Mutagenetix > Incidental Mutations

Incidental Mutation 'R1734:Nol11'

199588

Institutional Source

Beutler Lab

Gene Symbol

Nol11

Ensembl Gene

ENSMUSG00000018433

Gene Name

nucleolar protein 11

Synonyms

1500002M01Rik

MMRRC Submission

039766-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107166663-107189381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107175623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 447 (S447L)

Ref Sequence

ENSEMBL: ENSMUSP00000102368 (fasta)

Gene Model

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

AlphaFold

Q8BJW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018577
AA Change: S447L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018577
Gene: ENSMUSG00000018433
AA Change: S447L

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: S447L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102368
Gene: ENSMUSG00000018433
AA Change: S447L

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: ENSMUST00000136917

Meta Mutation Damage Score

0.1718

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,585,460	C4695R	probably benign	Het
Actr10	T	A	12: 70,961,996	V401E	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Aimp1	A	T	3: 132,674,796	I59K	probably damaging	Het
Alms1	T	A	6: 85,641,550		probably null	Het
Anln	A	T	9: 22,350,955	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,414,655	T733A	probably damaging	Het
BC049715	C	T	6: 136,840,308	P182L	probably damaging	Het
Cblb	T	C	16: 52,186,240		probably benign	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Chac1	A	T	2: 119,353,458	L180F	probably damaging	Het
Cherp	A	T	8: 72,470,088		probably null	Het
Ckap4	A	G	10: 84,527,874	S442P	probably benign	Het
Clstn3	G	A	6: 124,436,814		probably benign	Het
Crb2	T	A	2: 37,793,656	C1057S	probably damaging	Het
Dact2	T	C	17: 14,196,639	D433G	probably benign	Het
Dnah6	G	A	6: 73,044,761	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,608,384	T210A	probably benign	Het
Fat2	A	G	11: 55,281,371	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,649	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,445,775		noncoding transcript	Het
Gm436	A	T	4: 144,670,026	C379S	probably benign	Het
Grm3	C	T	5: 9,589,742	R101K	probably benign	Het
Hspa12b	A	G	2: 131,138,536	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,255,943	T437A	probably benign	Het
Jcad	T	C	18: 4,674,526	F763L	probably damaging	Het
Map3k10	T	C	7: 27,658,115	D746G	probably damaging	Het
Mettl9	T	A	7: 121,047,841	Y57N	probably damaging	Het
Nav2	G	A	7: 49,575,720	E1803K	probably damaging	Het
Olfr294	C	T	7: 86,616,217	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,788,316		probably null	Het
Pde6a	A	G	18: 61,285,965	N804S	probably damaging	Het
Pepd	A	T	7: 35,031,426	D301V	probably benign	Het
Piwil2	A	T	14: 70,426,505		probably null	Het
Plec	C	T	15: 76,186,218	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,150,707	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,142,986		probably null	Het
Slc7a11	G	A	3: 50,372,346	Q489*	probably null	Het
Sned1	G	A	1: 93,259,768	D256N	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Ssfa2	G	A	2: 79,657,822	V750M	probably damaging	Het
Syce2	G	A	8: 84,887,147	E168K	probably benign	Het
Tex37	T	A	6: 70,913,661	Q49L	probably benign	Het
Tmem260	G	T	14: 48,509,093	V609L	probably benign	Het
Trim35	A	G	14: 66,309,329	D515G	probably damaging	Het
Tspan5	T	C	3: 138,898,140	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,755,838	I466V	probably benign	Het
Ttn	T	C	2: 76,745,813	D24912G	probably damaging	Het
Utp20	A	T	10: 88,767,461	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,432,300	R204G	probably damaging	Het
Vps18	A	T	2: 119,293,942	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,776,463	E198G	probably benign	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
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
R6223: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

Predicted Primers

PCR Primer
(F):5'- CCCCAGATGACCAGCATTGTATTCG -3'
(R):5'- TGCTCTTCCTGTATGTGAGAGTCCAC -3'

Sequencing Primer
(F):5'- gggctgccataccccac -3'
(R):5'- ATGTGAGAGTCCACATGGTG -3'

Posted On

2014-05-23