Mutagenetix > Incidental Mutation

Incidental Mutation 'R7690:Noc2l'

593326

Institutional Source

Beutler Lab

Gene Symbol

Noc2l

Ensembl Gene

ENSMUSG00000095567

Gene Name

NOC2 like nucleolar associated transcriptional repressor

Synonyms

NIR

MMRRC Submission

045754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7690 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156320376-156332073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156322088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 135 (E135G)

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: E135G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
AA Change: E135G

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

Meta Mutation Damage Score

0.0712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,353,313 (GRCm39)	T710S	probably benign	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Agap1	T	C	1: 89,770,793 (GRCm39)	S648P	probably benign	Het
Alox5	T	C	6: 116,392,417 (GRCm39)	H368R	probably damaging	Het
Ano2	T	C	6: 125,990,161 (GRCm39)	F761L	probably damaging	Het
Aox4	T	C	1: 58,303,076 (GRCm39)	V1169A	probably damaging	Het
Apbb1ip	T	A	2: 22,706,996 (GRCm39)	M11K	unknown	Het
Arl5a	G	T	2: 52,302,077 (GRCm39)	H112Q	possibly damaging	Het
Ccdc18	C	T	5: 108,376,528 (GRCm39)	T1323I	probably benign	Het
Cmtm5	G	A	14: 55,173,938 (GRCm39)		probably benign	Het
Cul2	T	C	18: 3,419,420 (GRCm39)	Y194H	probably benign	Het
Daglb	T	C	5: 143,479,938 (GRCm39)	I415T	possibly damaging	Het
Ddx28	A	G	8: 106,736,963 (GRCm39)	V365A	probably damaging	Het
Dnah6	T	C	6: 73,146,063 (GRCm39)		probably null	Het
Eppk1	T	A	15: 75,995,946 (GRCm39)	T312S	probably benign	Het
Erich4	C	A	7: 25,314,710 (GRCm39)	V68L	possibly damaging	Het
Fam171a2	G	A	11: 102,328,660 (GRCm39)	P700S	probably benign	Het
Fat3	T	C	9: 15,909,477 (GRCm39)	N2175S	probably damaging	Het
Fcrl6	T	G	1: 172,426,223 (GRCm39)	R191S	probably damaging	Het
Fpgt	A	G	3: 154,793,467 (GRCm39)	S187P	probably damaging	Het
Gapvd1	T	G	2: 34,619,134 (GRCm39)	T80P	possibly damaging	Het
Gclm	A	G	3: 122,039,705 (GRCm39)	N24S	probably damaging	Het
Gdf15	A	G	8: 71,083,997 (GRCm39)	I89T	possibly damaging	Het
Gpn2	A	G	4: 133,318,693 (GRCm39)	E306G	probably damaging	Het
Iars2	A	T	1: 185,053,194 (GRCm39)	L359Q	probably damaging	Het
Kbtbd4	T	G	2: 90,736,240 (GRCm39)	C84G	possibly damaging	Het
Manea	A	G	4: 26,327,910 (GRCm39)	V377A	probably benign	Het
Map4	C	T	9: 109,828,861 (GRCm39)	T82I	probably damaging	Het
Mocos	C	T	18: 24,797,082 (GRCm39)	H81Y	probably damaging	Het
Mtx1	T	A	3: 89,120,088 (GRCm39)	T87S		Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myom2	A	T	8: 15,161,717 (GRCm39)		probably null	Het
Mzt1	C	T	14: 99,278,024 (GRCm39)	C48Y	probably damaging	Het
Nlrp9b	C	A	7: 19,758,295 (GRCm39)	P511T	probably benign	Het
Nova1	G	A	12: 46,767,549 (GRCm39)	P124L	unknown	Het
Pax8	T	A	2: 24,331,682 (GRCm39)	T134S	probably benign	Het
Pde4a	T	A	9: 21,077,300 (GRCm39)	L26Q	probably damaging	Het
Pde6b	G	A	5: 108,567,384 (GRCm39)	E254K	probably damaging	Het
Pdlim7	A	G	13: 55,656,744 (GRCm39)	I70T	probably damaging	Het
Pinx1	T	A	14: 64,101,660 (GRCm39)		probably null	Het
Pomt2	C	A	12: 87,177,141 (GRCm39)	R352L	probably damaging	Het
Rapgef5	G	A	12: 117,685,105 (GRCm39)	V519I	possibly damaging	Het
Rnps1	A	G	17: 24,637,168 (GRCm39)	E16G	unknown	Het
Slc4a5	T	C	6: 83,262,854 (GRCm39)	F782S	probably damaging	Het
Snap91	A	G	9: 86,707,031 (GRCm39)	V253A	possibly damaging	Het
Syce3	T	C	15: 89,281,544 (GRCm39)	M32V	possibly damaging	Het
Tcaf3	C	A	6: 42,574,069 (GRCm39)	V48L	probably damaging	Het
Tenm4	T	C	7: 96,512,740 (GRCm39)	V1366A	probably benign	Het
Tnxb	G	A	17: 34,908,494 (GRCm39)	M1382I	probably benign	Het
Tnxb	G	A	17: 34,908,501 (GRCm39)	G1385R	probably damaging	Het
Top3a	G	T	11: 60,647,206 (GRCm39)	L238I	probably damaging	Het
Trim9	A	T	12: 70,295,117 (GRCm39)	N742K	probably benign	Het
Trp63	T	A	16: 25,695,483 (GRCm39)	Y482N	unknown	Het
Ttc23	T	G	7: 67,319,918 (GRCm39)	F192V	possibly damaging	Het
Uck1	A	G	2: 32,148,184 (GRCm39)	V180A	probably benign	Het
Vwa5b1	G	A	4: 138,318,244 (GRCm39)	T541I	probably damaging	Het
Zfp456	G	T	13: 67,514,913 (GRCm39)	H264Q	probably damaging	Het
Zfpm2	T	G	15: 40,818,162 (GRCm39)	V165G	possibly damaging	Het
Zup1	C	T	10: 33,806,151 (GRCm39)		probably null	Het

Other mutations in Noc2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Noc2l	UTSW	4	156,324,553 (GRCm39)	small insertion	probably benign
FR4449:Noc2l	UTSW	4	156,324,558 (GRCm39)	small insertion	probably benign
FR4548:Noc2l	UTSW	4	156,324,557 (GRCm39)	small insertion	probably benign
FR4548:Noc2l	UTSW	4	156,324,549 (GRCm39)	small insertion	probably benign
FR4737:Noc2l	UTSW	4	156,325,958 (GRCm39)	critical splice donor site	probably benign
FR4737:Noc2l	UTSW	4	156,324,552 (GRCm39)	small insertion	probably benign
FR4737:Noc2l	UTSW	4	156,324,551 (GRCm39)	small insertion	probably benign
FR4976:Noc2l	UTSW	4	156,324,555 (GRCm39)	small insertion	probably benign
FR4976:Noc2l	UTSW	4	156,324,549 (GRCm39)	small insertion	probably benign
R1577:Noc2l	UTSW	4	156,325,079 (GRCm39)	missense	probably damaging	1.00
R1633:Noc2l	UTSW	4	156,329,750 (GRCm39)	missense	probably benign	0.20
R1858:Noc2l	UTSW	4	156,329,727 (GRCm39)	missense	probably damaging	1.00
R1862:Noc2l	UTSW	4	156,322,165 (GRCm39)	missense	probably benign	0.00
R2069:Noc2l	UTSW	4	156,325,907 (GRCm39)	nonsense	probably null
R2862:Noc2l	UTSW	4	156,321,907 (GRCm39)	missense	probably benign	0.30
R4092:Noc2l	UTSW	4	156,327,033 (GRCm39)	missense	probably damaging	1.00
R4369:Noc2l	UTSW	4	156,321,853 (GRCm39)	missense	possibly damaging	0.68
R4964:Noc2l	UTSW	4	156,330,368 (GRCm39)	missense	probably damaging	0.98
R4966:Noc2l	UTSW	4	156,330,368 (GRCm39)	missense	probably damaging	0.98
R5922:Noc2l	UTSW	4	156,325,770 (GRCm39)	nonsense	probably null
R7081:Noc2l	UTSW	4	156,331,477 (GRCm39)	missense	possibly damaging	0.80
R7171:Noc2l	UTSW	4	156,326,179 (GRCm39)	missense	probably benign	0.05
R7315:Noc2l	UTSW	4	156,325,817 (GRCm39)	missense	probably damaging	0.98
R7317:Noc2l	UTSW	4	156,323,673 (GRCm39)	missense	possibly damaging	0.93
R7581:Noc2l	UTSW	4	156,329,906 (GRCm39)	missense	probably benign	0.00
R7693:Noc2l	UTSW	4	156,324,764 (GRCm39)	missense	probably damaging	1.00
R8527:Noc2l	UTSW	4	156,326,187 (GRCm39)	missense	probably benign	0.05
R8542:Noc2l	UTSW	4	156,326,187 (GRCm39)	missense	probably benign	0.05
R9081:Noc2l	UTSW	4	156,326,224 (GRCm39)	missense	probably damaging	1.00
R9344:Noc2l	UTSW	4	156,325,130 (GRCm39)	missense	probably damaging	1.00
R9393:Noc2l	UTSW	4	156,320,784 (GRCm39)	critical splice donor site	probably null
R9406:Noc2l	UTSW	4	156,320,511 (GRCm39)	missense	probably benign	0.00
R9439:Noc2l	UTSW	4	156,326,130 (GRCm39)	missense	possibly damaging	0.62
R9448:Noc2l	UTSW	4	156,320,781 (GRCm39)	missense	probably benign
R9733:Noc2l	UTSW	4	156,328,022 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTCCTGCAGGAGAATGACC -3'
(R):5'- TTCACCTGCTGTCTCAGACG -3'

Sequencing Primer
(F):5'- TGGACTTCAGTGACTCGGACAG -3'
(R):5'- TGTCTCAGACGCCTCAAACGAG -3'

Posted On

2019-11-12