Mutagenetix > Incidental Mutation

Incidental Mutation 'R6223:Nol11'

504156

Institutional Source

Beutler Lab

Gene Symbol

Nol11

Ensembl Gene

ENSMUSG00000018433

Gene Name

nucleolar protein 11

Synonyms

1500002M01Rik

MMRRC Submission

044354-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R6223 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

107166663-107189381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107171616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 598 (T598K)

Ref Sequence

ENSEMBL: ENSMUSP00000102368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018577] [ENSMUST00000106757]

AlphaFold

Q8BJW5

Predicted Effect

probably benign
Transcript: ENSMUST00000018577
AA Change: T618K

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018577
Gene: ENSMUSG00000018433
AA Change: T618K

Domain	Start	End	E-Value	Type
SCOP:d1jmxb_	32	176	3e-3	SMART
Pfam:NUC205	200	243	3.7e-26	PFAM
low complexity region	619	629	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106757
AA Change: T598K

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102368
Gene: ENSMUSG00000018433
AA Change: T598K

Domain	Start	End	E-Value	Type
SCOP:d1jmxb_	32	176	3e-3	SMART
Pfam:NUC205	200	243	7.3e-29	PFAM
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129501

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,427,953	R8S	probably benign	Het
Abca8b	A	G	11: 109,977,846	V164A	probably benign	Het
Acadm	C	A	3: 153,938,549		probably null	Het
Ap3b2	G	A	7: 81,473,462	R435*	probably null	Het
Art2b	A	G	7: 101,579,951	F247S	possibly damaging	Het
C1rb	T	A	6: 124,574,580	D216E	probably benign	Het
Casz1	C	A	4: 148,933,383	D90E	probably damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Cdc25a	C	A	9: 109,889,774	P409T	possibly damaging	Het
Cidea	A	C	18: 67,358,739	K23T	possibly damaging	Het
Clspn	T	A	4: 126,586,168	D1101E	probably damaging	Het
Col10a1	A	T	10: 34,395,187	D385V	probably damaging	Het
Crat	C	T	2: 30,407,030	V304I	probably benign	Het
Cyp2d26	A	T	15: 82,791,717	W265R	probably benign	Het
Dock8	A	T	19: 25,161,052	Y1247F	probably benign	Het
Eed	A	G	7: 89,956,287	Y365H	probably damaging	Het
Fabp5	T	A	3: 10,015,110	F73L	probably benign	Het
Fbn1	C	T	2: 125,412,671	C224Y	possibly damaging	Het
Ggcx	T	C	6: 72,429,605	F684L	probably damaging	Het
Glrp1	G	A	1: 88,503,442	Q69*	probably null	Het
Gm29797	T	C	2: 181,659,057	V115A	possibly damaging	Het
Gtf3c1	C	T	7: 125,676,625	R543K	probably benign	Het
Ifih1	T	C	2: 62,598,259	I891V	probably benign	Het
Ifnar2	C	T	16: 91,387,988	T89M	probably damaging	Het
Kat6a	C	A	8: 22,940,426	N1932K	unknown	Het
Mgat5	A	T	1: 127,382,979	D210V	possibly damaging	Het
Mmel1	A	G	4: 154,871,702		probably null	Het
Myh3	G	T	11: 67,098,017	V1499L	probably benign	Het
Ncan	A	C	8: 70,109,954	D551E	probably benign	Het
Olfml3	G	A	3: 103,736,460	R202W	probably damaging	Het
Olfr1362	G	A	13: 21,611,366	T201I	probably benign	Het
Olfr1509	A	G	14: 52,450,679	R89G	probably benign	Het
Pcdh9	T	C	14: 93,015,733	K1131E	probably benign	Het
Pcolce	A	G	5: 137,605,299	M424T	probably damaging	Het
Pi16	C	A	17: 29,327,439	S397*	probably null	Het
Pi4ka	A	T	16: 17,357,571	Y464*	probably null	Het
Pik3c2b	T	A	1: 133,070,357	L324M	probably damaging	Het
Prdm2	T	C	4: 143,142,207	N179S	probably benign	Het
Prss56	C	T	1: 87,185,412	P183S	probably benign	Het
Prx	T	G	7: 27,516,836	M393R	probably damaging	Het
Qpctl	T	C	7: 19,143,209	D328G	probably damaging	Het
Qser1	A	G	2: 104,787,648	S940P	probably benign	Het
Rchy1	G	A	5: 91,957,967	R41W	probably damaging	Het
Scp2d1	T	C	2: 144,823,948	I69T	possibly damaging	Het
Sirpb1a	A	G	3: 15,379,026	V388A	probably benign	Het
Ssu2	G	T	6: 112,376,448	C238*	probably null	Het
Stub1	C	T	17: 25,832,813	G14D	probably damaging	Het
Tab1	T	A	15: 80,148,263	C24S	probably damaging	Het
Tdrd1	T	C	19: 56,865,850	V1076A	probably damaging	Het
Tex10	T	C	4: 48,468,525	R134G	probably damaging	Het
Tg	T	A	15: 66,707,922	N1525K	probably benign	Het
Tll2	G	A	19: 41,135,952	T208I	possibly damaging	Het
Tmem232	T	C	17: 65,500,196	M1V	probably null	Het
Ttc7b	A	G	12: 100,387,109		probably null	Het
Ubb	A	G	11: 62,552,525	E127G	possibly damaging	Het
Ulk2	A	T	11: 61,787,504	Y796*	probably null	Het
Vdac2	G	A	14: 21,845,178	G265R	possibly damaging	Het
Vmn2r45	A	T	7: 8,483,302	V329E	probably benign	Het
Wdr60	T	C	12: 116,257,458	D11G	possibly damaging	Het
Zfp651	G	A	9: 121,763,787	R391Q	possibly damaging	Het

Other mutations in Nol11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Nol11	APN	11	107173460	missense	probably benign
IGL01656:Nol11	APN	11	107189172	missense	probably benign	0.00
IGL01687:Nol11	APN	11	107186869	missense	probably damaging	0.97
IGL02179:Nol11	APN	11	107189256	start codon destroyed	probably null	1.00
IGL02538:Nol11	APN	11	107173373	missense	probably benign	0.02
IGL03395:Nol11	APN	11	107175722	missense	probably benign	0.06
R0526:Nol11	UTSW	11	107184771	nonsense	probably null
R1734:Nol11	UTSW	11	107175623	missense	possibly damaging	0.80
R2143:Nol11	UTSW	11	107181055	missense	probably benign	0.03
R2385:Nol11	UTSW	11	107189206	missense	probably benign	0.40
R3036:Nol11	UTSW	11	107173244	missense	possibly damaging	0.87
R3522:Nol11	UTSW	11	107173628	missense	possibly damaging	0.94
R3895:Nol11	UTSW	11	107168347	missense	probably damaging	1.00
R4404:Nol11	UTSW	11	107173725	missense	probably damaging	1.00
R4664:Nol11	UTSW	11	107181000	missense	possibly damaging	0.89
R4705:Nol11	UTSW	11	107184718	intron	probably benign
R5704:Nol11	UTSW	11	107173369	missense	probably benign	0.43
R5991:Nol11	UTSW	11	107171145	missense	probably benign	0.02
R6221:Nol11	UTSW	11	107171616	missense	possibly damaging	0.50
R6222:Nol11	UTSW	11	107171616	missense	possibly damaging	0.50
R6285:Nol11	UTSW	11	107181034	missense	probably benign	0.01
R6467:Nol11	UTSW	11	107181086	missense	possibly damaging	0.95
R7080:Nol11	UTSW	11	107180052	missense	probably damaging	1.00
R7679:Nol11	UTSW	11	107173316	missense	probably benign	0.00
R7767:Nol11	UTSW	11	107179082	missense	possibly damaging	0.67
R8831:Nol11	UTSW	11	107176836	missense	probably benign
R9063:Nol11	UTSW	11	107173414	missense	probably benign	0.04
R9063:Nol11	UTSW	11	107179031	missense	possibly damaging	0.62
R9329:Nol11	UTSW	11	107180939	missense	probably damaging	1.00
R9378:Nol11	UTSW	11	107173679	missense	probably benign	0.29
R9473:Nol11	UTSW	11	107184755	missense	probably null	0.81
R9515:Nol11	UTSW	11	107173452	missense	possibly damaging	0.76
R9771:Nol11	UTSW	11	107179088	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAGAGCACATCAAGGTTGATC -3'
(R):5'- AAGCATTGTTTACGAGTGCGC -3'

Sequencing Primer
(F):5'- GGTTGATCACCCCCAAACC -3'
(R):5'- CTCTGACAGCAGCAGAGTATTGAC -3'

Posted On

2018-02-28