Mutagenetix > Incidental Mutation

Incidental Mutation 'R7581:Noc2l'

586734

Institutional Source

Beutler Lab

Gene Symbol

Noc2l

Ensembl Gene

ENSMUSG00000095567

Gene Name

NOC2 like nucleolar associated transcriptional repressor

Synonyms

NIR

MMRRC Submission

045634-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7581 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156236010-156247616 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156245449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 612 (V612A)

Ref Sequence

ENSEMBL: ENSMUSP00000137253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179543] [ENSMUST00000179886] [ENSMUST00000179919] [ENSMUST00000217934] [ENSMUST00000218788] [ENSMUST00000219393] [ENSMUST00000220228]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000179543
AA Change: V612A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
AA Change: V612A

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: V455A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
AA Change: V455A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179919

SMART Domains

Protein: ENSMUSP00000136611
Gene: ENSMUSG00000096351

Domain	Start	End	E-Value	Type
low complexity region	277	295	N/A	INTRINSIC
low complexity region	365	385	N/A	INTRINSIC
low complexity region	401	410	N/A	INTRINSIC
SAM	411	478	1.82e-6	SMART
low complexity region	486	503	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217934

Predicted Effect

probably benign
Transcript: ENSMUST00000218788

Predicted Effect

probably benign
Transcript: ENSMUST00000219393

Predicted Effect

probably benign
Transcript: ENSMUST00000220228

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (47/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	G	A	5: 109,690,788		probably benign	Het
Adamts9	A	C	6: 92,937,338	D196E	probably benign	Het
Adnp	A	T	2: 168,183,466	D636E	probably damaging	Het
Afdn	T	C	17: 13,849,238	V723A	probably damaging	Het
Arid1a	A	T	4: 133,680,351	F1897I	unknown	Het
Atp6v0b	T	C	4: 117,885,286	M137V	probably benign	Het
Bicd1	T	A	6: 149,519,004	I784N	probably damaging	Het
Cckbr	A	G	7: 105,433,786	T119A	probably benign	Het
Creb5	T	C	6: 53,681,237	L184P	probably damaging	Het
Cyp2a22	T	G	7: 26,938,148	K141Q	possibly damaging	Het
D16Ertd472e	T	C	16: 78,546,557	T219A	possibly damaging	Het
Ep400	A	T	5: 110,756,025	L236Q	unknown	Het
Exph5	A	G	9: 53,372,557	S313G	possibly damaging	Het
Gm10024	T	C	10: 77,711,563	V36A	unknown	Het
Gm5493	A	G	17: 22,747,274	E44G	probably damaging	Het
Gtdc1	A	T	2: 44,790,005		probably null	Het
Invs	T	C	4: 48,421,909	V847A	probably benign	Het
Kif18b	C	A	11: 102,914,722	Q236H	probably damaging	Het
Kntc1	A	G	5: 123,816,755	T2079A	probably benign	Het
Large2	A	G	2: 92,370,193	S89P	probably damaging	Het
Maml3	A	C	3: 51,856,768	D258E	probably benign	Het
Mdga2	A	T	12: 66,506,255	M868K	probably damaging	Het
Mtss1l	A	G	8: 110,726,213	E30G	possibly damaging	Het
Muc16	T	C	9: 18,645,614	I3128V	unknown	Het
Mug2	C	T	6: 122,063,711	T740I	probably damaging	Het
Olfr420	G	A	1: 174,158,771		probably null	Het
Olfr979	A	T	9: 40,000,422	D268E	probably damaging	Het
Padi6	T	C	4: 140,728,929	T585A	probably benign	Het
Pcdhga1	A	T	18: 37,662,177	N78I	probably damaging	Het
Pdgfd	A	G	9: 6,293,894	Y156C	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452		probably benign	Het
Pi4ka	C	T	16: 17,301,060	V1307I		Het
Pip5k1c	A	G	10: 81,308,960	N212D	probably damaging	Het
Plekha1	A	G	7: 130,910,865	T264A	probably benign	Het
Polr2b	A	G	5: 77,326,704	R463G	probably damaging	Het
Psd2	T	G	18: 35,979,997	D248E	probably benign	Het
Rag1	G	T	2: 101,643,304	Q498K	possibly damaging	Het
Ryr3	A	G	2: 112,753,027	I2853T	probably damaging	Het
Selenow	G	T	7: 15,922,382		probably null	Het
Sned1	C	T	1: 93,256,545	S165F	probably benign	Het
Spata31d1a	A	G	13: 59,704,139		probably null	Het
Taar4	C	A	10: 23,961,154	H221N	probably damaging	Het
Tgm6	A	T	2: 130,141,285	R265W	probably damaging	Het
Trpm1	A	T	7: 64,204,555	Q275L	probably benign	Het
Ulk3	T	C	9: 57,592,042	L173P	probably damaging	Het
Urah	A	T	7: 140,835,627	T3S	probably benign	Het
Vmn1r149	A	T	7: 22,437,904	V109D	probably damaging	Het
Xpc	A	T	6: 91,498,017		probably benign	Het
Zglp1	T	A	9: 21,062,708	K227N	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
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
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'- CAAAGTCTTCGACAGAGCGC -3'
(R):5'- TACAGGGTTCACTCAAACTCAC -3'

Sequencing Primer
(F):5'- TTCGACAGAGCGCGACCTTC -3'
(R):5'- AGGGTTCACTCAAACTCACCTTTC -3'

Posted On

2019-10-24