065 (GRCm39)		probably null	Het
Nfatc3	A	G	8: 106,818,827 (GRCm39)	E515G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,108 (GRCm39)	E70G	possibly damaging	Het
Nme3	A	T	17: 25,115,491 (GRCm39)	I2F	possibly damaging	Het
Nup210	G	A	6: 91,051,292 (GRCm39)	H364Y	probably benign	Het
Nxpe3	T	A	16: 55,686,898 (GRCm39)	T37S	probably benign	Het
Olfm1	T	A	2: 28,102,554 (GRCm39)	M76K	probably benign	Het
Pgbd5	A	T	8: 125,160,771 (GRCm39)	V32E	probably damaging	Het
Plcb4	T	C	2: 135,810,339 (GRCm39)	M646T	probably damaging	Het
Plekha7	G	A	7: 115,757,255 (GRCm39)	P565L	probably damaging	Het
Poc5	A	G	13: 96,535,374 (GRCm39)	D213G	probably null	Het
Poli	A	G	18: 70,656,452 (GRCm39)	I125T	probably benign	Het
Ppm1f	T	C	16: 16,721,254 (GRCm39)	M1T	probably null	Het
Psmd7	T	C	8: 108,307,523 (GRCm39)	K320R	unknown	Het
Rabggtb	A	G	3: 153,615,954 (GRCm39)	V128A	probably damaging	Het
Rasa2	A	T	9: 96,454,012 (GRCm39)	L308H	probably damaging	Het
Serpina1d	C	T	12: 103,730,034 (GRCm39)	V383M	probably benign	Het
Sipa1l1	T	C	12: 82,431,530 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,740 (GRCm39)	T1006A	probably benign	Het
Sugp1	T	A	8: 70,522,658 (GRCm39)	Y453N	probably damaging	Het
Taf3	A	T	2: 10,047,455 (GRCm39)	D64E	probably benign	Het
Tcf19	A	T	17: 35,826,801 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,868 (GRCm39)	H127L	probably damaging	Het
Tubb4a	C	T	17: 57,387,770 (GRCm39)	V419M	probably damaging	Het
Vmn2r22	G	T	6: 123,614,684 (GRCm39)	T302K	probably damaging	Het
Vmn2r68	T	G	7: 84,870,884 (GRCm39)	T800P	possibly damaging	Het
Zfhx2	A	C	14: 55,300,965 (GRCm39)	V2262G	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
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
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'- CAGACACTTTAGCATAGCCAGTAAGCC -3'
(R):5'- TCCTGCCTCAGAGGATGAGGAAGATG -3'

Sequencing Primer
(F):5'- GCATAGCCAGTAAGCCTTACTTAG -3'
(R):5'- tgaggaagatgatgaggatgaag -3'

Posted On

2013-05-09