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

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R6223 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

107057489-107080207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107062442 bp (GRCm39)

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: 152,269,873 (GRCm39)	R8S	probably benign	Het
Abca8b	A	G	11: 109,868,672 (GRCm39)	V164A	probably benign	Het
Acadm	C	A	3: 153,644,186 (GRCm39)		probably null	Het
Ap3b2	G	A	7: 81,123,210 (GRCm39)	R435*	probably null	Het
Art2b	A	G	7: 101,229,158 (GRCm39)	F247S	possibly damaging	Het
C1rb	T	A	6: 124,551,539 (GRCm39)	D216E	probably benign	Het
Casz1	C	A	4: 149,017,840 (GRCm39)	D90E	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdc25a	C	A	9: 109,718,842 (GRCm39)	P409T	possibly damaging	Het
Cidea	A	C	18: 67,491,809 (GRCm39)	K23T	possibly damaging	Het
Clspn	T	A	4: 126,479,961 (GRCm39)	D1101E	probably damaging	Het
Col10a1	A	T	10: 34,271,183 (GRCm39)	D385V	probably damaging	Het
Crat	C	T	2: 30,297,042 (GRCm39)	V304I	probably benign	Het
Cyp2d26	A	T	15: 82,675,918 (GRCm39)	W265R	probably benign	Het
Dock8	A	T	19: 25,138,416 (GRCm39)	Y1247F	probably benign	Het
Dync2i1	T	C	12: 116,221,078 (GRCm39)	D11G	possibly damaging	Het
Eed	A	G	7: 89,605,495 (GRCm39)	Y365H	probably damaging	Het
Fabp5	T	A	3: 10,080,170 (GRCm39)	F73L	probably benign	Het
Fbn1	C	T	2: 125,254,591 (GRCm39)	C224Y	possibly damaging	Het
Ggcx	T	C	6: 72,406,588 (GRCm39)	F684L	probably damaging	Het
Glrp1	G	A	1: 88,431,164 (GRCm39)	Q69*	probably null	Het
Gm29797	T	C	2: 181,300,850 (GRCm39)	V115A	possibly damaging	Het
Gtf3c1	C	T	7: 125,275,797 (GRCm39)	R543K	probably benign	Het
Ifih1	T	C	2: 62,428,603 (GRCm39)	I891V	probably benign	Het
Ifnar2	C	T	16: 91,184,876 (GRCm39)	T89M	probably damaging	Het
Kat6a	C	A	8: 23,430,442 (GRCm39)	N1932K	unknown	Het
Mgat5	A	T	1: 127,310,716 (GRCm39)	D210V	possibly damaging	Het
Mmel1	A	G	4: 154,956,159 (GRCm39)		probably null	Het
Myh3	G	T	11: 66,988,843 (GRCm39)	V1499L	probably benign	Het
Ncan	A	C	8: 70,562,604 (GRCm39)	D551E	probably benign	Het
Olfml3	G	A	3: 103,643,776 (GRCm39)	R202W	probably damaging	Het
Or2w4	G	A	13: 21,795,536 (GRCm39)	T201I	probably benign	Het
Or4e2	A	G	14: 52,688,136 (GRCm39)	R89G	probably benign	Het
Pcdh9	T	C	14: 93,253,169 (GRCm39)	K1131E	probably benign	Het
Pcolce	A	G	5: 137,603,561 (GRCm39)	M424T	probably damaging	Het
Pi16	C	A	17: 29,546,413 (GRCm39)	S397*	probably null	Het
Pi4ka	A	T	16: 17,175,435 (GRCm39)	Y464*	probably null	Het
Pik3c2b	T	A	1: 132,998,095 (GRCm39)	L324M	probably damaging	Het
Prdm2	T	C	4: 142,868,777 (GRCm39)	N179S	probably benign	Het
Prss56	C	T	1: 87,113,134 (GRCm39)	P183S	probably benign	Het
Prx	T	G	7: 27,216,261 (GRCm39)	M393R	probably damaging	Het
Qpctl	T	C	7: 18,877,134 (GRCm39)	D328G	probably damaging	Het
Qser1	A	G	2: 104,617,993 (GRCm39)	S940P	probably benign	Het
Rchy1	G	A	5: 92,105,826 (GRCm39)	R41W	probably damaging	Het
Scp2d1	T	C	2: 144,665,868 (GRCm39)	I69T	possibly damaging	Het
Sirpb1a	A	G	3: 15,444,086 (GRCm39)	V388A	probably benign	Het
Ssu2	G	T	6: 112,353,409 (GRCm39)	C238*	probably null	Het
Stub1	C	T	17: 26,051,787 (GRCm39)	G14D	probably damaging	Het
Tab1	T	A	15: 80,032,464 (GRCm39)	C24S	probably damaging	Het
Tdrd1	T	C	19: 56,854,282 (GRCm39)	V1076A	probably damaging	Het
Tex10	T	C	4: 48,468,525 (GRCm39)	R134G	probably damaging	Het
Tg	T	A	15: 66,579,771 (GRCm39)	N1525K	probably benign	Het
Tll2	G	A	19: 41,124,391 (GRCm39)	T208I	possibly damaging	Het
Tmem232	T	C	17: 65,807,191 (GRCm39)	M1V	probably null	Het
Ttc7b	A	G	12: 100,353,368 (GRCm39)		probably null	Het
Ubb	A	G	11: 62,443,351 (GRCm39)	E127G	possibly damaging	Het
Ulk2	A	T	11: 61,678,330 (GRCm39)	Y796*	probably null	Het
Vdac2	G	A	14: 21,895,246 (GRCm39)	G265R	possibly damaging	Het
Vmn2r45	A	T	7: 8,486,301 (GRCm39)	V329E	probably benign	Het
Zbtb47	G	A	9: 121,592,853 (GRCm39)	R391Q	possibly damaging	Het

Other mutations in Nol11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Nol11	APN	11	107,064,286 (GRCm39)	missense	probably benign
IGL01656:Nol11	APN	11	107,079,998 (GRCm39)	missense	probably benign	0.00
IGL01687:Nol11	APN	11	107,077,695 (GRCm39)	missense	probably damaging	0.97
IGL02179:Nol11	APN	11	107,080,082 (GRCm39)	start codon destroyed	probably null	1.00
IGL02538:Nol11	APN	11	107,064,199 (GRCm39)	missense	probably benign	0.02
IGL03395:Nol11	APN	11	107,066,548 (GRCm39)	missense	probably benign	0.06
R0526:Nol11	UTSW	11	107,075,597 (GRCm39)	nonsense	probably null
R1734:Nol11	UTSW	11	107,066,449 (GRCm39)	missense	possibly damaging	0.80
R2143:Nol11	UTSW	11	107,071,881 (GRCm39)	missense	probably benign	0.03
R2385:Nol11	UTSW	11	107,080,032 (GRCm39)	missense	probably benign	0.40
R3036:Nol11	UTSW	11	107,064,070 (GRCm39)	missense	possibly damaging	0.87
R3522:Nol11	UTSW	11	107,064,454 (GRCm39)	missense	possibly damaging	0.94
R3895:Nol11	UTSW	11	107,059,173 (GRCm39)	missense	probably damaging	1.00
R4404:Nol11	UTSW	11	107,064,551 (GRCm39)	missense	probably damaging	1.00
R4664:Nol11	UTSW	11	107,071,826 (GRCm39)	missense	possibly damaging	0.89
R4705:Nol11	UTSW	11	107,075,544 (GRCm39)	intron	probably benign
R5704:Nol11	UTSW	11	107,064,195 (GRCm39)	missense	probably benign	0.43
R5991:Nol11	UTSW	11	107,061,971 (GRCm39)	missense	probably benign	0.02
R6221:Nol11	UTSW	11	107,062,442 (GRCm39)	missense	possibly damaging	0.50
R6222:Nol11	UTSW	11	107,062,442 (GRCm39)	missense	possibly damaging	0.50
R6285:Nol11	UTSW	11	107,071,860 (GRCm39)	missense	probably benign	0.01
R6467:Nol11	UTSW	11	107,071,912 (GRCm39)	missense	possibly damaging	0.95
R7080:Nol11	UTSW	11	107,070,878 (GRCm39)	missense	probably damaging	1.00
R7679:Nol11	UTSW	11	107,064,142 (GRCm39)	missense	probably benign	0.00
R7767:Nol11	UTSW	11	107,069,908 (GRCm39)	missense	possibly damaging	0.67
R8831:Nol11	UTSW	11	107,067,662 (GRCm39)	missense	probably benign
R9063:Nol11	UTSW	11	107,069,857 (GRCm39)	missense	possibly damaging	0.62
R9063:Nol11	UTSW	11	107,064,240 (GRCm39)	missense	probably benign	0.04
R9329:Nol11	UTSW	11	107,071,765 (GRCm39)	missense	probably damaging	1.00
R9378:Nol11	UTSW	11	107,064,505 (GRCm39)	missense	probably benign	0.29
R9473:Nol11	UTSW	11	107,075,581 (GRCm39)	missense	probably null	0.81
R9515:Nol11	UTSW	11	107,064,278 (GRCm39)	missense	possibly damaging	0.76
R9771:Nol11	UTSW	11	107,069,914 (GRCm39)	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