Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4548:Noc2l'

512036

Institutional Source

Beutler Lab

Gene Symbol

Noc2l

Ensembl Gene

ENSMUSG00000095567

Gene Name

NOC2 like nucleolar associated transcriptional repressor

Synonyms

NIR

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4548 ()

Quality Score

123.467

Status

Not validated

Chromosome

Chromosomal Location

156236010-156247616 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GC to GCTTC at 156240100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137183 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000179543

SMART Domains

Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567

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

SMART Domains

Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567

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: 99.8%
3x: 99.5%
10x: 98.3%
20x: 94.9%

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: 146 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,668,449		probably benign	Het
1700001K19Rik	CTT	CTTTTT	12: 110,668,452		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
2010300C02Rik	A	G	1: 37,625,102	S47P	probably damaging	Homo
4930433I11Rik	ACCTC	AC	7: 40,993,056		probably benign	Het
4932415D10Rik	G	GTCATTA	10: 82,290,996		probably benign	Homo
Abt1	TTCTTGCT	TT	13: 23,423,711		probably benign	Het
Ahdc1	TCC	TCCCCC	4: 133,062,757		probably benign	Homo
Ahdc1	T	TCCC	4: 133,062,760		probably benign	Homo
AI837181	CGG	CGGGGG	19: 5,425,231		probably benign	Het
AI837181	CG	CGGGG	19: 5,425,237		probably benign	Het
Anxa2	CCC	CCCTCC	9: 69,480,203		probably benign	Het
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGACAATAAAG	18: 34,281,998		probably benign	Het
Apol6	T	TGTTA	15: 77,051,445		probably null	Homo
BC051142	GCA	GCATCA	17: 34,460,065		probably benign	Het
Blm	CTAC	CTACTTAC	7: 80,463,769		probably null	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,116,336		probably benign	Het
Bud31	C	T	5: 145,146,535	R63C	probably benign	Het
C4b	C	T	17: 34,740,997	R335H	probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,717		probably benign	Het
Cacna1f	AGG	AGGGGG	X: 7,620,058		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,561,026		probably benign	Het
Cckbr	GGGC	G	7: 105,434,681		probably benign	Homo
Cd3eap	GGATG	GG	7: 19,357,244		probably benign	Homo
Cd80	GAAA	GAAAAAA	16: 38,486,319		probably benign	Homo
Ces1b	T	C	8: 93,068,092	N293S	probably null	Homo
Cgnl1	CGC	CGCGGC	9: 71,724,717		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,189,572		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,579		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,189,593		probably benign	Het
Cntnap1	GCC	GCCCCAACC	11: 101,189,594		probably benign	Het
Ctsm	GTGA	GTGAATGA	13: 61,537,837		probably null	Homo
Cttnbp2	TGCTGC	TGCTGCCGCTGC	6: 18,367,463		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,583,673		probably null	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Efna4	ATGTGAT	A	3: 89,334,422		probably benign	Homo
Eif3a	A	ATTTTT	19: 60,775,291		probably benign	Homo
Ermn	TTC	TTCATC	2: 58,048,075		probably benign	Het
Ermn	TC	TCTCC	2: 58,048,088		probably benign	Het
Fbxo43	GTGCCT	GTGCCTATGCCT	15: 36,152,098		probably null	Het
Fscb	A	G	12: 64,472,563	S710P	unknown	Het
Fscb	T	A	12: 64,472,565	Q709L	unknown	Het
Glod4	A	C	11: 76,243,310		probably benign	Homo
Gm14401	A	G	2: 177,086,868	D249G	probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,196,070		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,073		probably benign	Het
Gm8104	C	T	14: 43,110,009	T178I	probably benign	Het
Gm8104	T	C	14: 43,110,011	S179P	probably damaging	Het
Gpatch11	GGAAGA	GGAAGACGAAGA	17: 78,842,175		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042		probably benign	Homo
Hist1h1t	GAGAA	GA	13: 23,695,920		probably benign	Homo
Hspa1b	GCGCC	GC	17: 34,957,129		probably benign	Homo
Ifi211	G	A	1: 173,906,193	A134V	possibly damaging	Het
Igf1r	C	CTGGAGATGGAGG	7: 68,226,186		probably benign	Het
Igkv9-129	G	A	6: 67,840,034	V41I	probably damaging	Het
Ipo9	TCC	TCCCCC	1: 135,386,275		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Klra2	AG	AGAAATCCACGG	6: 131,221,851		probably null	Het
Kmt2b	CTCC	CTCCTCGTCC	7: 30,586,380		probably benign	Het
Kng2	G	A	16: 23,000,552	Q245*	probably null	Het
Kri1	CTCCTCTTCCTC	CTCCTC	9: 21,281,050		probably benign	Het
Krt10	TCCTCC	TCCTCCCCCTCC	11: 99,389,273		probably benign	Het
Krt10	TCCTCCAC	TCCTCCACCTCCAC	11: 99,389,276		probably benign	Homo
Las1l	TC	TCTTCCGC	X: 95,940,625		probably benign	Het
Las1l	GAG	GAGAAG	X: 95,940,823		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,813		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,816		probably benign	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182		probably benign	Homo
Luzp1	CTCTTCAGA	CTCTTCAGAGGTGGCATCTTCAGA	4: 136,543,188		probably benign	Homo
Mast4	CA	CAGTGGGA	13: 102,736,318		probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,275,982		probably benign	Het
Mn1	GCA	GCACCA	5: 111,419,698		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCCGGCAGTGAG	19: 42,076,109		probably benign	Het
Msantd4	A	T	9: 4,384,937	I221F	possibly damaging	Homo
Mup21	TATACTT	TATACTTTTTAAATACTT	4: 62,149,345		probably benign	Het
Mup21	ATACTT	ATACTTTTTATCTACTT	4: 62,149,346		probably benign	Het
Nacad	AGGGTC	AGGGTCGGGGTC	11: 6,599,752		probably benign	Het
Nacad	GG	GGCCAGTG	11: 6,599,760		probably benign	Het
Ncapd2	CTT	CTTGGTT	6: 125,173,596		probably benign	Homo
Nelfe	GACCGGGATCGAGACAGAGAC	GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC	17: 34,854,070		probably benign	Homo
Nfxl1	CCGGGG	CCGGGGTCGGGG	5: 72,559,115		probably benign	Het
Nkx2-6	C	T	14: 69,175,229	T282M	probably damaging	Homo
Nphp3	CACG	C	9: 104,025,939		probably benign	Het
Nrg3	TTG	TTGACACTG	14: 38,397,271		probably benign	Homo
Olfr313	T	A	11: 58,817,440	V144D	possibly damaging	Homo
Olfr318	T	G	11: 58,720,371	I226L	probably benign	Het
Olfr585	T	TTAG	7: 103,098,309		probably null	Homo
Olfr624	CAAA	CAAAAAA	7: 103,670,960		probably benign	Homo
Olfr624	G	GAAC	7: 103,670,967		probably null	Homo
Osmr	CTC	CTCTTC	15: 6,837,703		probably benign	Homo
Patl2	GCT	GCTCCT	2: 122,126,135		probably benign	Het
Pdik1l	ACCAC	ACCACCGCCAC	4: 134,279,512		probably benign	Homo
Phldb3	GACCC	G	7: 24,628,978		probably null	Het
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,819,680		probably benign	Homo
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Prag1	GC	GCAAC	8: 36,103,885		probably benign	Homo
Prr13	TCC	TCCGCC	15: 102,462,174		probably benign	Het
Prtg	GTAAC	G	9: 72,857,081		probably benign	Homo
Ptk2b	C	T	14: 66,173,849	R411Q	possibly damaging	Het
Ptms	TTC	TTCGTC	6: 124,914,456		probably benign	Het
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Rbm33	AGCAGCCGCAGC	AGCAGC	5: 28,394,201		probably benign	Het
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307		probably benign	Homo
Setd1a	TGGTAGTGG	TGGTAGTGGCGGTAGTGG	7: 127,785,313		probably benign	Homo
Sfswap	CCACTCAGC	CCACTCAGCGCACTCAGC	5: 129,569,749		probably benign	Het
Sfswap	AGCCCACTCGGCC	AGCCCACTCGGCCCACTCGGCC	5: 129,569,755		probably benign	Homo
Sh3pxd2b	GT	GTGTCTCT	11: 32,423,064		probably benign	Homo
Sh3pxd2b	T	TGTCTTG	11: 32,423,065		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,624,074		probably benign	Het
Six3	GGC	GGCCGC	17: 85,621,363		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACCCC	2: 125,154,214		probably benign	Homo
Spaca1	GC	GCTCTCTC	4: 34,049,856		probably benign	Het
Spag17	AGG	AGGCGG	3: 100,056,254		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,657		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,664		probably benign	Het
Supt20	CA	CAGCAGAA	3: 54,727,673		probably benign	Het
Syne1	C	A	10: 5,032,969	S8652I	probably benign	Homo
Tob1	GCA	GCAACA	11: 94,214,455		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,469		probably benign	Het
Tomm5	CTTCCGC	CTTCCGCATTTTCCGC	4: 45,107,977		probably benign	Het
Trav15-2-dv6-2	G	GAAA	14: 53,649,757		probably benign	Het
Triobp	TCG	TCGGCG	15: 78,993,387		probably benign	Het
Triobp	TCG	TCGCCG	15: 78,993,390		probably benign	Homo
Tsen2	GAG	GAGAAG	6: 115,560,068		probably benign	Het
Ttf2	TC	TCCGC	3: 100,963,160		probably benign	Homo
Tusc1	CGCCAC	CGCCACTGCCAC	4: 93,335,303		probably benign	Het
Ubtf	CTC	CTCATC	11: 102,306,958		probably benign	Het
Utrn	T	TTCCTGTC	10: 12,633,941		probably benign	Homo
Vars	TGG	TGGAGTCCTGGGGGG	17: 35,015,989		probably benign	Homo
Vars	G	GAGTCCTGGGTGC	17: 35,015,991		probably benign	Het
Vmn2r99	G	A	17: 19,394,285	G756R	probably damaging	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Zc3h13	TGCG	TGCGTGATGAGCG	14: 75,323,599		probably benign	Het
Zdhhc16	CACA	CACAACAGGGAAAGCAGTCTGTCAACA	19: 41,942,168		probably null	Het
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp335	TCC	TCCCCC	2: 164,907,472		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,680,775		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,776		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	Het
Zfp986	G	T	4: 145,899,358	R196I	probably benign	Het
Zfp992	G	T	4: 146,466,007	E62*	probably null	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
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
R1862:Noc2l	UTSW	4	156237708	missense	probably benign	0.00
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'- ACAGTGGGGTGCCTTAAATG -3'
(R):5'- ACTGCTTAGGGAATGTCAGGTAG -3'

Sequencing Primer
(F):5'- CCTTAAATGGGCTTTGGTTTTTGTTC -3'
(R):5'- ACCAAGCTGCTGATATGCTG -3'

Posted On

2018-04-05