Mutagenetix > Incidental Mutation

Incidental Mutation 'R9344:Noc2l'

707670

Institutional Source

Beutler Lab

Gene Symbol

Noc2l

Ensembl Gene

ENSMUSG00000095567

Gene Name

NOC2 like nucleolar associated transcriptional repressor

Synonyms

NIR

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156320376-156332073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156325130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 325 (C325Y)

Ref Sequence

ENSEMBL: ENSMUSP00000137253 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000179543
AA Change: C325Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
AA Change: C325Y

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 damaging
Transcript: ENSMUST00000179886
AA Change: C168Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
AA Change: C168Y

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,591,135 (GRCm39)	V31A	possibly damaging	Het
Adss2	A	G	1: 177,597,527 (GRCm39)	Y378H	probably damaging	Het
Aldh1a1	T	A	19: 20,608,150 (GRCm39)	V324D	probably damaging	Het
Ankrd33b	A	G	15: 31,297,903 (GRCm39)	S285P	probably damaging	Het
Arel1	C	T	12: 84,981,371 (GRCm39)	G269S	probably damaging	Het
Arhgap44	A	G	11: 65,053,463 (GRCm39)	M1T	probably null	Het
Arpin	C	T	7: 79,577,983 (GRCm39)	V149I	probably benign	Het
Arpp21	A	G	9: 112,014,720 (GRCm39)	L28P	possibly damaging	Het
Ccr8	G	A	9: 119,923,133 (GRCm39)	V83I	probably damaging	Het
Cnksr1	T	C	4: 133,963,508 (GRCm39)	E58G	probably damaging	Het
Dctn2	T	A	10: 127,114,084 (GRCm39)	H341Q	probably damaging	Het
Ddx21	C	A	10: 62,428,825 (GRCm39)	A362S	possibly damaging	Het
Dnajc1	C	T	2: 18,289,586 (GRCm39)	V274I	probably benign	Het
Dock3	A	C	9: 106,870,763 (GRCm39)	C550W	probably damaging	Het
Dst	T	C	1: 34,220,676 (GRCm39)	L2160S	probably damaging	Het
Duox1	T	A	2: 122,168,163 (GRCm39)	M1096K	probably benign	Het
Dync2h1	A	T	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
E030025P04Rik	C	T	11: 109,030,454 (GRCm39)		probably null	Het
Eid2b	T	C	7: 27,977,591 (GRCm39)	M129T	possibly damaging	Het
Fnip2	G	A	3: 79,407,717 (GRCm39)	S288F	possibly damaging	Het
Grm4	G	T	17: 27,653,737 (GRCm39)	R738S	probably benign	Het
Gsto2	A	G	19: 47,864,884 (GRCm39)	D139G	probably benign	Het
Herc2	T	A	7: 55,772,112 (GRCm39)	V1097E	probably benign	Het
Impg1	G	A	9: 80,312,040 (GRCm39)	A181V	probably benign	Het
Irs2	G	T	8: 11,057,289 (GRCm39)	S381*	probably null	Het
Itprid1	C	T	6: 55,955,470 (GRCm39)	T1026I	probably benign	Het
Lrrd1	A	C	5: 3,908,819 (GRCm39)	D697A	possibly damaging	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncapg2	G	A	12: 116,388,273 (GRCm39)	R319H	probably damaging	Het
Nid1	A	G	13: 13,652,894 (GRCm39)	Y568C	probably damaging	Het
Or12e9	A	T	2: 87,202,161 (GRCm39)	D95V	possibly damaging	Het
Or1e17	C	A	11: 73,831,744 (GRCm39)	S224Y	possibly damaging	Het
Pde2a	G	T	7: 101,144,891 (GRCm39)	V169F	possibly damaging	Het
Pon3	T	C	6: 5,221,586 (GRCm39)	K348R	probably benign	Het
Ppp6c	A	G	2: 39,090,052 (GRCm39)		probably null	Het
Prrc2b	G	A	2: 32,103,600 (GRCm39)	G1026D	probably benign	Het
Psg22	A	T	7: 18,460,816 (GRCm39)	T482S	possibly damaging	Het
Rdh19	G	A	10: 127,692,740 (GRCm39)	V136M	probably damaging	Het
Sbf2	T	A	7: 109,940,535 (GRCm39)	N1275I	probably benign	Het
Sema4c	T	C	1: 36,592,395 (GRCm39)	N182D	probably damaging	Het
Slc7a12	T	A	3: 14,570,491 (GRCm39)	H414Q	probably damaging	Het
Slitrk5	A	G	14: 111,916,702 (GRCm39)	I109V	probably damaging	Het
Spag17	C	T	3: 100,010,793 (GRCm39)	P2096S	probably benign	Het
Steap1	T	A	5: 5,786,459 (GRCm39)	D326V	probably damaging	Het
Tacr1	C	T	6: 82,380,847 (GRCm39)	T86I	probably damaging	Het
Tenm4	C	T	7: 96,545,352 (GRCm39)	T2493I	probably damaging	Het
Tet2	A	G	3: 133,175,115 (GRCm39)	S1411P	possibly damaging	Het
Tom1	C	T	8: 75,785,076 (GRCm39)	R303C	probably damaging	Het
Trav7n-4	T	A	14: 53,329,200 (GRCm39)	I70N	possibly damaging	Het
Utrn	A	C	10: 12,560,275 (GRCm39)	V1338G	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r122	A	T	7: 20,867,271 (GRCm39)	H261Q	probably benign	Het
Vmn1r40	G	T	6: 89,691,235 (GRCm39)	L17F	probably benign	Het
Vmn2r54	A	G	7: 12,366,283 (GRCm39)	V217A	probably benign	Het
Vmn2r55	C	A	7: 12,385,782 (GRCm39)	G733*	probably null	Het
Vmn2r98	A	T	17: 19,286,777 (GRCm39)	N425I	probably benign	Het
Vps51	C	T	19: 6,126,345 (GRCm39)	V136I	unknown	Het
Zfp184	T	C	13: 22,144,411 (GRCm39)	C706R	probably damaging	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
R7690:Noc2l	UTSW	4	156,322,088 (GRCm39)	missense	probably benign	0.01
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
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'- ACAGCGTGGCTTAGTAATGTG -3'
(R):5'- CTCGTACCCAGAGGAAAAGAGC -3'

Sequencing Primer
(F):5'- TAATGTGAGACTAGGCTCCACTG -3'
(R):5'- ACAAGACCATGGGTTCCTGTTC -3'

Posted On

2022-04-18