Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Ncl'

575050

Institutional Source

Beutler Lab

Gene Symbol

Ncl

Ensembl Gene

ENSMUSG00000026234

Gene Name

nucleolin

Synonyms

C23, B530004O11Rik

MMRRC Submission

045492-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86272441-86287122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86278564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 673 (F673I)

Ref Sequence

ENSEMBL: ENSMUSP00000027438 (fasta)

Gene Model

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

AlphaFold

P09405

Predicted Effect

probably damaging
Transcript: ENSMUST00000027438
AA Change: F673I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027438
Gene: ENSMUSG00000026234
AA Change: F673I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,241 (GRCm39)	T276I	possibly damaging	Het
Abca17	A	G	17: 24,547,543 (GRCm39)	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,134,280 (GRCm39)		probably null	Het
Abcc12	C	A	8: 87,287,479 (GRCm39)	R122L	possibly damaging	Het
Abcc8	A	G	7: 45,815,341 (GRCm39)		probably null	Het
Adam28	C	T	14: 68,864,396 (GRCm39)	R469K	probably damaging	Het
Adamts18	T	C	8: 114,504,362 (GRCm39)	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,791,754 (GRCm39)	S619P	probably damaging	Het
Alpk3	A	T	7: 80,742,600 (GRCm39)	T806S	probably benign	Het
Armh3	A	C	19: 45,953,874 (GRCm39)	V170G	probably benign	Het
Atoh1	T	A	6: 64,706,914 (GRCm39)	I203N	probably damaging	Het
Cables1	A	G	18: 11,973,572 (GRCm39)	E237G	probably benign	Het
Cacna1d	A	G	14: 30,074,947 (GRCm39)	M1T	probably null	Het
Ccdc91	C	T	6: 147,493,696 (GRCm39)	Q363*	probably null	Het
Cdhr17	A	T	5: 17,029,763 (GRCm39)	T500S	possibly damaging	Het
Ceacam5	T	A	7: 17,484,678 (GRCm39)	D473E	probably damaging	Het
Cfap54	T	A	10: 92,704,617 (GRCm39)	D2821V	unknown	Het
Clca3a2	A	G	3: 144,507,860 (GRCm39)	S737P	probably damaging	Het
Clec4n	T	A	6: 123,209,145 (GRCm39)	M70K	probably benign	Het
Dnai3	A	G	3: 145,802,900 (GRCm39)	V97A	probably damaging	Het
Dstyk	G	A	1: 132,345,404 (GRCm39)	G21S	probably benign	Het
Efcab3	T	G	11: 104,890,549 (GRCm39)	N4210K	probably benign	Het
Enpp5	A	G	17: 44,392,366 (GRCm39)	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,279,538 (GRCm39)		probably null	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Guk1	A	G	11: 59,076,811 (GRCm39)	F91L		Het
Ints1	C	T	5: 139,750,015 (GRCm39)	E961K	possibly damaging	Het
Irx2	T	A	13: 72,777,182 (GRCm39)	M1K	probably null	Het
Jrk	C	T	15: 74,579,048 (GRCm39)	R79H	possibly damaging	Het
Kcnu1	G	T	8: 26,382,116 (GRCm39)	V489L	probably damaging	Het
Kctd7	C	T	5: 130,181,265 (GRCm39)	T209M	probably benign	Het
Kdm5a	T	A	6: 120,403,776 (GRCm39)	V1127E	probably damaging	Het
Klk6	A	G	7: 43,476,367 (GRCm39)	H69R	probably damaging	Het
Lck	T	C	4: 129,445,763 (GRCm39)	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,496,734 (GRCm39)	L276P	probably damaging	Het
Med25	A	G	7: 44,527,667 (GRCm39)	W730R	probably damaging	Het
Muc4	T	C	16: 32,570,140 (GRCm39)	V400A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myt1	C	A	2: 181,456,899 (GRCm39)	H906Q	probably damaging	Het
Nfe2l1	G	T	11: 96,713,009 (GRCm39)	T216N	probably benign	Het
Nos2	G	A	11: 78,835,681 (GRCm39)		probably null	Het
Nphp4	T	A	4: 152,639,174 (GRCm39)	I935N	probably benign	Het
Ntn1	G	A	11: 68,276,915 (GRCm39)	A11V	probably benign	Het
Or2t26	A	T	11: 49,039,821 (GRCm39)	M246L	probably benign	Het
Or4c10b	T	C	2: 89,711,605 (GRCm39)	V145A	probably damaging	Het
Pate11	T	C	9: 36,386,980 (GRCm39)	V16A	possibly damaging	Het
Pcdha12	A	G	18: 37,154,661 (GRCm39)	Y460C	probably damaging	Het
Pcdha4	G	T	18: 37,086,111 (GRCm39)	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,103,398 (GRCm39)	S234P	probably damaging	Het
Pmfbp1	A	T	8: 110,240,503 (GRCm39)	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,502,125 (GRCm39)	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,511,273 (GRCm39)		probably null	Het
Rhbdl2	G	A	4: 123,723,435 (GRCm39)	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Sema3a	T	G	5: 13,566,230 (GRCm39)	Y171*	probably null	Het
Set	A	G	2: 29,956,897 (GRCm39)	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,608,057 (GRCm39)	D229E	probably benign	Het
Slc12a2	A	T	18: 58,074,085 (GRCm39)	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,954,688 (GRCm39)	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slc6a20b	A	G	9: 123,434,013 (GRCm39)	I275T	probably benign	Het
Speer1e	T	A	5: 11,233,116 (GRCm39)		probably null	Het
Stradb	A	C	1: 59,027,677 (GRCm39)	D69A	possibly damaging	Het
Supt16	A	T	14: 52,415,508 (GRCm39)	V409E	probably damaging	Het
Tcea2	A	G	2: 181,328,457 (GRCm39)	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,033,072 (GRCm39)	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,668,116 (GRCm39)	H117L	probably benign	Het
Vps13c	T	A	9: 67,879,283 (GRCm39)	M3408K	probably damaging	Het
Wdfy4	A	C	14: 32,828,088 (GRCm39)	M1078R		Het
Ypel5	G	A	17: 73,153,439 (GRCm39)		probably null	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
R6028:Ncl	UTSW	1	86,283,855 (GRCm39)	missense	probably benign	0.00
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'- GGATGGAAGGAACTATTCAAACTTC -3'
(R):5'- AGGAAGATGCCAAAGCTGCC -3'

Sequencing Primer
(F):5'- GTGGCTTGAAGTCTCCCC -3'
(R):5'- TGCCAAAGCTGCCAAGGAG -3'

Posted On

2019-10-07