Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Noc2l'

204007

Institutional Source

Beutler Lab

Gene Symbol

Noc2l

Ensembl Gene

ENSMUSG00000095567

Gene Name

NOC2 like nucleolar associated transcriptional repressor

Synonyms

NIR

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156236010-156247616 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156237708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 161 (R161G)

Ref Sequence

ENSEMBL: ENSMUSP00000137253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000179543] [ENSMUST00000179886]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000105569

SMART Domains

Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485

Domain	Start	End	E-Value	Type
low complexity region	20	50	N/A	INTRINSIC
BTB	90	187	3.55e-30	SMART
BACK	192	294	1.08e-42	SMART
Kelch	341	387	4.01e-8	SMART
Kelch	388	434	5.41e-14	SMART
Kelch	435	481	6.97e-17	SMART
Kelch	482	528	1.55e-14	SMART
Kelch	529	575	2.02e-13	SMART
Kelch	576	622	1.34e-9	SMART
low complexity region	626	640	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179543
AA Change: R161G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
AA Change: R161G

Domain	Start	End	E-Value	Type
low complexity region	21	58	N/A	INTRINSIC
low complexity region	97	114	N/A	INTRINSIC
low complexity region	121	139	N/A	INTRINSIC
Pfam:Noc2	331	626	1.8e-128	PFAM
low complexity region	651	675	N/A	INTRINSIC
low complexity region	701	723	N/A	INTRINSIC
low complexity region	738	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179886
AA Change: R4G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
AA Change: R4G

Domain	Start	End	E-Value	Type
Pfam:Noc2	172	470	1.2e-117	PFAM
low complexity region	494	518	N/A	INTRINSIC
low complexity region	544	566	N/A	INTRINSIC
low complexity region	581	593	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice lacking expression of this gene display embryonic lethality prior to the tooth bud stage. Mice with an immune cell deletion display impaired T and B cell differentiation with a cell cycle defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416	E565D	probably benign	Het
Adam30	A	T	3: 98,162,113	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,749,852		probably null	Het
Cacna1a	A	T	8: 84,415,930	I96F	possibly damaging	Het
Card10	G	A	15: 78,780,514	R747W	probably damaging	Het
Cdh8	T	A	8: 99,190,394	D363V	probably damaging	Het
Cecr2	T	C	6: 120,757,941	Y685H	probably damaging	Het
Cmklr1	T	C	5: 113,614,407	T178A	probably damaging	Het
Col16a1	G	A	4: 130,092,782		probably null	Het
Col4a1	C	T	8: 11,226,439		probably benign	Het
Coro2a	T	A	4: 46,548,797	I166F	possibly damaging	Het
Cry2	T	C	2: 92,424,566	H148R	probably damaging	Het
Crygd	T	C	1: 65,061,974	Y154C	probably benign	Het
Cubn	T	C	2: 13,308,561	Y3066C	probably damaging	Het
Defb15	C	T	8: 21,929,986	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,697,398	D147G	probably benign	Het
Dnah12	A	T	14: 26,709,257	Y340F	probably benign	Het
Dot1l	G	T	10: 80,783,539	R193L	probably damaging	Het
Dupd1	A	G	14: 21,686,689	V115A	probably benign	Het
Esd	A	C	14: 74,742,074	Y119S	probably damaging	Het
Esp36	A	G	17: 38,419,439		probably benign	Het
Etfbkmt	T	A	6: 149,144,151	M1K	probably null	Het
Exph5	A	G	9: 53,376,248	H1543R	probably benign	Het
Fam92a	C	T	4: 12,155,717	V306I	possibly damaging	Het
Fbxo16	A	G	14: 65,270,803	T23A	probably damaging	Het
Gm11492	A	G	11: 87,567,235	H145R	possibly damaging	Het
Gm6614	T	C	6: 142,003,423	M76V	possibly damaging	Het
Gorasp2	C	A	2: 70,679,464	H136Q	probably damaging	Het
Hdc	T	A	2: 126,597,933	I367F	probably benign	Het
Hmcn1	C	T	1: 150,638,900	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,584,124	D592G	probably benign	Het
Inmt	G	A	6: 55,174,883	A34V	probably damaging	Het
Ints9	A	C	14: 65,026,413	H378P	probably benign	Het
Kcnh7	T	A	2: 62,787,754	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,425,330	V259D	probably damaging	Het
Lipo1	A	G	19: 33,784,692	F135S	probably damaging	Het
Lrba	T	C	3: 86,773,203		probably null	Het
Mapk1	T	A	16: 17,026,429	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,444,921	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,459,969	P554L	probably damaging	Het
Mki67	T	C	7: 135,699,361	T1315A	probably benign	Het
Mprip	C	T	11: 59,758,221	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,185,988	I688F	probably benign	Het
Myo1d	A	T	11: 80,663,048	Y536N	probably damaging	Het
Neb	C	T	2: 52,162,187		probably null	Het
Nup54	T	A	5: 92,419,567	I375L	possibly damaging	Het
Nup93	T	C	8: 94,306,102	F539L	probably damaging	Het
Olfr138	A	G	17: 38,275,344	E191G	probably damaging	Het
Olfr417	T	A	1: 174,369,452	H178Q	probably damaging	Het
Olfr480	A	C	7: 108,066,725	Y24*	probably null	Het
Olfr874	T	A	9: 37,746,968	M278K	probably benign	Het
Panx1	A	T	9: 15,007,428	D378E	probably damaging	Het
Papss1	T	A	3: 131,583,184	V170D	possibly damaging	Het
Pcnx	T	C	12: 81,918,732	S558P	probably damaging	Het
Pde3a	T	A	6: 141,250,353	I255N	probably damaging	Het
Pde3a	G	T	6: 141,487,513	A757S	probably damaging	Het
Pdzph1	A	G	17: 58,922,583	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,551,020	R805S	probably benign	Het
Polr1a	G	A	6: 71,909,203	G14D	probably damaging	Het
Prg4	T	A	1: 150,460,669	D60V	probably damaging	Het
Ptprc	T	C	1: 138,112,227	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,842,209	R205K	probably benign	Het
Rcan2	A	T	17: 44,037,089		probably null	Het
Rock1	A	G	18: 10,079,207	I1087T	probably damaging	Het
Sectm1b	A	G	11: 121,054,942	I191T	possibly damaging	Het
Setd1b	T	C	5: 123,147,613	S241P	unknown	Het
Srpk2	T	C	5: 23,524,150	K497R	probably benign	Het
Sspo	T	C	6: 48,491,006	S4296P	probably damaging	Het
Syne4	T	C	7: 30,316,883	V168A	probably benign	Het
Tank	T	C	2: 61,649,912	F264S	probably damaging	Het
Ticrr	T	C	7: 79,695,207	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,411,198	V457A	probably damaging	Het
Trim43b	T	A	9: 89,085,571	K336N	probably damaging	Het
Trim47	T	C	11: 116,106,137	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,023	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607	S231P	probably benign	Het
Vit	A	G	17: 78,622,746	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 10,173,406	C131Y	possibly damaging	Het
Zadh2	T	C	18: 84,095,318	V373A	possibly damaging	Het
Zfp58	A	T	13: 67,491,188	F395I	probably damaging	Het
Zfp940	C	A	7: 29,845,010	G491C	probably damaging	Het

Other mutations in Noc2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Noc2l	UTSW	4	156240096	small insertion	probably benign
FR4449:Noc2l	UTSW	4	156240101	small insertion	probably benign
FR4548:Noc2l	UTSW	4	156240092	small insertion	probably benign
FR4548:Noc2l	UTSW	4	156240100	small insertion	probably benign
FR4737:Noc2l	UTSW	4	156240094	small insertion	probably benign
FR4737:Noc2l	UTSW	4	156240095	small insertion	probably benign
FR4737:Noc2l	UTSW	4	156241501	critical splice donor site	probably benign
FR4976:Noc2l	UTSW	4	156240092	small insertion	probably benign
FR4976:Noc2l	UTSW	4	156240098	small insertion	probably benign
R1577:Noc2l	UTSW	4	156240622	missense	probably damaging	1.00
R1633:Noc2l	UTSW	4	156245293	missense	probably benign	0.20
R1858:Noc2l	UTSW	4	156245270	missense	probably damaging	1.00
R2069:Noc2l	UTSW	4	156241450	nonsense	probably null
R2862:Noc2l	UTSW	4	156237450	missense	probably benign	0.30
R4092:Noc2l	UTSW	4	156242576	missense	probably damaging	1.00
R4369:Noc2l	UTSW	4	156237396	missense	possibly damaging	0.68
R4964:Noc2l	UTSW	4	156245911	missense	probably damaging	0.98
R4966:Noc2l	UTSW	4	156245911	missense	probably damaging	0.98
R5922:Noc2l	UTSW	4	156241313	nonsense	probably null
R7081:Noc2l	UTSW	4	156247020	missense	possibly damaging	0.80
R7171:Noc2l	UTSW	4	156241722	missense	probably benign	0.05
R7315:Noc2l	UTSW	4	156241360	missense	probably damaging	0.98
R7317:Noc2l	UTSW	4	156239216	missense	possibly damaging	0.93
R7581:Noc2l	UTSW	4	156245449	missense	probably benign	0.00
R7690:Noc2l	UTSW	4	156237631	missense	probably benign	0.01
R7693:Noc2l	UTSW	4	156240307	missense	probably damaging	1.00
R8527:Noc2l	UTSW	4	156241730	missense	probably benign	0.05
R8542:Noc2l	UTSW	4	156241730	missense	probably benign	0.05
R9081:Noc2l	UTSW	4	156241767	missense	probably damaging	1.00
R9344:Noc2l	UTSW	4	156240673	missense	probably damaging	1.00
R9393:Noc2l	UTSW	4	156236327	critical splice donor site	probably null
R9406:Noc2l	UTSW	4	156236054	missense	probably benign	0.00
R9439:Noc2l	UTSW	4	156241673	missense	possibly damaging	0.62
R9448:Noc2l	UTSW	4	156236324	missense	probably benign
R9733:Noc2l	UTSW	4	156243565	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGAGCCATTCCACTCCCTG -3'
(R):5'- CACTACAAATAAGGAGACGTAGCTG -3'

Sequencing Primer
(F):5'- ACACGCTGGAGGTGAAACCC -3'
(R):5'- AGACGTAGCTGGAGGACCC -3'

Posted On

2014-06-23